Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(9): Show ATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	370	0.0027	16	c.-30 others(27): Show c.-3072_-3071insAAAAAATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46513198	C C	CAGGATTT others(9): Show CAGGATTTAATCCAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00544.hp2 others(107): Show HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01109.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03486.hp2 HG03491.hp2 HG03704.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18960.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19059.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0005 a0003c0004 others(2): Show a0001c0001 a0001c0005 a0003c0004 a0005c0009 a0006c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0005t0001 a0003c0004t0005 a0005c0009t0001 a0006c0006t0007	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0005g0029 a0001c0001t0005g0095 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0132 a0001c0001t0005g0136 a0001c0001t0005g0160 a0001c0001t0005g0163 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0007g0111 a0001c0001t0007g0120 a0001c0001t0008g0043 a0001c0005t0001g0270 a0003c0004t0005g0133 a0003c0004t0005g0143 a0005c0009t0001g0218 a0006c0006t0007g0296	110	410	0.2683	16	c.-10 others(33): Show c.-101-387_-101-386insTTCTGGATTAAATCCT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00738.hp1 others(11): Show HG00323.hp1 HG00639.hp1 HG00738.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01975.hp1 HG01993.hp2 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02738.hp2 HG03490.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(11): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0005g0125 a0001c0001t0005g0172	14	410	0.0342	16	c.-10 others(35): Show c.-101-5694_-101-5679dupGTGTGTGTGTGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	410	0.0024	16	c.-10 others(35): Show c.-101-5962_-101-5947dupCACACACACACACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1G3_chr1_198518222_198545680	198538891	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG03471.hp2 HG01109.hp2 HG02258.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0093 a0001c0001t0002g0043 a0001c0001t0002g0093	3	405	0.0074	16	c.82+ others(31): Show c.82+1677_82+1678insTTTTTTTTTTTTTTTT	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP7A_chrX_77905693_78055395	77956726	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18951.hp2 NA19058.hp1 HG03831.hp2 NA18951.hp2 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0168 a0001c0001t0001g0170 a0002c0002t0003g0222 a0001c0001t0001g0168 a0001c0001t0001g0170 a0002c0002t0003g0222	3	233	0.0129	16	c.-21 others(35): Show c.-21-14848_-21-14833dupTTCTTTCTTTCTTTCT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00741.hp1 others(5): Show HG00423.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01943.hp2 HG02055.hp2 HG02896.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0012 a0005c0026 a0002c0002 a0005c0012 a0005c0026	a0002c0002t0002 a0002c0002t0023 a0005c0012t0003 others(1): Show a0002c0002t0002 a0002c0002t0023 a0005c0012t0003 a0005c0026t0004	a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0087 others(5): Show a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0087 a0002c0002t0002g0110 a0002c0002t0002g0116 a0002c0002t0023g0086 a0005c0012t0003g0128 a0005c0026t0004g0120	8	302	0.0265	16	c.244 others(35): Show c.2448-3468_2448-3453dupTTTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0247	1	310	0.0032	16	c.295 others(33): Show c.2958+487_2958+502dupTTTTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448392	C C	CTTACTTT others(9): Show CTTACTTTACTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG02922.hp2 others(3): Show HG02451.hp1 HG02717.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0002 a0001c0003t0003	a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 others(3): Show a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0003t0002g0180 a0001c0003t0003g0293 a0001c0003t0003g0296	6	310	0.0194	16	c.289 others(35): Show c.2897-1749_2897-1748insAAAAAAAGTAAAGTAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448396	C C	CTTTACTT others(9): Show CTTTACTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(75): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01952.hp2 HG02071.hp1 HG02074.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA18952.hp2 NA18963.hp1 NA18970.hp2 NA18980.hp1 NA18981.hp2 NA18988.