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 (≤).

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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
ASDURF_chr2_189656459_189671401	189665606	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	340	0.0029	36	c.220 others(51): Show c.220+188_220+189insGTGTATATATATATATATATATATATATAT ATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	182	0.0055	36	c.600 others(55): Show c.6008+4161_6008+4162insATATATATATATATATATATATATAT ATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(29): Show AATAAATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18954.hp1 HG04199.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0146 a0001c0001t0001g0054 a0001c0001t0001g0146	2	182	0.0110	36	c.600 others(55): Show c.6008+4157_6008+4158insATATATATATATATATATATATATAT ATTTATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(29): Show AATATATATATATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	182	0.0055	36	c.600 others(55): Show c.6008+4157_6008+4158insATATATATATATATATATATATTTAT ATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASIC2_chr17_33008087_33298295	33269613	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	240	0.0042	36	c.708 others(55): Show c.708+21759_708+21794dupAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269751	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0061 a0001c0001t0009g0061	1	240	0.0042	36	c.708 others(55): Show c.708+21656_708+21657insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIP_chr20_34236423_34274344	34258685	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	306	0.0033	36	c.-10 others(53): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA TGTATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1428646	C C	CAAATAAA others(29): Show CAAATAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03041.hp1 HG01169.hp1 HG03041.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0010c0041 a0002c0003 a0010c0041	a0002c0003t0001 a0010c0041t0001 a0002c0003t0001 a0010c0041t0001	a0002c0003t0001g0091 a0010c0041t0001g0161 a0002c0003t0001g0091 a0010c0041t0001g0161	2	185	0.0108	36	c.510 others(51): Show c.510-526_510-525insATTTATTTATTTATTTATTTATTTATTTAT TTATTT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12			chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665604	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	340	0.0029	36	c.-93 others(51): Show c.-93+186_-93+187insGTGTATATATATATATATATATATATATAT ATATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASNSD1_chr2_189656459_189675831	189665606	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	340	0.0029	36	c.-93 others(51): Show c.-93+188_-93+189insGTGTATATATATATATATATATATATATAT ATATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASPA_chr17_3470997_3508405	3506988	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG02886.hp2 others(3): Show HG02622.hp1 HG02818.hp1 HG02886.hp2 HG03130.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0016 a0001c0001t0037 a0001c0001t0014 a0001c0001t0016 a0001c0001t0037	a0001c0001t0014g0141 a0001c0001t0014g0270 a0001c0001t0014g0329 others(3): Show a0001c0001t0014g0141 a0001c0001t0014g0270 a0001c0001t0014g0329 a0001c0001t0016g0339 a0001c0001t0016g0353 a0001c0001t0037g0340	6	450	0.0133	36	c.79 others(47): Show c.7900_*7901insAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAG GG	ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding		3584		chr17	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(29): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02647.hp1 HG02886.hp1 others(2): Show HG01975.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	5	464	0.0108	36	c.42 others(47): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA21309.hp1 HG01884.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0011 a0002c0004t0006 a0001c0001t0011 a0002c0004t0006	a0001c0001t0011g0002 a0002c0004t0006g0003 a0001c0001t0011g0002 a0002c0004t0006g0003	2	102	0.0196	36	c.280 others(55): Show c.2806+6798_2806+6799insTATATATATATATATATATATATATA CACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp1 HG01258.hp2 others(2): Show HG00735.hp2 HG01256.hp1 HG01258.hp2 HG01934.