Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZC3HAV1_chr7_139038515_139114720	139101478	G G	GCCTTTGC others(373): Show GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCG TCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAAT GAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTC TCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGC CCGGCCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAG TCAGTCCCTGCCAGGCCGCCGCCCTGTCCGGAGGGTGGGGGGCGCCTCTG CCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0054 a0015c0019t0054	a0015c0019t0054g0261 a0015c0019t0054g0261	1	189	0.0053	380	c.308 others(397): Show c.308+7545_308+7546insGGCTCCTCACTTCCCAGAAGGGGCGGCT GGGCAGAGGCGCCCCCCACCCTCCGGACAGGGCGGCGGCCTGGCAGGGAC TGACTCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGCGGGCTGGC CGGGCGCGGGCTGACCCCCACCTCCCTCCCTGACGGAGTGGCTGCCGGTC GGAGACGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTT CTCATTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTC AGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACAGTGCA GCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAAA GG	ZC3HAV1	ENSG00000105939.14	transcript	ENST00000242351.10	protein_coding	1/12			chr7	TogoVar
ZC3HAV1_chr7_139038515_139114720	139101478	G G	GCCTTTGC others(373): Show GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCG TCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAAT GAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTC TCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGC CCGGCCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAG TCAGTCCCTGCCCGGCCGCCGCCCTGTCCGGAGGGTGGGGGGCGCCTCTG CCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp1 others(107): Show HG00099.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19055.hp2 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp1 NA19083.hp1 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0013 a0017 a0021 a0022 a0023	a0001c0002 a0001c0008 a0001c0017 others(16): Show a0001c0002 a0001c0008 a0001c0017 a0001c0026 a0002c0001 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0006c0010 a0006c0013 a0007c0006 a0008c0011 a0011c0014 a0013c0031 a0017c0036 a0021c0020 a0022c0027 a0023c0029	a0001c0002t0002 a0001c0002t0004 a0001c0002t0019 others(46): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0019 a0001c0002t0020 a0001c0002t0028 a0001c0002t0033 a0001c0002t0034 a0001c0002t0047 a0001c0008t0008 a0001c0008t0031 a0001c0008t0038 a0001c0008t0053 a0001c0017t0008 a0001c0026t0002 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0006 a0002c0001t0007 a0002c0001t0021 a0002c0001t0022 a0002c0001t0042 a0002c0001t0043 a0002c0001t0044 a0002c0001t0065 a0003c0003t0001 a0003c0003t0003 a0003c0003t0007 a0004c0004t0004 a0005c0005t0003 a0005c0005t0007 a0006c0007t0008 a0006c0007t0030 a0006c0007t0039 a0006c0010t0029 a0006c0013t0004 a0006c0013t0019 a0007c0006t0003 a0007c0006t0006 a0007c0006t0007 a0007c0006t0022 a0008c0011t0004 a0011c0014t0004 a0011c0014t0020 a0013c0031t0005 a0017c0036t0040 a0021c0020t0003 a0022c0027t0006 a0023c0029t0006	a0001c0002t0002g0132 a0001c0002t0002g0290 a0001c0002t0002g0291 others(107): Show a0001c0002t0002g0132 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0004g0011 a0001c0002t0004g0013 a0001c0002t0004g0019 a0001c0002t0004g0025 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0033 a0001c0002t0004g0041 a0001c0002t0004g0051 a0001c0002t0004g0072 a0001c0002t0004g0079 a0001c0002t0004g0081 a0001c0002t0004g0082 a0001c0002t0004g0083 a0001c0002t0004g0098 a0001c0002t0019g0065 a0001c0002t0020g0060 a0001c0002t0028g0034 a0001c0002t0033g0028 a0001c0002t0034g0085 a0001c0002t0047g0209 a0001c0008t0008g0040 a0001c0008t0008g0052 a0001c0008t0031g0074 a0001c0008t0038g0049 a0001c0008t0053g0100 a0001c0017t0008g0008 a0001c0017t0008g0010 a0001c0026t0002g0283 a0002c0001t0001g0288 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0296 a0002c0001t0001g0298 a0002c0001t0001g0300 a0002c0001t0001g0301 a0002c0001t0001g0303 a0002c0001t0003g0020 a0002c0001t0003g0043 a0002c0001t0003g0046 a0002c0001t0003g0054 a0002c0001t0003g0058 a0002c0001t0003g0059 a0002c0001t0003g0067 a0002c0001t0003g0073 a0002c0001t0003g0084 a0002c0001t0003g0089 a0002c0001t0003g0093 a0002c0001t0005g0286 a0002c0001t0005g0289 a0002c0001t0005g0297 a0002c0001t0005g0299 a0002c0001t0005g0302 a0002c0001t0005g0305 a0002c0001t0006g0009 a0002c0001t0006g0014 a0002c0001t0006g0015 a0002c0001t0006g0036 a0002c0001t0006g0050 a0002c0001t0006g0063 a0002c0001t0006g0071 a0002c0001t0006g0075 a0002c0001t0006g0090 a0002c0001t0007g0099 a0002c0001t0021g0088 a0002c0001t0022g0026 a0002c0001t0042g0056 a0002c0001t0043g0053 a0002c0001t0044g0048 a0002c0001t0065g0292 a0003c0003t0001g0295 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0021 a0003c0003t0003g0024 a0003c0003t0003g0076 a0003c0003t0007g0022 a0003c0003t0007g0027 a0003c0003t0007g0077 a0004c0004t0004g0006 a0004c0004t0004g0016 a0005c0005t0003g0039 a0005c0005t0003g0042 a0005c0005t0007g0069 a0006c0007t0008g0032 a0006c0007t0008g0091 a0006c0007t0030g0092 a0006c0007t0039g0037 a0006c0010t0029g0086 a0006c0013t0004g0044 a0006c0013t0019g0055 a0007c0006t0003g0047 a0007c0006t0006g0064 a0007c0006t0007g0035 a0007c0006t0007g0066 a0007c0006t0007g0087 a0007c0006t0022g0080 a0008c0011t0004g0078 a0011c0014t0004g0061 a0011c0014t0004g0062 a0011c0014t0020g0029 a0013c0031t0005g0287 a0017c0036t0040g0045 a0021c0020t0003g0023 a0022c0027t0006g0070 a0023c0029t0006g0057	110	298	0.3691	380	c.308 others(397): Show c.308+7545_308+7546insGGCTCCTCACTTCCCAGAAGGGGCGGCT GGGCAGAGGCGCCCCCCACCCTCCGGACAGGGCGGCGGCCGGGCAGGGAC TGACTCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGCGGGCTGGC CGGGCGCGGGCTGACCCCCACCTCCCTCCCTGACGGAGTGGCTGCCGGTC GGAGACGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTT CTCATTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTC AGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACAGTGCA GCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAAA GG	ZC3HAV1	ENSG00000105939.14	transcript	ENST00000242351.10	protein_coding	1/12			chr7	TogoVar
