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
USF3_chr3_113643385_113701642	113683243	C C	CTCTAGTT others(301): Show CTCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAA ACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCT ATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTT TAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCT AGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTA TTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAA AAACTATTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0082 a0008c0015t0082	a0008c0015t0082g0052 a0008c0015t0082g0052	1	174	0.0057	308	c.-13 others(327): Show c.-134-5847_-134-5846insTAATAGTTTTTATAGATTAAAAACTA GATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAA AAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATA GATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTT TTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATA ATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAAAAAC TAGATAATAGTTTTTATAGATTAAAAACTAGA	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	1/6			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159129212	T T	TGGGGACA others(301): Show TGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGA CTCTGGTGGGGACAGGGCCAGGTGAGCAGCTTCACACTCTGTTCCCTCAA ACTGGCCTCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGC TTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTG ACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGC CAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGGGGGGA CAGGGCTGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG02897.hp1 others(3): Show HG01891.hp1 HG02647.hp2 HG02897.hp1 HG03041.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0012 a0001c0013 a0001c0005 a0001c0012 a0001c0013	a0001c0005t0006 a0001c0005t0013 a0001c0012t0008 others(2): Show a0001c0005t0006 a0001c0005t0013 a0001c0012t0008 a0001c0013t0007 a0001c0013t0012	a0001c0005t0006g0078 a0001c0005t0013g0176 a0001c0005t0013g0177 others(3): Show a0001c0005t0006g0078 a0001c0005t0013g0176 a0001c0005t0013g0177 a0001c0012t0008g0076 a0001c0013t0007g0075 a0001c0013t0012g0199	6	305	0.0197	308	c.151 others(327): Show c.151+13233_151+13234insCCAGCCCTGTCCCCCCCAGAGGCCAG TTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGA GTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCC ACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCT GTCCCCCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGAGGGAACAGAGTGT GAAGCTGCTCACCTGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACA GAGTGTGAAGCTGGTCACCTGGCCCTGTCCCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(301): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC ATAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	192	0.0052	308	c.802 others(325): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(301): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01074.hp2 others(21): Show HG00639.hp1 HG00639.hp2 HG01074.hp2 HG01168.hp2 HG01358.hp1 HG01928.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp1 HG02083.hp2 HG02486.hp2 HG03491.hp2 HG04204.hp1 NA18612.hp2 NA18941.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18999.hp2 NA19063.hp2 NA19066.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0052 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0320 a0001c0001t0002g0293 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0037 a0001c0004t0001g0009 a0002c0002t0001g0132 a0002c0002t0001g0227 a0003c0003t0001g0047 a0003c0003t0001g0051	24	215	0.1116	308	c.802 others(325): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(301): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(71): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp1 HG04228.hp1 NA18612.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19056.hp2 NA19060.hp2 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0009 others(4): Show a0001c0001 a0001c0004 a0001c0009 a0001c0011 a0002c0002 a0002c0016 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0004t0003 a0001c0009t0001 a0001c0011t0004 a0002c0002t0002 a0002c0002t0003 a0002c0016t0003 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0050 others(70): Show a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0262 a0001c0001t0001g0325 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0287 a0001c0001t0002g0297 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0004g0089 a0001c0001t0006g0283 a0001c0004t0003g0001 a0001c0009t0001g0075 a0001c0009t0001g0230 a0001c0011t0004g0023 a0002c0002t0002g0302 a0002c0002t0003g0029 a0002c0016t0003g0034 a0003c0003t0001g0102 a0003c0003t0001g0117 a0003c0003t0001g0229 a0003c0003t0001g0240 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0002g0300	74	265	0.2792	308	c.802 others(325): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(301): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC TTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01074.