Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ATP6V1C2_chr2_10716630_10790110	10719622	TTTTGGTT others(3): Show TTTTGGTTTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG01175.hp1 others(41): Show HG00140.hp2 HG01099.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03239.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG04204.hp2 NA18906.hp1 NA18955.hp2 NA18970.hp2 NA18978.hp2 NA18979.hp2 NA18989.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 others(3): Show a0001c0001 a0001c0015 a0002c0002 a0002c0003 a0002c0004 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0015t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 a0002c0004t0005 a0002c0013t0001	a0001c0001t0001g0113 a0001c0001t0001g0210 a0001c0001t0001g0211 others(41): Show a0001c0001t0001g0113 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0002g0118 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0218 a0001c0001t0002g0257 a0001c0001t0004g0097 a0001c0001t0004g0114 a0001c0001t0008g0245 a0001c0015t0006g0247 a0002c0002t0001g0096 a0002c0002t0001g0115 a0002c0002t0001g0130 a0002c0002t0001g0135 a0002c0002t0001g0140 a0002c0002t0002g0124 a0002c0002t0003g0246 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0258 a0002c0002t0004g0117 a0002c0002t0015g0221 a0002c0003t0002g0119 a0002c0003t0002g0126 a0002c0003t0002g0127 a0002c0003t0002g0129 a0002c0003t0002g0142 a0002c0003t0004g0138 a0002c0003t0012g0160 a0002c0004t0005g0137 a0002c0004t0005g0141 a0002c0004t0005g0143 a0002c0004t0005g0162 a0002c0013t0001g0136	44	211	0.2085	-10	c.-21 others(21): Show c.-2135_-2126delTTTGGTTTGG	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding		2007		chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10754542	ATTTTCTT others(3): Show ATTTTCTTTTC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01192.hp2 others(3): Show HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01243.hp1 HG01884.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0007 a0001c0001t0002 a0002c0002t0001 a0002c0002t0007	a0001c0001t0002g0269 a0001c0001t0002g0283 a0002c0002t0001g0284 others(3): Show a0001c0001t0002g0269 a0001c0001t0002g0283 a0002c0002t0001g0284 a0002c0002t0001g0295 a0002c0002t0007g0106 a0002c0002t0007g0223	6	13	0.4615	-10	c.283 others(25): Show c.283+511_283+520delCTTTTCTTTT	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10777953	CTGGCTGG others(3): Show CTGGCTGGAGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03486.hp1 HG03516.hp1 others(1): Show HG03041.hp2 HG03486.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0006 a0001c0015t0006 a0001c0001t0006 a0001c0015t0006	a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0104 others(1): Show a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0104 a0001c0015t0006g0247	4	352	0.0114	-10	c.963 others(25): Show c.963+241_963+250delGTGGCTGGAG	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10782829	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01071.hp2 others(32): Show HG00140.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG02040.hp2 HG02132.hp1 HG02293.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19060.hp1 NA19063.hp1 NA19085.hp1 NA19085.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0002c0004 a0002c0007 a0004c0011 a0007c0014	a0001c0001t0002 a0001c0006t0005 a0002c0002t0002 others(4): Show a0001c0001t0002 a0001c0006t0005 a0002c0002t0002 a0002c0004t0005 a0002c0007t0009 a0004c0011t0017 a0007c0014t0021	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0118 others(32): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0118 a0001c0001t0002g0206 a0001c0001t0002g0278 a0001c0001t0002g0290 a0001c0001t0002g0316 a0001c0006t0005g0038 a0001c0006t0005g0321 a0001c0006t0005g0323 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0026 a0002c0002t0002g0044 a0002c0002t0002g0124 a0002c0002t0002g0133 a0002c0002t0002g0172 a0002c0002t0002g0280 a0002c0002t0002g0306 a0002c0002t0002g0334 a0002c0002t0002g0337 a0002c0002t0002g0344 a0002c0002t0002g0351 a0002c0004t0005g0045 a0002c0004t0005g0046 a0002c0004t0005g0109 a0002c0004t0005g0137 a0002c0004t0005g0143 a0002c0004t0005g0162 a0002c0004t0005g0177 a0002c0004t0005g0286 a0002c0004t0005g0311 a0002c0007t0009g0041 a0004c0011t0017g0149 a0007c0014t0021g0179	35	72	0.4861	-10	c.119 others(27): Show c.1195-320_1195-311delAAAAAAAAAA	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1D_chr14_67332872_67364804	67355449	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp2 NA18944.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0108 a0001c0001t0001g0109	2	43	0.0465	-10	c.42- others(25): Show c.42-2419_42-2410delTTTTTTTTTT	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	1/8			chr14	TogoVar