ZC3HAV1_chr7_139038515_139114720	139101478	G G	GCCTTTGC others(373): Show GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCG TCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAAT GAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTC TCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGC CCGGCCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAG TCAGTCCCTGCCCGGCCGCCGCCCTGTCTGGAGGGTGGGGGGCGCCTCTG CCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp2 HG02886.hp1 HG02896.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0037 a0006c0010t0035 a0001c0002t0037 a0006c0010t0035	a0001c0002t0037g0018 a0006c0010t0035g0017 a0001c0002t0037g0018 a0006c0010t0035g0017	2	190	0.0105	380	c.308 others(397): Show c.308+7545_308+7546insGGCTCCTCACTTCCCAGAAGGGGCGGCT GGGCAGAGGCGCCCCCCACCCTCCAGACAGGGCGGCGGCCGGGCAGGGAC TGACTCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGCGGGCTGGC CGGGCGCGGGCTGACCCCCACCTCCCTCCCTGACGGAGTGGCTGCCGGTC GGAGACGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTT CTCATTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTC AGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACAGTGCA GCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAAA GG	ZC3HAV1	ENSG00000105939.14	transcript	ENST00000242351.10	protein_coding	1/12			chr7	TogoVar
ZC3HAV1_chr7_139038515_139114720	139101478	G G	GCCTTTGC others(373): Show GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCG TCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAAT GAGAAGCCCCTCCGCCTGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTC TCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGC CCGGCCAGCCCGCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAG TCAGTCCCTGCCCGGCCGCCGCCCTGTCCGGAGGGTGGGGGGCGCCTCTG CCCAGCCGCCCCTTCTGGGAAGTGAGGAGCC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0003 a0007c0006t0003	a0007c0006t0003g0038 a0007c0006t0003g0038	1	189	0.0053	380	c.308 others(397): Show c.308+7545_308+7546insGGCTCCTCACTTCCCAGAAGGGGCGGCT GGGCAGAGGCGCCCCCCACCCTCCGGACAGGGCGGCGGCCGGGCAGGGAC TGACTCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGCGGGCTGGC CGGGCGCGGGCTGACCCCCACCTCCCTCCCTGACGGAGTGGCTGCCGGTC GGAGACGCTCCTCACTTCCCAGACGGGGCGGCTGCCAGGCGGAGGGGCTT CTCATTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTC AGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACAGTGCA GCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAAA GG	ZC3HAV1	ENSG00000105939.14	transcript	ENST00000242351.10	protein_coding	1/12			chr7	TogoVar
ZNF112_chr19_44321555_44361680	44337386	T T	TATATATT others(373): Show TATATATTATATATATTTTATATATATAATATATATTATATATATTTTAT ATATATAATATATATTATATATATTTTATATATATTATATATATTATATA TATTTTATATATAATATATATTATATATATTTTATATATAATATATATTA TATATAAAATATATATAATATATATTATATATATTTTATATATATAATAT ATATTATATATATTTTATATATAATATATATTATATATAAAATATATATA ATATATATTATATATATTTTATATATATAATATATATTATATATATTTTA TATATAATATATATTATATATATAAAATATATATAATATATATTATATAT ATTTTATATATATAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0062 a0003c0003t0004g0062	1	408	0.0025	380	c.125 others(395): Show c.125-669_125-668insTTATATATAATATATATTATATATATAAAA TATATATAATATATATTATATATATTTTATATATATAATATATATTATAT ATAAAATATATATAATATATATTATATATATAAAATATATATAATATATA TTATATATATTTTATATATAATATATATTATATATAAAATATATATAATA TATATTATATATATAAAATATATATAATATATATTATATATATTTTATAT ATAATATATATTATATATAAAATATATATAATATATATTATATATAAAAT ATATATAATATATATAATATATATAAAATATATATAATATATATTATATA TATAAAATATATATAATATATATTATATATATAAAATATATATAATATAT	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(373): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATATATCATATAT CACACATATGATATATATCATATATCACACATATGATATATATCATACAT ATCACATATATCATATATATCATACATATCACATATATCATATATATCAT ACATATCACATATATGATATATATCATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	166	0.0060	380	c.-36 others(391): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATATATCATATATCACACATATGATATATATCATATATCACACATATG ATATATATCATACATATCACATATATCATATATATCATACATATCACATA TATCATATATATCATACATATCACATATATGATATATATCATACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(373): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATATATCATATAT CACACATATGATATATATCATATATCACACATATGATATATATCATACAT ATCACATATATCATATATATCATACATATCACATATATCATATATATCAT ACATATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	166	0.0060	380	c.-36 others(391): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATATATCATATATCACACATATGATATATATCATATATCACACATATG ATATATATCATACATATCACATATATCATATATATCATACATATCACATA TATCATATATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(373): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATACATATCACATATATCATATATATCATACAT ATCACATATATCATATATATCATACATATCACATATATGATATATATCAT ATATATCACATATATCATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0069 a0001c0001t0014g0069	1	173	0.0058	380	c.-36 others(391): Show c.-3663_-3662insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATACATATCACATATATC ATATATATCATACATATCACATATATCATATATATCATACATATCACATA TATGATATATATCATATATATCACATATATCATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3559		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATATA others(373): Show CATATATATCACATATATGATATATATCATGTGATATATATAGCATATAT ATCATATGTGATATATAGCATATATATCATATGTGATATATATCACATAT GATATATATCATATATATCATATGTGATATATAGCATATATATCATATGT GATATATAGCATATATATCATATGTGATATATATCATATATATCATATAT CATATATATCATATATATCATATATCATATATATCATATATATCATATAT CATATATCATATATATCATATATCATATATATCATATGTGATATATATGA TATATATGATATATATGATATATATGATATATAGTGATATATATCATATA TATGTGATATATATGATATATATCATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02257.hp2 HG01106.