1 chr1_KI270709v1_random:3184-4184 chr1_KI270709v1_random 3184 4184 1000 0.39997808480635 Category_1 Category_1 0.313206446225985 Category_1 Category_1 — — — — — 2 chr1_KI270709v1_random:7060-8060 chr1_KI270709v1_random 7060 8060 1000 0.470297526276126 Category_1 Category_1 0.617903575903921 Category_1 Category_1 — — — — — 3 chr1_KI270713v1_random:20568-21086 chr1_KI270713v1_random 20568 21086 518 0.37037877911466 Category_1 Category_1 0.643553424726968 Category_2 Category_1 — — — — — 4 chr1:1001348-1001896 chr1 1001348 1001896 548 0.630363861991594 Category_1 Category_1 0.474419421855919 Category_1 Category_1 ENSG00000221978|ENSG00000240731|ENSG00000188290|ENSG00000078808|ENSG00000127054|ENSG00000188157|ENSG00000224051|ENSG00000169972|ENSG00000176022|ENSG00000187634|ENSG00000272512|ENSG00000242485|ENSG00000242590|ENSG00000224870|ENSG00000272438|ENSG00000272455|ENSG00000264293|ENSG00000268179|ENSG00000169962|ENSG00000131584 CCNL2|RP5-890O3.9|HES4|SDF4|CPSF3L|AGRN|GLTPD1|PUSL1|B3GALT6|SAMD11|RP11-54O7.17|MRPL20|RP11-54O7.14|RP4-758J18.2|RP11-54O7.16|RP4-758J18.13|RN7SL657P|AL645608.1|TAS1R3|ACAP3 protein-coding|sense_intronic|lincRNA|misc_RNA Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive|Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive; Al-Gazali syndrome, 609465 (3), Autosomal recessive HP:0001155|HP:0002460|HP:0001197|HP:0010850|HP:0002421|HP:0003749|HP:0003722|HP:0003701|HP:0001291|HP:0001270|HP:0001288|HP:0001283|HP:0001284|HP:0001250|HP:0001252|HP:0001251|HP:0001249|HP:0001265|HP:0410280|HP:0025270|HP:0007340|HP:0010978|HP:0002515|HP:0003808|HP:0003803|HP:0025373|HP:0001374|HP:0001371|HP:0001373|HP:0001367|HP:0001388|HP:0001384|HP:0008872|HP:0410011|HP:0001324|HP:0000007|HP:0001311|HP:0002650|HP:0001315|HP:0002644|HP:0031108|HP:0000163|HP:0000174|HP:0000153|HP:0000152|HP:0025429|HP:0008997|HP:0000118|HP:0001446|HP:0002795|HP:0002793|HP:0002792|HP:0025401|HP:0001435|HP:0002751|HP:0002747|HP:0002719|HP:0002715|HP:0002020|HP:0002033|HP:0004661|HP:0003325|HP:0002015|HP:0003306|HP:0003324|HP:0005943|HP:0011805|HP:0002088|HP:0002086|HP:0002098|HP:0002094|HP:0002093|HP:0002091|HP:0003398|HP:0003388|HP:0100711|HP:0004885|HP:0003549|HP:0003547|HP:0004889|HP:0002205|HP:0009830|HP:0008443|HP:0007178|HP:0031826|HP:0006824|HP:0011389|HP:0009077|HP:0000639|HP:0000651|HP:0000602|HP:0009053|HP:0009046|HP:0011354|HP:0009005|HP:0012639|HP:0012638|HP:0001999|HP:0005659|HP:0004303|HP:0004302|HP:0100285|HP:0000951|HP:0000961|HP:0100295|HP:0000278|HP:0000290|HP:0012252|HP:0000277|HP:0000276|HP:0000271|HP:0030057|HP:0002817|HP:0002814|HP:0002827|HP:0002808|HP:0002803|HP:0002804|HP:0001574|HP:0000234|HP:0000508|HP:0000504|HP:0000598|HP:0000597|HP:0012547|HP:0000565|HP:0012515|HP:0000549|HP:0001172|HP:0001181|HP:0001166|HP:0001167|HP:0002493|HP:0002463|HP:0010946|HP:0010935|HP:0010938|HP:0001191|HP:0001193|HP:0001297|HP:0001290|HP:0100807|HP:0002597|HP:0001263|HP:0001239|HP:0001238|HP:0100886|HP:0100864|HP:0006009|HP:0003865|HP:0008807|HP:0000077|HP:0000079|HP:0001377|HP:0001376|HP:0001385|HP:0001382|HP:0002683|HP:0001363|HP:0002693|HP:0001357|HP:0008897|HP:0008828|HP:0012095|HP:0008818|HP:0008824|HP:0002663|HP:0002664|HP:0003995|HP:0000002|HP:0001332|HP:0002659|HP:0002656|HP:0002673|HP:0002652|HP:0002651|HP:0001319|HP:0002616|HP:0002617|HP:0003956|HP:0012179|HP:0000164|HP:0000159|HP:0000175|HP:0000177|HP:0005008|HP:0410030|HP:0500087|HP:0006243|HP:0002783|HP:0002779|HP:0000119|HP:0002778|HP:0000126|HP:0002757|HP:0002756|HP:0003367|HP:0003368|HP:0003366|HP:0003330|HP:0002011|HP:0002007|HP:0003336|HP:0003312|HP:0003319|HP:0003301|HP:0003300|HP:0011800|HP:0002089|HP:0002090|HP:0030962|HP:0009465|HP:0003593|HP:0002209|HP:0100774|HP:0009726|HP:0009832|HP:0009836|HP:0009815|HP:0001098|HP:0008453|HP:0100699|HP:0009768|HP:0004970|HP:0004942|HP:0004209|HP:0004233|HP:0001965|HP:0000647|HP:0001933|HP:0010049|HP:0010051|HP:0011355|HP:0011362|HP:0011341|HP:0000691|HP:0011314|HP:0012647|HP:0012649|HP:0000670|HP:0004325|HP:0005656|HP:0004323|HP:0004322|HP:0004334|HP:0004328|HP:0005607|HP:0005622|HP:0000987|HP:0000963|HP:0000939|HP:0000938|HP:0000932|HP:0100240|HP:0100238|HP:0000946|HP:0000944|HP:0000940|HP:0008070|HP:0008065|HP:0012294|HP:0000288|HP:0001595|HP:0001597|HP:0000272|HP:0000269|HP:0006439|HP:0005106|HP:0005105|HP:0002818|HP:0002815|HP:0002813|HP:0002828|HP:0002823|HP:0030084|HP:0005037|HP:0000238|HP:0000235|HP:0001822|HP:0000501|HP:0001832|HP:0004097|HP:0000592|HP:0000591|HP:0000587|HP:0001892|HP:0011220|HP:0001871|HP:0000539|HP:0001883|HP:0012512|HP:0000543|HP:0000545 5 chr1:100356821-100357821 chr1 100356821 100357821 1000 0.637113812525358 Category_1 Category_1 1.70131874007473 Category_9 Category_5 ENSG00000079335|ENSG00000162688 CDC14A|AGL protein-coding Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3), Autosomal recessive|Glycogen storage disease IIIa, 232400 (3), Autosomal recessive; Glycogen storage disease IIIb, 232400 (3), Autosomal recessive HP:0000080|HP:0000078|HP:0012041|HP:0000025|HP:0000007|HP:0000144|HP:0000118|HP:0000119|HP:0003577|HP:0011389|HP:0012243|HP:0000598|HP:0010938|HP:0010876|HP:0001256|HP:0001249|HP:0100886|HP:0010978|HP:0001392|HP:0001395|HP:0000002|HP:0001324|HP:0000163|HP:0000159|HP:0000177|HP:0000153|HP:0000152|HP:0001438|HP:0002715|HP:0002721|HP:0002012|HP:0011805|HP:0011800|HP:0002240|HP:0001943|HP:0001939|HP:0011339|HP:0012638|HP:0004322|HP:0000293|HP:0000271|HP:0000272|HP:0005105|HP:0000234 6 chr1:100361686-100362251 chr1 100361686 100362251 565 0.350394683096671 Category_1 Category_1 0.816442584496026 Category_3 Category_2 ENSG00000162688|ENSG00000079335 AGL|CDC14A protein-coding Glycogen storage disease IIIa, 232400 (3), Autosomal recessive; Glycogen storage disease IIIb, 232400 (3), Autosomal recessive|Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3), Autosomal recessive HP:0010938|HP:0010876|HP:0001256|HP:0001249|HP:0100886|HP:0010978|HP:0001392|HP:0001395|HP:0000002|HP:0001324|HP:0000007|HP:0000163|HP:0000159|HP:0000177|HP:0000153|HP:0000152|HP:0000118|HP:0001438|HP:0002715|HP:0002721|HP:0002012|HP:0011805|HP:0011800|HP:0002240|HP:0001943|HP:0001939|HP:0011339|HP:0012638|HP:0004322|HP:0000293|HP:0000271|HP:0000272|HP:0005105|HP:0000234|HP:0000080|HP:0000078|HP:0012041|HP:0000025|HP:0000144|HP:0000119|HP:0003577|HP:0011389|HP:0012243|HP:0000598 7 chr1:100423972-100424486 chr1 100423972 100424486 514 0.603936533588186 Category_1 Category_1 1.33541877852561 Category_8 Category_4 ENSG00000162688|ENSG00000079335 AGL|CDC14A protein-coding Glycogen storage disease IIIa, 232400 (3), Autosomal recessive; Glycogen storage disease IIIb, 232400 (3), Autosomal recessive|Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3), Autosomal recessive HP:0010938|HP:0010876|HP:0001256|HP:0001249|HP:0100886|HP:0010978|HP:0001392|HP:0001395|HP:0000002|HP:0001324|HP:0000007|HP:0000163|HP:0000159|HP:0000177|HP:0000153|HP:0000152|HP:0000118|HP:0001438|HP:0002715|HP:0002721|HP:0002012|HP:0011805|HP:0011800|HP:0002240|HP:0001943|HP:0001939|HP:0011339|HP:0012638|HP:0004322|HP:0000293|HP:0000271|HP:0000272|HP:0005105|HP:0000234|HP:0000080|HP:0000078|HP:0012041|HP:0000025|HP:0000144|HP:0000119|HP:0003577|HP:0011389|HP:0012243|HP:0000598 8 chr1:1004442-1005172 chr1 1004442 1005172 730 0.646087005408838 Category_1 Category_1 0.881690467016066 Category_4 Category_2 ENSG00000264293|ENSG00000230368|ENSG00000242590|ENSG00000188157|ENSG00000224051|ENSG00000240731|ENSG00000242485|ENSG00000269308|ENSG00000169972|ENSG00000078808|ENSG00000273443|ENSG00000237330|ENSG00000234711|ENSG00000131591|ENSG00000188290|ENSG00000221978|ENSG00000224870|ENSG00000272512|ENSG00000217801|ENSG00000127054|ENSG00000268179|ENSG00000272438|ENSG00000187634|ENSG00000162572|ENSG00000169962|ENSG00000131584|ENSG00000176022|ENSG00000272455 RN7SL657P|FAM41C|RP11-54O7.14|AGRN|GLTPD1|RP5-890O3.9|MRPL20|AL645608.2|PUSL1|SDF4|RP11-54O7.18|RNF223|TUBB8P11|C1orf159|HES4|CCNL2|RP4-758J18.2|RP11-54O7.17|RP11-465B22.3|CPSF3L|AL645608.1|RP11-54O7.16|SAMD11|SCNN1D|TAS1R3|ACAP3|B3GALT6|RP4-758J18.13 misc_RNA|lincRNA|sense_intronic|protein-coding|pseudogene Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive|Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive; Al-Gazali syndrome, 609465 (3), Autosomal recessive HP:0001155|HP:0002460|HP:0001197|HP:0010850|HP:0002421|HP:0003749|HP:0003722|HP:0003701|HP:0001291|HP:0001270|HP:0001288|HP:0001283|HP:0001284|HP:0001250|HP:0001252|HP:0001251|HP:0001249|HP:0001265|HP:0410280|HP:0025270|HP:0007340|HP:0010978|HP:0002515|HP:0003808|HP:0003803|HP:0025373|HP:0001374|HP:0001371|HP:0001373|HP:0001367|HP:0001388|HP:0001384|HP:0008872|HP:0410011|HP:0001324|HP:0000007|HP:0001311|HP:0002650|HP:0001315|HP:0002644|HP:0031108|HP:0000163|HP:0000174|HP:0000153|HP:0000152|HP:0025429|HP:0008997|HP:0000118|HP:0001446|HP:0002795|HP:0002793|HP:0002792|HP:0025401|HP:0001435|HP:0002751|HP:0002747|HP:0002719|HP:0002715|HP:0002020|HP:0002033|HP:0004661|HP:0003325|HP:0002015|HP:0003306|HP:0003324|HP:0005943|HP:0011805|HP:0002088|HP:0002086|HP:0002098|HP:0002094|HP:0002093|HP:0002091|HP:0003398|HP:0003388|HP:0100711|HP:0004885|HP:0003549|HP:0003547|HP:0004889|HP:0002205|HP:0009830|HP:0008443|HP:0007178|HP:0031826|HP:0006824|HP:0011389|HP:0009077|HP:0000639|HP:0000651|HP:0000602|HP:0009053|HP:0009046|HP:0011354|HP:0009005|HP:0012639|HP:0012638|HP:0001999|HP:0005659|HP:0004303|HP:0004302|HP:0100285|HP:0000951|HP:0000961|HP:0100295|HP:0000278|HP:0000290|HP:0012252|HP:0000277|HP:0000276|HP:0000271|HP:0030057|HP:0002817|HP:0002814|HP:0002827|HP:0002808|HP:0002803|HP:0002804|HP:0001574|HP:0000234|HP:0000508|HP:0000504|HP:0000598|HP:0000597|HP:0012547|HP:0000565|HP:0012515|HP:0000549|HP:0001172|HP:0001181|HP:0001166|HP:0001167|HP:0002493|HP:0002463|HP:0010946|HP:0010935|HP:0010938|HP:0001191|HP:0001193|HP:0001297|HP:0001290|HP:0100807|HP:0002597|HP:0001263|HP:0001239|HP:0001238|HP:0100886|HP:0100864|HP:0006009|HP:0003865|HP:0008