ATP6V1E1_chr22_17587136_17633749	17609464	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00738.hp1 others(14): Show HG00323.hp2 HG00639.hp1 HG00738.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03579.hp2 HG03688.hp2 NA19030.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0052 a0001c0001t0001g0139 a0001c0001t0001g0140 others(14): Show a0001c0001t0001g0052 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0003g0242 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316	17	227	0.0749	-10	c.276 others(27): Show c.276+3338_276+3347delAAAAAAAAAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	4/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17629818	TACACACA others(3): Show TACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	156	0.0064	-10	c.-11 others(21): Show c.-1193_-1184delGTGTGTGTGT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		1070		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631658	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 NA18906.hp2 HG02965.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0223 a0001c0002t0009g0224 a0001c0002t0009g0223 a0001c0002t0009g0224	2	271	0.0074	-10	c.-30 others(21): Show c.-3033_-3024delCACACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2910		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631662	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02647.hp2 HG02970.hp1 others(1): Show HG02602.hp1 HG02647.hp2 HG02970.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0238 a0001c0001t0002g0265 a0001c0001t0002g0274 others(1): Show a0001c0001t0002g0238 a0001c0001t0002g0265 a0001c0001t0002g0274 a0001c0001t0003g0241	4	338	0.0118	-10	c.-30 others(21): Show c.-3037_-3028delTACACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2914		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631664	GTGTGTGT others(3): Show GTGTGTGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	322	0.0031	-10	c.-30 others(21): Show c.-3039_-3030delTATACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2916		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631698	ATATATAT others(3): Show ATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	351	0.0028	-10	c.-30 others(21): Show c.-3073_-3064delAATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2950		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631704	ATATTTTT others(3): Show ATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	352	0.0028	-10	c.-30 others(21): Show c.-3079_-3070delAAAAAAAATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2956		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG03579.hp2 HG02922.hp1 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0198 a0001c0001t0003g0312 a0001c0001t0003g0314	3	187	0.0160	-10	c.-30 others(21): Show c.-3081_-3072delAAAAAAAAAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46510479	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 NA19043.hp2 HG02818.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0274 a0001c0001t0003g0161 a0001c0001t0002g0274 a0001c0001t0003g0161	2	408	0.0049	-10	c.15 others(21): Show c.1542_*1551delCTTTTTTTTT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		1367		chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp1 HG02129.hp2 others(7): Show HG01361.hp1 HG02056.hp1 HG02129.hp2 HG03942.hp1 HG04228.hp2 NA18975.hp2 NA19005.hp2 NA19059.hp1 NA19080.hp2 NA19089.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0005c0007t0002	a0001c0001t0002g0039 a0001c0001t0002g0192 a0001c0001t0002g0230 others(6): Show a0001c0001t0002g0039 a0001c0001t0002g0192 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0250 a0001c0001t0003g0012 a0001c0001t0003g0134 a0001c0001t0011g0258 a0005c0007t0002g0232	10	52	0.1923	-10	c.-10 others(29): Show c.-101-5688_-101-5679delGTGTGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546466	ATATATAT others(3): Show ATATATATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 NA18946.hp1 HG00639.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0074 a0001c0001t0004g0185 a0001c0001t0001g0074 a0001c0001t0004g0185	2	408	0.0049	-10	c.-46 others(21): Show c.-4633_-4624delCACATATATA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3890		chr2	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128861347	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	280	0.0036	-10	c.-50 others(21): Show c.