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	224	0.0089	380	c.-34 others(391): Show c.-3494_-3493insATATATATCACATATATGATATATATCATGTGAT ATATATAGCATATATATCATATGTGATATATAGCATATATATCATATGTG ATATATATCACATATGATATATATCATATATATCATATGTGATATATAGC ATATATATCATATGTGATATATAGCATATATATCATATGTGATATATATC ATATATATCATATATCATATATATCATATATATCATATATCATATATATC ATATATATCATATATCATATATCATATATATCATATATCATATATATCAT ATGTGATATATATGATATATATGATATATATGATATATATGATATATAGT GATATATATCATATATATGTGATATATATGATATATATCATATATT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ABCC1_chr16_15944616_16148053	15999862	C C	CCTTCCTT others(374): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0191 a0001c0002t0004g0191	1	245	0.0041	381	c.49- others(396): Show c.49-7954_49-7953insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC T	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1064578	A A	ACTGTTAT others(374): Show ACTGTTATGTGAACTGAGGGTTATGCATGTTCCTCTAGACACTGTTGTTA TGTGAAGTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAAC TGAGGGCTATACATGTTCCTCTAGACACTGCTATTATGTGAACTGAGGGC TATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCAT GTTCCTCTAGACGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTC TAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACAC TGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGATGCTGTTGTTACG TGAACTGAGGGCTATGCATGTTCCTCTAGATG	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19068.hp2 HG01934.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0046 a0001c0001t0007 a0001c0001t0046	a0001c0001t0007g0327 a0001c0001t0046g0153 a0001c0001t0007g0327 a0001c0001t0046g0153	2	97	0.0206	381	c.118 others(400): Show c.1182+2498_1182+2499insCATCTAGAGGAACATGCATAGCCCTC AGTTCACGTAACAACAGCATCTAGAGGAACATGCATAGCCCTCAGTTCAC ATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAG TGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGTCTAG AGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACA TGCATAGCCCTCAGTTCACATAATAGCAGTGTCTAGAGGAACATGTATAG CCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAC TTCACATAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGTTCACAT AACAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1064797	T T	TTATGTGA others(374): Show TTATGTGAACTGAGGGTTATGCATGTTCCTCTAGACACTGTTGTTATGTG AAGTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAG GGCTATACATGTTCCTCTAGACACTGCTATTATGTGAACTGAGGGCTATA CATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTC CTCTAGACGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTT ATGTGAACTGAGGGCTATGCATGTTCCTCTAGATGCTGTTGTTACGTGAA CTGAGGGCTATGCATGTTCCTCTAGATGCTGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	118	0.0085	381	c.118 others(400): Show c.1182+2279_1182+2280insGCAGCATCTAGAGGAACATGCATAGC CCTCAGTTCACGTAACAACAGCATCTAGAGGAACATGCATAGCCCTCAGT TCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA ACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGT CTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGG AACATGTATAGCCCTCAGTTCACATAATAGCAGTGTCTAGAGGAACATGT ATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCC TCACTTCACATAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGTTC ACATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1064797	T T	TTATGTGA others(374): Show TTATGTGAACTGAGGGTTATGCATGTTCCTCTAGACACTGTTGTTATGTG AAGTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAG GGCTATACATGTTCCTCTAGACACTGCTATTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTC CTCTAGACGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTT ATGTGAACTGAGGGCTATGCATGTTCCTCTAGATGCTGTTGTTACGTGAA CTGAGGGCTATGCATGTTCCTCTAGATGCTGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp2 NA18952.hp2 others(2): Show NA18943.hp1 NA18947.hp2 NA18952.hp2 NA19000.hp2 NA19007.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 a0004c0011t0009	a0001c0001t0002g0127 a0001c0001t0004g0320 a0001c0001t0006g0161 others(2): Show a0001c0001t0002g0127 a0001c0001t0004g0320 a0001c0001t0006g0161 a0001c0001t0026g0029 a0004c0011t0009g0028	5	122	0.0410	381	c.118 others(400): Show c.1182+2279_1182+2280insGCAGCATCTAGAGGAACATGCATAGC CCTCAGTTCACGTAACAACAGCATCTAGAGGAACATGCATAGCCCTCAGT TCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA ACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGT CTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGG AACATGCATAGCCCTCAGTTCACATAATAGCAGTGTCTAGAGGAACATGT ATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCC TCACTTCACATAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGTTC ACATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288876	T T	TCTGCTCC others(374): Show TCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCC CGTGTCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	274	0.0036	381	c.46 others(392): Show c.4687_*4688insGGACACGGGGGACGGAGCAGAGACACGGGGGACG GAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGACACGGG GGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3514		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCC others(374): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	247	0.0040	381	c.37 others(392): Show c.3715_*3716insGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGA CACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCA GGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGAC GGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(374): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCT TCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	123	0.0081	381	c.-1- others(396): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGA A	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(374): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCCT TCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	123	0.0081	381	c.