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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP13A3_chr3_194397677_194492002	194421944	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02572.hp2 HG02738.hp2 others(3): Show HG01978.hp2 HG02572.hp2 HG02738.hp2 HG03669.hp2 NA19078.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0021 others(1): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0021 a0001c0001t0047	a0001c0001t0004g0032 a0001c0001t0015g0282 a0001c0001t0015g0283 others(3): Show a0001c0001t0004g0032 a0001c0001t0015g0282 a0001c0001t0015g0283 a0001c0001t0015g0285 a0001c0001t0021g0178 a0001c0001t0047g0284	6	304	0.0197	14	c.331 others(33): Show c.3314-1991_3314-1978dupTTTTTTTTTTTTTT		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33						chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194468386	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG03139.hp1 others(1): Show HG02647.hp1 HG02896.hp2 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0029 a0001c0001t0002 a0001c0001t0009 a0001c0001t0029	a0001c0001t0002g0192 a0001c0001t0009g0012 a0001c0001t0009g0013 others(1): Show a0001c0001t0002g0192 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0029g0009	4	304	0.0132	14	c.-46 others(31): Show c.-46-6164_-46-6151dupTTTTTTTTTTTTTT		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	2/33						chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193503994	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG06807.hp1 NA18522.hp1 others(1): Show HG01884.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0002 a0002c0007t0001 a0002c0007t0002	a0002c0007t0001g0102 a0002c0007t0002g0031 a0002c0007t0002g0103 others(1): Show a0002c0007t0001g0102 a0002c0007t0002g0031 a0002c0007t0002g0103 a0002c0007t0002g0114	4	302	0.0133	14	c.235 others(31): Show c.235-1356_235-1355insACACACACACACAC		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	2/29						chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193503995	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0273 a0001c0004t0015g0273	1	302	0.0033	14	c.235 others(31): Show c.235-1370_235-1357dupCACACACACACACA		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	2/29						chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193504020	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0138 a0001c0008t0014g0138	1	302	0.0033	14	c.235 others(31): Show c.235-1382_235-1381insTCACACACACACAC		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	2/29						chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193540000	T T	TCCCCATA others(7): Show TCCCCATAAGGTTGA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	302	0.0033	14	c.60+ others(31): Show c.60+14726_60+14739dupTCAACCTTATGGGG		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29						chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193270069	A A	AATACACA others(7): Show AATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0100 a0001c0006t0001g0100	1	284	0.0035	14	c.49 others(25): Show c.4972_*4973insGTGTGTGTGTGTAT		ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding					4719		chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193354940	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02074.hp1 HG02293.hp1 others(4): Show HG01978.hp1 HG02074.hp1 HG02293.hp1 HG02572.hp2 HG02717.hp1 HG03654.hp1 NA19240.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0001 a0003c0002 a0009c0009 a0002c0001 a0003c0002 a0009c0009	a0002c0001t0001 a0003c0002t0001 a0009c0009t0001 a0002c0001t0001 a0003c0002t0001 a0009c0009t0001	a0002c0001t0001g0102 a0002c0001t0001g0110 a0002c0001t0001g0113 others(4): Show a0002c0001t0001g0102 a0002c0001t0001g0110 a0002c0001t0001g0113 a0003c0002t0001g0097 a0009c0009t0001g0106 a0009c0009t0001g0112 a0009c0009t0001g0136	7	284	0.0247	14	c.537 others(29): Show c.537-745_537-744insAAAAAAAAAAAAAA		ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	5/29						chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193368392	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00735.hp1 others(16): Show HG00323.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG02055.hp2 HG02293.hp2 HG02683.hp2 HG02698.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03834.hp2 HG04228.hp1 NA18956.hp1 NA19077.