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0002g0286 a0001c0001t0001g0106 a0001c0001t0002g0286	2	193	0.0104	308	c.802 others(325): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCTTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(301): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	301	0.0033	308	c.53+ others(323): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VSIG10L_chr19_51326541_51347139	51345993	C C	CCTCCCTA others(301): Show CCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGAT GATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCT ATAGGCTGAGATGATGCGCAGAACCCTCCTAGCTGATGATGCGCTGAACC CTCCCTATAGGCTGAGATGATGCGCTGAACCCCTCCCTATAGGCTGAGAT GATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCT ATAGGCTGAGATGATGCCGCTGAAGACCCTGCCTATAGACTGAGATGATG CGCTGAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	339	0.0029	308	c.-38 others(319): Show c.-3870_-3869insAGTTCAGCGCATCATCTCAGTCTATAGGCAGGGT CTTCAGCGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGGTTCA GCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCAGCTAGGAG GGTTCTGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAG CGCATCATCTCAGCCTATAGGGAG	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3855		chr19	TogoVar
WDR89_chr14_63592039_63646871	63620897	C C	CAAAAAAA others(301): Show CAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	227	0.0044	308	c.-32 others(325): Show c.-32+4030_-32+4031insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACGACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTTTTTTTTTTTTT	WDR89	ENSG00000140006.12	transcript	ENST00000620954.2	protein_coding	2/2			chr14	TogoVar
WNK1_chr12_747579_916452	878786	T T	TTTTTTTT others(301): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGT CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18959.hp2 NA18963.hp1 others(1): Show HG02056.hp2 NA18959.hp2 NA18963.hp1 NA19080.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0003 a0005c0006t0009 a0004c0004t0003 a0005c0006t0009	a0004c0004t0003g0072 a0004c0004t0003g0077 a0004c0004t0003g0098 others(1): Show a0004c0004t0003g0072 a0004c0004t0003g0077 a0004c0004t0003g0098 a0005c0006t0009g0038	4	246	0.0163	308	c.237 others(325): Show c.2373+433_2373+434insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTTTTTTT	WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(301): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAG GGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG AGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGG AGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	125	0.0080	308	c.-41 others(319): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG AGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGG AGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGAC CGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAG AGGGAGACCGTGGGGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZNF182_chrX_47969851_48008989	47971402	T T	TGTATACA others(301): Show TGTATACATATGTATATACACGTGTATACGTATACATATGTATATACACG TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA19012.hp1 HG02559.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0007g0053 a0001c0001t0001g0001 a0001c0001t0007g0053	2	220	0.0091	308	c.47 others(319): Show c.4764_*4765insGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATACACGTGTATATACATATGTATACGTAT ACACGTGTATATACATATGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3448		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971450	C C	CGTGTATA others(301): Show CGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTA TATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACA TATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACG TATACATATGTATATACACGTGTATACGTATACATATGTATATACACGTG TATACGTATACATATGTATATACACGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTA TATACACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	267	0.0037	308	c.47 others(319): Show c.4716_*4717insACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC GTGTATATACATATGTATACGTATACACGTGTATATACATATGTATACGT ATACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGT ATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATAC ATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATACAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3400		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971480	T T	TGTATACG others(301): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTGTATATGTACACATATG TATATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0038 a0001c0001t0009g0038	1	92	0.0109	308	c.46 others(319): Show c.4686_*4687insTTGTATATACATATGTGTACATATACACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3370		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971480	T T	TGTATACG others(301): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTGTATATGTATACATATG TATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	92	0.0109	308	c.46 others(319): Show c.4686_*4687insGTGTATATACATATGTATACATATACACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3370		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971510	T T	TGTATACG others(301): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTGTATATGTATACATATG TATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02717.hp1 others(1): Show HG02622.hp2 HG02630.hp2 HG02717.