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
ATG2B_chr14_96274195_96368341	96308229	TACATATA others(19): Show TACATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20129.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0024 a0001c0012t0050 a0001c0012t0024 a0001c0012t0050	a0001c0012t0024g0093 a0001c0012t0050g0095 a0001c0012t0024g0093 a0001c0012t0050g0095	2	356	0.0056	-26	c.430 others(45): Show c.4303+1198_4303+1223delGTGTATATATATATATATATATATGT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG4A_chrX_108086778_108159671	108148020	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG02451.hp2 others(17): Show HG00558.hp1 HG01081.hp2 HG02451.hp2 HG02486.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18944.hp1 NA18984.hp1 NA19003.hp2 NA19007.hp1 NA19030.hp2 NA19056.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0159 others(17): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0005g0163	20	249	0.0803	-26	c.815 others(43): Show c.815-2101_815-2076delATATATATATATATATATATATATAT	ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATL2_chr2_38288954_38382273	38325673	CACACACA others(19): Show CACACACACACACACACACACACCAGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(2): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG03098.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001	a0001c0001t0004g0109 a0001c0001t0006g0142 a0001c0001t0006g0144 others(2): Show a0001c0001t0004g0109 a0001c0001t0006g0142 a0001c0001t0006g0144 a0002c0002t0001g0177 a0002c0002t0001g0228	5	236	0.0212	-26	c.364 others(43): Show c.364-6680_364-6655delACTGGTGTGTGTGTGTGTGTGTGTGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP10B_chr5_160558120_160857211	160652889	TTATATAA others(19): Show TTATATAATATATTATATATACATGTA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG02027.hp2 others(17): Show HG00438.hp2 HG00558.hp1 HG02027.hp2 HG02145.hp1 HG02559.hp2 HG02572.hp1 HG02818.hp2 HG03225.hp1 HG03225.hp2 HG03834.hp2 NA18522.hp1 NA18941.hp2 NA18954.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp2 NA19058.hp1 NA19083.hp2 NA19240.hp2 NA21309.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0018	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0003c0007 a0004c0009 a0009c0018 a0018c0036	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0007 a0001c0011t0035 a0003c0007t0013 a0003c0007t0015 a0004c0009t0001 a0009c0018t0021 a0009c0018t0034 a0018c0036t0001	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0001g0143 others(17): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0228 a0001c0001t0003g0092 a0001c0001t0003g0095 a0001c0001t0004g0058 a0001c0002t0007g0153 a0001c0011t0035g0195 a0003c0007t0013g0189 a0003c0007t0013g0197 a0003c0007t0013g0222 a0003c0007t0015g0209 a0003c0007t0015g0215 a0004c0009t0001g0059 a0004c0009t0001g0114 a0009c0018t0021g0205 a0009c0018t0034g0207 a0018c0036t0001g0081	20	236	0.0848	-26	c.676 others(43): Show c.676-3659_676-3634delTACATGTATATATAATATATTATATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160755832	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0045 a0001c0008t0045	a0001c0008t0045g0026 a0001c0008t0045g0026	1	236	0.0042	-26	c.-33 others(47): Show c.-331+29701_-331+29726delATATATATATATATATATATTTTT TT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160783572	CACACACA others(19): Show CACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00673.hp2 others(18): Show HG00438.hp1 HG00558.hp2 HG00673.hp2 HG01192.hp1 HG02074.hp1 HG02155.hp2 HG02486.hp1 HG03017.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18986.hp2 NA18990.hp2 NA19004.hp2 NA19009.hp2 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19084.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0021	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0006c0016 a0021c0034	a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 a0001c0006t0024 a0002c0004t0004 a0006c0016t0012 a0021c0034t0004	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(18): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0001t0001g0137 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0230 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0002t0007g0167 a0001c0006t0024g0109 a0002c0004t0004g0231 a0006c0016t0012g0164 a0021c0034t0004g0055	21	236	0.0890	-26	c.