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0010 others(2): Show a0001 a0009 a0010 a0021 a0029	a0001c0006 a0009c0009 a0009c0034 others(3): Show a0001c0006 a0009c0009 a0009c0034 a0010c0017 a0021c0033 a0029c0025	a0001c0006t0001 a0009c0009t0001 a0009c0034t0001 others(3): Show a0001c0006t0001 a0009c0009t0001 a0009c0034t0001 a0010c0017t0002 a0021c0033t0001 a0029c0025t0001	a0001c0006t0001g0011 a0001c0006t0001g0012 a0001c0006t0001g0161 others(14): Show a0001c0006t0001g0011 a0001c0006t0001g0012 a0001c0006t0001g0161 a0001c0006t0001g0164 a0001c0006t0001g0165 a0001c0006t0001g0166 a0001c0006t0001g0167 a0001c0006t0001g0169 a0001c0006t0001g0170 a0001c0006t0001g0182 a0009c0009t0001g0163 a0009c0034t0001g0162 a0010c0017t0002g0236 a0010c0017t0002g0237 a0010c0017t0002g0238 a0021c0033t0001g0168 a0029c0025t0001g0172	19	284	0.0669	14	c.64- others(29): Show c.64-4126_64-4113dupCACACACACACACA		ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	1/29						chr3	TogoVar
ATP1A4_chr1_160146603_160191980	160186086	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(89): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01433.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02922.hp2 HG03225.hp2 HG03239.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0022 a0026	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0020 a0002c0002 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0003c0007 a0003c0017 a0004c0012 a0004c0021 a0004c0026 a0005c0014 a0007c0016 a0022c0031 a0026c0058	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0003 a0001c0011t0001 a0001c0020t0001 a0002c0002t0002 a0002c0002t0007 a0002c0006t0002 a0002c0008t0001 a0002c0009t0002 a0002c0010t0002 a0002c0010t0007 a0003c0007t0001 a0003c0017t0001 a0004c0012t0001 a0004c0021t0001 a0004c0026t0001 a0005c0014t0001 a0007c0016t0001 a0007c0016t0003 a0022c0031t0001 a0026c0058t0002	a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0239 others(86): Show a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0239 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0003g0231 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0374 a0001c0001t0003g0390 a0001c0001t0003g0391 a0001c0003t0001g0043 a0001c0003t0001g0046 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0090 a0001c0003t0001g0307 a0001c0003t0001g0321 a0001c0004t0001g0012 a0001c0004t0001g0074 a0001c0004t0001g0089 a0001c0004t0001g0110 a0001c0004t0001g0237 a0001c0004t0001g0318 a0001c0004t0001g0325 a0001c0004t0001g0328 a0001c0004t0001g0329 a0001c0004t0001g0334 a0001c0004t0001g0376 a0001c0004t0003g0377 a0001c0005t0001g0062 a0001c0005t0001g0229 a0001c0005t0001g0256 a0001c0005t0001g0273 a0001c0005t0001g0274 a0001c0005t0001g0305 a0001c0005t0003g0234 a0001c0005t0003g0253 a0001c0011t0001g0015 a0001c0011t0001g0286 a0001c0011t0001g0398 a0001c0020t0001g0299 a0002c0002t0002g0006 a0002c0002t0002g0134 a0002c0002t0002g0158 a0002c0002t0002g0166 a0002c0002t0002g0170 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0181 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0209 a0002c0002t0002g0362 a0002c0002t0007g0164 a0002c0006t0002g0142 a0002c0006t0002g0189 a0002c0006t0002g0358 a0002c0006t0002g0359 a0002c0008t0001g0371 a0002c0009t0002g0128 a0002c0009t0002g0199 a0002c0009t0002g0207 a0002c0010t0002g0120 a0002c0010t0002g0126 a0002c0010t0007g0131 a0003c0007t0001g0021 a0003c0007t0001g0024 a0003c0007t0001g0034 a0003c0017t0001g0301 a0004c0012t0001g0031 a0004c0012t0001g0040 a0004c0021t0001g0290 a0004c0026t0001g0033 a0005c0014t0001g0294 a0007c0016t0001g0032 a0007c0016t0003g0235 a0007c0016t0003g0375 a0022c0031t0001g0220 a0026c0058t0002g0194	92	418	0.2201	14	c.297 others(31): Show c.2970-181_2970-168dupAAAAAAAAAAAAAA		ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	408	0.0025	14	c.-23 others(25): Show c.-2364_-2363insAAAAAAATATATAT		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAATA others(7): Show AAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG03225.hp2 NA18953.hp1 others(2): Show HG02896.hp2 HG03225.hp2 NA18953.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0012 a0001c0001t0003g0027 a0001c0001t0003g0030 others(2): Show a0001c0001t0003g0012 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0047 a0001c0001t0005g0059	5	408	0.0123	14	c.