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0054 a0001c0001t0003g0010 a0001c0001t0003g0054	4	251	0.0159	308	c.46 others(319): Show c.4656_*4657insGTGTATATACATATGTATACATATACACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3340		chrX	TogoVar
ZNF492_chr19_22629324_22672671	22636886	G G	GGCCTCCC others(301): Show GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAA TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCC AGGCTGGAGTGCAATAGTGCCATTTCGGCTCACTGCAACCTCCGTCTCCC GGGTTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GCATGCGCCACCTCTCCTAGCTAATTTTGTACTTTTAGTAGAGACAGTGT TTCTCCATGTTGGTCAGGCTCGTCTTGACCTCCCGACCTCAGGTGATCCA CTCACCTCA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0052 a0002c0002t0036g0052	1	258	0.0039	308	c.-94 others(325): Show c.-94+2449_-94+2450insGTGCCCGGCCAATTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATA GTGCCATTTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGGGATTCT CCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCTCTC CTAGCTAATTTTGTACTTTTAGTAGAGACAGTGTTTCTCCATGTTGGTCA GGCTCGTCTTGACCTCCCGACCTCAGGTGATCCACTCACCTCAGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACC	ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF804B_chr7_88754700_89343528	88855316	T T	TCTCATTG others(301): Show TCTCATTGTGGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCAC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0075 a0001c0004t0002g0075	1	138	0.0072	308	c.108 others(327): Show c.108+95246_108+95247insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCTCATTGTGGTTTT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88855316	T T	TCTCATTG others(301): Show TCTCATTGTGGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00673.hp2 others(24): Show HG00558.hp1 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG01256.hp1 HG01358.hp1 HG01978.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03579.hp2 NA18522.hp1 NA18747.hp1 NA18962.hp1 NA18968.hp1 NA18992.hp2 NA18998.hp2 NA19009.hp2 NA19058.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0009 a0010 a0012 a0020	a0001c0001 a0001c0004 a0002c0002 others(9): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007 a0002c0022 a0003c0003 a0003c0005 a0006c0009 a0009c0012 a0010c0011 a0012c0028 a0020c0030	a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 a0001c0004t0014 a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 a0002c0007t0001 a0002c0007t0004 a0002c0022t0001 a0003c0003t0003 a0003c0005t0003 a0006c0009t0004 a0009c0012t0001 a0010c0011t0001 a0012c0028t0003 a0020c0030t0002	a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0005g0071 others(24): Show a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0005g0071 a0001c0004t0002g0151 a0001c0004t0014g0077 a0001c0004t0014g0078 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0090 a0002c0002t0004g0085 a0002c0002t0012g0089 a0002c0007t0001g0146 a0002c0007t0004g0083 a0002c0022t0001g0086 a0003c0003t0003g0020 a0003c0003t0003g0064 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0005t0003g0066 a0003c0005t0003g0147 a0003c0005t0003g0152 a0006c0009t0004g0084 a0009c0012t0001g0061 a0010c0011t0001g0087 a0012c0028t0003g0019 a0020c0030t0002g0069	27	164	0.1646	308	c.108 others(327): Show c.108+95246_108+95247insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCTCATTGTGGTTTT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(301): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATTTCTATATATATAAATATAT ATATATTTCTATATATATAAATATATATATATTTCTATATATATAAATAT ATATATATTTCTATTTATATATATATATATATTTATATATATAGAAATAT ATATATATTTATATATATATAAAATATATATTTATATATATATAAAATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0184 a0001c0001t0011g0184	1	59	0.0169	308	c.532 others(323): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATATAAATAGAAATATATATATATTTATATATATAGAAATA TATATATATTTATATATATAGAAATATATATATATTTATATATATAGAAA TATATATATATTTATATATATAGAAATATATATATATTTATATATATAGA AATATATATATATTTATATATATAGAAATATATATATATTTATATATATA GAAATATATATATTTATATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ACSS2_chr20_34871612_34932959	34885959	T T	TAGGCAAT others(302): Show TAGGCAATTACTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCC CTGGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0014 a0008c0012t0001g0014	1	301	0.0033	309	c.374 others(326): Show c.374+2985_374+2986insTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCAGGCAATTACTATTT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACTG2_chr2_73888008_73924865	73898352	T T	TGCACCTT others(302): Show TGCACCTTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18992.hp1 NA19082.hp2 HG02056.hp2 NA18992.