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
ACOX1_chr17_75936507_75984166	75967671	C C	CGTATATA others(98): Show CGTATATATACACGTATATATATATACTATATATATACGTGTATATATAT ATACATATATATATACACGTGTATATATATACGTATATATATATACACGT ATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19240.hp1 HG01934.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0053 a0001c0001t0002 a0003c0005t0053	a0001c0001t0002g0304 a0003c0005t0053g0305 a0001c0001t0002g0304 a0003c0005t0053g0305	2	341	0.0059	105	c.270 others(122): Show c.270-7297_270-7296insATATATACGTGTATATATATATACGTAT ATATATACACGTGTATATATATATGTATATATATATACACGTATATATAT AGTATATATATATACGTGTATATATAC	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACSM2B_chr16_20531226_20581367	20566658	A A	AGTATATA others(98): Show AGTATATATATACTATATATACTATATATACTATATATAATATATACTAT ATATAGTATATATACTATATATAGTATATACTATATATACTATATATAGT ATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0125 a0003c0008t0003g0125	1	216	0.0046	105	c.-8- others(120): Show c.-8-1806_-8-1805insATATATACTATATATAGTATATATAGTATA TACTATATATAGTATATATACTATATATAGTATATATTATATATAGTATA TATAGTATATATAGTATATATATAC	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACTN4_chr19_38642649_38736589	38735883	G G	GGGGCGGG others(98): Show GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCAGGGCGGGGCGGTGG TTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGG TTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18993.hp2 NA19010.hp2 others(3): Show NA18970.hp1 NA18993.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0267 a0001c0001t0003g0270 others(3): Show a0001c0001t0003g0260 a0001c0001t0003g0267 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0290	6	260	0.0231	105	c.64 others(116): Show c.6451_*6452insGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGC AGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGC GGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4295		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735883	G G	GGGGCGGG others(98): Show GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGTGG TTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGG TTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02071.hp1 HG02132.hp2 others(5): Show HG02040.hp2 HG02071.hp1 HG02132.hp2 HG02738.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0003g0258 others(5): Show a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0262 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0016g0300	8	262	0.0305	105	c.64 others(116): Show c.6451_*6452insGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGC GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGC GGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4295		chr19	TogoVar
ACYP2_chr2_53966113_54310300	54197935	A A	ATGTATTG others(98): Show ATGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTA TTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTA TTGTAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	235	0.0043	105	c.404 others(124): Show c.404+59193_404+59194insGTATTGTATTGTATTGTATTGTATTG TATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTG TATTGTATTGTATTGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54197942	A A	ATATTGTA others(98): Show ATATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATT GTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATT GTATTG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	98	0.0102	105	c.404 others(124): Show c.404+59288_404+59289insGTATTGTATTGTATTGTATTGTATTG TATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTG TATTGTATTGTATTGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS3_chr4_72275969_72574221	72400324	G G	GTGTATAT others(98): Show GTGTATATACACACGGTGTGTATATATACGTGTGCATAGATATACACACG GTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACG TGTGCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02523.hp1 HG02027.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0087 a0001c0001t0001g0088	2	155	0.0129	105	c.661 others(124): Show c.661+14490_661+14491insTGCACACGTATATATACACACCGTGT GTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGCACA CGTATATATACACACCGTGTGTATATACA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400327	T T	TATATACA others(98): Show TATATACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTG TGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGT GCATAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG03834.hp1 others(12): Show HG00140.hp2 HG00408.hp2 HG03834.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18995.hp1 NA18998.hp1 NA19007.