-5062_-5053delTTTTTTTTTT	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding		4982		chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128861823	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	162	0.0062	-10	c.-45 others(21): Show c.-4586_-4577delTTTTTTTTTT	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding		4506		chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128869924	AGAGCCCC others(3): Show AGAGCCCCGAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00609.hp1 others(93): Show HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19059.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19086.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0011 a0001c0001 a0002c0002 a0007c0011	a0001c0001t0002 a0001c0001t0031 a0001c0001t0032 others(4): Show a0001c0001t0002 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0002c0002t0002 a0007c0011t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0015 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0031g0002 a0001c0001t0032g0002 a0001c0001t0033g0002 a0001c0001t0034g0024 a0002c0002t0002g0002 a0007c0011t0002g0002	96	440	0.2182	-10	c.11 others(21): Show c.1157_*1166delGAGGAGCCCC	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	2/2	1157	INFO_REALIGN_3_PRIME	chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128861823	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	157	0.0064	-10	c.-10 others(21): Show c.-1081_-1072delTTTTTTTTTT	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		1032		chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128869924	AGAGCCCC others(3): Show AGAGCCCCGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(94): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp1 HG03942.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18976.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0001c0001t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0002c0003t0001g0007 a0003c0004t0001g0002	97	440	0.2205	-10	c.43 others(21): Show c.4347_*4356delGAGCCCCGAG	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		4078		chr7	TogoVar
ATP6V1G1_chr9_114582769_114603879	114588510	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp1 HG03225.hp1 HG02630.hp2 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0173 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0008g0173 a0001c0001t0008g0174 a0001c0001t0008g0175	3	46	0.0652	-10	c.82+ others(23): Show c.82+611_82+620delGTGTGTGTGT	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01517.hp1 HG02895.hp1 others(3): Show HG01433.hp2 HG01517.hp1 HG02895.hp1 NA19060.hp2 NA19086.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0083 a0001c0001t0001g0171 a0001c0001t0001g0180 others(3): Show a0001c0001t0001g0083 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0208 a0001c0001t0001g0235 a0001c0001t0002g0257	6	187	0.0321	-10	c.127 others(27): Show c.1277+860_1277+869delATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755736	ATATATAT others(3): Show ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	279	0.0036	-10	c.127 others(27): Show c.1277+809_1277+818delAATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819547	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02615.hp2 others(10): Show HG02055.hp1 HG02559.hp2 HG02615.hp2 HG02809.hp2 HG02922.hp2 HG03041.hp2 HG03225.hp2 HG03471.hp1 NA18906.hp1 NA19030.hp1 NA19086.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(10): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0278 a0001c0001t0002g0018 a0001c0001t0002g0107 a0001c0001t0002g0254 a0001c0001t0002g0259	13	126	0.1032	-10	c.307 others(27): Show c.307-2027_307-2018delATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	78017765	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp1 HG01515.hp1 others(1): Show HG01074.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 others(1): Show a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028	4	118	0.0339	-10	c.262 others(29): Show c.2626+1904_2626+1913delTTTTTTTTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	12/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP8A1_chr4_42403373_42662105	42448828	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0302 a0001c0001t0012g0302	1	10	0.1000	-10	c.289 others(29): Show c.2897-2194_2897-2185delAAAAAAAAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42461244	CTTTCTTT others(3): Show CTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0009 a0001c0003t0003 a0001c0003t0009	a0001c0003t0003g0292 a0001c0003t0009g0287 a0001c0003t0003g0292 a0001c0003t0009g0287	2	222	0.0090	-10	c.261 others(29): Show c.2619+3436_2619+3445delAAAAAAGAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	27/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42500365	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01069.hp2 others(43): Show HG00408.hp2 HG00423.