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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP8B4_chr15_49853238_50124233	50072921	C C	CCCCTCTC others(9): Show CCCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0019 a0002c0002t0002 a0001c0001t0019 a0002c0002t0002	a0001c0001t0019g0035 a0002c0002t0002g0065 a0001c0001t0019g0035 a0002c0002t0002g0065	2	254	0.0079	16	c.87+ others(31): Show c.87+1205_87+1206insAGAGAGAGAGAGAGGG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072921	C C	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0129 a0002c0002t0003g0129	1	254	0.0039	16	c.87+ others(31): Show c.87+1190_87+1205dupAGAGAGAGAGAGAGAG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072980	C C	CTCTCTCT others(9): Show CTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0099 a0001c0014t0001g0099	1	254	0.0039	16	c.87+ others(31): Show c.87+1146_87+1147insTATATATATAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50104866	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01109.hp1 others(26): Show HG00642.hp2 HG00733.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG02148.hp2 HG02258.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02897.hp2 HG02976.hp2 HG03195.hp1 HG03710.hp1 HG04199.hp2 NA18995.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0031 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0031 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0003c0003t0001 a0004c0004t0009 a0004c0004t0011 a0006c0006t0006 a0007c0007t0001	a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0225 others(26): Show a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0031g0241 a0002c0002t0001g0101 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0232 a0002c0002t0003g0119 a0002c0002t0003g0129 a0002c0002t0003g0221 a0002c0002t0003g0229 a0002c0002t0006g0146 a0002c0002t0008g0133 a0002c0002t0008g0226 a0003c0003t0001g0185 a0004c0004t0009g0091 a0004c0004t0011g0022 a0006c0006t0006g0116 a0007c0007t0001g0240 a0007c0007t0001g0243	29	254	0.1142	16	c.28+ others(31): Show c.28+2057_28+2072dupGTGTGTGTGTGTGTGT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50104887	A A	ACACACAC others(9): Show ACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01516.hp1 HG01517.hp1 others(4): Show HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02647.hp1 HG03669.hp2 HG04199.hp1 NA19006.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0011 a0001c0001 a0002c0002 a0011c0011	a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 a0011c0011t0001	a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 others(4): Show a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0006g0112 a0002c0002t0001g0173 a0011c0011t0001g0127	7	254	0.0276	16	c.28+ others(31): Show c.28+2051_28+2052insGGTGTGTGTGTGTGTG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51608922	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp1 HG01175.hp1 others(19): Show HG00558.hp1 HG01099.hp1 HG01175.hp1 HG01255.hp2 HG01358.hp2 HG01496.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02145.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02723.hp1 HG03017.hp2 HG03490.hp2 NA18906.hp1 NA18970.hp2 NA18995.hp1 NA19000.hp1 NA19009.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 a0001c0001t0042 a0001c0002t0005 a0001c0002t0013 a0001c0002t0021 a0001c0002t0027 a0001c0002t0057 a0001c0007t0001 a0001c0013t0002 a0001c0015t0015	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0253 others(19): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0253 a0001c0001t0002g0033 a0001c0001t0002g0274 a0001c0001t0013g0001 a0001c0001t0013g0128 a0001c0001t0019g0248 a0001c0001t0019g0294 a0001c0001t0019g0308 a0001c0001t0042g0148 a0001c0002t0005g0189 a0001c0002t0013g0055 a0001c0002t0021g0201 a0001c0002t0021g0226 a0001c0002t0021g0300 a0001c0002t0027g0197 a0001c0002t0057g0110 a0001c0007t0001g0023 a0001c0007t0001g0295 a0001c0013t0002g0105 a0001c0015t0015g0017	22	312	0.0705	16	c.263 others(33): Show c.2637-312_2637-297dupACACACACACACACAC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	24/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51608954	T T	TGGTGTGT others(9): Show TGGTGTGTGTGTGTAGG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	312	0.0032	16	c.263 others(33): Show c.2637-329_2637-328insCCTACACACACACACC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	24/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02559.hp2 others(7): Show HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG03041.hp1 HG03225.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0052 a0001c0003t0008 a0001c0005t0008 others(3): Show a0001c0002t0052 a0001c0003t0008 a0001c0005t0008 a0001c0005t0009 a0001c0005t0043 a0001c0005t0046	a0001c0002t0052g0091 a0001c0003t0008g0269 a0001c0005t0008g0003 others(7): Show a0001c0002t0052g0091 a0001c0003t0008g0269 a0001c0005t0008g0003 a0001c0005t0008g0046 a0001c0005t0008g0111 a0001c0005t0008g0113 a0001c0005t0008g0114 a0001c0005t0009g0309 a0001c0005t0043g0002 a0001c0005t0046g0116	10	312	0.0321	16	c.166 others(35): Show c.1668+3525_1668+3540dupTCCTTCCTTCCTTCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGGAGG others(9): Show GAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01167.hp2 others(1): Show HG00642.hp2 HG01070.hp1 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0186 a0001c0001t0001g0208 a0001c0001t0002g0241 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0208 a0001c0001t0002g0241 a0001c0001t0002g0250	4	312	0.0128	16	c.166 others(35): Show c.1668+3540_1668+3541insTCCTTCCTTCCTCCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635822	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0090 a0001c0002t0053g0090	1	312	0.0032	16	c.166 others(35): Show c.1668+3520_1668+3521insCCCTTCCTTCCTTCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635822	A A	AAGGAAGG others(9): Show AAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0135 a0001c0003t0027g0135	1	312	0.0032	16	c.166 others(35): Show c.1668+3520_1668+3521insCCCTCCCTCCCTTCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01934.hp1 HG02922.hp1 HG00423.hp2 HG01934.