807|HP:0000077|HP:0000079|HP:0001377|HP:0001376|HP:0001385|HP:0001382|HP:0002683|HP:0001363|HP:0002693|HP:0001357|HP:0008897|HP:0008828|HP:0012095|HP:0008818|HP:0008824|HP:0002663|HP:0002664|HP:0003995|HP:0000002|HP:0001332|HP:0002659|HP:0002656|HP:0002673|HP:0002652|HP:0002651|HP:0001319|HP:0002616|HP:0002617|HP:0003956|HP:0012179|HP:0000164|HP:0000159|HP:0000175|HP:0000177|HP:0005008|HP:0410030|HP:0500087|HP:0006243|HP:0002783|HP:0002779|HP:0000119|HP:0002778|HP:0000126|HP:0002757|HP:0002756|HP:0003367|HP:0003368|HP:0003366|HP:0003330|HP:0002011|HP:0002007|HP:0003336|HP:0003312|HP:0003319|HP:0003301|HP:0003300|HP:0011800|HP:0002089|HP:0002090|HP:0030962|HP:0009465|HP:0003593|HP:0002209|HP:0100774|HP:0009726|HP:0009832|HP:0009836|HP:0009815|HP:0001098|HP:0008453|HP:0100699|HP:0009768|HP:0004970|HP:0004942|HP:0004209|HP:0004233|HP:0001965|HP:0000647|HP:0001933|HP:0010049|HP:0010051|HP:0011355|HP:0011362|HP:0011341|HP:0000691|HP:0011314|HP:0012647|HP:0012649|HP:0000670|HP:0004325|HP:0005656|HP:0004323|HP:0004322|HP:0004334|HP:0004328|HP:0005607|HP:0005622|HP:0000987|HP:0000963|HP:0000939|HP:0000938|HP:0000932|HP:0100240|HP:0100238|HP:0000946|HP:0000944|HP:0000940|HP:0008070|HP:0008065|HP:0012294|HP:0000288|HP:0001595|HP:0001597|HP:0000272|HP:0000269|HP:0006439|HP:0005106|HP:0005105|HP:0002818|HP:0002815|HP:0002813|HP:0002828|HP:0002823|HP:0030084|HP:0005037|HP:0000238|HP:0000235|HP:0001822|HP:0000501|HP:0001832|HP:0004097|HP:0000592|HP:0000591|HP:0000587|HP:0001892|HP:0011220|HP:0001871|HP:0000539|HP:0001883|HP:0012512|HP:0000543|HP:0000545 9 chr1:100818836-100819338 chr1 100818836 100819338 502 0.428596030352557 Category_1 Category_1 0.519899008669154 Category_1 Category_1 ENSG00000137992|ENSG00000162694|ENSG00000230287|ENSG00000181656 DBT|EXTL2|RP11-305E17.4|GPR88 protein-coding|pseudogene Maple syrup urine disease, type II, 248600 (3), Autosomal recessive|?Chorea, childhood-onset, with psychomotor retardation, 616939 (3), Autosomal recessive HP:0010892|HP:0001290|HP:0001276|HP:0001254|HP:0001250|HP:0001252|HP:0001251|HP:0001249|HP:0001259|HP:0010978|HP:0003808|HP:0000079|HP:0008872|HP:0012091|HP:0000007|HP:0410066|HP:0000118|HP:0000119|HP:0002715|HP:0002017|HP:0002012|HP:0002013|HP:0002011|HP:0002060|HP:0001943|HP:0001946|HP:0001941|HP:0001939|HP:0031796|HP:0012647|HP:0012649|HP:0012639|HP:0012638|HP:0000969|HP:0002465|HP:0002457|HP:0001263|HP:0002072|HP:0004305 10 chr1:10084751-10085316 chr1 10084751 10085316 565 0.622517977242075 Category_1 Category_1 0.664332810484042 Category_2 Category_1 ENSG00000142657|ENSG00000265945|ENSG00000130939 PGD|RN7SL721P|UBE4B protein-coding|misc_RNA — — 11 chr1:101097125-101098125 chr1 101097125 101098125 1000 0.636342939072286 Category_1 Category_1 0.917354363753288 Category_4 Category_2 — LOC102606465 ncRNA — — 12 chr1:101308097-101308850 chr1 101308097 101308850 753 0.590010172497075 Category_1 Category_1 0.595402698870686 Category_1 Category_1 ENSG00000231671 LINC01307 ncRNA — — 13 chr1:10171406-10172002 chr1 10171406 10172002 596 0.629683176166737 Category_1 Category_1 0.447503805233934 Category_1 Category_1 ENSG00000142657|ENSG00000054523|ENSG00000265945 PGD|KIF1B|RN7SL721P protein-coding|misc_RNA Pheochromocytoma, 171300 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Somatic mutation, Autosomal dominant; Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant HP:0025142|HP:0002460|HP:0008629|HP:0010935|HP:0010927|HP:0032263|HP:0003745|HP:0025269|HP:0001293|HP:0001291|HP:0001288|HP:0001284|HP:0100835|HP:0100836|HP:0001251|HP:0001265|HP:0002597|HP:0002574|HP:0008776|HP:0007400|HP:0100852|HP:0003829|HP:0012072|HP:0000095|HP:0000096|HP:0000093|HP:0000077|HP:0000079|HP:0033823|HP:0007550|HP:0002664|HP:0001324|HP:0001342|HP:0002668|HP:0000006|HP:0001337|HP:0001336|HP:0002666|HP:0001311|HP:0002640|HP:0002653|HP:0001315|HP:0000152|HP:0007686|HP:0031284|HP:0000118|HP:0000119|HP:0001428|HP:0001438|HP:0002018|HP:0002017|HP:0002027|HP:0002014|HP:0003345|HP:0002011|HP:0100530|HP:0011805|HP:0002086|HP:0100545|HP:0003378|HP:0003376|HP:0003383|HP:0003384|HP:0003380|HP:0002277|HP:0002270|HP:0003574|HP:0003581|HP:0003528|HP:0009726|HP:0009711|HP:0009830|HP:0001095|HP:0001098|HP:0003639|HP:0031826|HP:0006824|HP:0011389|HP:0005584|HP:0001962|HP:0000616|HP:0001945|HP:0001920|HP:0001939|HP:0001903|HP:0011355|HP:0011354|HP:0009027|HP:0001992|HP:0012639|HP:0012638|HP:0004325|HP:0004323|HP:0003005|HP:0004328|HP:0004308|HP:0004305|HP:0000957|HP:0000953|HP:0000951|HP:0045010|HP:0040131|HP:0008062|HP:0008053|HP:0008056|HP:0008046|HP:0011675|HP:0007700|HP:0012252|HP:0000271|HP:0002814|HP:0002813|HP:0030067|HP:0001574|HP:0000234|HP:0001824|HP:0000508|HP:0000598|HP:0001892|HP:0012547|HP:0000553|HP:0000570|HP:0001871|HP:0012531|HP:0001877 14 chr1:10177042-10177676 chr1 10177042 10177676 634 0.388662399064746 Category_1 Category_1 0.779699280934623 Category_3 Category_2 ENSG00000054523|ENSG00000265945|ENSG00000142657 KIF1B|RN7SL721P|PGD protein-coding|misc_RNA Pheochromocytoma, 171300 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Somatic mutation, Autosomal dominant; Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant HP:0025142|HP:0002460|HP:0008629|HP:0010935|HP:0010927|HP:0032263|HP:0003745|HP:0025269|HP:0001293|HP:0001291|HP:0001288|HP:0001284|HP:0100835|HP:0100836|HP:0001251|HP:0001265|HP:0002597|HP:0002574|HP:0008776|HP:0007400|HP:0100852|HP:0003829|HP:0012072|HP:0000095|HP:0000096|HP:0000093|HP:0000077|HP:0000079|HP:0033823|HP:0007550|HP:0002664|HP:0001324|HP:0001342|HP:0002668|HP:0000006|HP:0001337|HP:0001336|HP:0002666|HP:0001311|HP:0002640|HP:0002653|HP:0001315|HP:0000152|HP:0007686|HP:0031284|HP:0000118|HP:0000119|HP:0001428|HP:0001438|HP:0002018|HP:0002017|HP:0002027|HP:0002014|HP:0003345|HP:0002011|HP:0100530|HP:0011805|HP:0002086|HP:0100545|HP:0003378|HP:0003376|HP:0003383|HP:0003384|HP:0003380|HP:0002277|HP:0002270|HP:0003574|HP:0003581|HP:0003528|HP:0009726|HP:0009711|HP:0009830|HP:0001095|HP:0001098|HP:0003639|HP:0031826|HP:0006824|HP:0011389|HP:0005584|HP:0001962|HP:0000616|HP:0001945|HP:0001920|HP:0001939|HP:0001903|HP:0011355|HP:0011354|HP:0009027|HP:0001992|HP:0012639|HP:0012638|HP:0004325|HP:0004323|HP:0003005|HP:0004328|HP:0004308|HP:0004305|HP:0000957|HP:0000953|HP:0000951|HP:0045010|HP:0040131|HP:0008062|HP:0008053|HP:0008056|HP:0008046|HP:0011675|HP:0007700|HP:0012252|HP:0000271|HP:0002814|HP:0002813|HP:0030067|HP:0001574|HP:0000234|HP:0001824|HP:0000508|HP:0000598|HP:0001892|HP:0012547|HP:0000553|HP:0000570|HP:0001871|HP:0012531|HP:0001877 15 chr1:10178309-10178942 chr1 10178309 10178942 633 0.580691813052423 Category_1 Category_1 0.94186654464361 Category_5 Category_3 ENSG00000142657|ENSG00000265945|ENSG00000054523 PGD|RN7SL721P|KIF1B protein-coding|misc_RNA Pheochromocytoma, 171300 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Somatic mutation, Autosomal dominant; Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant HP:0025142|HP:0002460|HP:0008629|HP:0010935|HP:0010927|HP:0032263|HP:0003745|HP:0025269|HP:0001293|HP:0001291|HP:0001288|HP:0001284|HP:0100835|HP:0100836|HP:0001251|HP:0001265|HP:0002597|HP:0002574|HP:0008776|HP:0007400|HP:0100852|HP:0003829|HP:0012072|HP:0000095|HP:0000096|HP:0000093|HP:0000077|HP:0000079|HP:0033823|HP:0007550|HP:0002664|HP:0001324|HP:0001342|HP:0002668|HP:0000006|HP:0001337|HP:0001336|HP:0002666|HP:0001311|HP:0002640|HP:0002653|HP:0001315|HP:0000152|HP:0007686|HP:0031284|HP:0000118|HP:0000119|HP:0001428|HP:0001438|HP:0002018|HP:0002017|HP:0002027|HP:0002014|HP:0003345|HP:0002011|HP:0100530|HP:0011805|HP:0002086|HP:0100545|HP:0003378|HP:0003376|HP:0003383|HP:0003384|HP:0003380|HP:0002277|HP:0002270|HP:0003574|HP:0003581|HP:0003528|HP:0009726|HP:0009711|HP:0009830|HP:0001095|HP:0001098|HP:0003639|HP:0031826|HP:0006824|HP:0011389|HP:0005584|HP:0001962|HP:0000616|HP:0001945|HP:0001920|HP:0001939|HP:0001903|HP:0011355|HP:0011354|HP:0009027|HP:0001992|HP:0012639|HP:0012638|HP:0004325|HP:0004323|HP:0003005|HP:0004328|HP:0004308|HP:0004305|HP:0000957|HP:0000953|HP:0000951|HP:0045010|HP:0040131|HP:0008062|HP:0008053|HP:0008056|HP:0008046|HP:0011675|HP:0007700|HP:0012252|HP:0000271|HP:0002814|HP:0002813|HP:0030067|HP:0001574|HP:0000234|HP:0001824|HP:0000508|HP:0000598|HP:0001892|HP:0012547|HP:0000553|HP:0000570|HP:0001871|HP:0012531|HP:0001877 16 chr1:10181476-10182110 chr1 10181476 10182110 634 0.662313576938989 Category_1 Category_1 0.599495620851509 Category_1 Category_1 ENSG00000054523 KIF1B protein-coding Pheochromocytoma, 171300 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Somatic mutation, Autosomal dominant; Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant HP:0025142|HP:0002460|HP:0008629|HP:0010935|HP:0010927|HP:0032263|HP:0003745|HP:0025269|HP:0001293|HP:0001291|HP:0001288|HP:0001284|HP:0100835|HP:0100836|HP:0001251|HP:0001265|HP:0002597|HP:0002574|HP:0008776|HP:0007400|HP:0100852|HP:0003829|HP:0012072|HP:0000095|HP:0000096|HP:0000093|HP:0000077|HP:0000079|HP:0033823|HP:0007550|HP:0002664|HP:0001324|HP:0001342|HP:0002668|HP:0000006|HP:0001337|HP:0001336|HP:0002666|HP:0001311|HP:0002640|HP:0002653|HP:0001315|HP:0000152|HP:0007686|HP:0031284|HP:0000118|HP:0000119|HP:0001428|HP:0001438|HP:0002018|HP:0002017|HP:0002027|HP:0002014|HP:0003345|HP:0002011|HP:0100530|HP:0011805|HP:0002086|HP:0100545|HP:0003378|HP:0003376|HP:0003383|HP:0003384|HP:0003380|HP:0002277|HP:0002270|HP:0003574|HP:0003581|HP:0003528|HP:0009726|HP:0009711|HP:0009830|HP:0001095|HP:0001098|HP:0003639|HP:0031826|HP:0006824|HP:0011389|HP:0005584|HP:0001962|HP:0000616|HP:0001945|HP:0001920|HP:0001939|HP:0001903|HP:0011355|HP:0011354|HP:0009027|HP:0001992|HP:0012639|HP:0012638|HP:0004325|HP:0004323|HP:0003005|HP:0004328|HP:0004308|HP:0004305|HP:0000957|HP:0000953|HP:0000951|HP:0045010|HP:0040131|HP:0008062|HP:0008053|HP:0008056|HP:0008046|HP:0011675|HP:0007700|HP:0012252|HP:0000271|HP:0002814|HP:0002813|HP:0030067|HP:0001574|HP:0000234|HP:0001824|HP:0000508|HP:0000598|HP:0001892|HP:0012547|HP:0000553|HP:0000570|HP:0001871|HP:0012531|HP:0001877 