-1- others(396): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGA A	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(374): Show TTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	123	0.0081	381	c.-1- others(396): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGA A	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRL3_chr4_61195326_62083335	61847896	T T	TTATATAT others(374): Show TTATATATATAATATAAAATATATTATATATATAATATAAAATATATTAT ATATAATATAAAATATATTATATATAATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATACATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATAATATAAAATATATTATATA TAATATAAAATATATTATATATATAATATAAAATATATTATATATATAAT ATAAAATATATTATATATATAATATAAAATATATTATATATATAATATAA AATATATTATATATATAATATAAAATATATTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0022 a0001c0002t0008g0022	1	10	0.1000	381	c.148 others(402): Show c.1480+34015_1480+34016insTAATATAAAATATATTATATATAT AATATAAAATATATTATATATAATATAAAATATATTATATATAATATAAA ATATATTATATATAATATAAAATATATTATATATAATATAAAATATATTA TACATATAATATAAAATATATTATATATATAATATAAAATATATTATATA TATAATATAAAATATATTATATATATAATATAAAATATATTATATATAAT ATAAAATATATTATATATAATATAAAATATATTATATATATAATATAAAA TATATTATATATATAATATAAAATATATTATATATATAATATAAAATATA TTATATATATAATATAAAATATATTATATATATAATATAAAATATATTAT ATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD30B_chr18_14743172_14859667	14791218	C C	CAGCATAA others(374): Show CAGCATAAATTTTGTCAAAAACATGTTGCTTGTTTTAAGCCCCTGTTTAC CAAAATAAAGCAACTTTTTAAACATTCCGTGCATGCATTATATGACAGAC TCTAAAAGTTCTCTTCACGGCATGCATCATTTTTAACACTAAACAATCTA TGATCATGAATATTTTAAATGTTTAATGCAGTATGTGTTATGGCTAGTAG CAAGTGTATTGTATTTTGTTTGAAATGGCGTATTTACTTTTAATGAGGAC TACAACACAAGTTAGATATTTTTAAGAGAGTTACTTTCTGAAATATGCAC GAGTGAATTCTTTCGTGAGTGTGATTTGTTTTTCCTGCTCAGTAACCAAG TTAATAGCCTCATGAACGTAAAGGTAAGTTGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18747.hp1 NA19004.hp1 HG02135.hp2 NA18747.hp1 NA19004.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0110 a0009c0012t0002g0151 a0009c0012t0002g0152 a0009c0012t0002g0110 a0009c0012t0002g0151 a0009c0012t0002g0152	3	314	0.0096	381	c.173 others(398): Show c.1735-183_1735-182insAGCATAAATTTTGTCAAAAACATGTTGC TTGTTTTAAGCCCCTGTTTACCAAAATAAAGCAACTTTTTAAACATTCCG TGCATGCATTATATGACAGACTCTAAAAGTTCTCTTCACGGCATGCATCA TTTTTAACACTAAACAATCTATGATCATGAATATTTTAAATGTTTAATGC AGTATGTGTTATGGCTAGTAGCAAGTGTATTGTATTTTGTTTGAAATGGC GTATTTACTTTTAATGAGGACTACAACACAAGTTAGATATTTTTAAGAGA GTTACTTTCTGAAATATGCACGAGTGAATTCTTTCGTGAGTGTGATTTGT TTTTCCTGCTCAGTAACCAAGTTAATAGCCTCATGAACGTAAAGGTAAGT TGA	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	15/43			chr18	TogoVar
ARFRP1_chr20_63693647_63712976	63693732	T T	TCCACCAC others(374): Show TCCACCACCTCCACCACCACCACCACCTCCTCCACCTCCACCACCTCCAC CTCCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCA CCACCACCTCCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACC ACCACCACCTCCACCACCTCCACCACCACCACCACCACCACCACCACCTC CACCACCACCACCACCACCACCTCCACCTCCACCACCACCACCACCACCA CCTCCACCACCACCTCCAACTCCACCACCTCCACCTCCACCTCCACCACC ACCTCCACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCAC CACCACCTCCACCACCACCTCCTCCACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	99	0.0101	381	c.67 others(392): Show c.6710_*6711insTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTGGTGGTGGAGGTGGTGGAGGTGGAGGAGGTGGTGGTGGAGGTGG TGGTGGAGGTGGAGGTGGAGGTGGTGGAGTTGGAGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGG TGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTG GTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGT GGAGGTGGTGGAGGTGGAGGAGGTGGTGGTGGTGGTGGAGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4914		chr20	TogoVar
ATP10B_chr5_160558120_160857211	160654045	T T	TATAAATA others(374): Show TATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTA TATACGTATATACATATATAAATATATGTTGTATATACGTATATACTATA TATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTAT ATACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATG TTGTATATACGTATATAGAACATAAATATATGTTGTATATACGTATATAC ATATATAAATATATGTTGTATATACGTATATACATATATAAATATATGTT GTATATACGTATATACATATATAAATATATGTTGTATATACGTATATACA TATATAAATATATGTTGTATATACGTATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0048 a0018c0019t0048	a0018c0019t0048g0113 a0018c0019t0048g0113	1	232	0.0043	381	c.676 others(398): Show c.676-4790_676-4789insGTATATACGTATATACAACATATATTTA TATATGTATATACGTATATACAACATATATTTATATATGTATATACGTAT ATACAACATATATTTATATATGTATATACGTATATACAACATATATTTAT ATATGTATATACGTATATACAACATATATTTATGTTCTATATACGTATAT ACAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTT GTATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAA CATATATAGTATATACGTATATACAACATATATTTATATATGTATATACG TATATACAACATATATTTATATATGTATATACGTATATACAACATATATT TAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112804298	C C	CTCCTTTT others(374): Show CTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTT CCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCC CCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCT TCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCC TCTCTGCCCTCCTTCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCC TCCCTGCCATCCCCTCTCTGCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0236 a0002c0003t0001g0236	1	233	0.0043	381	c.163 others(396): Show c.163-644_163-643insACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCA TTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCC TCCTTCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCC CCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCAT CCCCTCTCTGCCCTCCTTCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTC CCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACC TCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCTTCCTTTTCCTCCTT C	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(374): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGTGCAGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	381	c.36 others(392): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGTGCAGCCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82971951	G G	GGTACTGA others(374): Show GGTACTGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACACAC CACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGG ATAGAAGGACCTGGTACTGACCACACCACACCACGGGCCAGAAGGACCTG GTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGCTGACCACACC ACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGG GGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGA CCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGA CCACACCACACCACAGGGGATAGAAGGACCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02896.hp1 HG00099.