-23 others(25): Show c.-2364_-2363insAAAAATATATATAT		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAATATA others(7): Show AAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 NA18965.hp1 HG02647.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0034 a0001c0001t0008g0303 a0001c0001t0003g0034 a0001c0001t0008g0303	2	408	0.0049	14	c.-23 others(25): Show c.-2364_-2363insAAATATATATATAT		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AATATATA others(7): Show AATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	408	0.0025	14	c.-23 others(25): Show c.-2364_-2363insATATATATATATAT		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874464	T T	TATATATA others(7): Show TATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	408	0.0025	14	c.-23 others(25): Show c.-2338_-2337insATATATATACACAC		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2178		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874464	T T	TATATATA others(7): Show TATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	408	0.0025	14	c.-23 others(25): Show c.-2338_-2337insATATATATATACAC		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2178		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874464	T T	TATATATA others(7): Show TATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 NA18951.hp1 NA18955.hp2 others(3): Show HG01081.hp1 NA18951.hp1 NA18955.hp2 NA18987.hp2 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0031 others(3): Show a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0031 a0001c0001t0003g0052 a0001c0001t0003g0066 a0001c0001t0003g0067	6	408	0.0147	14	c.-23 others(25): Show c.-2338_-2337insATATATATATATAC		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding					2178		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141879778	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0076 a0001c0001t0009g0076	1	408	0.0025	14	c.109 others(31): Show c.109+2879_109+2880insACAAAAAAAAAAAA		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141879779	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03486.hp1 NA18998.hp2 others(1): Show HG02738.hp2 HG03486.hp1 NA18998.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0075 others(1): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0075 a0001c0001t0005g0014	4	408	0.0098	14	c.109 others(31): Show c.109+2879_109+2880insAACCAAAAAAAAAA		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP1B4_chrX_120357089_120388237	120366735	T T	TACCTGTG others(7): Show TACCTGTGGGATCCA	frameshift_variant frameshift_variant	HIGH	NA18987.hp2 NA18987.hp2	a0008 a0008	a0008c0004 a0008c0004	a0008c0004t0001 a0008c0004t0001	a0008c0004t0001g0140 a0008c0004t0001g0140	1	353	0.0028	14	c.275 others(21): Show c.275_288dupACCTGTGGGATCCA	p.Glu others(4): Show p.Glu97fs	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	2/8	369/4757	289/1074	97/357		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP2A2_chr12_110276247_110356093	110293864	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	228	0.0044	14	c.324 others(31): Show c.324+1741_324+1742insGTGTGTGTGTGTAT		ATP2A2	ENSG00000174437.18	transcript	ENST00000539276.7	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP2A2_chr12_110276247_110356093	110309140	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp2 HG01081.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0196 a0001c0001t0003g0189 a0001c0001t0003g0196	2	228	0.0088	14	c.463 others(33): Show c.463+12425_463+12438dupTTTTTTTTTTTTTT		ATP2A2	ENSG00000174437.18	transcript	ENST00000539276.7	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP2A3_chr17_3918873_3969437	3958869	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02738.hp2 HG03209.hp1 others(2): Show HG01433.hp2 HG02738.hp2 HG03209.hp1 HG03654.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0002t0002 a0001c0001t0025 a0001c0002t0002	a0001c0001t0025g0123 a0001c0002t0002g0119 a0001c0002t0002g0120 others(2): Show a0001c0001t0025g0123 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122	5	332	0.0151	14	c.119 others(31): Show c.119-5160_119-5159insGTATATATATATAT		ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	1/20						chr17	TogoVar