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19070.hp2 NA19077.hp2 NA19084.hp2 NA19085.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0021 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0002t0009 a0001c0002t0016 a0001c0002t0023 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0004t0003 a0001c0004t0004 a0001c0004t0010	a0001c0001t0001g0112 a0001c0001t0002g0044 a0001c0001t0002g0051 others(75): Show a0001c0001t0001g0112 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0075 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0215 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0006g0251 a0001c0001t0008g0064 a0001c0001t0008g0084 a0001c0001t0008g0120 a0001c0001t0008g0137 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0214 a0001c0001t0009g0216 a0001c0001t0009g0224 a0001c0001t0011g0002 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0017g0080 a0001c0001t0021g0187 a0001c0001t0032g0279 a0001c0001t0033g0304 a0001c0001t0037g0203 a0001c0001t0038g0310 a0001c0002t0009g0185 a0001c0002t0016g0026 a0001c0002t0023g0008 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0003g0294 a0001c0003t0009g0287 a0001c0004t0003g0297 a0001c0004t0004g0110 a0001c0004t0004g0134 a0001c0004t0010g0286 a0001c0004t0010g0295	78	310	0.2516	16	c.289 others(35): Show c.2897-1753_2897-1752insAAAAAAAAAAAGTAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42479996	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp1 NA19010.hp1 others(2): Show HG02559.hp2 HG03195.hp1 NA19010.hp1 NA19012.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 a0001c0004t0004	a0001c0001t0003g0197 a0001c0001t0003g0241 a0001c0001t0006g0251 others(2): Show a0001c0001t0003g0197 a0001c0001t0003g0241 a0001c0001t0006g0251 a0001c0001t0018g0162 a0001c0004t0004g0134	5	310	0.0161	16	c.232 others(35): Show c.2324+5484_2324+5499dupCACACACACACACACA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42480008	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02300.hp2 HG02451.hp1 others(8): Show HG01993.hp2 HG02300.hp2 HG02451.hp1 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03225.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0003t0002 a0001c0003t0003	a0001c0001t0001g0112 a0001c0001t0002g0181 a0001c0001t0002g0182 others(8): Show a0001c0001t0001g0112 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0008g0077 a0001c0001t0008g0120 a0001c0001t0011g0006 a0001c0001t0011g0007 a0001c0003t0002g0180 a0001c0003t0003g0293 a0001c0003t0003g0296	11	310	0.0355	16	c.232 others(35): Show c.2324+5487_2324+5488insAACACACACACACACA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555139	A A	ATCTAATC others(9): Show ATCTAATCTATCTATCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0294 a0001c0003t0003g0294	1	310	0.0032	16	c.141 others(33): Show c.1413+828_1413+829insAGATAGATAGATTAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555139	A A	ATCTATCT others(9): Show ATCTATCTATCTTATCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	310	0.0032	16	c.141 others(33): Show c.1413+828_1413+829insAGATAAGATAGATAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635780	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp1 NA19060.hp1 others(1): Show HG02647.hp1 HG03130.hp1 NA19060.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0015 a0001c0002t0004	a0001c0001t0001g0074 a0001c0001t0012g0303 a0001c0001t0015g0011 others(1): Show a0001c0001t0001g0074 a0001c0001t0012g0303 a0001c0001t0015g0011 a0001c0002t0004g0013	4	310	0.0129	16	c.50- others(31): Show c.50-8672_50-8671insATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACACATA others(9): Show CACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	310	0.0032	16	c.50- others(31): Show c.50-8674_50-8673insATATATATATATGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp2 HG01261.hp2 others(4): Show HG00280.hp1 HG01081.hp2 HG01261.hp2 HG01361.hp1 HG02258.hp2 HG02273.