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0005 a0001c0014 a0002c0005	a0001c0014t0001 a0002c0005t0007 a0001c0014t0001 a0002c0005t0007	a0001c0014t0001g0013 a0002c0005t0007g0237 a0001c0014t0001g0013 a0002c0005t0007g0237	2	265	0.0075	381	c.460 others(398): Show c.460-6206_460-6205insTGGGTCCTTCTATCCCCTGTGGTGTGGT GTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCAC CAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCT GGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTATGA GTGTGGTGTGGTCAGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGTCG GCACCAGGTCCTTCTGGCCCGTGGTGTGGTGTGGTCAGTACCAGGTCCTT CTATCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCATGG TGTGGTGTGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCAG TAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	511665	A A	ACCTTCCG others(374): Show ACCTTCCGCCTTCCACCTTCCACCTTCCACCTTCCACCTTCCTTCCACCT TCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTT CTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCTTCCACCTT CCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCC ACCTTCCACCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCAC CTTCTTCCACCTTCCACCTTCCACCTTCCGCCTTCTGCCTTCCACCTTCC ACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCA CCTTCCTTCCACCTTCCACCTTCGACCTTCCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp1 HG01109.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0091 a0001c0001t0020 a0001c0001t0091	a0001c0001t0020g0130 a0001c0001t0091g0232 a0001c0001t0020g0130 a0001c0001t0091g0232	2	177	0.0113	381	c.170 others(400): Show c.170-23488_170-23487insACCTTCCACCTTCCACCTTCCACCTT CCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGC CTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTC CTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTCCACCTTCCACCTTC CACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCGCCTTCTGCCT TCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTT CTGTCTTCCACCTTCCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGC CTTCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCHE_chr3_165767904_165842423	165797259	T T	TCCCCCCT others(374): Show TCCCCCCTCCCTTCCTTCTTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCC TTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTC CTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTC TTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18999.hp1 NA18975.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0147 a0001c0001t0001g0148	2	81	0.0247	381	c.151 others(402): Show c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG GGAGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG GGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGA GGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGG GGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA AGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAAGAAGGAAGGG AGGGGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(374): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	4	0.2500	381	c.565 others(400): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCC TCTCCTCCCCTCCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCC TCTTCCCTCCCCTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTC TTCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCC CCTCCCTGTCCCCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCC CTCCCCTACCCTTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTT CCCCTCCCCTCCCCTTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACC CTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(374): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGTGGGAGGAGGAAGG GGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01109.hp1 others(3): Show HG00099.hp2 HG00642.hp1 HG01109.hp1 HG01516.hp2 HG03654.hp1 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0008 a0001c0004t0001g0004 a0001c0004t0001g0008	6	13	0.4615	381	c.-70 others(390): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGT GGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BOK_chr2_241553745_241579131	241570766	T T	TGGGGGTG others(374): Show TGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAGTG GCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGA GTGGCGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGT GCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAG CGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0182 a0001c0001t0011g0182	1	427	0.0023	381	c.513 others(396): Show c.513+506_513+507insACAGAGGTACGGGAGGGAGTGGCGGATGGG TGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCA GAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGAT GGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTA CAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGG GGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGG ATGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG T	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C1orf159_chr1_1076823_1121089	1078158	G G	GGGACTCC others(374): Show GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGAGGCT GAGGCTATGGGACTCCGTGGGGGAGGCTGAGGCTATGGGGACTCCGTGGG GGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGACTCCGTGGGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	324	0.0031	381	c.47 others(392): Show c.4734_*4735insATAGCTCAGCCACCCCCCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCACGGAGTCCCATAGCCTCAGCCTCCCCCCACGGAGTC CCCATAGCCTCAGCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCC CACGGAGTCCCCATAGCCTCAGCCTCCCCCACGGAGTCCCATAGCCTCAG CCTCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3664		chr1	TogoVar