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0022 a0001c0001 a0001c0002 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0022t0001	a0001c0001t0001g0054 a0001c0001t0002g0040 a0001c0002t0001g0067 others(2): Show a0001c0001t0001g0054 a0001c0001t0002g0040 a0001c0002t0001g0067 a0001c0002t0004g0029 a0001c0022t0001g0020	5	102	0.0490	36	c.159 others(55): Show c.1591+4561_1591+4562insACACACACACACACACACACACACAC ACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0047	1	102	0.0098	36	c.127 others(55): Show c.1277-8999_1277-8998insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060434	G G	GGGAGGGA others(29): Show GGGAGGGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0081 a0001c0008t0005g0081	1	102	0.0098	36	c.127 others(57): Show c.1277-20470_1277-20469insTTCTTTCTTTCTTTCTTTCTTTCT CTCTCTCCCTCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060442	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0073 a0001c0008t0005g0073	1	102	0.0098	36	c.127 others(57): Show c.1277-20478_1277-20477insTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(29): Show GTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19066.hp1 HG01261.hp2 NA19066.hp1	a0001 a0007 a0001 a0007	a0001c0022 a0007c0018 a0001c0022 a0007c0018	a0001c0022t0001 a0007c0018t0003 a0001c0022t0001 a0007c0018t0003	a0001c0022t0001g0020 a0007c0018t0003g0031 a0001c0022t0001g0020 a0007c0018t0003g0031	2	102	0.0196	36	c.631 others(55): Show c.631-10794_631-10793insTATATATATATATATATATATATATA TATATACATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp1 others(4): Show HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01952.hp1 HG02886.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0001c0001t0038 a0001c0001t0043	a0001c0001t0001g0183 a0001c0001t0003g0013 a0001c0001t0003g0014 others(4): Show a0001c0001t0001g0183 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0028g0165 a0001c0001t0038g0041 a0001c0001t0043g0175	7	222	0.0315	36	c.58- others(51): Show c.58-3502_58-3501insATATATATATATATATATATATATATATAT ATATAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG02896.hp1 others(7): Show HG02559.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG04199.hp2 HG04204.hp2 NA19079.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0020 a0002c0002 a0001c0001 a0001c0020 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0029 a0001c0001t0038 a0001c0020t0001 a0002c0002t0005	a0001c0001t0001g0127 a0001c0001t0006g0123 a0001c0001t0008g0023 others(7): Show a0001c0001t0001g0127 a0001c0001t0006g0123 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0012g0016 a0001c0001t0012g0017 a0001c0001t0029g0029 a0001c0001t0038g0183 a0001c0020t0001g0155 a0002c0002t0005g0129	10	220	0.0455	36	c.55- others(51): Show c.55-5799_55-5798insTATATATATATATATATATATATATATATA TATATA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTTTATAT others(29): Show GTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02976.hp1 others(2): Show HG01891.hp2 HG02109.hp2 HG02976.hp1 NA18959.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0004 a0001c0001t0010 a0004c0004t0005 others(2): Show a0001c0001t0004 a0001c0001t0010 a0004c0004t0005 a0004c0004t0032 a0004c0004t0045	a0001c0001t0004g0141 a0001c0001t0010g0156 a0004c0004t0005g0046 others(2): Show a0001c0001t0004g0141 a0001c0001t0010g0156 a0004c0004t0005g0046 a0004c0004t0032g0059 a0004c0004t0045g0058	5	220	0.0227	36	c.55- others(51): Show c.55-5808_55-5807insTTATATATATATATATATATATATATATAT ATATAT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87798623	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01258.hp2 others(2): Show HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 others(2): Show a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0095	5	360	0.0139	36	c.163 others(53): Show c.163-5869_163-5868insACACACACACACACACACACACACACAC ACACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02922.hp1 NA18966.hp2 others(2): Show HG01074.hp1 HG02922.hp1 NA18966.hp2 NA19030.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0125 a0001c0001t0003g0031 a0001c0001t0003g0081 others(2): Show a0001c0001t0002g0125 a0001c0001t0003g0031 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0130	5	360	0.0139	36	c.163 others(53): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0243 a0001c0002t0007g0244 a0001c0002t0007g0243 a0001c0002t0007g0244	2	246	0.0081	36	c.66 others(47): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTTCCTTCCTTCCTTC CT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23818228	A A	AGAGAGGG others(29): Show AGAGAGGGAGAGGGAGGGAGGGAGGGAAGAAGAGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0015 a0001c0016 a0004c0007 a0005c0013 a0006c0011 