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0152 a0001c0001t0003g0107 a0001c0001t0003g0247 a0001c0001t0001g0152 a0001c0001t0003g0107 a0001c0001t0003g0247	3	182	0.0165	309	c.-36 others(326): Show c.-36-2913_-36-2912insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGCACCTTTTCT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(302): Show ACCATTTTAAACATTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCACTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02055.hp2 HG02572.hp2 others(1): Show HG01981.hp1 HG02055.hp2 HG02572.hp2 HG03688.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0007 a0002c0072 a0005c0044 others(1): Show a0001c0007 a0002c0072 a0005c0044 a0006c0055	a0001c0007t0010 a0002c0072t0050 a0005c0044t0013 others(1): Show a0001c0007t0010 a0002c0072t0050 a0005c0044t0013 a0006c0055t0029	a0001c0007t0010g0011 a0002c0072t0050g0183 a0005c0044t0013g0005 others(1): Show a0001c0007t0010g0011 a0002c0072t0050g0183 a0005c0044t0013g0005 a0006c0055t0029g0033	4	75	0.0533	309	c.790 others(326): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(302): Show ACCATTTTAAACATTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCACTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0012 a0006c0016t0012	a0006c0016t0012g0201 a0006c0016t0012g0201	1	72	0.0139	309	c.790 others(326): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(302): Show ACCATTTTAAACATTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG02055.hp1 others(8): Show HG01243.hp1 HG01358.hp2 HG02055.hp1 HG02630.hp2 HG02895.hp2 HG02970.hp2 HG03209.hp2 HG03654.hp2 HG03704.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0005 a0001c0007 a0001c0021 others(6): Show a0001c0005 a0001c0007 a0001c0021 a0001c0025 a0001c0033 a0003c0006 a0003c0009 a0005c0026 a0009c0027	a0001c0005t0004 a0001c0007t0006 a0001c0021t0006 others(8): Show a0001c0005t0004 a0001c0007t0006 a0001c0021t0006 a0001c0021t0016 a0001c0025t0008 a0001c0033t0015 a0003c0006t0003 a0003c0006t0045 a0003c0009t0003 a0005c0026t0005 a0009c0027t0001	a0001c0005t0004g0193 a0001c0007t0006g0202 a0001c0021t0006g0171 others(8): Show a0001c0005t0004g0193 a0001c0007t0006g0202 a0001c0021t0006g0171 a0001c0021t0016g0113 a0001c0025t0008g0208 a0001c0033t0015g0178 a0003c0006t0003g0027 a0003c0006t0045g0115 a0003c0009t0003g0052 a0005c0026t0005g0195 a0009c0027t0001g0196	11	82	0.1341	309	c.790 others(326): Show c.790-8337_790-8336insGCCGGGCGCGGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADCY2_chr5_7391138_7835081	7704000	C C	CAAAAAAA others(302): Show CAAAAAAAAAAAAAAGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02280.hp2 others(6): Show HG00639.hp2 HG02055.hp2 HG02280.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0013 others(3): Show a0001c0001 a0001c0007 a0001c0013 a0001c0025 a0002c0002 a0002c0004	a0001c0001t0006 a0001c0007t0006 a0001c0013t0002 others(4): Show a0001c0001t0006 a0001c0007t0006 a0001c0013t0002 a0001c0025t0004 a0002c0002t0001 a0002c0002t0005 a0002c0004t0001	a0001c0001t0006g0051 a0001c0007t0006g0021 a0001c0007t0006g0089 others(6): Show a0001c0001t0006g0051 a0001c0007t0006g0021 a0001c0007t0006g0089 a0001c0013t0002g0082 a0001c0025t0004g0110 a0002c0002t0001g0083 a0002c0002t0005g0045 a0002c0004t0001g0041 a0002c0004t0001g0053	9	70	0.1286	309	c.111 others(328): Show c.1110-2731_1110-2730insAGTTTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTT CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCT GCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY5_chr3_123277296_123454090	123407765	C C	CAAAAAAA others(302): Show CAAAAAAAAAAAAGTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0090 a0001c0005t0029g0090	1	153	0.0065	309	c.113 others(330): Show c.1134+39646_1134+39647insTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAACTTTTTTTTTTTT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
AFAP1_chr4_7753714_7944861	7790660	T T	TAAAAACA others(302): Show TAAAAACACTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0018 a0001c0012t0018	a0001c0012t0018g0201 a0001c0012t0018g0201	1	312	0.0032	309	c.141 others(328): Show c.1412+3020_1412+3021insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTAAAGTGTTTTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	11/17			chr4	TogoVar