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0153 others(12): Show a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0089 a0001c0001t0002g0150 a0001c0001t0002g0152 a0002c0002t0001g0165	15	47	0.3191	105	c.661 others(124): Show c.661+14487_661+14488insCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGC ACACGTATATATACACACCGTGTGTATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1327233	G G	GGCACAGC others(98): Show GGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCC CCACTGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCACAGCGC CTCACT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	82	0.0122	105	c.107 others(126): Show c.1077+35794_1077+35795insAGTGAGGCGCTGTGCCGTGGGGAG GCGCTGGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGG GGAGGCGCTGTGCCGTGGGGAGGCGCTGTGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1575976	A A	AGGGGGGC others(98): Show AGGGGGGCTCAGGGCCACGGGAGGGGGTTCAGGATCCATGGGAGGGGGCT CAGAGCCCCCTATCCAATAGGATAAGCCTATTGGAGGGGGTTCAAGGCCA CTGGAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0079 a0001c0001t0035g0079	1	56	0.0179	105	c.100 others(126): Show c.100+161074_100+161075insCTCCAGTGGCCTTGAACCCCCTCC AATAGGCTTATCCTATTGGATAGGGGGCTCTGAGCCCCCTCCCATGGATC CTGAACCCCCTCCCGTGGCCCTGAGCCCCCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1672735	G G	GCTCCTGC others(98): Show GCTCCTGCCTCCCTCCACGCACGCACTTCCCTTTCCTCCTTCCAGGCCCC CCGCCTGCCTCCTCCACGCACCGCAAGGCTCCTGCCTCCCTCCACGCATG GAAAGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18983.hp2 NA18984.hp2 others(3): Show HG03540.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA19011.hp1 NA20805.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0002c0004 a0007c0013 others(1): Show a0001c0001 a0002c0004 a0007c0013 a0009c0015	a0001c0001t0010 a0001c0001t0035 a0001c0001t0057 others(3): Show a0001c0001t0010 a0001c0001t0035 a0001c0001t0057 a0002c0004t0028 a0007c0013t0020 a0009c0015t0014	a0001c0001t0010g0013 a0001c0001t0035g0079 a0001c0001t0057g0103 others(3): Show a0001c0001t0010g0013 a0001c0001t0035g0079 a0001c0001t0057g0103 a0002c0004t0028g0020 a0007c0013t0020g0037 a0009c0015t0014g0008	6	86	0.0698	105	c.100 others(124): Show c.100+64315_100+64316insACTTTCCATGCGTGGAGGGAGGCAGG AGCCTTGCGGTGCGTGGAGGAGGCAGGCGGGGGGCCTGGAAGGAGGAAAG GGAAGTGCGTGCGTGGAGGGAGGCAGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113412849	G G	GCAGAACT others(98): Show GCAGAACTCGGTTCACCCACCGCCAACAGTACCCCACAGAACTCGGTTCA CCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGC ACCCCA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA20905.hp2 NA18999.hp1 NA20905.hp2	a0003 a0003	a0003c0015 a0003c0040 a0003c0015 a0003c0040	a0003c0015t0014 a0003c0040t0035 a0003c0015t0014 a0003c0040t0035	a0003c0015t0014g0102 a0003c0040t0035g0193 a0003c0015t0014g0102 a0003c0040t0035g0193	2	253	0.0079	105	c.106 others(124): Show c.1062-4630_1062-4629insTGGGGTGCTGTTGGCGGTGGGTGAAC CGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGTGGGGT ACTGTTGGCGGTGGGTGAACCGAGTTCTG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113412849	G G	GCAGAACT others(98): Show GCAGAACTCGGTTCACCCACCGCCAACAGTACCCCACAGAGCTCGGTTCA CCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGC ACCCCA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0014 a0003c0015t0014	a0003c0015t0014g0100 a0003c0015t0014g0100	1	252	0.0040	105	c.106 others(124): Show c.1062-4630_1062-4629insTGGGGTGCTGTTGGCGGTGGGTGAAC CGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGTGGGGT ACTGTTGGCGGTGGGTGAACCGAGTTCTG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADSS1_chr14_104719229_104752310	104720443	T T	TCTCGTGT others(98): Show TCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGC GTCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	382	0.0026	105	c.-38 others(116): Show c.-3828_-3827insCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGT CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTC	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3785		chr14	TogoVar
ADSS1_chr14_104719229_104752310	104720601	C C	CACGTCTG others(98): Show CACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTG CTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	62	0.0161	105	c.-36 others(116): Show c.-3670_-3669insACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTG GACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTGTGG	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3627		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104934036	C C	CGGCTGAG others(98): Show CGGCTGAGGGGACGGGGAGGGCGGGAGGCGACCCGGGGCTGAGGGGACGG GGAGGGCGGGAGGCGACCCGGGGCTGAGGGGACGGGGAGGGCGGGAGGCG ACCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0034 a0034	a0034c0031 a0034c0031	a0034c0031t0002 a0034c0031t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0034c0031t0002g0169 a0034c0031t0002g0188	2	177	0.0113	105	c.40 others(116): Show c.4026_*4027insCCGGGTCGCCTCCCGCCCTCCCCGTCCCCTCAGC CCCGGGTCGCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGGGTCGCCTCCC GCCCTCCCCGTCCCCTCAGCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3216		chr14	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(98): Show TATATATATATATATGTATGTATATATATATATATATATGTGTGTGTATA TATATGTATACATATATATATGTGTGTGTATATATATGTATATATATATA TATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0043 a0009c0011t0043	a0009c0011t0043g0132 a0009c0011t0043g0132	1	194	0.0052	105	c.416 others(126): Show c.4162-25661_4162-25660insATATATATATATATGTATGTATAT ATATATATATATATGTGTGTGTATATATATGTATACATATATATATGTGT GTGTATATATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(98): Show