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0015 a0001c0002t0014 others(1): Show a0001c0001t0003 a0001c0001t0015 a0001c0002t0014 a0001c0004t0010	a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0269 others(4): Show a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0015g0003 a0001c0002t0014g0276 a0001c0004t0010g0286	7	310	0.0226	16	c.50- others(31): Show c.50-8689_50-8674dupATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635810	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02145.hp2 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0026 a0001c0002t0016g0032 a0001c0002t0016g0026 a0001c0002t0016g0032	2	310	0.0065	16	c.50- others(31): Show c.50-8702_50-8701insGTATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636152	A A	ACGCGCGC others(9): Show ACGCGCGCGCGTGCGCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0010 a0001c0003t0002 a0001c0004t0010	a0001c0003t0002g0180 a0001c0004t0010g0285 a0001c0003t0002g0180 a0001c0004t0010g0285	2	310	0.0065	16	c.50- others(31): Show c.50-9044_50-9043insCGCGCACGCGCGCGCG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636154	A A	ACGCGCGC others(9): Show ACGCGCGCGTGCGCGCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01106.hp2 others(17): Show HG00733.hp2 HG00735.hp1 HG01106.hp2 HG01515.hp2 HG02015.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03098.hp1 HG03669.hp2 NA19043.hp1 NA19086.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0007 a0001c0003 a0001c0004 a0002c0007	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(8): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0021 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0020 a0002c0007t0001	a0001c0003t0001g0173 a0001c0003t0002g0169 a0001c0003t0002g0170 others(17): Show a0001c0003t0001g0173 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0003t0005g0227 a0001c0003t0005g0284 a0001c0003t0021g0190 a0001c0004t0003g0297 a0001c0004t0004g0099 a0001c0004t0004g0110 a0001c0004t0004g0140 a0001c0004t0005g0306 a0001c0004t0010g0184 a0001c0004t0010g0286 a0001c0004t0010g0295 a0001c0004t0020g0028 a0002c0007t0001g0133	20	310	0.0645	16	c.50- others(31): Show c.50-9046_50-9045insCGCGCGCACGCGCGCG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636156	A A	ACGCGCGT others(9): Show ACGCGCGTGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01361.hp2 HG03195.hp2 others(6): Show HG00423.hp2 HG01361.hp2 HG03195.hp2 HG03927.hp2 NA18941.hp1 NA18968.hp1 NA18978.hp1 NA19012.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0028 a0001c0002t0004	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0002g0054 a0001c0001t0007g0070 a0001c0001t0015g0003 a0001c0001t0028g0056 a0001c0002t0004g0068	9	310	0.0290	16	c.50- others(31): Show c.50-9048_50-9047insCGCGCGCGCACGCGCG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465663	T T	TTTTCTTC others(9): Show TTTTCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0043 a0001c0006t0043	a0001c0006t0043g0095 a0001c0006t0043g0095	1	122	0.0082	16	c.77- others(31): Show c.77-3308_77-3307insCCTTCCTTTCTTTCTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465737	T T	TTCTTTCT others(9): Show TTCTTTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0091 a0001c0010t0012g0091	1	122	0.0082	16	c.77- others(31): Show c.77-3238_77-3237insTTTCTTTCCCTCCCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(9): Show CCTCCCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03490.hp2 HG02273.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0021 a0001c0002t0020 a0001c0002t0021	a0001c0002t0020g0097 a0001c0002t0021g0017 a0001c0002t0020g0097 a0001c0002t0021g0017	2	122	0.0164	16	c.77- others(31): Show c.77-3226_77-3225insCCTCTCTCTCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25506940	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG02896.hp2 others(4): Show HG00642.hp1 HG00738.hp1 HG02896.hp2 HG03098.hp1 HG03579.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0009 a0001c0001t0050 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0050 a0001c0003t0060 a0001c0008t0013 a0001c0008t0033 a0001c0008t0057	a0001c0001t0001g0036 a0001c0001t0009g0065 a0001c0001t0050g0025 others(4): Show a0001c0001t0001g0036 a0001c0001t0009g0065 a0001c0001t0050g0025 a0001c0003t0060g0115 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070	7	122	0.0574	16	c.222 others(35): Show c.222-23052_222-23037dupATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25524886	A A	ACTTCCTT others(9): Show ACTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0087 a0001c0001t0030g0087	1	122	0.0082	16	c.222 others(33): Show c.222-5076_222-5061dupCTTCCTTCCTTCCTTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0061 a0001c0001t0011g0061	1	122	0.0082	16	c.275 others(35): Show c.2754+1514_2754+1529dupATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25889245	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(14): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01175.hp1 HG01243.