17 chr1:1019218-1020061 chr1 1019218 1020061 843 0.321586127557892 Category_1 Category_1 0.580221988657655 Category_1 Category_1 ENSG00000223663|ENSG00000215915|ENSG00000197785|ENSG00000175756|ENSG00000242590|ENSG00000162572|ENSG00000127054|ENSG00000234711|ENSG00000230368|ENSG00000169972|ENSG00000240731|ENSG00000188157|ENSG00000273443|ENSG00000131591|ENSG00000131584|ENSG00000217801|ENSG00000160087|ENSG00000230415|ENSG00000107404|ENSG00000237330|ENSG00000224051|ENSG00000162576|ENSG00000169962 RP5-890O3.3|ATAD3C|ATAD3A|AURKAIP1|RP11-54O7.14|SCNN1D|CPSF3L|TUBB8P11|FAM41C|PUSL1|RP5-890O3.9|AGRN|RP11-54O7.18|C1orf159|ACAP3|RP11-465B22.3|UBE2J2|RP5-902P8.10|DVL1|RNF223|GLTPD1|MXRA8|TAS1R3 pseudogene|protein-coding|sense_intronic|lincRNA Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive|Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive|Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant HP:0025116|HP:0002493|HP:0002465|HP:0002463|HP:0010938|HP:0001197|HP:0007210|HP:0001298|HP:0001276|HP:0001272|HP:0001273|HP:0001288|HP:0001250|HP:0001252|HP:0001251|HP:0001249|HP:0001263|HP:0001257|HP:0100886|HP:0100840|HP:0008736|HP:0410263|HP:0410280|HP:0007360|HP:0002540|HP:0002500|HP:0003808|HP:0003811|HP:0001392|HP:0000079|HP:0000078|HP:0000036|HP:0001385|HP:0000054|HP:0000050|HP:0002683|HP:0000032|HP:0000035|HP:0000034|HP:0000028|HP:0008872|HP:0001332|HP:0000007|HP:0000006|HP:0002650|HP:0001321|HP:0001317|HP:0002644|HP:0000160|HP:0000163|HP:0000153|HP:0000152|HP:0008936|HP:0000118|HP:0000119|HP:0001438|HP:0002012|HP:0002011|HP:0002007|HP:0011805|HP:0002066|HP:0002064|HP:0002060|HP:0003593|HP:0002240|HP:0003535|HP:0010719|HP:0200006|HP:0009830|HP:0001098|HP:0000639|HP:0000648|HP:0001941|HP:0000609|HP:0001939|HP:0012639|HP:0012638|HP:0001999|HP:0005656|HP:0006989|HP:0004328|HP:0008050|HP:0008056|HP:0008058|HP:0007700|HP:0000290|HP:0001595|HP:0000277|HP:0000276|HP:0000271|HP:0012243|HP:0005105|HP:0002814|HP:0001574|HP:0000234|HP:0000582|HP:0000587|HP:0012547|HP:0000565|HP:0000539|HP:0000534|HP:0001883|HP:0000549|HP:0000545|HP:0001155|HP:0002460|HP:0010850|HP:0002421|HP:0003749|HP:0003722|HP:0003701|HP:0001291|HP:0001270|HP:0001283|HP:0001284|HP:0001265|HP:0025270|HP:0007340|HP:0010978|HP:0002515|HP:0003803|HP:0025373|HP:0001374|HP:0001371|HP:0001373|HP:0001367|HP:0001388|HP:0001384|HP:0410011|HP:0001324|HP:0001311|HP:0001315|HP:0031108|HP:0000174|HP:0025429|HP:0008997|HP:0001446|HP:0002795|HP:0002793|HP:0002792|HP:0025401|HP:0001435|HP:0002751|HP:0002747|HP:0002719|HP:0002715|HP:0002020|HP:0002033|HP:0004661|HP:0003325|HP:0002015|HP:0003306|HP:0003324|HP:0005943|HP:0002088|HP:0002086|HP:0002098|HP:0002094|HP:0002093|HP:0002091|HP:0003398|HP:0003388|HP:0100711|HP:0004885|HP:0003549|HP:0003547|HP:0004889|HP:0002205|HP:0008443|HP:0007178|HP:0031826|HP:0006824|HP:0011389|HP:0009077|HP:0000651|HP:0000602|HP:0009053|HP:0009046|HP:0011354|HP:0009005|HP:0005659|HP:0004303|HP:0004302|HP:0100285|HP:0000951|HP:0000961|HP:0100295|HP:0000278|HP:0012252|HP:0030057|HP:0002817|HP:0002827|HP:0002808|HP:0002803|HP:0002804|HP:0000508|HP:0000504|HP:0000598|HP:0000597|HP:0012515|HP:0001172|HP:0001156|HP:0001167|HP:0001159|HP:0025104|HP:0010946|HP:0010936|HP:0010935|HP:0009942|HP:0009944|HP:0010885|HP:0010866|HP:0009883|HP:0009882|HP:0003764|HP:0003712|HP:0002597|HP:0001231|HP:0006101|HP:0006009|HP:0009997|HP:0009999|HP:0001220|HP:0000066|HP:0000064|HP:0000060|HP:0000059|HP:0000058|HP:0000077|HP:0000075|HP:0001377|HP:0001376|HP:0000039|HP:0000055|HP:0000056|HP:0000047|HP:0002684|HP:0000023|HP:0008873|HP:0002664|HP:0003995|HP:0000002|HP:0001328|HP:0002673|HP:0008905|HP:0000189|HP:0000185|HP:0000190|HP:0000164|HP:0000161|HP:0000158|HP:0000157|HP:0000159|HP:0000175|HP:0000177|HP:0000168|HP:0000154|HP:0007665|HP:0006335|HP:0410030|HP:0002705|HP:0006292|HP:0006261|HP:0006262|HP:0006265|HP:0000126|HP:0002750|HP:0002714|HP:0003367|HP:0003368|HP:0003366|HP:0003330|HP:0003312|HP:0003319|HP:0011800|HP:0100541|HP:0009466|HP:0003577|HP:0008402|HP:0100790|HP:0100798|HP:0009843|HP:0009826|HP:0200007|HP:0008501|HP:0009832|HP:0009835|HP:0009815|HP:0010807|HP:0009768|HP:0009767|HP:0010733|HP:0004209|HP:0009099|HP:0004299|HP:0004298|HP:0004279|HP:0004220|HP:0000637|HP:0011355|HP:0011362|HP:0000684|HP:0011339|HP:0000678|HP:0000674|HP:0000677|HP:0000692|HP:0011328|HP:0000689|HP:0011314|HP:0011304|HP:0000668|HP:0004322|HP:0005622|HP:0000960|HP:0005819|HP:0009381|HP:0040194|HP:0009370|HP:0000286|HP:0000288|HP:0001597|HP:0001596|HP:0000260|HP:0000256|HP:0000272|HP:0005107|HP:0002818|HP:0002812|HP:0002813|HP:0002823|HP:0030084|HP:0000240|HP:0000239|HP:0000235|HP:0001837|HP:0001805|HP:0004097|HP:0000592|HP:0000591|HP:0011220 18 chr1:1020061-1020904 chr1 1020061 1020904 843 0.412124484316271 Category_1 Category_1 0.443786480690751 Category_1 Category_1 ENSG00000107404|ENSG00000230368|ENSG00000162572|ENSG00000169962|ENSG00000131584|ENSG00000224051|ENSG00000223663|ENSG00000131591|ENSG00000175756|ENSG00000234711|ENSG00000162576|ENSG00000197785|ENSG00000217801|ENSG00000127054|ENSG00000169972|ENSG00000215915|ENSG00000237330|ENSG00000242590|ENSG00000160087|ENSG00000273443|ENSG00000240731|ENSG00000230415|ENSG00000188157 DVL1|FAM41C|SCNN1D|TAS1R3|ACAP3|GLTPD1|RP5-890O3.3|C1orf159|AURKAIP1|TUBB8P11|MXRA8|ATAD3A|RP11-465B22.3|CPSF3L|PUSL1|ATAD3C|RNF223|RP11-54O7.14|UBE2J2|RP11-54O7.18|RP5-890O3.9|RP5-902P8.10|AGRN protein-coding|lincRNA|pseudogene|sense_intronic Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant|Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive|Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive HP:0001172|HP:0001155|HP:0001156|HP:0001167|HP:0001159|HP:0025104|HP:0010946|HP:0010936|HP:0010935|HP:0010938|HP:0009942|HP:0009944|HP:0010885|HP:0010866|HP:0009883|HP:0009882|HP:0003764|HP:0003712|HP:0001249|HP:0002597|HP:0001263|HP:0001231|HP:0100886|HP:0006101|HP:0008736|HP:0006009|HP:0009997|HP:0009999|HP:0001220|HP:0000066|HP:0000064|HP:0000060|HP:0000059|HP:0000058|HP:0000077|HP:0000079|HP:0000078|HP:0000075|HP:0001377|HP:0001376|HP:0001371|HP:0001373|HP:0001367|HP:0000036|HP:0000039|HP:0000055|HP:0001385|HP:0000054|HP:0000056|HP:0000050|HP:0001384|HP:0000047|HP:0002683|HP:0002684|HP:0000023|HP:0000032|HP:0000035|HP:0000028|HP:0008873|HP:0002664|HP:0003995|HP:0000002|HP:0001328|HP:0002673|HP:0000006|HP:0002650|HP:0002644|HP:0008905|HP:0000189|HP:0000185|HP:0000190|HP:0000164|HP:0000161|HP:0000163|HP:0000158|HP:0000157|HP:0000159|HP:0000175|HP:0000177|HP:0000174|HP:0000168|HP:0000154|HP:0000153|HP:0000152|HP:0007665|HP:0006335|HP:0410030|HP:0002705|HP:0006292|HP:0006261|HP:0006262|HP:0006265|HP:0000118|HP:0000119|HP:0000126|HP:0002751|HP:0002750|HP:0002714|HP:0003367|HP:0003368|HP:0003366|HP:0003330|HP:0002007|HP:0003312|HP:0003319|HP:0011805|HP:0011800|HP:0100541|HP:0009466|HP:0003577|HP:0003549|HP:0008402|HP:0100790|HP:0100798|HP:0009843|HP:0009826|HP:0200007|HP:0200006|HP:0008501|HP:0009832|HP:0009835|HP:0009815|HP:0010807|HP:0009768|HP:0009767|HP:0010733|HP:0004209|HP:0009099|HP:0011389|HP:0004299|HP:0004298|HP:0004279|HP:0004220|HP:0000637|HP:0011355|HP:0011362|HP:0000684|HP:0011339|HP:0000678|HP:0000674|HP:0000677|HP:0000692|HP:0011328|HP:0000689|HP:0011314|HP:0012638|HP:0011304|HP:0001999|HP:0000668|HP:0004322|HP:0005622|HP:0000951|HP:0000960|HP:0005819|HP:0008050|HP:0009381|HP:0040194|HP:0009370|HP:0000286|HP:0000288|HP:0000278|HP:0000290|HP:0001595|HP:0001597|HP:0001596|HP:0000260|HP:0000256|HP:0000277|HP:0000271|HP:0000272|HP:0012243|HP:0005107|HP:0005105|HP:0002818|HP:0002817|HP:0002814|HP:0002812|HP:0002813|HP:0002827|HP:0002823|HP:0030084|HP:0002808|HP:0001574|HP:0000240|HP:0000239|HP:0000235|HP:0000234|HP:0001837|HP:0000508|HP:0001805|HP:0004097|HP:0000598|HP:0000582|HP:0000592|HP:0000591|HP:0011220|HP:0000549|HP:0025116|HP:0002493|HP:0002465|HP:0002463|HP:0001197|HP:0007210|HP:0001298|HP:0001276|HP:0001272|HP:0001273|HP:0001288|HP:0001250|HP:0001252|HP:0001251|HP:0001257|HP:0100840|HP:0410263|HP:0410280|HP:0007360|HP:0002540|HP:0002500|HP:0003808|HP:0003811|HP:0001392|HP:0000034|HP:0008872|HP:0001332|HP:0000007|HP:0001321|HP:0001317|HP:0000160|HP:0008936|HP:0001438|HP:0002012|HP:0002011|HP:0002066|HP:0002064|HP:0002060|HP:0003593|HP:0002240|HP:0003535|HP:0010719|HP:0009830|HP:0001098|HP:0000639|HP:0000648|HP:0001941|HP:0000609|HP:0001939|HP:0012639|HP:0005656|HP:0006989|HP:0004328|HP:0008056|HP:0008058|HP:0007700|HP:0000276|HP:0000587|HP:0012547|HP:0000565|HP:0000539|HP:0000534|HP:0001883|HP:0000545|HP:0002460|HP:0010850|HP:0002421|HP:0003749|HP:0003722|HP:0003701|HP:0001291|HP:0001270|HP:0001283|HP:0001284|HP:0001265|HP:0025270|HP:0007340|HP:0010978|HP:0002515|HP:0003803|HP:0025373|HP:0001374|HP:0001388|HP:0410011|HP:0001324|HP:0001311|HP:0001315|HP:0031108|HP:0025429|HP:0008997|HP:0001446|HP:0002795|HP:0002793|HP:0002792|HP:0025401|HP:0001435|HP:0002747|HP:0002719|HP:0002715|HP:0002020|HP:0002033|HP:0004661|HP:0003325|HP:0002015|HP:0003306|HP:0003324|HP:0005943|HP:0002088|HP:0002086|HP:0002098|HP:0002094|HP:0002093|HP:0002091|HP:0003398|HP:0003388|HP:0100711|HP:0004885|HP:0003547|HP:0004889|HP:0002205|HP:0008443|HP:0007178|HP:0031826|HP:0006824|HP:0009077|HP:0000651|HP:0000602|HP:0009053|HP:0009046|HP:0011354|HP:0009005|HP:0005659|HP:0004303|HP:0004302|HP:0100285|HP:0000961|HP:0100295|HP:0012252|HP:0030057|HP:0002803|HP:0002804|HP:0000504|HP:0000597|HP:0012515 19 chr1:102104720-102105720 chr1 102104720 102105720 1000 0.487305553513908 Category_1 Category_1 0.577099489307387 Category_1 Category_1 ENSG00000118733 OLFM3 protein-coding — — 20 chr1:10230586-10231586 chr1 10230586 10231586 1000 0.640327082486801 Category_1 Category_1 1.16360820678476 Category_7 Category_4 ENSG00000054523 KIF1B protein-coding Pheochromocytoma, 171300 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Somatic mutation, Autosomal