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA19030.hp1 NA19086.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0003t0008 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0002c0005t0019 a0002c0005t0034 a0005c0010t0014	a0001c0001t0001g0112 a0001c0001t0001g0177 a0001c0001t0001g0178 others(43): Show a0001c0001t0001g0112 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0004g0043 a0001c0001t0008g0065 a0001c0001t0008g0117 a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0021g0187 a0001c0002t0002g0155 a0001c0002t0004g0013 a0001c0002t0004g0016 a0001c0002t0004g0029 a0001c0002t0004g0077 a0001c0002t0007g0092 a0001c0002t0007g0094 a0001c0002t0010g0225 a0001c0002t0010g0260 a0001c0002t0013g0095 a0001c0002t0013g0097 a0001c0002t0014g0195 a0001c0002t0014g0278 a0001c0003t0008g0144 a0001c0004t0003g0296 a0001c0004t0004g0099 a0001c0004t0004g0110 a0001c0004t0004g0132 a0001c0004t0004g0139 a0001c0004t0005g0306 a0001c0004t0010g0184 a0001c0004t0010g0283 a0001c0004t0010g0285 a0001c0004t0010g0286 a0001c0004t0010g0295 a0001c0004t0010g0297 a0001c0004t0010g0299 a0002c0005t0019g0137 a0002c0005t0019g0138 a0002c0005t0034g0305 a0005c0010t0014g0276	46	190	0.2421	-10	c.215 others(29): Show c.2151+3075_2151+3084delGTTTTGTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	24/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636148	ACACACAC others(3): Show ACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0034 a0002c0005t0019 a0002c0005t0034	a0002c0005t0019g0137 a0002c0005t0034g0305 a0002c0005t0019g0137 a0002c0005t0034g0305	2	290	0.0069	-10	c.50- others(25): Show c.50-9049_50-9040delCGTGTGTGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25414186	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0052 a0001c0002t0029g0052	1	61	0.0164	-10	c.76+ others(27): Show c.76+41911_76+41920delTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25507255	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18522.hp2 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0070 a0001c0002t0001 a0001c0002t0070	a0001c0002t0001g0069 a0001c0002t0070g0068 a0001c0002t0001g0069 a0001c0002t0070g0068	2	120	0.0167	-10	c.222 others(29): Show c.222-22742_222-22733delGTGTGTGTAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25510174	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0019 a0001c0020t0019	a0001c0020t0019g0067 a0001c0020t0019g0067	1	70	0.0143	-10	c.222 others(29): Show c.222-19787_222-19778delCACACACACA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25510212	CACACACA others(3): Show CACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01070.hp1 others(8): Show HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG02615.hp2 HG02630.hp1 HG03041.hp2 HG03225.hp1 HG03490.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0017	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0003t0073 a0001c0004t0005 a0001c0004t0049 a0001c0006t0043 a0001c0017t0036	a0001c0001t0001g0036 a0001c0001t0011g0061 a0001c0001t0011g0062 others(8): Show a0001c0001t0001g0036 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0006 a0001c0001t0015g0082 a0001c0003t0073g0001 a0001c0004t0005g0088 a0001c0004t0049g0086 a0001c0006t0043g0095 a0001c0017t0036g0019	11	120	0.0917	-10	c.222 others(29): Show c.222-19785_222-19776delCACACACAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531447	ATATATAT others(3): Show ATATATATGAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01071.hp1 others(10): Show HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01243.hp1 HG01496.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02886.hp1 HG03130.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 others(2): Show a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0017	a0001c0002t0001 a0001c0004t0002 a0001c0004t0003 others(9): Show a0001c0002t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0022 a0001c0004t0049 a0001c0004t0068 a0001c0006t0043 a0001c0007t0001 a0001c0007t0005 a0001c0017t0036	a0001c0002t0001g0039 a0001c0004t0002g0049 a0001c0004t0002g0080 others(10): Show a0001c0002t0001g0039 a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 a0001c0004t0004g0048 a0001c0004t0005g0088 a0001c0004t0022g0054 a0001c0004t0049g0086 a0001c0004t0068g0071 a0001c0006t0043g0095 a0001c0007t0001g0081 a0001c0007t0005g0021 a0001c0017t0036g0019	13	120	0.1083	-10	c.420 others(25): Show c.420+795_420+804delGATTATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25657052	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02015.hp1 HG02273.hp1 others(6): Show HG00741.hp1 HG02015.hp1 HG02273.hp1 HG02647.hp1 HG03540.hp2 NA18952.hp1 NA18977.hp1 NA18986.