ATP2A3_chr17_3918873_3969437	3965877	T T	TTATTATT others(7): Show TTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG01361.hp1 others(11): Show HG00673.hp2 HG00733.hp2 HG01361.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG04204.hp1 NA18954.hp2 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0003 a0001c0004 a0001c0005 others(3): Show a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0002c0006 a0007c0030	a0001c0003t0005 a0001c0004t0001 a0001c0004t0006 others(8): Show a0001c0003t0005 a0001c0004t0001 a0001c0004t0006 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0012t0001 a0002c0006t0001 a0002c0006t0010 a0002c0006t0026 a0007c0030t0001	a0001c0003t0005g0060 a0001c0004t0001g0081 a0001c0004t0006g0088 others(9): Show a0001c0003t0005g0060 a0001c0004t0001g0081 a0001c0004t0006g0088 a0001c0005t0001g0026 a0001c0005t0002g0093 a0001c0005t0004g0094 a0001c0012t0001g0039 a0002c0006t0001g0004 a0002c0006t0001g0050 a0002c0006t0010g0003 a0002c0006t0026g0020 a0007c0030t0001g0057	14	332	0.0422	14	c.-15 others(25): Show c.-1587_-1586insTAATAATAATAATA		ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding					1441		chr17	TogoVar
ATP2B1_chr12_89583049_89713838	89583790	C C	CGGGGGGG others(7): Show CGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	332	0.0030	14	c.71 others(25): Show c.7193_*7194insCCCCCCCCCCCCCC		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding					4258		chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89643065	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	332	0.0030	14	c.209 others(29): Show c.209-724_209-711dupGTGTGTGTGTGTGT		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	2/20						chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89658598	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02015.hp1 HG02293.hp2 others(8): Show HG00140.hp2 HG02015.hp1 HG02293.hp2 HG03516.hp2 HG03710.hp1 HG03831.hp2 NA18953.hp2 NA19009.hp2 NA19010.hp1 NA19058.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0074 a0001c0001t0001g0124 a0001c0001t0001g0192 others(8): Show a0001c0001t0001g0074 a0001c0001t0001g0124 a0001c0001t0001g0192 a0001c0001t0001g0239 a0001c0001t0001g0281 a0001c0001t0001g0296 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0008g0212 a0001c0002t0001g0114 a0001c0004t0001g0119	11	332	0.0331	14	c.-22 others(33): Show c.-221-2505_-221-2492dupTCTCTCTCTCTCTC		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89658641	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	332	0.0030	14	c.-22 others(33): Show c.-221-2535_-221-2534insATCTCTCTCTCTCT		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677954	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG02630.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0021 a0001c0002t0001 a0001c0003t0021	a0001c0002t0001g0113 a0001c0003t0021g0049 a0001c0002t0001g0113 a0001c0003t0021g0049	2	332	0.0060	14	c.-22 others(35): Show c.-221-21861_-221-21848dupTATATATATATATA		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677954	T T	TTATATAT others(7): Show TTATATATATATATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00597.hp2 others(29): Show HG00099.hp1 HG00544.hp1 HG00597.hp2 HG01257.hp2 HG01261.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG02451.hp2 HG02602.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03927.hp1 HG04184.hp2 NA18747.hp2 NA18941.hp2 NA18945.hp2 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18983.hp1 NA18999.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp2 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(29): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0005t0001g0083 a0001c0005t0001g0084 a0001c0005t0001g0101	32	332	0.0964	14	c.-22 others(35): Show c.-221-21848_-221-21847insCATATATATATATA		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677971	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	332	0.0030	14	c.-22 others(35): Show c.-221-21865_-221-21864insGTGTATATATATAT		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677971	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	332	0.0030	14	c.-22 others(35): Show c.-221-21865_-221-21864insGTATATATATATAT		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP2B2_chr3_10319023_10510586	10471364	C C	CTGAGTGT others(7): Show CTGAGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01516.hp2 HG01081.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0037 a0001c0002t0004g0030 a0001c0002t0004g0037	2	290	0.0069	14	c.-31 others(35): Show c.-319-21503_-319-21502insCACACACACACTCA		ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	1/22						chr3	TogoVar