AHSA1_chr14_77453093_77474472	77460457	T T	TAAAGAAG others(302): Show TAAAGAAGGGTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02572.hp2 HG02615.hp2 HG01070.hp1 HG02572.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0045 a0001c0003t0001g0128 a0001c0003t0001g0129	3	243	0.0123	309	c.271 others(324): Show c.271+663_271+664insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAGAAGGGTGC	AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP10_chr17_19899302_19982828	19910326	A A	AAAAAAAA others(302): Show AAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCATGGTGGCTCACACCTGTA ATCCTAGCACTTTGGGAGGCTGAGGTGGATGGATCACCTGAGGTCAGGAG TTTGAGACCAGCCTGGCCAACATGACGAAACCATGTCTCTACTAAAAATA TAAATAATAAAAAAAATTAGCTGGGTAGTAGGCACCTGTAATCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCAGGAGGCGGAGGTTG CAGTAAGTCTAGATCGCACCATTGCACTACAGTCTGGGTGACAGAGCAAG ACTCTGTCTC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19068.hp2 NA18975.hp2 NA19068.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0243 a0003c0003t0005g0248 a0003c0003t0005g0243 a0003c0003t0005g0248	2	260	0.0077	309	c.183 others(326): Show c.1835-349_1835-348insGAGACAGAGTCTTGCTCTGTCACCCAGA CTGTAGTGCAATGGTGCGATCTAGACTTACTGCAACCTCCGCCTCCTGGG TTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTG CCTACTACCCAGCTAATTTTTTTTATTATTTATATTTTTAGTAGAGACAT GGTTTCGTCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGAT CCATCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCA TGCCCGGCCTTTTTTTTTTTTTTTTTTTTTT	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	12/14			chr17	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(302): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AGAGTGGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG02040.hp1 others(21): Show HG00408.hp2 HG00544.hp2 HG02040.hp1 NA18942.hp2 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18970.hp1 NA18972.hp2 NA18977.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19087.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0011c0014	a0001c0001t0005 a0001c0006t0005 a0001c0011t0005 others(1): Show a0001c0001t0005 a0001c0006t0005 a0001c0011t0005 a0011c0014t0005	a0001c0001t0005g0007 a0001c0001t0005g0109 a0001c0001t0005g0152 others(20): Show a0001c0001t0005g0007 a0001c0001t0005g0109 a0001c0001t0005g0152 a0001c0001t0005g0175 a0001c0001t0005g0224 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0250 a0001c0001t0005g0312 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0006t0005g0123 a0001c0006t0005g0124 a0001c0011t0005g0293 a0011c0014t0005g0242	24	250	0.0960	309	c.186 others(328): Show c.1863+2109_1863+2110insTTCCCACTCTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(302): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCGCTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAGTGGGAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	227	0.0044	309	c.186 others(328): Show c.1863+2109_1863+2110insTTCCCACTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(302): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCGCTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AGAGTGGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(79): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01169.hp2 HG01346.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18942.hp1 NA18947.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp2 NA19057.hp2 NA19077.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0004	a0001c0001t0004 a0001c0001t0014 a0001c0001t0036 others(8): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0036 a0001c0002t0002 a0001c0002t0010 a0001c0002t0015 a0001c0002t0024 a0001c0002t0033 a0001c0002t0035 a0001c0013t0002 a0002c0004t0002	a0001c0001t0004g0031 a0001c0001t0004g0039 a0001c0001t0004g0040 others(79): Show a0001c0001t0004g0031 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0051 a0001c0001t0004g0116 a0001c0001t0004g0192 a0001c0001t0004g0219 a0001c0001t0004g0230 a0001c0001t0004g0256 a0001c0001t0004g0281 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0368 a0001c0001t0014g0362 a0001c0001t0036g0033 a0001c0002t0002g0029 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0125 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0002t0002g0154 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0165 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0238 a0001c0002t0002g0248 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0300 a0001c0002t0002g0327 a0001c0002t0002g0339 a0001c0002t0002g0373 a0001c0002t0010g0076 a0001c0002t0015g0100 a0001c0002t0015g0269 a0001c0002t0015g0282 a0001c0002t0024g0186 a0001c0002t0033g0164 a0001c0002t0035g0176 a0001c0013t0002g0135 a0001c0013t0002g0136 a0002c0004t0002g0163 a0002c0004t0002g0227 a0002c0004t0002g0259 a0002c0004t0002g0310	82	308	0.2662	309	c.186 others(328): Show c.1863+2109_1863+2110insTTCCCACTCTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALG5_chr13_36944738_37004340	36994603	T T	TAAAAGTT others(302): Show TAAAAGTTAACAGCATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC CGTCTCTACTAAAAGTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 NA19043.hp1 others(1): Show HG02572.hp1 HG03453.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044	4	256	0.0156	309	c.285 others(324): Show c.285+385_285+386insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACATGCTGTTAACTTTT	ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	3/9			chr13	TogoVar