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02622.hp2 NA18522.hp1 NA18986.hp1 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009	a0001c0001t0005 a0001c0001t0018 a0001c0001t0026 others(14): Show a0001c0001t0005 a0001c0001t0018 a0001c0001t0026 a0001c0001t0046 a0001c0001t0051 a0001c0001t0074 a0001c0002t0001 a0001c0002t0003 a0001c0002t0032 a0001c0002t0063 a0001c0003t0006 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0068 a0001c0008t0033 a0001c0009t0037	a0001c0001t0005g0102 a0001c0001t0018g0041 a0001c0001t0026g0090 others(14): Show a0001c0001t0005g0102 a0001c0001t0018g0041 a0001c0001t0026g0090 a0001c0001t0046g0045 a0001c0001t0051g0053 a0001c0001t0074g0116 a0001c0002t0001g0035 a0001c0002t0003g0088 a0001c0002t0032g0023 a0001c0002t0063g0050 a0001c0003t0006g0078 a0001c0004t0002g0049 a0001c0004t0003g0007 a0001c0004t0004g0048 a0001c0004t0068g0071 a0001c0008t0033g0075 a0001c0009t0037g0008	17	122	0.1393	16	c.318 others(37): Show c.3183+26851_3183+26866dupTATATATATATATATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG02273.hp1 others(6): Show HG01175.hp1 HG01358.hp2 HG02273.hp1 HG03130.hp1 HG03579.hp1 NA18952.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 a0001c0001t0051 a0001c0002t0001 a0001c0002t0006 a0001c0003t0006 a0001c0003t0007 a0001c0003t0065	a0001c0001t0002g0079 a0001c0001t0008g0073 a0001c0001t0025g0009 others(6): Show a0001c0001t0002g0079 a0001c0001t0008g0073 a0001c0001t0025g0009 a0001c0001t0051g0053 a0001c0002t0001g0032 a0001c0002t0006g0119 a0001c0003t0006g0078 a0001c0003t0007g0109 a0001c0003t0065g0033	9	122	0.0738	16	c.318 others(37): Show c.3183+30081_3183+30096dupTCTCTCTCTCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25902939	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG06807.hp2 NA19004.hp2 HG03490.hp2 HG06807.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0020 a0001c0002t0001 a0001c0002t0020	a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0020g0097 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0020g0097	3	122	0.0246	16	c.318 others(37): Show c.3183+40549_3183+40564dupACACACACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTCTTT others(9): Show CTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0026 a0001c0003t0010g0026	1	122	0.0082	16	c.318 others(37): Show c.3184-24210_3184-24209insCTTTTTTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01243.hp1 HG02080.hp2 others(15): Show HG00408.hp2 HG01243.hp1 HG02080.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 NA18983.hp1 NA19030.hp2 NA20805.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0003 a0011c0015 a0001c0001 a0003c0003 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0028 a0003c0003t0018 a0003c0003t0022 a0003c0003t0024 a0003c0003t0042 a0011c0015t0010	a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0002g0250 others(15): Show a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0004g0128 a0001c0001t0007g0212 a0001c0001t0007g0247 a0001c0001t0007g0252 a0001c0001t0007g0302 a0001c0001t0010g0151 a0001c0001t0010g0162 a0001c0001t0020g0165 a0001c0001t0028g0304 a0003c0003t0018g0282 a0003c0003t0022g0135 a0003c0003t0024g0185 a0003c0003t0042g0182 a0011c0015t0010g0155	18	314	0.0573	16	c.353 others(33): Show c.3532-171_3532-170insTACACACACACACACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57649190	A A	ATATCTAT others(9): Show ATATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01515.hp2 HG03516.hp1 others(7): Show HG01346.hp1 HG01515.hp2 HG03516.hp1 HG03831.hp2 NA18950.hp2 NA18974.hp2 NA18978.hp2 NA18991.hp2 NA19079.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0019 a0002c0002 a0001c0001 a0001c0019 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0019t0031 a0002c0002t0014 a0002c0002t0019 a0002c0002t0037	a0001c0001t0002g0213 a0001c0001t0006g0030 a0001c0001t0009g0205 others(7): Show a0001c0001t0002g0213 a0001c0001t0006g0030 a0001c0001t0009g0205 a0001c0001t0009g0288 a0001c0001t0012g0160 a0001c0001t0013g0268 a0001c0019t0031g0062 a0002c0002t0014g0293 a0002c0002t0019g0038 a0002c0002t0037g0175	10	314	0.0319	16	c.353 others(33): Show c.3532-494_3532-479dupGATAGATAGATAGATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672883	A A	AGTATATA others(9): Show AGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03195.hp1 HG00673.