dominant; Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant HP:0025142|HP:0002460|HP:0008629|HP:0010935|HP:0010927|HP:0032263|HP:0003745|HP:0025269|HP:0001293|HP:0001291|HP:0001288|HP:0001284|HP:0100835|HP:0100836|HP:0001251|HP:0001265|HP:0002597|HP:0002574|HP:0008776|HP:0007400|HP:0100852|HP:0003829|HP:0012072|HP:0000095|HP:0000096|HP:0000093|HP:0000077|HP:0000079|HP:0033823|HP:0007550|HP:0002664|HP:0001324|HP:0001342|HP:0002668|HP:0000006|HP:0001337|HP:0001336|HP:0002666|HP:0001311|HP:0002640|HP:0002653|HP:0001315|HP:0000152|HP:0007686|HP:0031284|HP:0000118|HP:0000119|HP:0001428|HP:0001438|HP:0002018|HP:0002017|HP:0002027|HP:0002014|HP:0003345|HP:0002011|HP:0100530|HP:0011805|HP:0002086|HP:0100545|HP:0003378|HP:0003376|HP:0003383|HP:0003384|HP:0003380|HP:0002277|HP:0002270|HP:0003574|HP:0003581|HP:0003528|HP:0009726|HP:0009711|HP:0009830|HP:0001095|HP:0001098|HP:0003639|HP:0031826|HP:0006824|HP:0011389|HP:0005584|HP:0001962|HP:0000616|HP:0001945|HP:0001920|HP:0001939|HP:0001903|HP:0011355|HP:0011354|HP:0009027|HP:0001992|HP:0012639|HP:0012638|HP:0004325|HP:0004323|HP:0003005|HP:0004328|HP:0004308|HP:0004305|HP:0000957|HP:0000953|HP:0000951|HP:0045010|HP:0040131|HP:0008062|HP:0008053|HP:0008056|HP:0008046|HP:0011675|HP:0007700|HP:0012252|HP:0000271|HP:0002814|HP:0002813|HP:0030067|HP:0001574|HP:0000234|HP:0001824|HP:0000508|HP:0000598|HP:0001892|HP:0012547|HP:0000553|HP:0000570|HP:0001871|HP:0012531|HP:0001877 21 chr1:1027008-1027943 chr1 1027008 1027943 935 0.652282594601843 Category_1 Category_1 0.596779673962334 Category_1 Category_1 ENSG00000131584|ENSG00000188290|ENSG00000160075|ENSG00000131591|ENSG00000162572|ENSG00000187634|ENSG00000107404|ENSG00000223663|ENSG00000169962|ENSG00000221978|ENSG00000127054|ENSG00000186891|ENSG00000224870|ENSG00000186827|ENSG00000228794|ENSG00000230415|ENSG00000215791|ENSG00000215014|ENSG00000188976|ENSG00000187642|ENSG00000078808|ENSG00000188157|ENSG00000224051|ENSG00000160087|ENSG00000162576|ENSG00000175756|ENSG00000197785|ENSG00000264293|ENSG00000176022|ENSG00000240731|ENSG00000272512|ENSG00000242485|ENSG00000272455 ACAP3|HES4|SSU72|C1orf159|SCNN1D|SAMD11|DVL1|RP5-890O3.3|TAS1R3|CCNL2|CPSF3L|TNFRSF18|RP4-758J18.2|TNFRSF4|LINC01128|RP5-902P8.10|AL645728.2|AL645728.1|NOC2L|C1orf170|SDF4|AGRN|GLTPD1|UBE2J2|MXRA8|AURKAIP1|ATAD3A|RN7SL657P|B3GALT6|RP5-890O3.9|RP11-54O7.17|MRPL20|RP4-758J18.13 protein-coding|pseudogene|processed_transcript|lincRNA|misc_RNA|sense_intronic Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant|?Immunodeficiency 16, 615593 (3), Autosomal recessive|Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive|Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive|Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive; Al-Gazali syndrome, 609465 (3), Autosomal recessive HP:0001172|HP:0001155|HP:0001156|HP:0001167|HP:0001159|HP:0025104|HP:0010946|HP:0010936|HP:0010935|HP:0010938|HP:0009942|HP:0009944|HP:0010885|HP:0010866|HP:0009883|HP:0009882|HP:0003764|HP:0003712|HP:0001249|HP:0002597|HP:0001263|HP:0001231|HP:0100886|HP:0006101|HP:0008736|HP:0006009|HP:0009997|HP:0009999|HP:0001220|HP:0000066|HP:0000064|HP:0000060|HP:0000059|HP:0000058|HP:0000077|HP:0000079|HP:0000078|HP:0000075|HP:0001377|HP:0001376|HP:0001371|HP:0001373|HP:0001367|HP:0000036|HP:0000039|HP:0000055|HP:0001385|HP:0000054|HP:0000056|HP:0000050|HP:0001384|HP:0000047|HP:0002683|HP:0002684|HP:0000023|HP:0000032|HP:0000035|HP:0000028|HP:0008873|HP:0002664|HP:0003995|HP:0000002|HP:0001328|HP:0002673|HP:0000006|HP:0002650|HP:0002644|HP:0008905|HP:0000189|HP:0000185|HP:0000190|HP:0000164|HP:0000161|HP:0000163|HP:0000158|HP:0000157|HP:0000159|HP:0000175|HP:0000177|HP:0000174|HP:0000168|HP:0000154|HP:0000153|HP:0000152|HP:0007665|HP:0006335|HP:0410030|HP:0002705|HP:0006292|HP:0006261|HP:0006262|HP:0006265|HP:0000118|HP:0000119|HP:0000126|HP:0002751|HP:0002750|HP:0002714|HP:0003367|HP:0003368|HP:0003366|HP:0003330|HP:0002007|HP:0003312|HP:0003319|HP:0011805|HP:0011800|HP:0100541|HP:0009466|HP:0003577|HP:0003549|HP:0008402|HP:0100790|HP:0100798|HP:0009843|HP:0009826|HP:0200007|HP:0200006|HP:0008501|HP:0009832|HP:0009835|HP:0009815|HP:0010807|HP:0009768|HP:0009767|HP:0010733|HP:0004209|HP:0009099|HP:0011389|HP:0004299|HP:0004298|HP:0004279|HP:0004220|HP:0000637|HP:0011355|HP:0011362|HP:0000684|HP:0011339|HP:0000678|HP:0000674|HP:0000677|HP:0000692|HP:0011328|HP:0000689|HP:0011314|HP:0012638|HP:0011304|HP:0001999|HP:0000668|HP:0004322|HP:0005622|HP:0000951|HP:0000960|HP:0005819|HP:0008050|HP:0009381|HP:0040194|HP:0009370|HP:0000286|HP:0000288|HP:0000278|HP:0000290|HP:0001595|HP:0001597|HP:0001596|HP:0000260|HP:0000256|HP:0000277|HP:0000271|HP:0000272|HP:0012243|HP:0005107|HP:0005105|HP:0002818|HP:0002817|HP:0002814|HP:0002812|HP:0002813|HP:0002827|HP:0002823|HP:0030084|HP:0002808|HP:0001574|HP:0000240|HP:0000239|HP:0000235|HP:0000234|HP:0001837|HP:0000508|HP:0001805|HP:0004097|HP:0000598|HP:0000582|HP:0000592|HP:0000591|HP:0011220|HP:0000549|HP:0410280|HP:0010978|HP:0000007|HP:0012145|HP:0025408|HP:0001438|HP:0002715|HP:0002721|HP:0002012|HP:0100763|HP:0003621|HP:0005561|HP:0001903|HP:0008069|HP:0001871|HP:0001878|HP:0001877|HP:0001876|HP:0002460|HP:0001197|HP:0010850|HP:0002421|HP:0003749|HP:0003722|HP:0003701|HP:0001291|HP:0001270|HP:0001288|HP:0001283|HP:0001284|HP:0001250|HP:0001252|HP:0001251|HP:0001265|HP:0025270|HP:0007340|HP:0002515|HP:0003808|HP:0003803|HP:0025373|HP:0001374|HP:0001388|HP:0008872|HP:0410011|HP:0001324|HP:0001311|HP:0001315|HP:0031108|HP:0025429|HP:0008997|HP:0001446|HP:0002795|HP:0002793|HP:0002792|HP:0025401|HP:0001435|HP:0002747|HP:0002719|HP:0002020|HP:0002033|HP:0004661|HP:0003325|HP:0002015|HP:0003306|HP:0003324|HP:0005943|HP:0002088|HP:0002086|HP:0002098|HP:0002094|HP:0002093|HP:0002091|HP:0003398|HP:0003388|HP:0100711|HP:0004885|HP:0003547|HP:0004889|HP:0002205|HP:0009830|HP:0008443|HP:0007178|HP:0031826|HP:0006824|HP:0009077|HP:0000639|HP:0000651|HP:0000602|HP:0009053|HP:0009046|HP:0011354|HP:0009005|HP:0012639|HP:0005659|HP:0004303|HP:0004302|HP:0100285|HP:0000961|HP:0100295|HP:0012252|HP:0000276|HP:0030057|HP:0002803|HP:0002804|HP:0000504|HP:0000597|HP:0012547|HP:0000565|HP:0012515|HP:0025116|HP:0002493|HP:0002465|HP:0002463|HP:0007210|HP:0001298|HP:0001276|HP:0001272|HP:0001273|HP:0001257|HP:0100840|HP:0410263|HP:0007360|HP:0002540|HP:0002500|HP:0003811|HP:0001392|HP:0000034|HP:0001332|HP:0001321|HP:0001317|HP:0000160|HP:0008936|HP:0002011|HP:0002066|HP:0002064|HP:0002060|HP:0003593|HP:0002240|HP:0003535|HP:0010719|HP:0001098|HP:0000648|HP:0001941|HP:0000609|HP:0001939|HP:0005656|HP:0006989|HP:0004328|HP:0008056|HP:0008058|HP:0007700|HP:0000587|HP:0000539|HP:0000534|HP:0001883|HP:0000545|HP:0001181|HP:0001166|HP:0001191|HP:0001193|HP:0001297|HP:0001290|HP:0100807|HP:0001239|HP:0001238|HP:0100864|HP:0003865|HP:0008807|HP:0001382|HP:0001363|HP:0002693|HP:0001357|HP:0008897|HP:0008828|HP:0012095|HP:0008818|HP:0008824|HP:0002663|HP:0002659|HP:0002656|HP:0002652|HP:0002651|HP:0001319|HP:0002616|HP:0002617|HP:0003956|HP:0012179|HP:0005008|HP:0500087|HP:0006243|HP:0002783|HP:0002779|HP:0002778|HP:0002757|HP:0002756|HP:0003336|HP:0003301|HP:0003300|HP:0002089|HP:0002090|HP:0030962|HP:0009465|HP:0002209|HP:0100774|HP:0009726|HP:0009836|HP:0008453|HP:0100699|HP:0004970|HP:0004942|HP:0004233|HP:0001965|HP:0000647|HP:0001933|HP:0010049|HP:0010051|HP:0011341|HP:0000691|HP:0012647|HP:0012649|HP:0000670|HP:0004325|HP:0004323|HP:0004334|HP:0005607|HP:0000987|HP:0000963|HP:0000939|HP:0000938|HP:0000932|HP:0100240|HP:0100238|HP:0000946|HP:0000944|HP:0000940|HP:0008070|HP:0008065|HP:0012294|HP:0000269|HP:0006439|HP:0005106|HP:0002815|HP:0002828|HP:0005037|HP:0000238|HP:0001822|HP:0000501|HP:0001832|HP:0001892|HP:0012512|HP:0000543 22 chr1:102826343-102827343 chr1 102826343 102827343 1000 0.653662008638046 Category_1 Category_1 0.955345746961471 Category_5 Category_3 ENSG00000060718 COL11A1 protein-coding Fibrochondrogenesis 1, 228520 (3), Autosomal recessive; Stickler syndrome, type II, 604841 (3), Autosomal dominant; Marshall syndrome, 154780 (3), Autosomal dominant; Deafness, autosomal dominant 37, 618533 (3), Autosomal dominant; {Lumbar disc herniation, susceptibility to}, 603932 (3) HP:0025142|HP:0001155|HP:0001156|HP:0001166|HP:0001167|HP:0010938|HP:0001197|HP:0010866|HP:0100807|HP:0001231|HP:0001238|HP:0100886|HP:0100840|HP:0100865|HP:0006009|HP:0010978|HP:0002538|HP:0001220|HP:0002514|HP:0003826|HP:0006095|HP:0001371|HP:0001367|HP:0001369|HP:0001382|HP:0012019|HP:0002683|HP:0002684|HP:0002692|HP:0001357|HP:0002688|HP:0007550|HP:0008873|HP:0006200|HP:0000002|HP:0002656|HP:0002655|HP:0002673|HP:0000007|HP:0000006|HP:0002652|HP:0002644|HP:0003956|HP:0008905|HP:0000189|HP:0000179|HP:0000193|HP:0000164|HP:0000160|HP:0000163|HP:0000162|HP:0000157|HP:0000159|HP:0000175|HP:0000177|HP:0000172|HP:0000174|HP:0000153|HP:0000152|HP:0007663|HP:0002705|HP:0006261|HP:0002781|HP:0000118|HP:0002795|HP:0002758|HP:0002738|HP:0002719|HP:0002715|HP:0003367|HP:0003366|HP:0002011|HP:0002007|HP:0003312|HP:0003319|HP:0003301|HP:0011805|HP:0011800|HP:0002087|HP:0002086|HP:0002093|HP:0002060|HP:0003375|HP:0003577|HP:0200102|HP:0003549|HP:0008417|HP:0100790|HP:0009826|HP:0200006|HP:0009815|HP:0001098|HP:0004209|HP:0011389|HP:0004299|HP:0004298|HP:0004279|HP:0000639|HP:0000646|HP:0001939|HP:0011362|HP:0011339|HP:0000675|HP:0011328|HP:0011314|HP:0012647|HP:0012649|HP:0000653|HP:0012639|HP:0001999|HP:0004322|HP:0004328|HP:0004327|HP:0005622|HP:0000969|HP:0000966|HP:0000947|HP:0000946|HP:0000944|HP:0000940|HP:0008070|HP:0008050|HP:0012283|HP:0012284|HP:0000286|HP:0000288|HP:0000290|HP:0001595|HP:0001597|HP:0000260|HP:0001591|HP:0012252|HP:0000277|HP:0000271|HP:0000272|HP:0006456|HP:0007773|HP:0005106|HP:0005105|HP:0006407|HP:0002818|HP:0002817|HP:0002814|HP:0002815|HP:0002813|HP:0002829|HP:0002823|HP:0030084|HP:0005086|HP:0006361|HP:0001572|HP:0001574|HP:0000239|HP:0000235|HP:0000234|HP:0000505|HP:0000504|HP:0000501|HP:0001804|HP:0001800|HP:0004097|HP:0000598|HP:0012547|HP:0000565|HP:0000541|HP:0012531|HP:0000539|HP:0000534|HP:0000549|HP:0000545 