a0007c0010 a0008c0012 a0009c0014 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0003 a0001c0004t0001 a0001c0006t0001 a0001c0008t0002 a0001c0015t0002 a0001c0016t0001 a0004c0007t0002 a0005c0013t0002 a0006c0011t0001 a0007c0010t0002 a0008c0012t0001 a0009c0014t0002 a0010c0009t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(181): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0106 a0001c0001t0002g0142 a0001c0001t0005g0058 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0099 a0001c0001t0008g0001 a0001c0001t0009g0002 a0001c0001t0010g0053 a0001c0001t0011g0212 a0001c0001t0013g0122 a0001c0001t0014g0098 a0001c0001t0015g0246 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0004t0001g0166 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0192 a0001c0004t0001g0220 a0001c0006t0001g0180 a0001c0006t0001g0181 a0001c0008t0002g0003 a0001c0015t0002g0079 a0001c0016t0001g0178 a0004c0007t0002g0050 a0004c0007t0002g0062 a0005c0013t0002g0027 a0006c0011t0001g0189 a0007c0010t0002g0083 a0008c0012t0001g0190 a0009c0014t0002g0057 a0010c0009t0002g0004	184	246	0.7480	36	c.226 others(55): Show c.2267+1518_2267+1519insCCTCTCTTCTTCCCTCCCTCCCTCCC TCTCCCTCTC	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	17/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0098 a0001c0001t0014g0098	1	246	0.0041	36	c.902 others(53): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0251 a0002c0003t0001g0251	1	278	0.0036	36	c.164 others(55): Show c.1646+1524_1646+1525insATATATATATATATATATATATATAT ATTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	278	0.0036	36	c.320 others(53): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATCAY_chr19_3875685_3933082	3914235	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0207 a0001c0001t0044g0207	1	384	0.0026	36	c.965 others(51): Show c.965+394_965+395insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	354	0.0028	36	c.13 others(47): Show c.1391_*1392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding		1311		chr22	TogoVar
ATF7_chr12_53507054_53631382	53587366	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18994.hp2 NA19005.hp1 HG00673.hp2 NA18994.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0027g0194 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0027g0194	3	330	0.0091	36	c.48+ others(53): Show c.48+13586_48+13587insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATG10_chr5_81967023_82261133	81993336	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0160 a0001c0001t0009g0160	1	226	0.0044	36	c.108 others(53): Show c.108+5661_108+5662insCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82118387	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	226	0.0044	36	c.217 others(55): Show c.217-45994_217-45993insATATATATATATATATATATATATAT ATATATATAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82121941	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	226	0.0044	36	c.217 others(55): Show c.217-42439_217-42438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02074.hp1 NA18998.hp2 HG01993.hp2 HG02074.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0040 a0001c0001t0002g0216 a0001c0002t0001g0230 a0001c0001t0001g0040 a0001c0001t0002g0216 a0001c0002t0001g0230	3	292	0.0103	36	c.208 others(57): Show c.2080-57419_2080-57418insATATATATATATATATATATATAT ATATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL1_chr14_50555145_50638045	50598925	A A	ACTGTAAT others(29): Show ACTGTAATAGAAGTAATCTCCAGATGGATCAAAGAAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01433.hp1 HG02145.hp2 others(6): Show HG01361.hp1 HG01433.hp1 HG02145.hp2 HG02280.hp2 HG02572.hp1 HG02896.hp1 HG03041.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0004t0004 a0001c0008t0001 a0001c0001t0001 a0001c0004t0004 a0001c0008t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(6): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0004t0004g0142 a0001c0008t0001g0082	9	320	0.0281	36	c.630 others(53): Show c.630+3294_630+3329dupCTGTAATAGAAGTAATCTCCAGATGGAT CAAAGAAC	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ATP10B_chr5_160558120_160857211	160653429	T T	TATATTAC others(29): Show TATATTACATATACATACATATATACATATATATTAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG03041.hp2 others(4): Show HG02257.hp2 HG02818.