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0303 a0001c0001t0005g0046 a0001c0001t0003g0303 a0001c0001t0005g0046	2	314	0.0064	16	c.182 others(35): Show c.1820-1304_1820-1303insATATATATATATATAC	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	314	0.0032	16	c.163 others(35): Show c.1630+3743_1630+3758dupTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713157	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01952.hp2 HG02071.hp1 others(9): Show HG00438.hp2 HG01952.hp2 HG02071.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG03490.hp2 NA18968.hp1 NA19000.hp2 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0002g0201 others(9): Show a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0002g0201 a0001c0001t0002g0214 a0001c0001t0002g0298 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0006g0093 a0001c0001t0009g0215 a0001c0001t0009g0243 a0001c0001t0010g0146 a0001c0001t0011g0145	12	314	0.0382	16	c.182 others(33): Show c.182-6586_182-6571dupAAGAAAGAAAGAAAGA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713196	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA21309.hp2 NA18974.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0014 a0001c0001t0001 a0002c0002t0014	a0001c0001t0001g0006 a0002c0002t0014g0293 a0001c0001t0001g0006 a0002c0002t0014g0293	2	314	0.0064	16	c.182 others(33): Show c.182-6610_182-6609insGGAAGGAAAGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713196	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp1 HG01891.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0021 a0001c0012t0035 a0001c0001t0021 a0001c0012t0035	a0001c0001t0021g0001 a0001c0012t0035g0008 a0001c0001t0021g0001 a0001c0012t0035g0008	2	314	0.0064	16	c.182 others(33): Show c.182-6610_182-6609insGGAAAGAAAGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(9): Show CTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	314	0.0032	16	c.182 others(33): Show c.182-6654_182-6653insAGAAAGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(9): Show CTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02071.hp2 HG02572.hp1 others(2): Show HG01261.hp2 HG02071.hp2 HG02572.hp1 HG02735.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0018t0007	a0001c0001t0002g0203 a0001c0001t0003g0238 a0001c0001t0005g0085 others(2): Show a0001c0001t0002g0203 a0001c0001t0003g0238 a0001c0001t0005g0085 a0001c0001t0013g0216 a0001c0018t0007g0234	5	314	0.0159	16	c.182 others(33): Show c.182-6654_182-6653insAGAAAGAAAGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCTTTC others(9): Show CTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03486.hp2 NA18950.hp1 others(2): Show HG01167.hp2 HG03486.hp2 NA18950.hp1 NA18987.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0039 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0039 a0001c0001t0040	a0001c0001t0003g0198 a0001c0001t0003g0239 a0001c0001t0004g0138 others(2): Show a0001c0001t0003g0198 a0001c0001t0003g0239 a0001c0001t0004g0138 a0001c0001t0039g0149 a0001c0001t0040g0148	5	314	0.0159	16	c.182 others(33): Show c.182-6669_182-6654dupAGAAAGAAAGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57732309	G G	GTATATAT others(9): Show GTATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0286 a0001c0001t0009g0286	1	314	0.0032	16	c.-25 others(31): Show c.-25-478_-25-477insTATACACATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756192	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp2 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0279 a0001c0001t0028g0304 a0001c0001t0002g0279 a0001c0001t0028g0304	2	314	0.0064	16	c.-25 others(35): Show c.-25-24376_-25-24361dupATATATATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756236	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0041	1	314	0.0032	16	c.-25 others(35): Show c.-25-24405_-25-24404insATGTGTGTGTGTGTGT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG01081.hp1 others(18): Show HG00738.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01515.hp1 HG01517.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG03041.hp1 HG03471.hp1 HG03490.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 NA18939.hp2 NA18980.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0001c0019 a0002c0002 others(2): Show a0001c0001 a0001c0019 a0002c0002 a0003c0003 a0012c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0025 a0001c0019t0031 a0002c0002t0014 a0003c0003t0018 a0012c0020t0012	a0001c0001t0001g0006 a0001c0001t0001g0053 a0001c0001t0001g0076 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0004g0129 a0001c0001t0006g0023 a0001c0001t0006g0057 a0001c0001t0006g0082 a0001c0001t0007g0270 a0001c0001t0007g0302 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0104 a0001c0001t0010g0153 a0001c0001t0011g0145 a0001c0001t0025g0306 a0001c0019t0031g0062 a0002c0002t0014g0229 a0002c0002t0014g0266 a0003c0003t0018g0267 a0012c0020t0012g0173	21	314	0.0669	16	c.