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 a0001c0001 a0001c0003 a0001c0016	a0001c0001t0011 a0001c0001t0059 a0001c0003t0001 others(6): Show a0001c0001t0011 a0001c0001t0059 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0014 a0001c0003t0065 a0001c0016t0045	a0001c0001t0011g0061 a0001c0001t0059g0022 a0001c0003t0001g0106 others(6): Show a0001c0001t0011g0061 a0001c0001t0059g0022 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0003t0014g0111 a0001c0003t0065g0033 a0001c0016t0045g0105	9	19	0.4737	-10	c.221 others(31): Show c.2212-42101_2212-42092delAAAAAAAAAA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25701723	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03041.hp1 HG03098.hp2 others(2): Show HG01496.hp1 HG03041.hp1 HG03098.hp2 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 others(1): Show a0001c0001 a0001c0005 a0001c0010 a0001c0011	a0001c0001t0046 a0001c0005t0044 a0001c0010t0012 others(2): Show a0001c0001t0046 a0001c0005t0044 a0001c0010t0012 a0001c0010t0056 a0001c0011t0017	a0001c0001t0046g0045 a0001c0005t0044g0018 a0001c0010t0012g0090 others(2): Show a0001c0001t0046g0045 a0001c0005t0044g0018 a0001c0010t0012g0090 a0001c0010t0056g0002 a0001c0011t0017g0121	5	26	0.1923	-10	c.238 others(29): Show c.2384+2413_2384+2422delACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25791532	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0013 a0001c0002t0023g0013	1	120	0.0083	-10	c.267 others(31): Show c.2679+16583_2679+16592delTACACACACA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25793015	AGAGAAGA others(3): Show AGAGAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01081.hp1 others(13): Show HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG02698.hp1 HG03195.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp1 NA18522.hp1 NA18977.hp1 NA18986.hp2 NA19004.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0016 a0001c0019	a0001c0001t0004 a0001c0001t0024 a0001c0001t0040 others(12): Show a0001c0001t0004 a0001c0001t0024 a0001c0001t0040 a0001c0001t0054 a0001c0002t0001 a0001c0002t0003 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0018 a0001c0004t0005 a0001c0012t0002 a0001c0016t0045 a0001c0019t0007	a0001c0001t0004g0046 a0001c0001t0024g0004 a0001c0001t0040g0038 others(13): Show a0001c0001t0004g0046 a0001c0001t0024g0004 a0001c0001t0040g0038 a0001c0001t0054g0103 a0001c0002t0001g0069 a0001c0002t0001g0083 a0001c0002t0003g0087 a0001c0002t0020g0097 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0009g0107 a0001c0003t0018g0057 a0001c0004t0005g0088 a0001c0012t0002g0110 a0001c0016t0045g0105 a0001c0019t0007g0028	16	120	0.1333	-10	c.267 others(31): Show c.2679+18076_2679+18085delGGAGAAGAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25794820	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp2 HG02886.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0064 a0001c0002t0070 a0001c0001t0064 a0001c0002t0070	a0001c0001t0064g0072 a0001c0002t0070g0068 a0001c0001t0064g0072 a0001c0002t0070g0068	2	19	0.1053	-10	c.267 others(31): Show c.2679+19892_2679+19901delACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25813382	TATATGAT others(3): Show TATATGATATG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01243.hp1 others(6): Show HG00642.hp2 HG01074.hp2 HG01243.hp1 HG02622.hp1 HG02965.hp2 HG02976.hp1 HG03540.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0016	a0001c0001t0008 a0001c0001t0053 a0001c0001t0066 others(6): Show a0001c0001t0008 a0001c0001t0053 a0001c0001t0066 a0001c0002t0006 a0001c0002t0016 a0001c0002t0058 a0001c0004t0003 a0001c0004t0068 a0001c0016t0045	a0001c0001t0008g0073 a0001c0001t0053g0114 a0001c0001t0066g0092 others(6): Show a0001c0001t0008g0073 a0001c0001t0053g0114 a0001c0001t0066g0092 a0001c0002t0006g0119 a0001c0002t0016g0011 a0001c0002t0058g0101 a0001c0004t0003g0007 a0001c0004t0068g0071 a0001c0016t0045g0105	9	45	0.2000	-10	c.268 others(31): Show c.2680-14706_2680-14697delGATATGATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25825145	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0097 a0001c0002t0020g0097	1	35	0.0286	-10	c.268 others(29): Show c.2680-2953_2680-2944delTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02559.hp2 HG02055.hp2 HG02280.