ATP2B3_chrX_153512642_153587929	153578915	A A	ACAGGGGC others(7): Show ACAGGGGCATCTGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0021 a0000c0008t0021	a0000c0008t0021g0228 a0000c0008t0021g0228	1	267	0.0038	14	c.334 others(33): Show c.3343-1059_3343-1046dupGGGCATCTGAGCAG		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding	21/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP2B4_chr1_203621832_203749081	203686685	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01934.hp2 HG02809.hp1 others(3): Show HG00438.hp1 HG01934.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0029 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0029 a0001c0001t0055 a0001c0003t0007 a0001c0003t0009	a0001c0001t0001g0110 a0001c0001t0012g0311 a0001c0001t0029g0011 others(3): Show a0001c0001t0001g0110 a0001c0001t0012g0311 a0001c0001t0029g0011 a0001c0001t0055g0022 a0001c0003t0007g0176 a0001c0003t0009g0075	6	318	0.0189	14	c.193 others(31): Show c.193+3300_193+3313dupTTTTTTTTTTTTTT		ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203723420	A A	ATCTCTCT others(7): Show ATCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01993.hp2 HG02109.hp1 others(3): Show HG00733.hp1 HG01993.hp2 HG02109.hp1 HG03239.hp2 HG03834.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0016 a0001c0001 a0001c0012 a0001c0016	a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 a0001c0012t0032 a0001c0016t0004	a0001c0001t0005g0002 a0001c0001t0005g0095 a0001c0001t0009g0056 others(3): Show a0001c0001t0005g0002 a0001c0001t0005g0095 a0001c0001t0009g0056 a0001c0001t0019g0240 a0001c0012t0032g0054 a0001c0016t0004g0208	6	318	0.0189	14	c.302 others(31): Show c.3025-434_3025-421dupTCTCTCTCTCTCTC		ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203723457	T T	TCTCTCTC others(7): Show TCTCTCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02257.hp1 HG01993.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0045 a0001c0001t0002 a0001c0002t0045	a0001c0001t0002g0260 a0001c0002t0045g0074 a0001c0001t0002g0260 a0001c0002t0045g0074	2	318	0.0063	14	c.302 others(31): Show c.3025-421_3025-420insTCTCTCCCTCCCTC		ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130941252	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	382	0.0026	14	c.423 others(29): Show c.423-328_423-315dupTGTCTGTGTGTGTG		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	7/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130970369	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	382	0.0026	14	c.141 others(32): Show c.1413+998_1413+1011dupACACACACACACAC		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	17/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	131006635	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18966.hp1 NA18948.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0219 a0001c0001t0001g0220	2	382	0.0052	14	c.52 others(25): Show c.5285_*5286insTGTGTGTGTGTGTG		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding					3486		chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02056.hp2 HG02083.hp1 others(12): Show HG00280.hp2 HG02056.hp2 HG02083.hp1 HG02258.hp2 HG03041.hp2 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18968.hp1 NA18970.hp2 NA18974.hp1 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA19002.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0006 a0002c0008 a0002c0014 a0004c0027	a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 others(6): Show a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0002c0006t0001 a0002c0006t0002 a0002c0008t0001 a0002c0014t0001 a0004c0027t0001	a0001c0001t0003g0323 a0001c0002t0002g0098 a0001c0002t0002g0352 others(12): Show a0001c0001t0003g0323 a0001c0002t0002g0098 a0001c0002t0002g0352 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0093 a0001c0003t0001g0137 a0001c0003t0001g0162 a0001c0005t0001g0421 a0002c0006t0001g0096 a0002c0006t0001g0102 a0002c0006t0002g0091 a0002c0008t0001g0290 a0002c0014t0001g0092 a0004c0027t0001g0245	15	432	0.0347	14	c.100 others(29): Show c.100-839_100-826dupAAAAAAAAAAAAAA		ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5F1A_chr18_46075248_46103296	46094186	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01934.hp1 HG02040.hp1 others(9): Show HG00408.hp1 HG01934.hp1 HG02040.hp1 HG02071.hp2 HG02683.hp1 HG02735.hp1 HG03098.hp2 HG03195.hp2 HG03579.hp2 NA18956.hp1 NA18968.