-33 others(45): Show c.-331+1961_-331+1986delATGTGTGTGTGTGTGTGTGTGTGTGT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160822989	CATATATA others(19): Show CATATATATATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp1 HG01261.hp1 others(7): Show HG01123.hp2 HG01243.hp1 HG01261.hp1 HG02622.hp2 HG02818.hp2 HG03130.hp1 HG03704.hp1 HG04228.hp2 NA19060.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0014	a0001c0001 a0001c0002 a0001c0033 others(4): Show a0001c0001 a0001c0002 a0001c0033 a0002c0013 a0003c0007 a0009c0018 a0014c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0010 a0001c0033t0016 a0002c0013t0043 a0003c0007t0015 a0009c0018t0034 a0014c0025t0033	a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0002g0206 others(7): Show a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0002g0206 a0001c0001t0009g0208 a0001c0002t0010g0211 a0001c0033t0016g0210 a0002c0013t0043g0181 a0003c0007t0015g0209 a0009c0018t0034g0207 a0014c0025t0033g0212	10	236	0.0424	-26	c.-57 others(47): Show c.-576+28926_-576+28951delATATATATATATATGTATATATAT AT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	1/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112686814	AGATAATC others(19): Show AGATAATCCCCCATAAATTCTCTGTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	254	0.0039	-26	c.-36 others(37): Show c.-3602_-3577delGATAATCCCCCATAAATTCTCTGTAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding		3223		chr13	TogoVar
ATP11A_chr13_112685038_112892168	112731303	GTTAGCTT others(19): Show GTTAGCTTTATTACTAAAGAAAACAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02809.hp1 others(11): Show HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009 a0001c0019 a0001c0029 a0001c0046	a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 others(6): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 a0001c0004t0042 a0001c0006t0004 a0001c0009t0003 a0001c0019t0008 a0001c0029t0051 a0001c0046t0016	a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 others(11): Show a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0042g0057 a0001c0006t0004g0036 a0001c0006t0004g0114 a0001c0009t0003g0218 a0001c0019t0008g0051 a0001c0029t0051g0046 a0001c0046t0016g0062	14	254	0.0551	-26	c.39+ others(43): Show c.39+40875_39+40900delTTAGCTTTATTACTAAAGAAAACAGA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804068	CACCTCCC others(19): Show CACCTCCCTCCCCCCATCCCCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0033 a0002c0003t0033	a0002c0003t0033g0031 a0002c0003t0033g0031	1	254	0.0039	-26	c.163 others(41): Show c.163-888_163-863delACCTCCCTCCCCCCATCCCCTCTCTG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP11B_chr3_182788504_182926629	182924788	GATAATAC others(19): Show GATAATACAGTGAATTACCTTGGCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	324	0.0031	-26	c.66 others(37): Show c.6685_*6710delATAATACAGTGAATTACCTTGGCTGA	ATP11B	ENSG00000058063.16	transcript	ENST00000323116.10	protein_coding		3160		chr3	TogoVar
ATP11C_chrX_139721348_139938053	139769281	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02257.hp2 others(7): Show HG01496.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02630.hp2 HG02809.hp2 HG02965.hp1 HG03098.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0031	a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0034 others(7): Show a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0034 a0001c0001t0004g0062 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0004g0208 a0001c0001t0021g0030 a0001c0001t0031g0218	10	234	0.0427	-26	c.221 others(43): Show c.2217-873_2217-848delATATATATATATATATATATATATAT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	19/29			chrX	TogoVar