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0002t0010	a0001c0001t0001g0228 a0001c0001t0002g0004 a0001c0001t0002g0171 others(4): Show a0001c0001t0001g0228 a0001c0001t0002g0004 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0198 a0001c0001t0023g0027 a0001c0002t0010g0003	7	236	0.0297	36	c.676 others(53): Show c.676-4174_676-4173insGTAATATATATGTATATATGTATGTATA TGTAATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	236	0.0042	36	c.-20 others(57): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112756795	C C	CCGGGGCC others(29): Show CCGGGGCCTGCTCCCAGCGAGGGGTCTGCTCCCAGCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00738.hp2 others(14): Show HG00597.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01243.hp2 HG01255.hp2 HG01496.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG03540.hp1 HG04184.hp1 NA19043.hp1 NA19077.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0020 a0002c0003 a0002c0010 a0003c0012 a0010c0037	a0001c0001t0001 a0001c0002t0014 a0001c0002t0015 others(8): Show a0001c0001t0001 a0001c0002t0014 a0001c0002t0015 a0001c0002t0032 a0001c0005t0020 a0001c0006t0001 a0001c0020t0068 a0002c0003t0002 a0002c0010t0022 a0003c0012t0005 a0010c0037t0001	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0108 others(14): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0151 a0001c0002t0014g0197 a0001c0002t0015g0054 a0001c0002t0032g0179 a0001c0005t0020g0144 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0020t0068g0055 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0010t0022g0072 a0003c0012t0005g0207 a0010c0037t0001g0076	17	254	0.0669	36	c.40- others(53): Show c.40-28321_40-28286dupAGGGGTCTGCTCCCAGCACGGGGCCTGC TCCCAGCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112756814	A A	AGGGGTCT others(29): Show AGGGGTCTGCTCCCAGCACGGGGCCTGCTCCCAGCGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp2 HG03453.hp1 others(2): Show HG02055.hp2 HG03041.hp2 HG03453.hp1 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0002t0014 a0001c0002t0039 others(1): Show a0001c0001t0001 a0001c0002t0014 a0001c0002t0039 a0001c0016t0004	a0001c0001t0001g0146 a0001c0002t0014g0213 a0001c0002t0039g0212 others(2): Show a0001c0001t0001g0146 a0001c0002t0014g0213 a0001c0002t0039g0212 a0001c0016t0004g0214 a0001c0016t0004g0215	5	254	0.0197	36	c.40- others(53): Show c.40-28301_40-28266dupGGGCCTGCTCCCAGCGCGGGGTCTGCTC CCAGCACG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112756849	G G	GCGGGGCC others(29): Show GCGGGGCCTGCTCCCAGCGAGGGGTCTGCTCCCAGCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02976.hp1 HG03225.hp2 HG01261.hp1 HG02976.hp1 HG03225.hp2	a0001 a0014 a0001 a0014	a0001c0014 a0014c0023 a0001c0014 a0014c0023	a0001c0014t0003 a0001c0014t0043 a0014c0023t0002 a0001c0014t0003 a0001c0014t0043 a0014c0023t0002	a0001c0014t0003g0178 a0001c0014t0043g0056 a0014c0023t0002g0064 a0001c0014t0003g0178 a0001c0014t0043g0056 a0014c0023t0002g0064	3	254	0.0118	36	c.40- others(53): Show c.40-28281_40-28280insCCTGCTCCCAGCGAGGGGTCTGCTCCCA GCACGGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112756885	A A	ACGGGGCC others(29): Show ACGGGGCCTGCTCCCAGCCCGGGGCCTGCTCCCAGCG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18971.hp2 NA19007.hp1 HG02056.hp1 NA18971.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0040 a0001c0002 a0001c0040	a0001c0002t0012 a0001c0040t0001 a0001c0002t0012 a0001c0040t0001	a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0040t0001g0216 a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0040t0001g0216	3	254	0.0118	36	c.40- others(53): Show c.40-28233_40-28232insCCGGGGCCTGCTCCCAGCGCGGGGCCTG CTCCCAGC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767309	G G	GGGGGTGT others(29): Show GGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0195 a0001c0004t0002g0195	1	254	0.0039	36	c.40- others(53): Show c.40-17822_40-17821insTGTTGGGGGCCCCTGTGGGAAGGTGGGG AGATGGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11C_chrX_139721348_139938053	139769281	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	234	0.0043	36	c.221 others(53): Show c.2217-883_2217-848dupATATATATATATATATATATATATATAT ATATATAT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	19/29			chrX	TogoVar