C2CD4C_chr19_400445_414147	404125	T T	TGGGGGGG others(374): Show TGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGG GGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCCT GCCCCGAGGGGTGTGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTG TGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGG GACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCCTG CCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTG TGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGG GACGGGGCCCTGCCCCGAGGGGTGTGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0108 a0001c0001t0135g0108	1	184	0.0054	381	c.29 others(392): Show c.2970_*2971insCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCC CCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACA CCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCCACACCCCTCGGGGCA GGGCCCCGTCCCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCC CCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACA CCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACACCCCTCGGGGCAG GGCCCCGTCCCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCC CCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1319		chr19	TogoVar
C7orf50_chr7_992006_1143247	1115793	C C	CGCCCACG others(374): Show CGCCCACGCAGGATGATGACATCACTACAGCTCTAGGACCGGCTTCCATC ACCGACGCCCACGCAGGATGACATCACTAAAGCTCTAGGGACGGCTTCCA TCACCAACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCGG CTTCCAGCACCGACGCCCACGCAGGATGATGACATCACTACAGCTCTACG GACCCGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTACAGC TCTACGGACCGGCTTCCATCACCGATGCCCACGCAGGATGACATAACTAC AGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGACTTCAC TACAGCTCTACGGACCGGCTTCCATCACCAAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18984.hp1 NA18612.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0177 a0001c0001t0004g0179	2	324	0.0062	381	c.129 others(400): Show c.129+11463_129+11464insCTTGGTGATGGAAGCCGGTCCGTAGA GCTGTAGTGAAGTCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGT AGAGCTGTAGTTATGTCATCCTGCGTGGGCATCGGTGATGGAAGCCGGTC CGTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAG CGGGTCCGTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGC TGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGT TGGTGATGGAAGCCGTCCCTAGAGCTTTAGTGATGTCATCCTGCGTGGGC GTCGGTGATGGAAGCCGGTCCTAGAGCTGTAGTGATGTCATCATCCTGCG TGGGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(374): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGACGAGAGGGAGAGGAGAGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	220	0.0045	381	c.803 others(395): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGA GACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GACGAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC6_chr10_59783747_59911556	59882498	G G	GCGGGAGA others(374): Show GCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGG GAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	270	0.0037	381	c.303 others(400): Show c.303+23623_303+23624insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCC CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGG CTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTC CTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTC TCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(374): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCC ACTTTGTGCCTGTATGGATTTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	165	0.0061	381	c.127 others(400): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACAC AGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGT AAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTC TGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATG GATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(374): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	273	0.0037	381	c.487 others(398): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CFAP61_chr20_20047532_20365698	20357730	C C	CACTGTGA others(374): Show CACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGG AGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTG AGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGT CACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGG GGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGCGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	232	0.0043	381	c.351 others(400): Show c.3514-2476_3514-2475insTGAGGGGAGGTGGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTC ACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCA TACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGA GGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGCGGGGAGGTGGTCA TACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFD_chr19_854664_868641	861083	G G	GCCCCGGG others(374): Show GCCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATGGGGACCCCGCCCCAC AACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCT CGGAGCCCCCCCACCCTCTGCACCCTCACCCCGGGTCCAGCCTCGAACTC TCCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACCCTCACCCCGGG TCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCTCTGCAC CCTCACCCCGGGTCCAGCCTCGACCTCTCCTGCTGCATGGGGACCCCGCC CCACAACCCCCACACCCTCACCCCTGGTCTAGCCTCGACCTCTCTTGCTG CGCTCGGAGCCCCCCCACCCTCTGCACCCTCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03579.hp2 HG03540.hp1 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0030 a0003c0004t0001g0030	2	284	0.0070	381	c.357 