ATP11C_chrX_139721348_139938053	139922223	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01175.hp1 HG01496.hp1 others(17): Show HG00621.hp1 HG01175.hp1 HG01496.hp1 HG01496.hp2 HG01981.hp1 HG02109.hp1 HG02293.hp2 HG02572.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp2 HG03098.hp1 HG03209.hp1 HG03831.hp1 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18969.hp1 NA19043.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0021 a0001c0001t0031 a0001c0001t0033 a0001c0008t0020	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 others(17): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0009g0069 a0001c0001t0010g0214 a0001c0001t0011g0061 a0001c0001t0019g0031 a0001c0001t0021g0030 a0001c0001t0031g0218 a0001c0001t0033g0225 a0001c0008t0020g0025	20	234	0.0855	-26	c.27+ others(41): Show c.27+9767_27+9792delATATATATATATATATATATATATAT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29			chrX	TogoVar
ATP13A1_chr19_19640198_19668676	19661112	AAAAAACA others(19): Show AAAAAACAAAACAAAAACAAAAACAAC	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	380	0.0026	-26	c.397 others(43): Show c.397-1151_397-1126delGTTGTTTTTGTTTTTGTTTTGTTTTT	ATP13A1	ENSG00000105726.17	transcript	ENST00000357324.11	protein_coding	1/25			chr19	TogoVar
ATP2A3_chr17_3918873_3969437	3966363	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0017 a0001c0042t0017	a0001c0042t0017g0315 a0001c0042t0017g0315	1	332	0.0030	-26	c.-20 others(37): Show c.-2098_-2073delAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding		1927		chr17	TogoVar
ATP5F1A_chr18_46075248_46103296	46095833	GACTGGGC others(19): Show GACTGGGCAGTAAATAAATATATATTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(86): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp2 HG01109.hp1 HG01261.hp1 HG01934.hp1 HG01952.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp2 HG02738.hp2 HG03834.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0006 a0001c0001 a0001c0004 a0004c0006	a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 others(25): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0076 a0001c0001t0077 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0004t0002 a0004c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0018 others(56): Show a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0009g0021 a0001c0001t0009g0048 a0001c0001t0009g0266 a0001c0001t0009g0268 a0001c0001t0009g0269 a0001c0001t0019g0049 a0001c0001t0019g0261 a0001c0001t0019g0264 a0001c0001t0021g0036 a0001c0001t0021g0148 a0001c0001t0022g0143 a0001c0001t0022g0162 a0001c0001t0022g0172 a0001c0001t0023g0144 a0001c0001t0023g0168 a0001c0001t0023g0185 a0001c0001t0028g0034 a0001c0001t0030g0035 a0001c0001t0031g0164 a0001c0001t0031g0181 a0001c0001t0076g0186 a0001c0001t0077g0174 a0001c0001t0085g0165 a0001c0001t0086g0166 a0001c0001t0087g0163 a0001c0001t0090g0167 a0001c0001t0091g0183 a0001c0001t0092g0175 a0001c0001t0095g0177 a0001c0001t0096g0173 a0001c0001t0098g0146 a0001c0001t0128g0169 a0001c0001t0129g0147 a0001c0001t0130g0262 a0001c0001t0131g0263 a0001c0001t0132g0265 a0001c0001t0133g0267 a0001c0004t0002g0022 a0001c0004t0002g0051 a0004c0006t0002g0050	89	390	0.2282	-26	c.61- others(39): Show c.61-728_61-703delAAATATATATTTATTTACTGCCCAGT	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	1/11			chr18	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784227	TATATATA others(19): Show TATATATACGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01074.hp1 others(23): Show HG00639.hp2 HG00642.hp1 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG02486.hp2 HG02615.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03516.hp2 HG03688.hp1 NA18747.hp1 NA18942.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18985.hp1 NA18985.hp2 NA19065.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0015	a0001c0001 a0001c0007 a0001c0008 others(10): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0002c0003 a0002c0016 a0002c0027 a0003c0004 a0003c0033 a0004c0015 a0005c0006 a0005c0034 a0015c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0007t0003 a0001c0008t0001 a0002c0002t0001 a0002c0003t0001 a0002c0016t0001 a0002c0027t0001 a0003c0004t0001 a0003c0033t0004 a0004c0015t0001 a0005c0006t0001 a0005c0034t0001 a0015c0045t0001	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0024 others(23): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0365 a0001c0001t0002g0030 a0001c0001t0014g0376 a0001c0007t0003g0009 a0001c0008t0001g0007 a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0003t0001g0004 a0002c0003t0001g0019 a0002c0016t0001g0016 a0002c0016t0001g0017 a0002c0027t0001g0005 a0003c0004t0001g0022 a0003c0033t0004g0364 a0004c0015t0001g0002 a0004c0015t0001g0085 a0005c0006t0001g0015 a0005c0006t0001g0031 a0005c0034t0001g0008 a0015c0045t0001g0021	26	376	0.0692	-26	c.