TATATATATATATGTATGTATATATATATATATATATATGTGTGTGTATA TATATGTATACATATATATATGTGTGTGTATATATATGTATATATATATA TATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0048 a0002c0001t0048	a0002c0001t0048g0161 a0002c0001t0048g0161	1	194	0.0052	105	c.416 others(126): Show c.4162-25661_4162-25660insATATATATATATGTATGTATATAT ATATATATATATATGTGTGTGTATATATATGTATACATATATATATGTGT GTGTATATATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(98): Show TATATATATGTATGTATATATATATATATATATATGTGTGTGTATATATA TGTATACATATATATATGTGTGTGTATATATATGTATATATATATATATA TATATA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0060 a0002c0001t0060	a0002c0001t0060g0055 a0002c0001t0060g0055	1	194	0.0052	105	c.416 others(126): Show c.4162-25661_4162-25660insATATATATGTATGTATATATATAT ATATATATATGTGTGTGTATATATATGTATACATATATATATGTGTGTGT ATATATATGTATATATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKR1D1_chr7_138071459_138123305	138091926	A A	AACCATGA others(98): Show AACCATGAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATA GCTATGTGCATGAAGCTCTGCACCATGAGCCAATAGCTATGTGCATGAAG CTCTGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02886.hp2 others(2): Show HG02109.hp1 HG02615.hp1 HG02886.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0030 a0001c0001t0031 a0001c0001t0013 a0001c0001t0030 a0001c0001t0031	a0001c0001t0013g0110 a0001c0001t0013g0348 a0001c0001t0013g0349 others(2): Show a0001c0001t0013g0110 a0001c0001t0013g0348 a0001c0001t0013g0349 a0001c0001t0030g0341 a0001c0001t0031g0118	5	366	0.0137	105	c.378 others(119): Show c.378+74_378+178dupCTGCACCATGAGCCAATAGCTATGTGCATGA AGCTCTGCACCATGAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGA GCCAATAGCTATGTGCATGAAGCT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138091932	G G	GAGCCAAT others(98): Show GAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATAGCTATG TGCATGAAGCTCTGCACCATGAGCCAATAGCTATGTGCATGAAGCTCTGC ACCATC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02809.hp1 others(2): Show HG02258.hp1 HG02615.hp2 HG02809.hp1 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0035 a0001c0001t0063 a0001c0001t0020 a0001c0001t0035 a0001c0001t0063	a0001c0001t0020g0304 a0001c0001t0020g0305 a0001c0001t0020g0306 others(2): Show a0001c0001t0020g0304 a0001c0001t0020g0305 a0001c0001t0020g0306 a0001c0001t0035g0207 a0001c0001t0063g0250	5	424	0.0118	105	c.378 others(120): Show c.378+152_378+153insCAGCCAATAGCTATGTGCATGAAGCTCTGC ACCATGAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATAG CTATGTGCATGAAGCTCTGCACCAT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138091967	G G	GAGCCAAT others(98): Show GAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATAGCTATG TGCATGAAGCTCTGCACCATCAGCCAATAGCTATGTGCATGAAGCTCTGC ACCATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0336 a0001c0001t0035g0336	1	424	0.0024	105	c.378 others(120): Show c.378+152_378+153insCAGCCAATAGCTATGTGCATGAAGCTCTGC ACCATCAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATAG CTATGTGCATGAAGCTCTGCACCAT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
ALLC_chr2_3653200_3707671	3690402	C C	CCCCTCCC others(98): Show CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0031 a0002c0013t0002g0031	1	245	0.0041	105	c.512 others(122): Show c.512-5312_512-5311insTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALX3_chr1_110054870_110075672	110062610	T T	TGTGTGTG others(98): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGTGCGCGCGCGCGCG CTGGGAGTCACAACAGAAGAAAGCTGTGTGTGTGTGTGTGTCACAACAGA AGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	419	0.0024	105	c.595 others(122): Show c.595-1048_595-1047insCTTTCTTCTGTTGTGACACACACACACA CACAGCTTTCTTCTGTTGTGACTCCCAGCGCGCGCGCGCGCACGCGCGCG CACACACACACACACACACACACACAC	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
AMPH_chr7_38378704_38636373	38441770	G G	GATATATA others(98): Show GATATATATCATATATCTATCATATATATGATATATATCATATATCTATC ATATATATCATATATCTGATATATATCATATATCTGATATATATCATATA TCTATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	256	0.0039	105	c.101 others(124): Show c.1018-5383_1018-5382insGATAGATATATGATATATATCAGATA TATGATATATATCAGATATATGATATATATGATAGATATATGATATATAT CATATATATGATAGATATATGATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
ANKRD24_chr19_4177689_4229814	4193846	A A	AGGGAGGG others(98): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18983.hp2 NA18955.hp2 NA18983.hp2	a0002 a0004 a0002 a0004	a0002c0031 a0004c0004 a0002c0031 a0004c0004	a0002c0031t0002 a0004c0004t0002 a0002c0031t0002 a0004c0004t0002	a0002c0031t0002g0280 a0004c0004t0002g0287 a0002c0031t0002g0280 a0004c0004t0002g0287	2	273	0.0073	105	c.37- others(120): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANO2_chr12_5557655_5950259	5902845	G G	GGGGAGGA others(98): Show GGGGAGGAGAGGGGAGGGGAGGGGAGGAGCGGGGAGGGGAGGAGAAGGGA GGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGA GGAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0001 a0010c0026t0001	a0010c0026t0001g0047 a0010c0026t0001g0047	1	159	0.0063	105	c.534 others(124): Show c.534+18194_534+18195insTTCTCCTCCCCTCCCCTCCCTTCTCC TCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCCC GCTCCTCCCCTCCCCTCCCCTCTCCTCCC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