others(394): Show c.357+96_357+97insACTCTCCTGCTGCATGGGGACCCCGCCCCACA ACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTC GGAGCCCCCCCACCCTCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCT CCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACCCTCACCCCGGGT CTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCTCTGCACC CTCACCCCGGGTCCAGCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCC CACAACCCCCACACCCTCACCCCTGGTCTAGCCTCGACCTCTCTTGCTGC GCTCGGAGCCCCCCCACCCTCTGCACCCTCACCCCGGGTCCAGCCTCGA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLPTM1L_chr5_1312752_1350099	1333537	G G	GGGGGGAC others(374): Show GGGGGGACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTA TACACACCGGAAGAGGATAAGGGGGGACTACTGTAGACACACCGCAAGAG GATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTA CTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACATCGG ATGAGGATAAGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGA CTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACAC GGGATGAGGATAAGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGGACTACTGTATACACACCGGATGAGGATAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	368	0.0027	381	c.891 others(396): Show c.891+751_891+752insTTATCCTCATCCGGTGTGTATACAGTAGTC CCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCTTATCCTCATC CCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGT AGTCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCTTATCCTC ATCCGATGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATAC AGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTA TCCTCTTGCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCTTCCGGTGTG TATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTGTCTACAGTAGTCCCC C	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT1_chr16_58514951_58634826	58586375	G G	GGGGAGGG others(374): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGG GACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGG AAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGA GGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAG GGGAGGGAAGGGGAGGGAAGGGGAAGGGAAGGGGAGGGAAGGGAAGGGGA AGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	306	0.0033	381	c.637 others(396): Show c.637+169_637+170insTTCCCCTCCCCTCCCCTTCCCTCCCCTTCC CTTCCCCTTCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTCCCCTTCCCTC CCCTTCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTC CCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCC TTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCG TCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTC CCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTC CCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCC C	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124811981	A A	AAATTTAT others(374): Show AAATTTATATTTATATATTATATAATATATAATTTATATTTATATATTAT ATAATATATAATTTATATTTATATATTATATTATATATTTATATTATATA TTATATAATATATAATTTATATTTATATATTATATAATATATAATTTATA TATATATTATATAATATATAATTTATATTATATATTATATAATATATTTT ATATTTGTATATTATATAATATATAATTTATATTATATATTATATATATA ATTTATATTATATATATAATATGTAATATATATTATATAATTTATATTTA TATATTATATATTATATAATATATAATTTATATTTATATATTATATAATA TATAATTTATATTTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG02886.hp1 others(2): Show HG01891.hp2 HG02723.hp1 HG02886.hp1 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003	a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0002t0001g0059 others(2): Show a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0002t0001g0059 a0001c0002t0003g0004 a0001c0002t0003g0056	5	58	0.0862	381	c.321 others(402): Show c.3217+13741_3217+13742insTATATATTTATATTATATATTATA TAATATATAATTTATATTTATATATTATATAATATATAATTTATATATAT ATTATATAATATATAATTTATATTATATATTATATAATATATTTTATATT TGTATATTATATAATATATAATTTATATTATATATTATATATATAATTTA TATTATATATATAATATGTAATATATATTATATAATTTATATTTATATAT TATATATTATATAATATATAATTTATATTTATATATTATATAATATATAA TTTATATTTATATATTATATAATATATAATTTATATTTATATATTATATA ATATATAATTTATATTTATATATTATATAATATATAATTTATATTTATAT ATTATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647359	A A	ACCCTCCT others(374): Show ACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGC CCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATA CCCCTTCTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTC AACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACAC CTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATCCCTC CTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCT CCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCATC CCCTCCACACCCCTCCCCCTCCTCACCCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	140	0.0071	381	c.52 others(392): Show c.5219_*5220insCCCTCCTCCTTCACACCCCTCACCCCTTTTCCAC ATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCC TTCTCCTCCTCCATACCCCTTCTCCTCCTCCACACCCCTTCTCCTCCTCC ATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCT TCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCC TCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTC CAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACAT CCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2015		chr15	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(374): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAT GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGAATGG AGGGATGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAA GGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGG AGGGGGAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0021 a0004c0007t0021	a0004c0007t0021g0032 a0004c0007t0021g0032	1	97	0.0103	381	c.923 others(400): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCC TTCCCCTTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC ATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC CTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	656163	A A	ATTCTGTT others(374): Show