-18 others(43): Show c.-18+1905_-18+1930delGTATATATATATATATACGTATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145229	AAGAAAGA others(19): Show AAGAAAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02056.hp1 HG02129.hp1 others(12): Show HG01243.hp2 HG02056.hp1 HG02129.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp1 NA18942.hp1 NA18950.hp1 NA18956.hp1 NA18964.hp2 NA18970.hp1 NA18998.hp2 NA19057.hp1 NA19077.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0090 others(12): Show a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0090 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0003g0139 a0001c0001t0003g0156 a0001c0001t0003g0208 a0001c0001t0003g0222	15	360	0.0417	-26	c.639 others(43): Show c.639+2283_639+2308delGAGAGAGAGAGAGAGAGAGAGAAAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	440	0.0046	-26	c.174 others(43): Show c.174+2004_174+2029delTATATATATATATATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631662	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG00733.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0270 a0001c0001t0002g0258 a0001c0001t0002g0270	2	370	0.0054	-26	c.-30 others(37): Show c.-3053_-3028delTATATATATATATATATACACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2914		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631692	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00733.hp1 others(23): Show HG00140.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01517.hp1 HG01981.hp1 HG02040.hp1 HG02486.hp1 HG02683.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03834.hp1 NA19009.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0002c0003t0001g0027	26	370	0.0703	-26	c.-30 others(37): Show c.-3083_-3058delAAAAAAAAAAAATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2944		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631696	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	370	0.0027	-26	c.-30 others(37): Show c.-3087_-3062delAAAAAAAAAAAAAAAATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2948		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(240): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0005 a0004c0007 others(1): Show a0001c0001 a0001c0005 a0004c0007 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0005t0001 a0004c0007t0002 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(154): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0041 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0297 a0001c0001t0003g0303 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0112 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0199 a0001c0001t0005g0132 a0001c0001t0005g0163 a0001c0001t0007g0111 a0001c0001t0007g0120 a0001c0001t0008g0043 a0001c0001t0009g0044 a0001c0001t0010g0170 a0001c0001t0011g0279 a0001c0005t0001g0270 a0004c0007t0002g0246 a0005c0009t0001g0218	243	410	0.5927	-26	c.-10 others(45): Show c.-101-5972_-101-5947delCACACACACACACACACACACACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546451	CATATATA others(19): Show CATATATATATATATATATATATGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02886.hp2 HG03139.hp1 others(7): Show HG00741.hp2 HG02886.hp2 HG03139.hp1 HG03490.hp2 HG03492.hp1 HG06807.hp2 NA19010.hp2 NA19057.hp1 NA19060.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0070 a0001c0001t0003g0013 a0001c0001t0003g0025 others(7): Show a0001c0001t0001g0070 a0001c0001t0003g0013 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0005g0136 a0001c0001t0005g0149 a0001c0001t0005g0160 a0001c0001t0005g0172	10	410	0.0244	-26	c.-46 others(37): Show c.