APOB_chr2_20996429_21049073	21001236	T T	TTAATTAT others(98): Show TTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAAT TATAAAAATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAA AATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0216 a0005c0004t0001g0216	1	322	0.0031	105	c.49 others(114): Show c.493_*494insCATATTTTATAATTAAAATATTTATAATTAAATATT TTATAATTAAAATTTTTATAATTAAAATATTTATAATTAAATATTTTATA ATTAAAATATTTATAATTA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		192		chr2	TogoVar
ARFRP1_chr20_63693647_63712976	63693651	T T	TCCACCAC others(98): Show TCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCTCCAC CACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCA CCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	202	0.0050	105	c.67 others(116): Show c.6791_*6792insTGGAGGTGGAGGTGGTGGTGGTGGTGGAGGTGGA GGTGGTGGTGCAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4995		chr20	TogoVar
ARHGAP35_chr19_46855997_47010077	46879587	A A	AAAATAAA others(98): Show AAAATAAATAAATAAATAAAGGTTGCAGTGAGCCAAGATCGCGCCACTGC ACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAATAAATAA ATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(19): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00642.hp2 HG01257.hp1 HG01928.hp1 HG02027.hp1 HG02056.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG04204.hp2 NA18906.hp2 NA18953.hp2 NA18962.hp1 NA18971.hp1 NA18982.hp2 NA18994.hp1 NA19007.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0004 a0001c0001 a0001c0009 a0002c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0040 a0001c0009t0006 a0002c0004t0002	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 others(19): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0006g0035 a0001c0001t0006g0052 a0001c0001t0006g0230 a0001c0001t0012g0047 a0001c0001t0012g0049 a0001c0001t0012g0223 a0001c0001t0015g0040 a0001c0001t0040g0053 a0001c0009t0006g0228 a0002c0004t0002g0008	22	110	0.2000	105	c.-18 others(126): Show c.-189+18397_-189+18398insGGTTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAAT AAATAAATAAATAAATAAATAAATAAATAAA	ARHGAP35	ENSG00000160007.20	transcript	ENST00000672722.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144687049	C C	CCCCGTGA others(98): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTCA TTTACAGCGAGCACTTCCCACCCCCGTGACCACTCATTTACAGCGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	229	0.0044	105	c.-14 others(116): Show c.-1446_-1445insTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG GGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1204		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCCGTG others(98): Show CCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	223	0.0045	105	c.-15 others(116): Show c.-1517_-1516insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCAC TGCTAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687153	C C	CCACCCCG others(98): Show CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCTCACCCCGTGACCACACACTAGCGGTGAGC ACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	220	0.0045	105	c.-15 others(116): Show c.-1550_-1549insAGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGT GAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1308		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCGTGA others(98): Show CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGCGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0194 a0004c0013t0002g0194	1	226	0.0044	105	c.-15 others(116): Show c.-1553_-1552insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACAGG GGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCG CCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(98): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCAGTGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	211	0.0047	105	c.-15 others(116): Show c.-1589_-1588insTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCG CTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687476	C C	CCCCGTGA others(98): Show CCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGACCATTTCCCACCCCGTGACCACGCACTGGCGGTGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	233	0.0043	105	c.-18 others(116): Show c.-1873_-1872insTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGG GTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CTGTAAATGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1631		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687639	T T	TGAGCACT others(98): Show TGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACC CCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACT GGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	225	0.0044	105	c.-20 others(116): Show c.-2036_-2035insGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1794		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCCGTG others(98): Show CCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	191	0.0052	105	c.-20 others(116): Show c.-2049_-2048insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687700	A A	ACACTGGC others(98): Show ACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGC ACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTG ACCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0016 a0001c0007t0001g0016	1	240	0.0042	105	c.-20 others(116): Show c.-2097_-2096insCGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGT GGGAAGTGCTCGCCGCCAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1855		chr8	TogoVar