-25 others(35): Show c.-25-24474_-25-24473insCATATATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756653	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0022 a0003c0003t0022	a0003c0003t0022g0111 a0003c0003t0022g0111	1	314	0.0032	16	c.-25 others(35): Show c.-25-24837_-25-24822dupGAGAGAGAGAGAGAGA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1778866	T T	TCACACAC others(9): Show TCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0005 a0003c0002t0002g0005	1	390	0.0026	16	c.41 others(27): Show c.4146_*4161dupTGTGTGTGTGTGTGTG	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding		3208		chr19	TogoVar
ATP8B4_chr15_49853238_50124233	49861473	T T	TCTATCTA others(9): Show TCTATCTATCTATCTAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03942.hp1 NA20905.hp2 HG00140.hp1 HG03942.hp1 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0013 a0003c0003t0007 a0003c0003t0013	a0003c0003t0007g0049 a0003c0003t0007g0060 a0003c0003t0013g0145 a0003c0003t0007g0049 a0003c0003t0007g0060 a0003c0003t0013g0145	3	254	0.0118	16	c.329 others(33): Show c.3297+771_3297+772insGTAGATAGATAGATAG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	27/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	49978739	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02148.hp2 NA18949.hp1 HG02056.hp2 HG02148.hp2 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0142 a0002c0002t0001g0205 a0002c0002t0002g0029 a0002c0002t0001g0142 a0002c0002t0001g0205 a0002c0002t0002g0029	3	254	0.0118	16	c.103 others(33): Show c.1034+862_1034+877dupGTGTGTGTGTGTGTGT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	12/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50027379	G G	GTGGATGG others(9): Show GTGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(85): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp1 HG02738.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18963.hp1 NA18973.hp1 NA18983.hp2 NA18995.hp1 NA19003.hp2 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19065.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0014	a0001c0001 a0001c0014 a0002c0002 others(9): Show a0001c0001 a0001c0014 a0002c0002 a0003c0003 a0004c0004 a0004c0010 a0005c0005 a0006c0006 a0008c0008 a0010c0012 a0011c0011 a0014c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0026 a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0013 a0004c0004t0005 a0004c0004t0018 a0004c0010t0005 a0005c0005t0001 a0005c0005t0002 a0005c0005t0021 a0006c0006t0004 a0006c0006t0006 a0008c0008t0005 a0008c0008t0009 a0008c0008t0017 a0010c0012t0001 a0010c0012t0002 a0011c0011t0002 a0014c0016t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 others(85): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0238 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0026 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0003g0244 a0001c0001t0004g0074 a0001c0001t0006g0156 a0001c0001t0010g0092 a0001c0001t0013g0102 a0001c0001t0026g0233 a0001c0014t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0118 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0155 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0202 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0218 a0002c0002t0002g0058 a0002c0002t0002g0066 a0002c0002t0002g0069 a0002c0002t0003g0119 a0002c0002t0003g0129 a0002c0002t0003g0214 a0002c0002t0006g0104 a0002c0002t0008g0133 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0182 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0222 a0003c0003t0001g0224 a0003c0003t0001g0247 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0017 a0003c0003t0002g0019 a0003c0003t0002g0027 a0003c0003t0002g0033 a0003c0003t0002g0059 a0003c0003t0002g0061 a0003c0003t0002g0079 a0003c0003t0004g0015 a0003c0003t0013g0145 a0004c0004t0005g0249 a0004c0004t0018g0018 a0004c0010t0005g0152 a0005c0005t0001g0251 a0005c0005t0002g0023 a0005c0005t0021g0040 a0006c0006t0004g0010 a0006c0006t0006g0116 a0008c0008t0005g0100 a0008c0008t0009g0178 a0008c0008t0017g0025 a0010c0012t0001g0096 a0010c0012t0002g0051 a0011c0011t0002g0053 a0014c0016t0001g0212	88	254	0.3465	16	c.362 others(35): Show c.362+11373_362+11388dupTCCATCCATCCATCCA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	6/27			chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)