-4634_-4609delACACATATATATATATATATATATAT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3875		chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546507	TATATGTA others(19): Show TATATGTATATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG02280.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0201 a0001c0001t0003g0184 a0001c0001t0003g0201	2	410	0.0049	-26	c.-46 others(37): Show c.-4690_-4665delGTATATATATATATGTATATACATAT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3931		chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	286	0.0035	-26	c.127 others(43): Show c.1277+844_1277+869delATATATATATATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA20129.hp2 HG03130.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0050 a0001c0007t0001 a0001c0001t0050 a0001c0007t0001	a0001c0001t0050g0025 a0001c0007t0001g0081 a0001c0001t0050g0025 a0001c0007t0001g0081	2	122	0.0164	-26	c.275 others(45): Show c.2754+1504_2754+1529delATATATATATATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57661650	CACATATA others(19): Show CACATATATGTATGTGTGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0306 a0001c0001t0025g0306	1	314	0.0032	-26	c.241 others(43): Show c.2419-214_2419-189delATATACATACACACATACATATATGT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	21/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57730814	TATATATA others(19): Show TATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(306): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0012	a0001c0001 a0001c0005 a0001c0006 others(15): Show a0001c0001 a0001c0005 a0001c0006 a0001c0012 a0001c0014 a0001c0016 a0001c0018 a0001c0019 a0002c0002 a0003c0003 a0004c0004 a0004c0008 a0005c0007 a0007c0011 a0008c0013 a0010c0010 a0011c0015 a0012c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0005t0016 a0001c0006t0001 a0001c0012t0035 a0001c0014t0008 a0001c0016t0045 a0001c0018t0007 a0001c0019t0031 a0002c0002t0014 a0002c0002t0019 a0002c0002t0037 a0003c0003t0018 a0003c0003t0022 a0003c0003t0024 a0003c0003t0042 a0004c0004t0034 a0004c0004t0046 a0004c0004t0047 a0004c0008t0004 a0005c0007t0030 a0007c0011t0008 a0008c0013t0017 a0010c0010t0006 a0011c0015t0010 a0012c0020t0012	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(306): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0258 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0269 a0001c0001t0003g0273 a0001c0001t0003g0277 a0001c0001t0003g0281 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0303 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0034 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0055 a0001c0001t0004g0063 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0004g0094 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0004g0113 a0001c0001t0004g0120 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0138 a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0017 a0001c0001t0005g0025 a0001c0001t0005g0029 a0001c0001t0005g0036 a0001c0001t0005g0039 a0001c0001t0005g0042 a0001c0001t0005g0046 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0085 a0001c0001t0005g0118 a0001c0001t0005g0127 a0001c0001t0005g0132 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0045 a0001c0001t0006g0054 a0001c0001t0006g0057 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0074 a0001c0001t0006g0082 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0095 a0001c0001t0006g0106 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0007g0196 a0001c0001t0007g0206 a0001c0001t0007g0210 a0001c0001t0007g0212 a0001c0001t0007g0219 a0001c0001t0007g0226 a0001c0001t0007g0247 a0001c0001t0007g0252 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0257 a0001c0001t0007g0263 a0001c0001t0007g0270 a0001c0001t0007g0280 a0001c0001t0007g0283 a0001c0001t0007g0300 a0001c0001t0007g0302 a0001c0001t0008g0020 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0037 a0001c0001t0008g0041 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0060 a0001c0001t0008g0079 a0001c0001t0008g0099 a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0008g0104 a0001c0001t0008g0134 a0001c0001t0008g0142 a0001c0001t0009g0199 a0001c0001t0009g0205 