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0020 a0001c0001 a0001c0009 a0001c0020	a0001c0001t0003 a0001c0009t0037 a0001c0020t0019 a0001c0001t0003 a0001c0009t0037 a0001c0020t0019	a0001c0001t0003g0093 a0001c0009t0037g0008 a0001c0020t0019g0067 a0001c0001t0003g0093 a0001c0009t0037g0008 a0001c0020t0019g0067	3	13	0.2308	-10	c.275 others(29): Show c.2754+1520_2754+1529delATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25837423	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03195.hp2 HG03453.hp2 others(1): Show HG01358.hp2 HG03195.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0030 a0001c0002t0028 others(1): Show a0001c0001t0002 a0001c0001t0030 a0001c0002t0028 a0001c0005t0023	a0001c0001t0002g0079 a0001c0001t0030g0091 a0001c0002t0028g0014 others(1): Show a0001c0001t0002g0079 a0001c0001t0030g0091 a0001c0002t0028g0014 a0001c0005t0023g0003	4	15	0.2667	-10	c.287 others(27): Show c.2877+176_2877+185delACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25853392	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02258.hp1 others(16): Show HG01069.hp1 HG01071.hp1 HG02258.hp1 HG02273.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG06807.hp1 NA18522.hp1 NA18977.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0018	a0001c0001t0010 a0001c0001t0066 a0001c0001t0072 others(16): Show a0001c0001t0010 a0001c0001t0066 a0001c0001t0072 a0001c0002t0001 a0001c0002t0003 a0001c0002t0021 a0001c0002t0029 a0001c0002t0032 a0001c0003t0006 a0001c0003t0069 a0001c0004t0002 a0001c0004t0004 a0001c0007t0001 a0001c0007t0007 a0001c0008t0033 a0001c0009t0038 a0001c0010t0012 a0001c0010t0056 a0001c0018t0024	a0001c0001t0010g0100 a0001c0001t0066g0092 a0001c0001t0072g0027 others(16): Show a0001c0001t0010g0100 a0001c0001t0066g0092 a0001c0001t0072g0027 a0001c0002t0001g0069 a0001c0002t0003g0087 a0001c0002t0021g0017 a0001c0002t0029g0052 a0001c0002t0032g0023 a0001c0003t0006g0078 a0001c0003t0069g0012 a0001c0004t0002g0049 a0001c0004t0004g0048 a0001c0007t0001g0081 a0001c0007t0007g0094 a0001c0008t0033g0075 a0001c0009t0038g0112 a0001c0010t0012g0090 a0001c0010t0056g0002 a0001c0018t0024g0066	19	112	0.1696	-10	c.295 others(29): Show c.2957-6801_2957-6792delAAAATATATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	30/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25912187	CACACACA others(3): Show CACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02647.hp2 others(9): Show HG02055.hp2 HG02559.hp1 HG02647.hp2 HG02896.hp2 HG03041.hp2 HG03139.hp1 HG03453.hp1 NA18952.hp2 NA18977.hp1 NA18986.hp2 NA19004.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0014 a0001c0015	a0001c0001t0003 a0001c0001t0013 a0001c0001t0048 others(9): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0048 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0014 a0001c0003t0027 a0001c0006t0006 a0001c0008t0013 a0001c0014t0034 a0001c0015t0008	a0001c0001t0003g0093 a0001c0001t0013g0006 a0001c0001t0048g0122 others(9): Show a0001c0001t0003g0093 a0001c0001t0013g0006 a0001c0001t0048g0122 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0009g0107 a0001c0003t0014g0084 a0001c0003t0027g0047 a0001c0006t0006g0098 a0001c0008t0013g0074 a0001c0014t0034g0064 a0001c0015t0008g0015	12	120	0.1000	-10	c.318 others(31): Show c.3184-49387_3184-49378delACACACACAG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36			chr13	TogoVar
ATP8A2_chr13_25366974_26030851	26002848	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0099 a0001c0002t0039g0099	1	21	0.0476	-10	c.337 others(29): Show c.3378-9645_3378-9636delGTGTGTGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	35/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57645587	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0045 a0001c0005t0045	a0001c0005t0045g0278 a0001c0005t0045g0278	1	156	0.0064	-10	c.28 others(21): Show c.2891_*2900delAAAAAAAAAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		838		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57653682	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0074 a0001c0001t0006g0074	1	158	0.0063	-10	c.301 others(27): Show c.3015+300_3015+309delAAAAAAAAAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	24/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672886	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19005.hp2 NA18945.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0263 a0001c0001t0008g0033 a0001c0001t0007g0263 a0001c0001t0008g0033	2	168	0.0119	-10	c.182 others(29): Show c.1820-1316_1820-1307delTATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar

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