ATTCTGTTACCCTATATAACGCTATACTATTTGTCCTATTGTATACTATA CTATATAATGTTACACTGTTTCTTCTATTCTATGCTACCTTATATAACGC TATACTATTTGTCCTATTGTATACTATACTATATAATGTTACACTGTTTC TTCTATTCTATGCTACCTTATATAACGCTATACTATTTGTCCTATTGTAT ACTATACTATATAATGTTACACTTCCTTCTATTCTATGCTACCCTATATA ACGCTACACTATTTGTCCTATTGTATACTATACTATATAATGTTACACTG TTTCTTCTATTCTATGCTACCCTATATAACGCTATACTATTTGTCCTATT GTATACTATACTATATAATGTTACACTGTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0009 a0001c0019t0006g0009	1	70	0.0143	381	c.85+ others(398): Show c.85+33330_85+33331insGAAACAGTGTAACATTATATAGTATAGT ATACAATAGGACAAATAGTATAGCGTTATATAGGGTAGCATAGAATAGAA GAAACAGTGTAACATTATATAGTATAGTATACAATAGGACAAATAGTGTA GCGTTATATAGGGTAGCATAGAATAGAAGGAAGTGTAACATTATATAGTA TAGTATACAATAGGACAAATAGTATAGCGTTATATAAGGTAGCATAGAAT AGAAGAAACAGTGTAACATTATATAGTATAGTATACAATAGGACAAATAG TATAGCGTTATATAAGGTAGCATAGAATAGAAGAAACAGTGTAACATTAT ATAGTATAGTATACAATAGGACAAATAGTATAGCGTTATATAGGGTAACA GAA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	656163	A A	ATTCTGTT others(374): Show ATTCTGTTACCCTATATAACGCTATACTATTTGTCCTATTGTATACTATA CTATATAATGTTACACTGTTTCTTCTATTCTATGCTACCTTATATAACGC TATACTATTTGTCCTATTGTATACTATACTATATAATGTTACACTGTTTC TTCTATTCTATGCTACCTTATATAACGCTATACTATTTGTCCTATTGTAT ACTATACTATATAATGTTACACTTCCTTCTATTCTATGCTACCCTATATA ACGCTATACTATTTGTCCTATTGTATACTATACTATATAATGTTACACTG TTTCTTCTATTCTATGCTACCCTATATAACGCTATACTATTTGTCCTATT GTATACTATACTATATAATGTTACACTGTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01258.hp1 others(15): Show HG00597.hp2 HG01099.hp2 HG01258.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp1 HG02165.hp2 HG02717.hp1 HG02922.hp2 HG03130.hp1 HG03453.hp1 HG03942.hp2 NA18747.hp2 NA18906.hp1 NA18962.hp1 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0008t0001 a0001c0009t0001 a0001c0018t0003	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0008 a0001c0001t0004g0019 a0001c0001t0005g0023 a0001c0001t0010g0020 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0003t0002g0021 a0001c0004t0001g0086 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0005t0002g0087 a0001c0008t0001g0017 a0001c0008t0001g0018 a0001c0009t0001g0013 a0001c0018t0003g0007	18	87	0.2069	381	c.85+ others(398): Show c.85+33330_85+33331insGAAACAGTGTAACATTATATAGTATAGT ATACAATAGGACAAATAGTATAGCGTTATATAGGGTAGCATAGAATAGAA GAAACAGTGTAACATTATATAGTATAGTATACAATAGGACAAATAGTATA GCGTTATATAGGGTAGCATAGAATAGAAGGAAGTGTAACATTATATAGTA TAGTATACAATAGGACAAATAGTATAGCGTTATATAAGGTAGCATAGAAT AGAAGAAACAGTGTAACATTATATAGTATAGTATACAATAGGACAAATAG TATAGCGTTATATAAGGTAGCATAGAATAGAAGAAACAGTGTAACATTAT ATAGTATAGTATACAATAGGACAAATAGTATAGCGTTATATAGGGTAACA GAA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DOCK8_chr9_209865_470255	400619	A A	ACCATCAC others(374): Show ACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCAC CGCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCA CCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACTATCACCACCACCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0001 a0002c0107t0001	a0002c0107t0001g0073 a0002c0107t0001g0073	1	216	0.0046	381	c.323 others(400): Show c.3234+1363_3234+1364insTCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCGCCACCATCACCACCACCTCCACCATCAC CACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACCTC CACCATCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCAGCA TCTTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCAC CGCCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAT others(374): Show CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTG AGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCT GGGTGTCGAGGAAGGAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG03239.hp1 HG01074.hp1 HG01081.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0127 a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0127	3	236	0.0127	381	c.215 others(398): Show c.2155-357_2155-356insCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAAT GACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCTGT GTT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4EBP2_chr10_70399145_70433618	70408035	A A	ACCCCCCC others(374): Show ACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGCGGCTGGCCGGGTGGGGGGGATGACCCCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACCTCCCTCCC GGAAGGGGTGGCTGGCTGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	405	0.0025	381	c.145 others(398): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGGATGACCCC CCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTC CCCACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
ELANE_chr19_847303_861243	861083	G G	GCCCCGGG others(374): Show GCCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATGGGGACCCCGCCCCAC AACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCT CGGAGCCCCCCCACCCTCTGCACCCTCACCCCGGGTCCAGCCTCGAACTC TCCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACCCTCACCCCGGG TCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCTCTGCAC CCTCACCCCGGGTCCAGCCTCGACCTCTCCTGCTGCATGGGGACCCCGCC CCACAACCCCCACACCCTCACCCCTGGTCTAGCCTCGACCTCTCTTGCTG CGCTCGGAGCCCCCCCACCCTCTGCACCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03540.hp2 HG03579.hp2 HG02486.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	400	0.0075	381	c.49 others(392): Show c.4919_*4920insCCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATG GGGACCCCGCCCCACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGAC CTCTCTTGCTGCGCTCGGAGCCCCCCCACCCTCTGCACCCTCACCCCGGG TCCAGCCTCGAACTCTCCTGCTGCATGGGGACCCCGCCCCACAACCCCCA CACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCC CCCCACCCTCTGCACCCTCACCCCGGGTCCAGCCTCGACCTCTCCTGCTG CATGGGGACCCCGCCCCACAACCCCCACACCCTCACCCCTGGTCTAGCCT CGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCTCTGCACCCTCA	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		4841		chr19	TogoVar

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