ATP12A_chr13_24675408_24717472	24708946	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0048 a0001c0005t0001g0048	1	382	0.0026	36	c.249 others(53): Show c.2494-401_2494-400insAGAAAGAAAGGAAGGAAGGAAGAAAGAA AGAAAGAA	ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2A3_chr17_3918873_3969437	3958823	C C	CACACACA others(29): Show CACACACATATATATACACATATATATATACACATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00597.hp1 others(100): Show HG00323.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18970.hp2 NA18979.hp1 NA18982.hp2 NA18993.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0003 a0001c0004 a0001c0005 others(17): Show a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0012 a0001c0020 a0001c0023 a0001c0025 a0001c0027 a0001c0028 a0001c0029 a0001c0031 a0001c0032 a0002c0006 a0002c0021 a0002c0022 a0002c0026 a0003c0013 a0006c0014	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(36): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0020 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0032 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0027 a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 a0001c0010t0002 a0001c0010t0008 a0001c0012t0001 a0001c0012t0037 a0001c0020t0002 a0001c0023t0002 a0001c0025t0001 a0001c0027t0002 a0001c0028t0006 a0001c0029t0005 a0001c0031t0001 a0001c0032t0029 a0002c0006t0001 a0002c0006t0010 a0002c0021t0001 a0002c0022t0001 a0002c0026t0001 a0003c0013t0001 a0003c0013t0009 a0006c0014t0001	a0001c0003t0001g0069 a0001c0003t0001g0075 a0001c0003t0001g0101 others(95): Show a0001c0003t0001g0069 a0001c0003t0001g0075 a0001c0003t0001g0101 a0001c0003t0001g0108 a0001c0003t0001g0113 a0001c0003t0002g0064 a0001c0003t0002g0070 a0001c0003t0002g0096 a0001c0003t0002g0098 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0071 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0077 a0001c0003t0003g0078 a0001c0003t0003g0103 a0001c0003t0003g0107 a0001c0003t0003g0110 a0001c0003t0004g0076 a0001c0003t0004g0095 a0001c0003t0005g0060 a0001c0003t0005g0072 a0001c0003t0005g0114 a0001c0003t0020g0111 a0001c0004t0001g0016 a0001c0004t0001g0035 a0001c0004t0001g0037 a0001c0004t0001g0063 a0001c0004t0001g0081 a0001c0004t0001g0112 a0001c0004t0002g0062 a0001c0004t0002g0089 a0001c0004t0004g0082 a0001c0004t0004g0084 a0001c0004t0004g0087 a0001c0004t0004g0097 a0001c0004t0004g0099 a0001c0004t0004g0100 a0001c0004t0004g0102 a0001c0004t0005g0079 a0001c0004t0006g0083 a0001c0004t0006g0088 a0001c0004t0006g0106 a0001c0004t0032g0109 a0001c0005t0001g0006 a0001c0005t0001g0023 a0001c0005t0001g0026 a0001c0005t0001g0028 a0001c0005t0001g0080 a0001c0005t0002g0002 a0001c0005t0002g0005 a0001c0005t0002g0024 a0001c0005t0002g0025 a0001c0005t0002g0029 a0001c0005t0002g0093 a0001c0005t0004g0094 a0001c0005t0027g0032 a0001c0009t0001g0038 a0001c0009t0001g0065 a0001c0009t0001g0085 a0001c0009t0001g0091 a0001c0009t0001g0092 a0001c0009t0001g0104 a0001c0009t0003g0086 a0001c0010t0001g0027 a0001c0010t0001g0030 a0001c0010t0002g0041 a0001c0010t0008g0116 a0001c0012t0001g0039 a0001c0012t0001g0040 a0001c0012t0037g0309 a0001c0020t0002g0053 a0001c0023t0002g0115 a0001c0025t0001g0036 a0001c0027t0002g0033 a0001c0028t0006g0061 a0001c0029t0005g0022 a0001c0031t0001g0090 a0001c0032t0029g0049 a0002c0006t0001g0004 a0002c0006t0001g0047 a0002c0006t0001g0050 a0002c0006t0001g0051 a0002c0006t0001g0054 a0002c0006t0001g0055 a0002c0006t0001g0056 a0002c0006t0010g0003 a0002c0006t0010g0048 a0002c0021t0001g0052 a0002c0022t0001g0034 a0002c0026t0001g0031 a0003c0013t0001g0018 a0003c0013t0009g0017 a0003c0013t0009g0019 a0006c0014t0001g0058 a0006c0014t0001g0059	103	332	0.3102	36	c.119 others(53): Show c.119-5114_119-5113insATATGTGTATATATATATGTGTATATAT ATGTGTGT	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	1/20			chr17	TogoVar
ATP2B1_chr12_89583049_89713838	89677958	A A	ATATATAT others(29): Show ATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	332	0.0030	36	c.-22 others(57): Show c.-221-21852_-221-21851insCATATATATATATATATATATATA TACATATATATA	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0173 a0001c0010t0005g0173	1	267	0.0038	36	c.42 others(47): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAG GG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	267	0.0038	36	c.42 others(47): Show c.4283_*4284insAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA19063.hp1 NA19084.hp2 NA18957.hp1 NA19063.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0029 a0001c0002t0030 a0001c0002t0002 a0001c0002t0029 a0001c0002t0030	a0001c0002t0002g0169 a0001c0002t0029g0019 a0001c0002t0030g0018 a0001c0002t0002g0169 a0001c0002t0029g0019 a0001c0002t0030g0018	3	267	0.0112	36	c.42 others(47): Show c.4283_*4284insAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar

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