a0001c0001t0009g0215 a0001c0001t0009g0225 a0001c0001t0009g0230 a0001c0001t0009g0232 a0001c0001t0009g0235 a0001c0001t0009g0243 a0001c0001t0009g0246 a0001c0001t0009g0249 a0001c0001t0009g0253 a0001c0001t0009g0259 a0001c0001t0009g0262 a0001c0001t0009g0286 a0001c0001t0009g0288 a0001c0001t0010g0143 a0001c0001t0010g0146 a0001c0001t0010g0151 a0001c0001t0010g0152 a0001c0001t0010g0153 a0001c0001t0010g0157 a0001c0001t0010g0162 a0001c0001t0010g0164 a0001c0001t0010g0169 a0001c0001t0010g0170 a0001c0001t0010g0176 a0001c0001t0010g0186 a0001c0001t0010g0188 a0001c0001t0011g0145 a0001c0001t0011g0147 a0001c0001t0011g0154 a0001c0001t0011g0158 a0001c0001t0011g0161 a0001c0001t0011g0172 a0001c0001t0011g0174 a0001c0001t0011g0181 a0001c0001t0011g0184 a0001c0001t0011g0191 a0001c0001t0012g0150 a0001c0001t0012g0160 a0001c0001t0012g0178 a0001c0001t0012g0180 a0001c0001t0012g0183 a0001c0001t0012g0189 a0001c0001t0013g0216 a0001c0001t0013g0223 a0001c0001t0013g0231 a0001c0001t0013g0268 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0013g0294 a0001c0001t0015g0156 a0001c0001t0015g0163 a0001c0001t0015g0166 a0001c0001t0015g0177 a0001c0001t0015g0187 a0001c0001t0016g0021 a0001c0001t0016g0027 a0001c0001t0016g0040 a0001c0001t0017g0217 a0001c0001t0017g0222 a0001c0001t0017g0248 a0001c0001t0018g0296 a0001c0001t0018g0297 a0001c0001t0020g0165 a0001c0001t0020g0171 a0001c0001t0020g0193 a0001c0001t0021g0001 a0001c0001t0021g0002 a0001c0001t0023g0167 a0001c0001t0023g0168 a0001c0001t0025g0306 a0001c0001t0025g0313 a0001c0001t0026g0311 a0001c0001t0026g0314 a0001c0001t0027g0307 a0001c0001t0027g0310 a0001c0001t0028g0304 a0001c0001t0028g0308 a0001c0001t0029g0092 a0001c0001t0032g0005 a0001c0001t0036g0179 a0001c0001t0038g0190 a0001c0001t0039g0149 a0001c0001t0040g0148 a0001c0001t0043g0299 a0001c0001t0044g0197 a0001c0001t0048g0312 a0001c0001t0049g0309 a0001c0001t0050g0305 a0001c0005t0016g0056 a0001c0006t0001g0114 a0001c0012t0035g0008 a0001c0014t0008g0123 a0001c0016t0045g0278 a0001c0018t0007g0234 a0001c0019t0031g0062 a0002c0002t0014g0207 a0002c0002t0014g0229 a0002c0002t0014g0237 a0002c0002t0014g0266 a0002c0002t0014g0274 a0002c0002t0014g0293 a0002c0002t0019g0038 a0002c0002t0019g0048 a0002c0002t0019g0137 a0002c0002t0037g0175 a0003c0003t0018g0267 a0003c0003t0018g0282 a0003c0003t0022g0111 a0003c0003t0022g0135 a0003c0003t0024g0144 a0003c0003t0024g0185 a0003c0003t0042g0182 a0004c0004t0034g0088 a0004c0004t0046g0291 a0004c0004t0047g0204 a0004c0008t0004g0004 a0005c0007t0030g0007 a0007c0011t0008g0084 a0008c0013t0017g0260 a0010c0010t0006g0028 a0011c0015t0010g0155 a0012c0020t0012g0173	309	314	0.9841	-26	c.181 others(41): Show c.181+787_181+812delGTGTGTATATATATATATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57753936	AAAAAAAA others(19): Show AAAAAAAAAAAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02809.hp1 others(8): Show HG02451.hp1 HG02451.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03486.hp1 NA18906.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0028 a0001c0001t0049	a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0117 others(8): Show a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0003g0195 a0001c0001t0004g0087 a0001c0001t0008g0102 a0001c0001t0010g0151 a0001c0001t0028g0304 a0001c0001t0049g0309	11	314	0.0350	-26	c.-25 others(45): Show c.-25-22130_-25-22105delCTTTTCTTTCTTTCTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57787400	GCACTGCG others(19): Show GCACTGCGGGAGGAGCTCCATCTAGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01884.hp2 others(4): Show HG00735.hp2 HG01106.hp2 HG01884.hp2 HG02683.hp2 HG03831.hp2 HG06807.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0019 a0001c0001 a0001c0016 a0001c0019	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0016t0045 a0001c0019t0031	a0001c0001t0002g0279 a0001c0001t0007g0210 a0001c0001t0010g0157 others(4): Show a0001c0001t0002g0279 a0001c0001t0007g0210 a0001c0001t0010g0157 a0001c0001t0011g0158 a0001c0001t0015g0166 a0001c0016t0045g0278 a0001c0019t0031g0062	7	314	0.0223	-26	c.-26 others(45): Show c.