ALS2_chr2_201695267_201785933	201766722	G G	GAAAATGT others(302): Show GAAAATGTGGCACATAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	169	0.0059	309	c.175 others(324): Show c.175+506_175+507insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCACCCGGCCTATGTGCCACATTTT	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	3/33			chr2	TogoVar
AMPH_chr7_38378704_38636373	38438564	T T	TCATTATT others(302): Show TCATTATTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp2 HG01496.hp1 others(2): Show HG00140.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0003 a0001c0002t0002 a0001c0007t0005 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0007t0005 a0001c0007t0008	a0001c0001t0003g0249 a0001c0002t0002g0243 a0001c0007t0005g0073 others(2): Show a0001c0001t0003g0249 a0001c0002t0002g0243 a0001c0007t0005g0073 a0001c0007t0005g0113 a0001c0007t0008g0283	5	284	0.0176	309	c.101 others(328): Show c.1018-2177_1018-2176insGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAGGAAATAATG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
ANKRD11_chr16_89262630_89495561	89341900	A A	ACCCACAG others(302): Show ACCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAA CAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCC ACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGC CCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATG GCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGT GCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGC ACCTCCACTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	254	0.0039	309	c.-59 others(328): Show c.-59-24823_-59-24822insCAGTGGAGGTGCAGCACTCCCGCCGT GGGCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCT GTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGC TGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGG GCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGA GGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGC AGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANO3_chr11_26327130_26668289	26580099	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0177 a0001c0004t0004g0177	1	154	0.0065	309	c.144 others(330): Show c.1448-18266_1448-18265insTTTTTTTTTTTTTCTTTTTCTTTT TCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26			chr11	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(302): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01516.hp1 HG01346.hp2 HG01516.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0120 a0002c0001t0001g0180 a0002c0001t0001g0120 a0002c0001t0001g0180	2	208	0.0096	309	c.494 others(324): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ANXA2_chr15_60342151_60402986	60365044	A A	ATGGCAGT others(302): Show ATGGCAGTTGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	149	0.0067	309	c.149 others(324): Show c.149-522_149-521insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAATACAACTGCCA	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
APBB2_chr4_40805027_41219542	41159940	G G	GAGGAGGA others(302): Show GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0027 a0002c0001t0027	a0002c0001t0027g0018 a0002c0001t0027g0018	1	152	0.0066	309	c.-41 others(330): Show c.-416-16799_-416-16798insTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
ARFGAP1_chr20_63267813_63294790	63294164	G G	GGGGATGC others(302): Show GGGGATGCGGTGGGGGGGAGGGGGGGAGTGCGGGGGGGAGGGGGGAGGGG TGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGAGGGAGGGGG AGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGGAGGGGGAGTGCGGGGG GAGGGGAGTGCGGGGGTAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGG GAGGGGGAGTGTGGGGGGGGAGGGAGGAGCGGGCGGGGAGGGGAGAGTGG AGGCCTGGGGAGCGGAGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCT GCCGAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	333	0.0030	309	c.62 others(320): Show c.6291_*6292insGGGATGCGGTGGGGGGGAGGGGGGGAGTGCGGGG GGGAGGGGGGAGGGGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTG CGGGGAGGGAGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGGA GGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGTAGGGGGAGTGCGGGGGAA GGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGAGGAGCGGGCG GGGAGGGGAGAGTGGAGGCCTGGGGAGCGGAGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGC	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4375		chr20	TogoVar