23 chr1:1030927-1031493 chr1 1030927 1031493 566 0.517962321172007 Category_1 Category_1 0.341275328168102 Category_1 Category_1 ENSG00000186891|ENSG00000223663|ENSG00000131584|ENSG00000215014|ENSG00000188157|ENSG00000221978|ENSG00000162576|ENSG00000160087|ENSG00000162572|ENSG00000187642|ENSG00000197785|ENSG00000187634|ENSG00000188976|ENSG00000215791|ENSG00000240731|ENSG00000160075|ENSG00000188290|ENSG00000224051|ENSG00000078808|ENSG00000186827|ENSG00000264293|ENSG00000272455|ENSG00000131591|ENSG00000224870|ENSG00000127054|ENSG00000242485|ENSG00000272512|ENSG00000176022|ENSG00000169962|ENSG00000228794|ENSG00000107404|ENSG00000230415|ENSG00000175756 TNFRSF18|RP5-890O3.3|ACAP3|AL645728.1|AGRN|CCNL2|MXRA8|UBE2J2|SCNN1D|C1orf170|ATAD3A|SAMD11|NOC2L|AL645728.2|RP5-890O3.9|SSU72|HES4|GLTPD1|SDF4|TNFRSF4|RN7SL657P|RP4-758J18.13|C1orf159|RP4-758J18.2|CPSF3L|MRPL20|RP11-54O7.17|B3GALT6|TAS1R3|LINC01128|DVL1|RP5-902P8.10|AURKAIP1 protein-coding|pseudogene|sense_intronic|misc_RNA|lincRNA|processed_transcript Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive|Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive|?Immunodeficiency 16, 615593 (3), Autosomal recessive|Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive; Al-Gazali syndrome, 609465 (3), Autosomal recessive|Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant HP:0001155|HP:0002460|HP:0001197|HP:0010850|HP:0002421|HP:0003749|HP:0003722|HP:0003701|HP:0001291|HP:0001270|HP:0001288|HP:0001283|HP:0001284|HP:0001250|HP:0001252|HP:0001251|HP:0001249|HP:0001265|HP:0410280|HP:0025270|HP:0007340|HP:0010978|HP:0002515|HP:0003808|HP:0003803|HP:0025373|HP:0001374|HP:0001371|HP:0001373|HP:0001367|HP:0001388|HP:0001384|HP:0008872|HP:0410011|HP:0001324|HP:0000007|HP:0001311|HP:0002650|HP:0001315|HP:0002644|HP:0031108|HP:0000163|HP:0000174|HP:0000153|HP:0000152|HP:0025429|HP:0008997|HP:0000118|HP:0001446|HP:0002795|HP:0002793|HP:0002792|HP:0025401|HP:0001435|HP:0002751|HP:0002747|HP:0002719|HP:0002715|HP:0002020|HP:0002033|HP:0004661|HP:0003325|HP:0002015|HP:0003306|HP:0003324|HP:0005943|HP:0011805|HP:0002088|HP:0002086|HP:0002098|HP:0002094|HP:0002093|HP:0002091|HP:0003398|HP:0003388|HP:0100711|HP:0004885|HP:0003549|HP:0003547|HP:0004889|HP:0002205|HP:0009830|HP:0008443|HP:0007178|HP:0031826|HP:0006824|HP:0011389|HP:0009077|HP:0000639|HP:0000651|HP:0000602|HP:0009053|HP:0009046|HP:0011354|HP:0009005|HP:0012639|HP:0012638|HP:0001999|HP:0005659|HP:0004303|HP:0004302|HP:0100285|HP:0000951|HP:0000961|HP:0100295|HP:0000278|HP:0000290|HP:0012252|HP:0000277|HP:0000276|HP:0000271|HP:0030057|HP:0002817|HP:0002814|HP:0002827|HP:0002808|HP:0002803|HP:0002804|HP:0001574|HP:0000234|HP:0000508|HP:0000504|HP:0000598|HP:0000597|HP:0012547|HP:0000565|HP:0012515|HP:0000549|HP:0025116|HP:0002493|HP:0002465|HP:0002463|HP:0010938|HP:0007210|HP:0001298|HP:0001276|HP:0001272|HP:0001273|HP:0001263|HP:0001257|HP:0100886|HP:0100840|HP:0008736|HP:0410263|HP:0007360|HP:0002540|HP:0002500|HP:0003811|HP:0001392|HP:0000079|HP:0000078|HP:0000036|HP:0001385|HP:0000054|HP:0000050|HP:0002683|HP:0000032|HP:0000035|HP:0000034|HP:0000028|HP:0001332|HP:0000006|HP:0001321|HP:0001317|HP:0000160|HP:0008936|HP:0000119|HP:0001438|HP:0002012|HP:0002011|HP:0002007|HP:0002066|HP:0002064|HP:0002060|HP:0003593|HP:0002240|HP:0003535|HP:0010719|HP:0200006|HP:0001098|HP:0000648|HP:0001941|HP:0000609|HP:0001939|HP:0005656|HP:0006989|HP:0004328|HP:0008050|HP:0008056|HP:0008058|HP:0007700|HP:0001595|HP:0012243|HP:0005105|HP:0000582|HP:0000587|HP:0000539|HP:0000534|HP:0001883|HP:0000545|HP:0002597|HP:0002664|HP:0012145|HP:0025408|HP:0002721|HP:0100763|HP:0003621|HP:0005561|HP:0001903|HP:0008069|HP:0001871|HP:0001878|HP:0001877|HP:0001876|HP:0001172|HP:0001181|HP:0001166|HP:0001167|HP:0010946|HP:0010935|HP:0001191|HP:0001193|HP:0001297|HP:0001290|HP:0100807|HP:0001239|HP:0001238|HP:0100864|HP:0006009|HP:0003865|HP:0008807|HP:0000077|HP:0001377|HP:0001376|HP:0001382|HP:0001363|HP:0002693|HP:0001357|HP:0008897|HP:0008828|HP:0012095|HP:0008818|HP:0008824|HP:0002663|HP:0003995|HP:0000002|HP:0002659|HP:0002656|HP:0002673|HP:0002652|HP:0002651|HP:0001319|HP:0002616|HP:0002617|HP:0003956|HP:0012179|HP:0000164|HP:0000159|HP:0000175|HP:0000177|HP:0005008|HP:0410030|HP:0500087|HP:0006243|HP:0002783|HP:0002779|HP:0002778|HP:0000126|HP:0002757|HP:0002756|HP:0003367|HP:0003368|HP:0003366|HP:0003330|HP:0003336|HP:0003312|HP:0003319|HP:0003301|HP:0003300|HP:0011800|HP:0002089|HP:0002090|HP:0030962|HP:0009465|HP:0002209|HP:0100774|HP:0009726|HP:0009832|HP:0009836|HP:0009815|HP:0008453|HP:0100699|HP:0009768|HP:0004970|HP:0004942|HP:0004209|HP:0004233|HP:0001965|HP:0000647|HP:0001933|HP:0010049|HP:0010051|HP:0011355|HP:0011362|HP:0011341|HP:0000691|HP:0011314|HP:0012647|HP:0012649|HP:0000670|HP:0004325|HP:0004323|HP:0004322|HP:0004334|HP:0005607|HP:0005622|HP:0000987|HP:0000963|HP:0000939|HP:0000938|HP:0000932|HP:0100240|HP:0100238|HP:0000946|HP:0000944|HP:0000940|HP:0008070|HP:0008065|HP:0012294|HP:0000288|HP:0001597|HP:0000272|HP:0000269|HP:0006439|HP:0005106|HP:0002818|HP:0002815|HP:0002813|HP:0002828|HP:0002823|HP:0030084|HP:0005037|HP:0000238|HP:0000235|HP:0001822|HP:0000501|HP:0001832|HP:0004097|HP:0000592|HP:0000591|HP:0001892|HP:0011220|HP:0012512|HP:0000543|HP:0001156|HP:0001159|HP:0025104|HP:0010936|HP:0009942|HP:0009944|HP:0010885|HP:0010866|HP:0009883|HP:0009882|HP:0003764|HP:0003712|HP:0001231|HP:0006101|HP:0009997|HP:0009999|HP:0001220|HP:0000066|HP:0000064|HP:0000060|HP:0000059|HP:0000058|HP:0000075|HP:0000039|HP:0000055|HP:0000056|HP:0000047|HP:0002684|HP:0000023|HP:0008873|HP:0001328|HP:0008905|HP:0000189|HP:0000185|HP:0000190|HP:0000161|HP:0000158|HP:0000157|HP:0000168|HP:0000154|HP:0007665|HP:0006335|HP:0002705|HP:0006292|HP:0006261|HP:0006262|HP:0006265|HP:0002750|HP:0002714|HP:0100541|HP:0009466|HP:0003577|HP:0008402|HP:0100790|HP:0100798|HP:0009843|HP:0009826|HP:0200007|HP:0008501|HP:0009835|HP:0010807|HP:0009767|HP:0010733|HP:0009099|HP:0004299|HP:0004298|HP:0004279|HP:0004220|HP:0000637|HP:0000684|HP:0011339|HP:0000678|HP:0000674|HP:0000677|HP:0000692|HP:0011328|HP:0000689|HP:0011304|HP:0000668|HP:0000960|HP:0005819|HP:0009381|HP:0040194|HP:0009370|HP:0000286|HP:0001596|HP:0000260|HP:0000256|HP:0005107|HP:0002812|HP:0000240|HP:0000239|HP:0001837|HP:0001805 24 chr1:103106431-103107020 chr1 103106431 103107020 589 0.309917283853041 Category_1 Category_1 0.895982214935681 Category_4 Category_2 ENSG00000060718 COL11A1 protein-coding Fibrochondrogenesis 1, 228520 (3), Autosomal recessive; Stickler syndrome, type II, 604841 (3), Autosomal dominant; Marshall syndrome, 154780 (3), Autosomal dominant; Deafness, autosomal dominant 37, 618533 (3), Autosomal dominant; {Lumbar disc herniation, susceptibility to}, 603932 (3) HP:0025142|HP:0001155|HP:0001156|HP:0001166|HP:0001167|HP:0010938|HP:0001197|HP:0010866|HP:0100807|HP:0001231|HP:0001238|HP:0100886|HP:0100840|HP:0100865|HP:0006009|HP:0010978|HP:0002538|HP:0001220|HP:0002514|HP:0003826|HP:0006095|HP:0001371|HP:0001367|HP:0001369|HP:0001382|HP:0012019|HP:0002683|HP:0002684|HP:0002692|HP:0001357|HP:0002688|HP:0007550|HP:0008873|HP:0006200|HP:0000002|HP:0002656|HP:0002655|HP:0002673|HP:0000007|HP:0000006|HP:0002652|HP:0002644|HP:0003956|HP:0008905|HP:0000189|HP:0000179|HP:0000193|HP:0000164|HP:0000160|HP:0000163|HP:0000162|HP:0000157|HP:0000159|HP:0000175|HP:0000177|HP:0000172|HP:0000174|HP:0000153|HP:0000152|HP:0007663|HP:0002705|HP:0006261|HP:0002781|HP:0000118|HP:0002795|HP:0002758|HP:0002738|HP:0002719|HP:0002715|HP:0003367|HP:0003366|HP:0002011|HP:0002007|HP:0003312|HP:0003319|HP:0003301|HP:0011805|HP:0011800|HP:0002087|HP:0002086|HP:0002093|HP:0002060|HP:0003375|HP:0003577|HP:0200102|HP:0003549|HP:0008417|HP:0100790|HP:0009826|HP:0200006|HP:0009815|HP:0001098|HP:0004209|HP:0011389|HP:0004299|HP:0004298|HP:0004279|HP:0000639|HP:0000646|HP:0001939|HP:0011362|HP:0011339|HP:0000675|HP:0011328|HP:0011314|HP:0012647|HP:0012649|HP:0000653|HP:0012639|HP:0001999|HP:0004322|HP:0004328|HP:0004327|HP:0005622|HP:0000969|HP:0000966|HP:0000947|HP:0000946|HP:0000944|HP:0000940|HP:0008070|HP:0008050|HP:0012283|HP:0012284|HP:0000286|HP:0000288|HP:0000290|HP:0001595|HP:0001597|HP:0000260|HP:0001591|HP:0012252|HP:0000277|HP:0000271|HP:0000272|HP:0006456|HP:0007773|HP:0005106|HP:0005105|HP:0006407|HP:0002818|HP:0002817|HP:0002814|HP:0002815|HP:0002813|HP:0002829|HP:0002823|HP:0030084|HP:0005086|HP:0006361|HP:0001572|HP:0001574|HP:0000239|HP:0000235|HP:0000234|HP:0000505|HP:0000504|HP:0000501|HP:0001804|HP:0001800|HP:0004097|HP:0000598|HP:0012547|HP:0000565|HP:0000541|HP:0012531|HP:0000539|HP:0000534|HP:0000549|HP:0000545 25 chr1:1031493-1032059 chr1 1031493 1032059 566 0.64920927139369 Category_1 Category_1 0.667832017057457 Category_2 Category_1 ENSG00000162576|ENSG00000131591|ENSG00000160075|ENSG00000187634|ENSG00000187642|ENSG00000176022|ENSG00000272512|ENSG00000188976|ENSG00000175756|ENSG00000240731|ENSG00000127054|ENSG00000228794|ENSG00000131584|ENSG00000160087|ENSG00000215014|ENSG00000107404|ENSG00000188157|ENSG00000224870|ENSG00000264293|ENSG00000188290|ENSG00000272455|ENSG00000223663|ENSG00000162572|ENSG00000215791|ENSG00000197785|ENSG00000230415|ENSG00000224051|ENSG00000078808|ENSG00000242485|ENSG00000186891|ENSG00000221978|ENSG00000169962|ENSG00000186827 MXRA8|C1orf159|SSU72|SAMD11|C1orf170|B3GALT6|RP11-54O7.17|NOC2L|AURKAIP1|RP5-890O3.9|CPSF3L|LINC01128|ACAP3|UBE2J2|AL645728.1|DVL1|AGRN|RP4-758J18.2|RN7SL657P|HES4|RP4-758J18.13|RP5-890O3.3|SCNN1D|AL645728.2|ATAD3A|RP5-902P8.10|GLTPD1|SDF4|MRPL20|TNFRSF18|CCNL2|TAS1R3|TNFRSF4 protein-coding|lincRNA|sense_intronic|processed_transcript|misc_RNA|pseudogene Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive; Al-Gazali syndrome, 609465 (3), Autosomal