-26+15572_-26+15597delTTCTAGATGGAGCTCCTCCCGCAGTG	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1779395	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGCGAGCGCAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0002 a0004c0016t0002	a0004c0016t0002g0123 a0004c0016t0002g0123	1	390	0.0026	-26	c.36 others(37): Show c.3607_*3632delCTCTTGCGCTCGCTCTCTCTCTCTCT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding		2679		chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50072962	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0017 a0008c0008t0017	a0008c0008t0017g0025 a0008c0008t0017g0025	1	254	0.0039	-26	c.87+ others(41): Show c.87+1139_87+1164delTATATATAGAGAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072964	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0027 a0015c0015t0027	a0015c0015t0027g0154 a0015c0015t0027g0154	1	254	0.0039	-26	c.87+ others(41): Show c.87+1137_87+1162delTATATATATAGAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072970	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	254	0.0039	-26	c.87+ others(41): Show c.87+1131_87+1156delTATATATATATATATAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073007	TATATATA others(19): Show TATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0005 a0004c0010t0005	a0004c0010t0005g0152 a0004c0010t0005g0152	1	254	0.0039	-26	c.87+ others(41): Show c.87+1094_87+1119delGTGTGTGTGTGTGTATATATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073009	TATATATA others(19): Show TATATATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02602.hp2 HG00438.hp1 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0077 a0002c0002t0001g0151 a0001c0001t0002g0077 a0002c0002t0001g0151	2	254	0.0079	-26	c.87+ others(41): Show c.87+1092_87+1117delGTGTGTGTGTGTGTGTATATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085877	TTATATAT others(19): Show TTATATATTTATATATGATATATATCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(36): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00609.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01168.hp2 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02056.hp2 HG02293.hp1 HG02735.hp2 HG03225.hp2 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18963.hp2 NA18969.hp1 NA18977.hp2 NA18983.hp2 NA19007.hp2 NA19054.hp1 NA19064.hp2 NA19065.hp1 NA19084.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0014	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0014c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0001 a0003c0003t0003 a0004c0004t0005 a0005c0005t0001 a0014c0016t0001	a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0211 others(35): Show a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0002g0008 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0210 a0001c0001t0003g0216 a0001c0001t0007g0007 a0001c0001t0007g0070 a0002c0002t0001g0118 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0202 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0002g0009 a0002c0002t0003g0204 a0002c0002t0003g0214 a0002c0002t0003g0221 a0003c0003t0001g0001 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0001g0222 a0003c0003t0003g0234 a0004c0004t0005g0248 a0005c0005t0001g0207 a0014c0016t0001g0212	39	254	0.1535	-26	c.29- others(43): Show c.29-11718_29-11693delTGATATATATCATATATAAATATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00639.hp2 others(60): Show HG00323.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04228.hp1 NA18612.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19010.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0013 others(2): Show a0001c0001 a0001c0006 a0001c0013 a0001c0017 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0026 a0001c0001t0038 a0001c0001t0042 a0001c0001t0045 a0001c0001t0049 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0074 a0001c0006t0003 a0001c0013t0002 a0001c0017t0001 a0002c0012t0002	a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0037 others(60): Show a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0241 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0205 a0001c0001t0006g0276 a0001c0001t0008g0072 a0001c0001t0009g0078 a0001c0001t0011g0101 