ARHGAP24_chr4_85470150_86007666	85549217	T T	TAAGAAAT others(302): Show TAAGAAATTGCCAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAGTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0071 a0001c0005t0019g0071	1	60	0.0167	309	c.-20 others(328): Show c.-20-21293_-20-21292insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAGTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAGAAATTGCCA	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGDIG_chr16_275591_288010	285902	T T	TCCCAACC others(302): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	412	0.0024	309	c.30 others(320): Show c.3088_*3089insCCCAACCCCAACCCCAACCCCAACCCCAACCCCA ACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACC CCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2893		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1873521	C C	CCCGCGGG others(302): Show CCCGCGGGGTAGTGCACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGC GGGGTAGCGCACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGT AGTGCACCCGCATTTCCTCGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCA CCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCCGC ATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCC TCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCATCCGCATTTCCTCGCG TTGAGAGGTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0344 a0001c0001t0010g0344	1	359	0.0028	309	c.680 others(326): Show c.680-3033_680-3032insTGCATTTCCTCGTTGCGTTGAGAGGTGC CCGCGGGGTAGCGCACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCG GGGTAGTGCACCCGCATTTCCTCGTTGCCTTGAGAGGTGCCGCGGGGTAG TGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCAC CCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCAT TTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCATCCGCATTTCCT CGCGTTGAGAGGTACCGCGGGGTAGTGCACC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873603	A A	AGAGGTGC others(302): Show AGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGG TGCCGCGGGGTAGTGCACCCACATTTCCTCGTTGCGTTGAGAGGTGCCCG CGGGGTAGTGCACCCGCATTTCCTCGTTTCATTGAGGTGCCCGCGGGGTA GTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCA CCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCACA TTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCC TCGTTTCATT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18974.hp2 NA18961.hp2 NA18974.hp2	a0001 a0001	a0001c0070 a0001c0071 a0001c0070 a0001c0071	a0001c0070t0001 a0001c0071t0002 a0001c0070t0001 a0001c0071t0002	a0001c0070t0001g0165 a0001c0071t0002g0164 a0001c0070t0001g0165 a0001c0071t0002g0164	2	276	0.0072	309	c.680 others(326): Show c.680-2899_680-2898insACATTTCCTCGTTGCGTTGAGAGGTGCC CGCGGGGTAGTGCACCCGCATTTCCTCGTTTCATTGAGGTGCCCGCGGGG TAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTG CACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCA CATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTT CCTCGTTTCATTGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTT GCCTTGAGAGGTGCCGCGGGGTAGTGCACCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(302): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCCA TCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	2	0.5000	309	c.-14 others(324): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGG AGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGG AGGGCTGACCCCCCCCATCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(302): Show GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCA TCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	2	0.5000	309	c.-14 others(324): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGT GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGG GAGGGCTGACCCCCCCATCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMH3_chr10_101840599_102061173	102000595	C C	CAAAAAAT others(302): Show CAAAAAATACATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03195.hp1 others(1): Show HG02451.hp2 HG02976.hp1 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066	4	175	0.0229	309	c.115 others(328): Show c.1150+1375_1150+1376insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTATGTATTTTTT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	15/25			chr10	TogoVar
ART3_chr4_76069709_76117786	76102655	T T	TAATATTA others(302): Show TAATATTAACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGAC TACAGGCACTCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCATCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19065.hp1 NA18978.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0161 a0001c0001t0001g0115 a0001c0001t0001g0161	2	319	0.0063	309	c.938 others(326): Show c.938-1269_938-1268insTTTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTA GCTGGGACTACAGGCACTCGCCACCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTCATCGTGTTACCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACCGCGCCCGGCCAATATTAACTTTT	ART3	ENSG00000156219.18	transcript	ENST00000355810.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr4	TogoVar

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