ARHGAP6_chrX_11132544_11670920	11590862	A A	AGAAGAGA others(98): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAAAAGAAAAGAAAAGAAAAGAAGGAAAGAA GGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	68	0.0147	105	c.588 others(124): Show c.588+73378_588+73379insCTTTCCTTCTTTCCTTCTTTTCTTTT CTTTTCTTTTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCTTCTCTTC	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGEF38_chr4_105547620_105685914	105561459	A A	AGAATGGA others(98): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0139 a0002c0003t0010g0139	1	115	0.0087	105	c.196 others(122): Show c.196+8502_196+8503insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561474	A A	AGAATGGA others(98): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATGGAATGGAAT GGAATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0003 a0004c0011t0002g0004 a0004c0011t0002g0003 a0004c0011t0002g0004	2	140	0.0143	105	c.196 others(122): Show c.196+8517_196+8518insGGAATGGAATGGAATGGAATGGAATGGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATGGAATGGAATGGAATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARL13B_chr3_93975155_94060678	94043554	C C	CCCCCTCC others(98): Show CCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02083.hp2 HG00423.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0167 a0001c0001t0001g0068 a0001c0001t0001g0167	2	259	0.0077	105	c.102 others(122): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARVCF_chr22_19964896_20021823	20020180	A A	AAGAAAAA others(98): Show AAGAAAAAAAAAAAAAAAAAGGGGGGGAAGAAAAAAAAAAGAAAAAAAAA AAGAAAAAAAAAAGAAGAAAAAGAAAAAAATAAAAAAAAAATAAAAAAGG GGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0006 a0003c0017t0006	a0003c0017t0006g0242 a0003c0017t0006g0242	1	372	0.0027	105	c.-36 others(116): Show c.-3665_-3664insCCCCCCCCTTTTTTATTTTTTTTTTATTTTTTTC TTTTTCTTCTTTTTTTTTTCTTTTTTTTTTTCTTTTTTTTTTCTTCCCCC CCTTTTTTTTTTTTTTTTTCT	ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding		3358		chr22	TogoVar
ASAP1_chr8_130047104_130448674	130049702	T T	TGGGGGGC others(98): Show TGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGC AGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAA TACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	253	0.0040	105	c.50 others(116): Show c.5028_*5029insCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2401		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049794	A A	AGGAGAAC others(98): Show AGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	280	0.0036	105	c.49 others(116): Show c.4936_*4937insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCC TCTGCCCCCCATGTGTTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2309		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049890	G G	GAGGGCAG others(98): Show GAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAG AGGAGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAAC ACATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	294	0.0034	105	c.48 others(116): Show c.4840_*4841insCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCC TCTGCCCTCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCT CCATGTGTTCCCCTCTGCCCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2213		chr8	TogoVar
ASMTL_chrX_1398139_1457909	1408439	G G	GCAGGAGG others(98): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGC CAAATGCTGGTACTCCCACATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0005 a0001c0037t0001g0005	1	168	0.0060	105	c.164 others(124): Show c.1645+4292_1645+4293insGGCTCAAGCGATCCTCCTGCCTCAGC CTCCCGAGTATGTGGGAGTACCAGCATTTGGCTGGAGTGCAGTGTTGCCA TCATAGTTCACTGCAGCCTTGACCTCCTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408902	C C	CTCCAGCC others(98): Show CTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAG GATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACA CTGCAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0101 a0001c0035t0001g0101	1	179	0.0056	105	c.164 others(124): Show c.1645+3829_1645+3830insCTGCAGTGTTGCCATCATAGTTCACT GCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGA GTATTTGGGAGTACCAGCATTTGGCTGGA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1409426	A A	ACTCCAGC others(98): Show ACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAAC ACTGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0005 a0001c0037t0001g0005	1	178	0.0056	105	c.164 others(124): Show c.1645+3305_1645+3306insGGCAGTGTTGCCATCATAGTTCACTG CAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAG TATTTGGGAGTACCAGCATTTGGCTGGAG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar

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