a0001c0001t0011g0163 a0001c0001t0013g0051 a0001c0001t0013g0060 a0001c0001t0013g0128 a0001c0001t0017g0041 a0001c0001t0019g0248 a0001c0001t0019g0294 a0001c0001t0019g0308 a0001c0001t0026g0043 a0001c0001t0026g0285 a0001c0001t0038g0025 a0001c0001t0042g0148 a0001c0001t0045g0249 a0001c0001t0049g0310 a0001c0001t0055g0260 a0001c0001t0058g0076 a0001c0001t0059g0256 a0001c0001t0063g0115 a0001c0001t0074g0141 a0001c0006t0003g0231 a0001c0006t0003g0232 a0001c0013t0002g0105 a0001c0017t0001g0304 a0002c0012t0002g0240	63	312	0.2019	-26	c.166 others(45): Show c.1668+1248_1668+1273delTATATATATATATATATATATATAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0135 a0001c0003t0027g0135	1	312	0.0032	-26	c.166 others(45): Show c.1668+1246_1668+1271delTATATATATATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79245667	GTGACTGT others(19): Show GTGACTGTGCGGAGGGCACCGCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	298	0.0034	-26	c.110 others(45): Show c.1108-7698_1108-7673delCACCGCCCTACTGACTGTGCGGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79245898	AGGAGGGC others(19): Show AGGAGGGCACCGCCCTACTGACTGTGC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0113 a0001c0004t0003g0113	1	298	0.0034	-26	c.110 others(45): Show c.1108-7472_1108-7447delGCCCTACTGACTGTGCGGAGGGCACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79297339	GAGATGAC others(19): Show GAGATGACCCAGCCAGAGAGGAGACAC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0008 a0013 a0008 a0013	a0008c0030 a0013c0023 a0008c0030 a0013c0023	a0008c0030t0001 a0013c0023t0001 a0008c0030t0001 a0013c0023t0001	a0008c0030t0001g0254 a0013c0023t0001g0042 a0008c0030t0001g0254 a0013c0023t0001g0042	2	298	0.0067	-26	c.141 others(45): Show c.1412-6261_1412-6236delTGACCCAGCCAGAGAGGAGACACAGA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18944.hp1 NA18945.hp1 others(6): Show HG02080.hp2 NA18944.hp1 NA18945.hp1 NA18953.hp1 NA18966.hp1 NA19004.hp1 NA19011.hp2 NA19063.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0107 a0001c0001t0002g0124 others(6): Show a0001c0001t0002g0089 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0002g0166	9	218	0.0413	-26	c.513 others(45): Show c.5135-5522_5135-5497delATATATATATATATATATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATXN7L1_chr7_105599772_105881599	105619510	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18989.hp1 HG02027.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0102 a0001c0001t0018g0046 a0001c0001t0001g0102 a0001c0001t0018g0046	2	252	0.0079	-26	c.151 others(43): Show c.1517+664_1517+689delAAAAAATATATATATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619512	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	252	0.0040	-26	c.151 others(43): Show c.1517+662_1517+687delAAAAAAAATATATATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619518	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0123 a0001c0001t0014g0123	1	252	0.0040	-26	c.151 others(43): Show c.1517+656_1517+681delAAAAAAAAAAAAAATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69602032	ATATATAT others(19): Show ATATATATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	76	0.0132	-26	c.309 others(43): Show c.309+2072_309+2097delATATATATGTGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69602038	ATATGTGT others(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA21309.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0015g0001 a0001c0001t0016g0002	2	76	0.0263	-26	c.309 others(43): Show c.309+2078_309+2103delATGTGTGTGTGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69602040	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG03225.hp1 HG02647.hp2 HG02717.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0032 a0001c0001t0035 a0002c0002t0036 a0001c0001t0032 a0001c0001t0035 a0002c0002t0036	a0001c0001t0032g0016 a0001c0001t0035g0019 a0002c0002t0036g0017 a0001c0001t0032g0016 a0001c0001t0035g0019 a0002c0002t0036g0017	3	76	0.0395	-26	c.309 others(43): Show c.309+2106_309+2131delGTGTGTGTGTGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar

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