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0077 a0001c0001t0081 a0001c0001t0133 a0003c0005t0017	a0001c0001t0002g0037 a0001c0001t0002g0159 a0001c0001t0006g0038 others(7): Show a0001c0001t0002g0037 a0001c0001t0002g0159 a0001c0001t0006g0038 a0001c0001t0009g0266 a0001c0001t0009g0269 a0001c0001t0017g0190 a0001c0001t0077g0174 a0001c0001t0081g0156 a0001c0001t0133g0267 a0003c0005t0017g0191	12	390	0.0308	14	c.139 others(29): Show c.139+866_139+867insATGTGTGTGTGTGT		ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	2/11						chr18	TogoVar
ATP5F1A_chr18_46075248_46103296	46096982	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0118 a0003c0005t0118	a0003c0005t0118g0219 a0003c0005t0118g0219	1	390	0.0026	14	c.60+ others(29): Show c.60+1176_60+1189dupTTTTTTTTTTTTTT		ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	1/11						chr18	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01169.hp2 others(7): Show HG01070.hp1 HG01167.hp1 HG01169.hp2 HG02056.hp1 HG02293.hp1 HG02451.hp2 HG02976.hp2 HG06807.hp1 NA18939.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0002 a0001c0001t0002g0004	10	334	0.0299	14	c.32 others(25): Show c.3298_*3299insAAAAAAAAAAAAAA		ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding					3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53667954	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	418	0.0024	14	c.311 others(31): Show c.311+1193_311+1194insATATATATATATAT		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4						chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CACACATA others(7): Show CACACATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18974.hp2 NA19080.hp1 NA18948.hp1 NA18974.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0196 a0001c0001t0001g0055 a0001c0001t0001g0196	3	418	0.0072	14	c.311 others(31): Show c.311+1191_311+1192insATATATATATGTGT		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4						chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CACATATA others(7): Show CACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp2 HG01981.hp1 others(16): Show HG00438.hp1 HG01928.hp2 HG01981.hp1 HG02027.hp2 HG02132.hp2 HG02572.hp1 HG03017.hp2 HG03688.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp2 NA18957.hp1 NA18966.hp2 NA18969.hp1 NA18983.hp1 NA19060.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0053 a0001c0001t0001g0070 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0242	19	418	0.0455	14	c.311 others(31): Show c.311+1191_311+1192insATATATATATATGT		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4						chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp2 HG01943.hp2 others(4): Show HG01243.hp1 HG01361.hp2 HG01943.hp2 HG02735.hp2 HG03927.hp2 HG06807.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0120 a0001c0001t0001g0137 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0120 a0001c0001t0001g0137 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0227	7	418	0.0168	14	c.311 others(31): Show c.311+1178_311+1191dupATATATATATATAT		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4						chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	418	0.0024	14	c.39+ others(27): Show c.39+479_39+492dupTTTTTTTTTTTTTT		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4						chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53679238	C C	CGAGAGAG others(7): Show CGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02055.hp2 HG02280.hp1 others(6): Show HG02015.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0128 a0001c0001t0001g0149 a0001c0001t0001g0185	9	418	0.0215	14	c.-32 others(25): Show c.-3218_-3217insTCTCTCTCTCTCTC		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding					3156		chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)