recessive|Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant|Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive|Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive|?Immunodeficiency 16, 615593 (3), Autosomal recessive HP:0001172|HP:0001181|HP:0001155|HP:0001166|HP:0001167|HP:0002493|HP:0002463|HP:0010946|HP:0010935|HP:0010938|HP:0001197|HP:0001191|HP:0001193|HP:0001297|HP:0001290|HP:0100807|HP:0001270|HP:0001250|HP:0001252|HP:0001249|HP:0002597|HP:0001263|HP:0001239|HP:0001238|HP:0100886|HP:0100864|HP:0410280|HP:0006009|HP:0010978|HP:0003865|HP:0003808|HP:0008807|HP:0000077|HP:0000079|HP:0001377|HP:0001376|HP:0001371|HP:0001373|HP:0001367|HP:0001385|HP:0001388|HP:0001382|HP:0001384|HP:0002683|HP:0001363|HP:0002693|HP:0001357|HP:0008897|HP:0008872|HP:0008828|HP:0012095|HP:0008818|HP:0008824|HP:0002663|HP:0002664|HP:0003995|HP:0000002|HP:0001332|HP:0002659|HP:0002656|HP:0002673|HP:0000007|HP:0002652|HP:0002650|HP:0002651|HP:0001319|HP:0002644|HP:0002616|HP:0002617|HP:0003956|HP:0012179|HP:0000164|HP:0000163|HP:0000159|HP:0000175|HP:0000177|HP:0000174|HP:0000153|HP:0000152|HP:0005008|HP:0410030|HP:0500087|HP:0006243|HP:0002783|HP:0000118|HP:0002779|HP:0000119|HP:0002778|HP:0002795|HP:0002793|HP:0000126|HP:0002757|HP:0002756|HP:0002751|HP:0002719|HP:0002715|HP:0003367|HP:0003368|HP:0003366|HP:0003330|HP:0002011|HP:0002007|HP:0003336|HP:0003312|HP:0003319|HP:0005943|HP:0003301|HP:0003300|HP:0011805|HP:0011800|HP:0002089|HP:0002088|HP:0002086|HP:0002098|HP:0002094|HP:0002093|HP:0002090|HP:0002091|HP:0030962|HP:0009465|HP:0003593|HP:0003549|HP:0002209|HP:0002205|HP:0100774|HP:0009726|HP:0009832|HP:0009836|HP:0009815|HP:0001098|HP:0008453|HP:0100699|HP:0009768|HP:0004970|HP:0004942|HP:0004209|HP:0011389|HP:0004233|HP:0001965|HP:0000647|HP:0001933|HP:0010049|HP:0010051|HP:0011355|HP:0011362|HP:0011354|HP:0011341|HP:0000691|HP:0011314|HP:0012647|HP:0012649|HP:0000670|HP:0012639|HP:0012638|HP:0001999|HP:0004325|HP:0005656|HP:0004323|HP:0004322|HP:0004334|HP:0004328|HP:0005607|HP:0005622|HP:0000987|HP:0000951|HP:0000963|HP:0000939|HP:0000938|HP:0000932|HP:0100240|HP:0100238|HP:0000946|HP:0000944|HP:0000940|HP:0008070|HP:0008065|HP:0012294|HP:0000288|HP:0000290|HP:0001595|HP:0001597|HP:0012252|HP:0000277|HP:0000271|HP:0000272|HP:0000269|HP:0006439|HP:0005106|HP:0005105|HP:0002818|HP:0002817|HP:0002814|HP:0002815|HP:0002813|HP:0002827|HP:0002828|HP:0002823|HP:0030084|HP:0002808|HP:0005037|HP:0001574|HP:0000238|HP:0000235|HP:0000234|HP:0001822|HP:0000501|HP:0001832|HP:0004097|HP:0000598|HP:0000592|HP:0000591|HP:0000587|HP:0001892|HP:0011220|HP:0001871|HP:0000539|HP:0001883|HP:0012512|HP:0000543|HP:0000545|HP:0001156|HP:0001159|HP:0025104|HP:0010936|HP:0009942|HP:0009944|HP:0010885|HP:0010866|HP:0009883|HP:0009882|HP:0003764|HP:0003712|HP:0001231|HP:0006101|HP:0008736|HP:0009997|HP:0009999|HP:0001220|HP:0000066|HP:0000064|HP:0000060|HP:0000059|HP:0000058|HP:0000078|HP:0000075|HP:0000036|HP:0000039|HP:0000055|HP:0000054|HP:0000056|HP:0000050|HP:0000047|HP:0002684|HP:0000023|HP:0000032|HP:0000035|HP:0000028|HP:0008873|HP:0001328|HP:0000006|HP:0008905|HP:0000189|HP:0000185|HP:0000190|HP:0000161|HP:0000158|HP:0000157|HP:0000168|HP:0000154|HP:0007665|HP:0006335|HP:0002705|HP:0006292|HP:0006261|HP:0006262|HP:0006265|HP:0002750|HP:0002714|HP:0100541|HP:0009466|HP:0003577|HP:0008402|HP:0100790|HP:0100798|HP:0009843|HP:0009826|HP:0200007|HP:0200006|HP:0008501|HP:0009835|HP:0010807|HP:0009767|HP:0010733|HP:0009099|HP:0004299|HP:0004298|HP:0004279|HP:0004220|HP:0000637|HP:0000684|HP:0011339|HP:0000678|HP:0000674|HP:0000677|HP:0000692|HP:0011328|HP:0000689|HP:0011304|HP:0000668|HP:0000960|HP:0005819|HP:0008050|HP:0009381|HP:0040194|HP:0009370|HP:0000286|HP:0000278|HP:0001596|HP:0000260|HP:0000256|HP:0012243|HP:0005107|HP:0002812|HP:0000240|HP:0000239|HP:0001837|HP:0000508|HP:0001805|HP:0000582|HP:0000549|HP:0002460|HP:0010850|HP:0002421|HP:0003749|HP:0003722|HP:0003701|HP:0001291|HP:0001288|HP:0001283|HP:0001284|HP:0001251|HP:0001265|HP:0025270|HP:0007340|HP:0002515|HP:0003803|HP:0025373|HP:0001374|HP:0410011|HP:0001324|HP:0001311|HP:0001315|HP:0031108|HP:0025429|HP:0008997|HP:0001446|HP:0002792|HP:0025401|HP:0001435|HP:0002747|HP:0002020|HP:0002033|HP:0004661|HP:0003325|HP:0002015|HP:0003306|HP:0003324|HP:0003398|HP:0003388|HP:0100711|HP:0004885|HP:0003547|HP:0004889|HP:0009830|HP:0008443|HP:0007178|HP:0031826|HP:0006824|HP:0009077|HP:0000639|HP:0000651|HP:0000602|HP:0009053|HP:0009046|HP:0009005|HP:0005659|HP:0004303|HP:0004302|HP:0100285|HP:0000961|HP:0100295|HP:0000276|HP:0030057|HP:0002803|HP:0002804|HP:0000504|HP:0000597|HP:0012547|HP:0000565|HP:0012515|HP:0025116|HP:0002465|HP:0007210|HP:0001298|HP:0001276|HP:0001272|HP:0001273|HP:0001257|HP:0100840|HP:0410263|HP:0007360|HP:0002540|HP:0002500|HP:0003811|HP:0001392|HP:0000034|HP:0001321|HP:0001317|HP:0000160|HP:0008936|HP:0001438|HP:0002012|HP:0002066|HP:0002064|HP:0002060|HP:0002240|HP:0003535|HP:0010719|HP:0000648|HP:0001941|HP:0000609|HP:0001939|HP:0006989|HP:0008056|HP:0008058|HP:0007700|HP:0000534|HP:0012145|HP:0025408|HP:0002721|HP:0100763|HP:0003621|HP:0005561|HP:0001903|HP:0008069|HP:0001878|HP:0001877|HP:0001876 26 chr1:103336595-103337102 chr1 103336595 103337102 507 0.531175312772629 Category_1 Category_1 0.700607762350356 Category_2 Category_1 — LOC101928436 protein-coding — — 27 chr1:10431514-10432190 chr1 10431514 10432190 676 0.610524849551646 Category_1 Category_1 0.827911576834501 Category_3 Category_2 ENSG00000251503|ENSG00000054523|ENSG00000178585 CENPS-CORT|KIF1B|CTNNBIP1 protein-coding Pheochromocytoma, 171300 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Somatic mutation, Autosomal dominant; Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant HP:0025142|HP:0002460|HP:0008629|HP:0010935|HP:0010927|HP:0032263|HP:0003745|HP:0025269|HP:0001293|HP:0001291|HP:0001288|HP:0001284|HP:0100835|HP:0100836|HP:0001251|HP:0001265|HP:0002597|HP:0002574|HP:0008776|HP:0007400|HP:0100852|HP:0003829|HP:0012072|HP:0000095|HP:0000096|HP:0000093|HP:0000077|HP:0000079|HP:0033823|HP:0007550|HP:0002664|HP:0001324|HP:0001342|HP:0002668|HP:0000006|HP:0001337|HP:0001336|HP:0002666|HP:0001311|HP:0002640|HP:0002653|HP:0001315|HP:0000152|HP:0007686|HP:0031284|HP:0000118|HP:0000119|HP:0001428|HP:0001438|HP:0002018|HP:0002017|HP:0002027|HP:0002014|HP:0003345|HP:0002011|HP:0100530|HP:0011805|HP:0002086|HP:0100545|HP:0003378|HP:0003376|HP:0003383|HP:0003384|HP:0003380|HP:0002277|HP:0002270|HP:0003574|HP:0003581|HP:0003528|HP:0009726|HP:0009711|HP:0009830|HP:0001095|HP:0001098|HP:0003639|HP:0031826|HP:0006824|HP:0011389|HP:0005584|HP:0001962|HP:0000616|HP:0001945|HP:0001920|HP:0001939|HP:0001903|HP:0011355|HP:0011354|HP:0009027|HP:0001992|HP:0012639|HP:0012638|HP:0004325|HP:0004323|HP:0003005|HP:0004328|HP:0004308|HP:0004305|HP:0000957|HP:0000953|HP:0000951|HP:0045010|HP:0040131|HP:0008062|HP:0008053|HP:0008056|HP:0008046|HP:0011675|HP:0007700|HP:0012252|HP:0000271|HP:0002814|HP:0002813|HP:0030067|HP:0001574|HP:0000234|HP:0001824|HP:0000508|HP:0000598|HP:0001892|HP:0012547|HP:0000553|HP:0000570|HP:0001871|HP:0012531|HP:0001877 28 chr1:10449769-10450769 chr1 10449769 10450769 1000 0.439453549624805 Category_1 Category_1 0.522327712731682 Category_1 Category_1 ENSG00000241563|ENSG00000171603|ENSG00000178585 CORT|CLSTN1|CTNNBIP1 protein-coding — — 29 chr1:10492434-10493434 chr1 10492434 10493434 1000 0.244702242312425 Category_1 Category_1 0.898507798988686 Category_4 Category_2 ENSG00000142655|ENSG00000175262|ENSG00000215785|ENSG00000264181 PEX14|C1orf127|CFL1P6|AL713997.1 protein-coding|pseudogene|miRNA Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive HP:0001155|HP:0002493|HP:0001133|HP:0001123|HP:0010965|HP:0010946|HP:0010936|HP:0010935|HP:0010938|HP:0001197|HP:0008572|HP:0009891|HP:0001290|HP:0001291|HP:0001276|HP:0001284|HP:0001250|HP:0001252|HP:0001251|HP:0002577|HP:0001263|HP:0001257|HP:0410280|HP:0008665|HP:0002538|HP:0002536|HP:0033643|HP:0003808|HP:0003811|HP:0012072|HP:0001396|HP:0001399|HP:0001392|HP:0000077|HP:0000079|HP:0000078|HP:0000036|HP:0000055|HP:0000056|HP:0000047|HP:0002683|HP:0001347|HP:0000032|HP:0000035|HP:0000028|HP:0008872|HP:0007477|HP:0000002|HP:0001324|HP:0000007|HP:0000003|HP:0001311|HP:0002652|HP:0001315|HP:0000163|HP:0000157|HP:0000174|HP:0001476|HP:0000153|HP:0000152|HP:0008936|HP:0007598|HP:0000118|HP:0000119|HP:0002795|HP:0000126|HP:0000107|HP:0001438|HP:0001410|HP:0001406|HP:0002024|HP:0002021|HP:0003330|HP:0002012|HP:0002011|HP:0003336|HP:0003323|HP:0011805|HP:0002086|HP:0100543|HP:0002093|HP:0002060|HP:0003593|HP:0002269|HP:0003577|HP:0002242|HP:0002240|HP:0200006|HP:0001098|HP:0031826|HP:0006824|HP:0006829|HP:0031865|HP:0011389|HP:0000639|HP:0000648|HP:0000610|HP:0000627|HP:0001928|HP:0001939|HP:0011356|HP:0011344|HP:0011354|HP:0011328|HP:0000662|HP:0001992|HP:0011314|HP:0012639|HP:0012638|HP:0001999|HP:0004325|HP:0004323|HP:0004322|HP:0031956|HP:0004328|HP:0031964|HP:0000954|HP:0000952|HP:0000951|HP:0008064|HP:0008050|HP:0040194|HP:0040195|HP:0011675|HP:0008034|HP:0007703|HP:0012294|HP:0000286|HP:0000290|HP:0000260|HP:0000256|HP:0000277|HP:0000271|HP:0000270|HP:0012243|HP:0000268|HP:0005105|HP:0002817|HP:0001574|HP:0000240|HP:0000239|HP:0000235|HP:0000234|HP:0000252|HP:0000508|HP:0000505|HP:0000504|HP:0000501|HP:0000598|HP:0000582|HP:0000587|HP:0012547|HP:0000553|HP:0000556|HP:0001871|HP:0000532|HP:0000549 30 chr1:10510304-10510867 chr1 10510304 10510867 563 0.557292986566752 Category_1 Category_1 0.773286024568846 Category_3 Category_2 ENSG00000120948|ENSG00000207213|ENSG00000215785|ENSG00000175262|ENSG00000264181|ENSG00000225158|ENSG00000142655 TARDBP|Y_RNA|CFL1P6|C1orf127|AL713997.1|HSPE1P24|PEX14 protein-coding|misc_RNA|pseudogene|miRNA Frontotemporal lobar degeneration, TARDBP-related, 612069 (3), Autosomal dominant; Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3), Autosomal dominant|Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive HP:0025142|HP:0002492|HP:0002493|HP:0002460|HP:0002442|HP:0002450|HP:0008619|HP:0007256|HP:0003701|HP:0003700|HP:0001276|HP:0001268|HP:0001283|HP:0001251|HP:0001265|HP:0001260|HP:0001257|HP:0100851|HP:0100852|HP:0025270|HP:0007372|HP:0007373|HP:0007367|HP:0007354|HP:0002538|HP:0003808|HP:0025354|HP:0001328|HP:0001324|HP:0000006|HP:0001315|HP:0001300|HP:0000153|HP:0000152|HP:0025425|HP:0012103|HP:0000118|HP:0002795|HP:0002793|HP:0002747|HP:0002017|HP:0002015|HP:0002011|HP:0003324|HP:0011805|HP:0002087|HP:0002086|HP:0100543|HP:0002094|HP:0002093|HP:0003398|HP:0003394|HP:0002062|HP:0002060|HP:0002073|HP:0002071|HP:0002273|HP:0003584|HP:0003581|HP:0002300|HP:0007190|HP:0031826|HP:0011389|HP:0000605|HP:0001939|HP:0012639|HP:0012638|HP:0004305|HP:0012252|HP:0000271|HP:0000234|HP:0000508|HP:0000598|HP:0012531|HP:0000549|HP:0001155|HP:0001133|HP:0001123|HP:0010965|HP:0010946|HP:0010936|HP:0010935|HP:0010938|HP:0001197|HP:0008572|HP:0009891|HP:0001290|HP:0001291|HP:0001284|HP:0001250|HP:0001252|HP:0002577|HP:0001263|HP:0410280|HP:0008665|HP:0002536|HP:0033643|HP:0003811|HP:0012072|HP:0001396|HP:0001399|HP:0001392|HP:0000077|HP:0000079|HP:0000078|HP:0000036|HP:0000055|HP:0000056|HP:0000047|HP:0002683|HP:0001347|HP:0000032|HP:0000035|HP:0000028|HP:0008872|HP:0007477|HP:0000002|HP:0000007|HP:0000003|HP:0001311|HP:0002652|HP:0000163|HP:0000157|HP:0000174|HP:0001476|HP:0008936|HP:0007598|HP:0000119|HP:0000126|HP:0000107|HP:0001438|HP:0001410|HP:0001406|HP:0002024|HP:0002021|HP:0003330|HP:0002012|HP:0003336|HP:0003323|HP:0003593|HP:0002269|HP:0003577|HP:0002242|HP:0002240|HP:0200006|HP:0001098|HP:0006824|HP:0006829|HP:0031865|HP:0000639|HP:0000648|HP:0000610|HP:0000627|HP:0001928|HP:0011356|HP:0011344|HP:0011354|HP:0011328|HP:0000662|HP:0001992|HP:0011314|HP:0001999|HP:0004325|HP:0004323|HP:0004322|HP:0031956|HP:0004328|HP:0031964|HP:0000954|HP:0000952|HP:0000951|HP:0008064|HP:0008050|HP:0040194|HP:0040195|HP:0011675|HP:0008034|HP:0007703|HP:0012294|HP:0000286|HP:0000290|HP:0000260|HP:0000256|HP:0000277|HP:0000270|HP:0012243|HP:0000268|HP:0005105|HP:0002817|HP:0001574|HP:0000240|HP:0000239|HP:0000235|HP:0000252|HP:0000505|HP:0000504|HP:0000501|HP:0000582|HP:0000587|HP:0012547|HP:0000553|HP:0000556|HP:0001871|HP:0000532 31 chr1:10518458-10519131 chr1 10518458 10519131 673 0.612503781519134 Category_1 Category_1 1.45674000343135 Category_8 Category_4 ENSG00000225158|ENSG00000215785|ENSG00000142655|ENSG00000264181|ENSG00000175262|ENSG00000207213|ENSG00000120948 HSPE1P24|CFL1P6|PEX14|AL713997.1|C1orf127|Y_RNA|TARDBP pseudogene|protein-coding|miRNA|misc_RNA Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive|Frontotemporal lobar degeneration, TARDBP-related, 612069 (3), Autosomal dominant; Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3), Autosomal dominant HP:0001155|HP:0002493|HP:0001133|HP:0001123|HP:0010965|HP:0010946|HP:0010936|HP:0010935|HP:0010938|HP:0001197|HP:0008572|HP:0009891|HP:0001290|HP:0001291|HP:0001276|HP:0001284|HP:0001250|HP:0001252|HP:0001251|HP:0002577|HP:0001263|HP:0001257|HP:0410280|HP:0008665|HP:0002538|HP:0002536|HP:0033643|HP:0003808|HP:0003811|HP:0012072|HP:0001396|HP:0001399|HP:0001392|HP:0000077|HP:0000079|HP:0000078|HP:0000036|HP:0000055|HP:0000056|HP:0000047|HP:0002683|HP:0001347|HP:0000032|HP:0000035|HP:0000028|HP:0008872|HP:0007477|HP:0000002|HP:0001324|HP:0000007|HP:0000003|HP:0001311|HP:0002652|HP:0001315|HP:0000163|HP:0000157|HP:0000174|HP:0001476|HP:0000153|HP:0000152|HP:0008936|HP:0007598|HP:0000118|HP:0000119|HP:0002795|HP:0000126|HP:0000107|HP:0001438|HP:0001410|HP:0001406|HP:0002024|HP:0002021|HP:0003330|HP:0002012|HP:0002011|HP:0003336|HP:0003323|HP:0011805|HP:0002086|HP:0100543|HP:0002093|HP:0002060|HP:0003593|HP:0002269|HP:0003577|HP:0002242|HP:0002240|HP:0200006|HP:0001098|HP:0031826|HP:0006824|HP:0006829|HP:0031865|HP:0011389|HP:0000639|HP:0000648|HP:0000610|HP:0000627|HP:0001928|HP:0001939|HP:0011356|HP:0011344|HP:0011354|HP:0011328|HP:0000662|HP:0001992|HP:0011314|HP:0012639|HP:0012638|HP:0001999|HP:0004325|HP:0004323|HP:0004322|HP:0031956|HP:0004328|HP:0031964|HP:0000954|HP:0000952|HP:0000951|HP:0008064|HP:0008050|HP:0040194|HP:0040195|HP:0011675|HP:0008034|HP:0007703|HP:0012294|HP:0000286|HP:0000290|HP:0000260|HP:0000256|HP:0000277|HP:0000271|HP:0000270|HP:0012243|HP:0000268|HP:0005105|HP:0002817|HP:0001574|HP:0000240|HP:0000239|HP:0000235|HP:0000234|HP:0000252|HP:0000508|HP:0000505|HP:0000504|HP:0000501|HP:0000598|HP:0000582|HP:0000587|HP:0012547|HP:0000553|HP:0000556|HP:0001871|HP:0000532|HP:0000549|HP:0025142|HP:0002492|HP:0002460|HP:0002442|HP:0002450|HP:0008619|HP:0007256|HP:0003701|HP:0003700|HP:0001268|HP:0001283|HP:0001265|HP:0001260|HP:0100851|HP:0100852|HP:0025270|HP:0007372|HP:0007373|HP:0007367|HP:0007354|HP:0025354|HP:0001328|HP:0000006|HP:0001300|HP:0025425|HP:0012103|HP:0002793|HP:0002747|HP:0002017|HP:0002015|HP:0003324|HP:0002087|HP:0002094|HP:0003398|HP:0003394|HP:0002062|HP:0002073|HP:0002071|HP:0002273|HP:0003584|HP:0003581|HP:0002300|HP:0007190|HP:0000605|HP:0004305|HP:0012252|HP:0012531 32 chr1:10632582-10633560 chr1 10632582 10633560 978 0.550463792795132 Category_1 Category_1 0.89720734352044 Category_4 Category_2 ENSG00000142655|ENSG00000130940|ENSG00000175262 PEX14|CASZ1|C1orf127 protein-coding Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive HP:0001155|HP:0002493|HP:0001133|HP:0001123|HP:0010965|HP:0010946|HP:0010936|HP:0010935|HP:0010938|HP:0001197|HP:0008572|HP:0009891|HP:0001290|HP:0001291|HP:0001276|HP:0001284|HP:0001250|HP:0001252|HP:0001251|HP:0002577|HP:0001263|HP:0001257|HP:0410280|HP:0008665|HP:0002538|HP:0002536|HP:0033643|HP:0003808|HP:0003811|HP:0012072|HP:0001396|HP:0001399|HP:0001392|HP:0000077|HP:0000079|HP:0000078|HP:0000036|HP:0000055|HP:0000056|HP:0000047|HP:0002683|HP:0001347|HP:0000032|HP:0000035|HP:0000028|HP:0008872|HP:0007477|HP:0000002|HP:0001324|HP:0000007|HP:0000003|HP:0001311|HP:0002652|HP:0001315|HP:0000163|HP:0000157|HP:0000174|HP:0001476|HP:0000153|HP:0000152|HP:0008936|HP:0007598|HP:0000118|HP:0000119|HP:0002795|HP:0000126|HP:0000107|HP:0001438|HP:0001410|HP:0001406|HP:0002024|HP:0002021|HP:0003330|HP:0002012|HP:0002011|HP:0003336|HP:0003323|HP:0011805|HP:0002086|HP:0100543|HP:0002093|HP:0002060|HP:0003593|HP:0002269|HP:0003577|HP:0002242|HP:0002240|HP:0200006|HP:0001098|HP:0031826|HP:0006824|HP:0006829|HP:0031865|HP:0011389|HP:0000639|HP:0000648|HP:0000610|HP:0000627|HP:0001928|HP:0001939|HP:0011356|HP:0011344|HP:0011354|HP:0011328|HP:0000662|HP:0001992|HP:0011314|HP:0012639|HP:0012638|HP:0001999|HP:0004325|HP:0004323|HP:0004322|HP:0031956|HP:0004328|HP:0031964|HP:0000954|HP:0000952|HP:0000951|HP:0008064|HP:0008050|HP:0040194|HP:0040195|HP:0011675|HP:0008034|HP:0007703|HP:0012294|HP:0000286|HP:0000290|HP:0000260|HP:0000256|HP:0000277|HP:0000271|HP:0000270|HP:0012243|HP:0000268|HP:0005105|HP:0002817|HP:0001574|HP:0000240|HP:0000239|HP:0000235|HP:0000234|HP:0000252|HP:0000508|HP:0000505|HP:0000504|HP:0000501|HP:0000598|HP:0000582|HP:0000587|HP:0012547|HP:0000553|HP:0000556|HP:0001871|HP:0000532|HP:0000549 33 chr1:1063532-1064143 chr1 1063532 1064143 611 0.566182899327171 Category_1 Category_1 0.454120727474376 Category_1 Category_1 ENSG00000205090|ENSG00000221978|ENSG00000197785|ENSG00000131584|ENSG00000127054|ENSG00000215915|ENSG00000264293|ENSG00000272455|ENSG00000215014|ENSG00000162576|ENSG00000169962|ENSG00000242485|ENSG00000215791|ENSG00000107404|ENSG00000224051|ENSG00000240731|ENSG00000160075|ENSG00000162572|ENSG00000217801|ENSG00000224870 TMEM240|CCNL2|ATAD3A|ACAP3|CPSF3L|ATAD3C|RN7SL657P|RP4-758J18.13|AL645728.1|MXRA8|TAS1R3|MRPL20|AL645728.2|DVL1|GLTPD1|RP5-890O3.9|SSU72|SCNN1D|LOC100288175|RP4-758J18.2 protein-coding|misc_RNA|lincRNA|pseudogene|sense_intronic|ncRNA Spinocerebellar ataxia 21, 607454 (3), Autosomal dominant|Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive|Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant HP:0001152|HP:0001276|HP:0001272|HP:0001268|HP:0001288|HP:0001251|HP:0001249|HP:0001265|HP:0001260|HP:0001263|HP:0100851|HP:0410280|HP:0007338|HP:0003808|HP:0001332|HP:0000006|HP:0001337|HP:0001317|HP:0001315|HP:0001300|HP:0000118|HP:0002011|HP:0002080|HP:0100543|HP:0002066|HP:0002063|HP:0002073|HP:0002070|HP:0002071|HP:0003581|HP:0100710|HP:0003623|HP:0002304|HP:0031826|HP:0006855|HP:0000639|HP:0000651|HP:0000617|HP:0012639|HP:0012638|HP:0004305|HP:0007792|HP:0000504|HP:0012547|HP:0000570|HP:0000549|HP:0025116|HP:0002493|HP:0002465|HP:0002463|HP:0010938|HP:0001197|HP:0007210|HP:0001298|HP:0001273|HP:0001250|HP:0001252|HP:0001257|HP:0100886|HP:0100840|HP:0008736|HP:0410263|HP:0007360|HP:0002540|HP:0002500|HP:0003811|HP:0001392|HP:0000079|HP:0000078|HP:0000036|HP:0001385|HP:0000054|HP:0000050|HP:0002683|HP:0000032|HP:0000035|HP:0000034|HP:0000028|HP:0008872|HP:0000007|HP:0002650|HP:0001321|HP:0002644|HP:0000160|HP:0000163|HP:0000153|HP:0000152|HP:0008936|HP:0000119|HP:0001438|HP:0002012|HP:0002007|HP:0011805|HP:0002064|HP:0002060|HP:0003593|HP:0002240|HP:0003535|HP:0010719|HP:0200006|HP:0009830|HP:0001098|HP:0000648|HP:0001941|HP:0000609|HP:0001939|HP:0001999|HP:0005656|HP:0006989|HP:0004328|HP:0008050|HP:0008056|HP:0008058|HP:0007700|HP:0000290|HP:0001595|HP:0000277|HP:0000276|HP:0000271|HP:0012243|HP:0005105|HP:0002814|HP:0001574|HP:0000234|HP:0000582|HP:0000587|HP:0000565|HP:0000539|HP:0000534|HP:0001883|HP:0000545|HP:0001172|HP:0001155|HP:0001156|HP:0001167|HP:0001159|HP:0025104|HP:0010946|HP:0010936|HP:0010935|HP:0009942|HP:0009944|HP:0010885|HP:0010866|HP:0009883|HP:0009882|HP:0003764|HP:0003712|HP:0002597|HP:0001231|HP:0006101|HP:0006009|HP:0009997|HP:0009999|HP:0001220|HP:0000066|HP:0000064|HP:0000060|HP:0000059|HP:0000058|HP:0000077|HP:0000075|HP:0001377|HP:0001376|HP:0001371|HP:0001373|HP:0001367|HP:0000039|HP:0000055|HP:0000056|HP:0001384|HP:0000047|HP:0002684|HP:0000023|HP:0008873|HP:0002664|HP:0003995|HP:0000002|HP:0001328|HP:0002673|HP:0008905|HP:0000189|HP:0000185|HP:0000190|HP:0000164|HP:0000161|HP:0000158|HP:0000157|HP:0000159|HP:0000175|HP:0000177|HP:0000174|HP:0000168|HP:0000154|HP:0007665|HP:0006335|HP:0410030|HP:0002705|HP:0006292|HP:0006261|HP:0006262|HP:0006265|HP:0000126|HP:0002751|HP:0002750|HP:0002714|HP:0003367|HP:0003368|HP:0003366|HP:0003330|HP:0003312|HP:0003319|HP:0011800|HP:0100541|HP:0009466|HP:0003577|HP:0003549|HP:0008402|HP:0100790|HP:0100798|HP:0009843|HP:0009826|HP:0200007|HP:0008501|HP:0009832|HP:0009835|HP:0009815|HP:0010807|HP:0009768|HP:0009767|HP:0010733|HP:0004209|HP:0009099|HP:0011389|HP:0004299|HP:0004298|HP:0004279|HP:0004220|HP:0000637|HP:0011355|HP:0011362|HP:0000684|HP:0011339|HP:0000678|HP:0000674|HP:0000677|HP:0000692|HP:0011328|HP:0000689|HP:0011314|HP:0011304|HP:0000668|HP:0004322|HP:0005622|HP:0000951|HP:0000960|HP:0005819|HP:0009381|HP:0040194|HP:0009370|HP:0000286|HP:0000288|HP:0000278|HP:0001597|HP:0001596|HP:0000260|HP:0000256|HP:0000272|HP:0005107|HP:0002818|HP:0002817|HP:0002812|HP:0002813|HP:0002827|HP:0002823|HP:0030084|HP:0002808|HP:0000240|HP:0000239|HP:0000235|HP:0001837|HP:0000508|HP:0001805|HP:0004097|HP:0000598|HP:0000592|HP:0000591|HP:0011220 34 chr1:1064143-1064754 chr1 1064143 1064754 611 0.316469860337838 Category_1 Category_1 0.505059407230202 Category_1 Category_1 ENSG00000215915|ENSG00000215791|ENSG00000224051|ENSG00000215014|ENSG00000230415|ENSG00000242485|ENSG00000205090|ENSG00000160075|ENSG00000217801|ENSG00000224870|ENSG00000221978|ENSG00000162576|ENSG00000160087|ENSG00000162572|ENSG00000264293|ENSG00000197785|ENSG00000272455|ENSG00000131584|ENSG00000127054|ENSG00000240731|ENSG00000169962|ENSG00000107404 ATAD3C|AL645728.2|GLTPD1|AL645728.1|RP5-902P8.10|MRPL20|TMEM240|SSU72|LOC100288175|RP4-758J18.2|CCNL2|MXRA8|UBE2J2|SCNN1D|RN7SL657P|ATAD3A|RP4-758J18.13|ACAP3|CPSF3L|RP5-890O3.9|TAS1R3|DVL1 protein-coding|pseudogene|lincRNA|ncRNA|misc_RNA|sense_intronic Spinocerebellar ataxia 21, 607454 (3), Autosomal dominant|Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive|Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant HP:0001152|HP:0001276|HP:0001272|HP:0001268|HP:0001288|HP:0001251|HP:0001249|HP:0001265|HP:0001260|HP:0001263|HP:0100851|HP:0410280|HP:0007338|HP:0003808|HP:0001332|HP:0000006|HP:0001337|HP:0001317|HP:0001315|HP:0001300|HP:0000118|HP:0002011|HP:0002080|HP:0100543|HP:0002066|HP:0002063|HP:0002073|HP:0002070|HP:0002071|HP:0003581|HP:0100710|HP:0003623|HP:0002304|HP:0031826|HP:0006855|HP:0000639|HP:0000651|HP:0000617|HP:0012639|HP:0012638|HP:0004305|HP:0007792|HP:0000504|HP:0012547|HP:0000570|HP:0000549|HP:0025116|HP:0002493|HP:0002465|HP:0002463|HP:0010938|HP:0001197|HP:0007210|HP:0001298|HP:0001273|HP:0001250|HP:0001252|HP:0001257|HP:0100886|HP:0100840|HP:0008736|HP:0410263|HP:0007360|HP:0002540|HP:0002500|HP:0003811|HP:0001392|HP:0000079|HP:0000078|HP:0000036|HP:0001385|HP:0000054|HP:0000050|HP:0002683|HP:0000032|HP:0000035|HP:0000034|HP:0000028|HP:0008872|HP:0000007|HP:0002650|HP:0001321|HP:0002644|HP:0000160|HP:0000163|HP:0000153|HP:0000152|HP:0008936|HP:0000119|HP:0001438|HP:0002012|HP:0002007|HP:0011805|HP:0002064|HP:0002060|HP:0003593|HP:0002240|HP:0003535|HP:0010719|HP:0200006|HP:0009830|HP:0001098|HP:0000648|HP:0001941|HP:0000609|HP:0001939|HP:0001999|HP:0005656|HP:0006989|HP:0004328|HP:0008050|HP:0008056|HP:0008058|HP:0007700|HP:0000290|HP:0001595|HP:0000277|HP:0000276|HP:0000271|HP:0012243|HP:0005105|HP:0002814|HP:0001574|HP:0000234|HP:0000582|HP:0000587|HP:0000565|HP:0000539|HP:0000534|HP:0001883|HP:0000545|HP:0001172|HP:0001155|HP:0001156|HP:0001167|HP:0001159|HP:0025104|HP:0010946|HP:0010936|HP:0010935|HP:0009942|HP:0009944|HP:0010885|HP:0010866|HP:0009883|HP:0009882|HP:0003764|HP:0003712|HP:0002597|HP:0001231|HP:0006101|HP:0006009|HP:0009997|HP:0009999|HP:0001220|HP:0000066|HP:0000064|HP:0000060|HP:0000059|HP:0000058|HP:0000077|HP:0000075|HP:0001377|HP:0001376|HP:0001371|HP:0001373|HP:0001367|HP:0000039|HP:0000055|HP:0000056|HP:0001384|HP:0000047|HP:0002684|HP:0000023|HP:0008873|HP:0002664|HP:0003995|HP:0000002|HP:0001328|HP:0002673|HP:0008905|HP:0000189|HP:0000185|HP:0000190|HP:0000164|HP:0000161|HP:0000158|HP:0000157|HP:0000159|HP:0000175|HP:0000177|HP:0000174|HP:0000168|HP:0000154|HP:0007665|HP:0006335|HP:0410030|HP:0002705|HP:0006292|HP:0006261|HP:0006262|HP:0006265|HP:0000126|HP:0002751|HP:0002750|HP:0002714|HP:0003367|HP:0003368|HP:0003366|HP:0003330|HP:0003312|HP:0003319|HP:0011800|HP:0100541|HP:0009466|HP:0003577|HP:0003549|HP:0008402|HP:0100790|HP:0100798|HP:0009843|HP:0009826|HP:0200007|HP:0008501|HP:0009832|HP:0009835|HP:0009815|HP:0010807|HP:0009768|HP:0009767|HP:0010733|HP:0004209|HP:0009099|HP:0011389|HP:0004299|HP:0004298|HP:0004279|HP:0004220|HP:0000637|HP:0011355|HP:0011362|HP:0000684|HP:0011339|HP:0000678|HP:0000674|HP:0000677|HP:0000692|HP:0011328|HP:0000689|HP:0011314|HP:0011304|HP:0000668|HP:0004322|HP:0005622|HP:0000951|HP:0000960|HP:0005819|HP:0009381|HP:0040194|HP:0009370|HP:0000286|HP:0000288|HP:0000278|HP:0001597|HP:0001596|HP:0000260|HP:0000256|HP:0000272|HP:0005107|HP:0002818|HP:0002817|HP:0002812|HP:0002813|HP:0002827|HP:0002823|HP:0030084|HP:0002808|HP:0000240|HP:0000239|HP:0000235|HP:0001837|HP:0000508|HP:0001805|HP:0004097|HP:0000598|HP:0000592|HP:0000591|HP:0011220 35 chr1:10653148-10654148 chr1 10653148 10654148 1000 0.50316696958684 Category_1 Category_1 0.487297078394429 Category_1 Category_1 ENSG00000130940 CASZ1 protein-coding — — 36 chr1:10664940-10665598 chr1 10664940 10665598 658 0.505178639650117 Category_1 Category_1 0.420537375193074 Category_1 Category_1 ENSG00000130940 CASZ1 protein-coding — — 37 chr1:10676546-10677206 chr1 10676546 10677206 660 0.432730015489946 Category_1 Category_1 0.76303698946409 Category_3 Category_2 ENSG00000130940 CASZ1 protein-coding — — 38 chr1:106953250-106953760 chr1 106953250 106953760 510 0.61753929124246 Category_1 Category_1 1.25728005346745 Category_7 Category_4 ENSG00000198890 PRMT6 protein-coding — — 39 chr1:10704976-10705671 chr1 10704976 10705671 695 0.528177872042274 Category_1 Category_1 0.474243681473539 Category_1 Category_1 ENSG00000130940 CASZ1 protein-coding — — 40 chr1:10744846-10745376 chr1 10744846 10745376 530 0.600661906750627 Category_1 Category_1 1.18692476234563 Category_7 Category_4 ENSG00000130940 CASZ1 protein-coding — — 41 chr1:10793957-10794494 chr1 10793957 10794494 537 0.490814743552392 Category_1 Category_1 0.401218016368043 Category_1 Category_1 ENSG00000130940|ENSG00000272078 CASZ1|RP4-734G22.3 protein-coding|antisense — — 42 chr1:10795030-10795566 chr1 10795030 10795566 536 0.487346307491481 Category_1 Category_1 1.14421573598948 Category_6 Category_3 ENSG00000130940|ENSG00000272078 CASZ1|RP4-734G22.3 protein-coding|antisense — — 43 chr1:107976496-107977496 chr1 107976496 107977496 1000 0.570316609069658 Category_1 Category_1 1.91709710184436 Category_10 Category_5 ENSG00000134215 VAV3 protein-coding — — 44 chr1:10836996-10837512 chr1 10836996 10837512 516 0.421516362062247 Category_1 Category_1 0.684246181409112 Category_2 Category_1 ENSG00000130940 CASZ1 protein-coding — — 45 chr1:108596911-108597911 chr1 108596911 108597911 1000 0.648069423882706 Category_1 Category_1 0.766022375489687 Category_3 Category_2 ENSG00000162636 FAM102B protein-coding — — 46 chr1:108817493-108818044 chr1 108817493 108818044 551 0.474515659650034 Category_1 Category_1 1.1618062121354 Category_7 Category_4 ENSG00000162641 AKNAD1 protein-coding — — 47 chr1:108818044-108818594 chr1 108818044 108818594 550 0.553027543988275 Category_1 Category_1 0.692155444992673 Category_2 Category_1 ENSG00000162641 AKNAD1 protein-coding — — 48 chr1:108830556-108831208 chr1 108830556 108831208 652 0.619618730581766 Category_1 Category_1 1.23342142008304 Category_7 Category_4 ENSG00000162641 AKNAD1 protein-coding — — 49 chr1:108858579-108859382 chr1 108858579 108859382 803 0.602411536673523 Category_1 Category_1 0.857144636747433 Category_4 Category_2 ENSG00000162641 AKNAD1 protein-coding — — 50 chr1:10900806-10901622 chr1 10900806 10901622 816 0.547695764240653 Category_1 Category_1 0.486278048431527 Category_1 Category_1 ENSG00000142655|ENSG00000175262 PEX14|C1orf127 protein-coding Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive HP:0001155|HP:0002493|HP:0001133|HP:0001123|HP:0010965|HP:0010946|HP:0010936|HP:0010935|HP:0010938|HP:0001197|HP:0008572|HP:0009891|HP:0001290|HP:0001291|HP:0001276|HP:0001284|HP:0001250|HP:0001252|HP:0001251|HP:0002577|HP:0001263|HP:0001257|HP:0410280|HP:0008665|HP:0002538|HP:0002536|HP:0033643|HP:0003808|HP:0003811|HP:0012072|HP:0001396|HP:0001399|HP:0001392|HP:0000077|HP:0000079|HP:0000078|HP:0000036|HP:0000055|HP:0000056|HP:0000047|HP:0002683|HP:0001347|HP:0000032|HP:0000035|HP:0000028|HP:0008872|HP:0007477|HP:0000002|HP:0001324|HP:0000007|HP:0000003|HP:0001311|HP:0002652|HP:0001315|HP:0000163|HP:0000157|HP:0000174|HP:0001476|HP:0000153|HP:0000152|HP:0008936|HP:0007598|HP:0000118|HP:0000119|HP:0002795|HP:0000126|HP:0000107|HP:0001438|HP:0001410|HP:0001406|HP:0002024|HP:0002021|HP:0003330|HP:0002012|HP:0002011|HP:0003336|HP:0003323|HP:0011805|HP:0002086|HP:0100543|HP:0002093|HP:0002060|HP:0003593|HP:0002269|HP:0003577|HP:0002242|HP:0002240|HP:0200006|HP:0001098|HP:0031826|HP:0006824|HP:0006829|HP:0031865|HP:0011389|HP:0000639|HP:0000648|HP:0000610|HP:0000627|HP:0001928|HP:0001939|HP:0011356|HP:0011344|HP:0011354|HP:0011328|HP:0000662|HP:0001992|HP:0011314|HP:0012639|HP:0012638|HP:0001999|HP:0004325|HP:0004323|HP:0004322|HP:0031956|HP:0004328|HP:0031964|HP:0000954|HP:0000952|HP:0000951|HP:0008064|HP:0008050|HP:0040194|HP:0040195|HP:0011675|HP:0008034|HP:0007703|HP:0012294|HP:0000286|HP:0000290|HP:0000260|HP:0000256|HP:0000277|HP:0000271|HP:0000270|HP:0012243|HP:0000268|HP:0005105|HP:0002817|HP:0001574|HP:0000240|HP:0000239|HP:0000235|HP:0000234|HP:0000252|HP:0000508|HP:0000505|HP:0000504|HP:0000501|HP:0000598|HP:0000582|HP:0000587|HP:0012547|HP:0000553|HP:0000556|HP:0001871|HP:0000532|HP:0000549