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0004t0033 a0001c0005t0008 a0001c0004t0004 a0001c0004t0033 a0001c0005t0008	a0001c0004t0004g0185 a0001c0004t0033g0301 a0001c0005t0008g0114 a0001c0004t0004g0185 a0001c0004t0033g0301 a0001c0005t0008g0114	3	312	0.0096	16	c.166 others(35): Show c.1668+1256_1668+1271dupTATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	T T	TTATTTAT others(9): Show TTATTTATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0221 a0001c0003t0007g0221	1	312	0.0032	16	c.166 others(35): Show c.1668+1271_1668+1272insTATATATATATAAATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18953.hp2 NA18986.hp2 others(2): Show HG03669.hp1 NA18953.hp2 NA18986.hp2 NA19077.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0021 a0001c0004 a0003c0021	a0001c0004t0004 a0001c0004t0017 a0001c0004t0037 others(1): Show a0001c0004t0004 a0001c0004t0017 a0001c0004t0037 a0003c0021t0009	a0001c0004t0004g0167 a0001c0004t0004g0171 a0001c0004t0017g0169 others(2): Show a0001c0004t0004g0167 a0001c0004t0004g0171 a0001c0004t0017g0169 a0001c0004t0037g0064 a0003c0021t0009g0195	5	312	0.0160	16	c.150 others(35): Show c.1507-3238_1507-3223dupTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(9): Show CGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0113 a0001c0005t0008g0113	1	312	0.0032	16	c.129 others(35): Show c.1294-1739_1294-1738insCCCCCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGTGGGG others(9): Show CGGTGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0292 a0001c0001t0062g0292	1	312	0.0032	16	c.129 others(35): Show c.1294-1739_1294-1738insCCCCCCCCGCCCCACC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0120 a0001c0003t0031g0120	1	312	0.0032	16	c.328 others(33): Show c.328-5756_328-5741dupTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748940	T T	TAGACAGA others(9): Show TAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0048 a0001c0011t0048	a0001c0011t0048g0209 a0001c0011t0048g0209	1	312	0.0032	16	c.69- others(33): Show c.69-18963_69-18962insGTCTGTCTGTCTGTCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748944	T T	TAGACAGA others(9): Show TAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18522.hp1 HG04199.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0007 a0001c0005t0009 a0001c0003t0007 a0001c0005t0009	a0001c0003t0007g0307 a0001c0005t0009g0309 a0001c0003t0007g0307 a0001c0005t0009g0309	2	312	0.0064	16	c.69- others(33): Show c.69-18967_69-18966insGTCTGTCTGTCTGTCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGACAGA others(9): Show TAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02559.hp2 others(6): Show HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02717.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0010 a0001c0003t0050 a0001c0005t0008 others(2): Show a0001c0003t0010 a0001c0003t0050 a0001c0005t0008 a0001c0005t0043 a0001c0005t0046	a0001c0003t0010g0112 a0001c0003t0050g0108 a0001c0005t0008g0003 others(6): Show a0001c0003t0010g0112 a0001c0003t0050g0108 a0001c0005t0008g0003 a0001c0005t0008g0046 a0001c0005t0008g0111 a0001c0005t0008g0113 a0001c0005t0008g0114 a0001c0005t0043g0002 a0001c0005t0046g0116	9	312	0.0289	16	c.69- others(33): Show c.69-18986_69-18971dupGTCTGTCTGTCTGTCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGATAGA others(9): Show TAGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00673.hp1 others(28): Show HG00438.hp2 HG00544.hp1 HG00673.hp1 HG01168.hp1 HG01257.hp1 HG01361.hp2 HG01884.hp1 HG02027.hp2 HG02071.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02897.hp1 HG03225.hp1 HG03486.hp2 HG03831.hp1 HG04199.hp1 NA18906.hp1 NA18947.hp1 NA18952.hp1 NA18961.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp2 NA18989.hp2 NA19043.hp1 NA19056.hp1 NA19070.hp1 NA19080.hp2 NA19081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0022 a0001c0001t0035 a0001c0001t0064 a0001c0001t0066 a0001c0001t0075 a0001c0002t0005 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0002t0052 a0001c0003t0015 a0001c0008t0004	a0001c0001t0001g0238 a0001c0001t0001g0273 a0001c0001t0001g0282 others(28): Show a0001c0001t0001g0238 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0093 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0006g0098 a0001c0001t0006g0104 a0001c0001t0006g0276 a0001c0001t0010g0272 a0001c0001t0012g0206 a0001c0001t0017g0041 a0001c0001t0022g0103 a0001c0001t0035g0194 a0001c0001t0064g0050 a0001c0001t0066g0117 a0001c0001t0075g0074 a0001c0002t0005g0054 a0001c0002t0013g0055 a0001c0002t0016g0049 a0001c0002t0016g0053 a0001c0002t0016g0056 a0001c0002t0020g0140 a0001c0002t0052g0091 a0001c0003t0015g0138 a0001c0008t0004g0306	31	312	0.0994	16	c.69- others(33): Show c.69-18971_69-18970insGTCTGTCTGTCTATCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGATAGA others(9): Show TAGATAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01255.hp1 others(13): Show HG00323.hp1 HG00558.hp1 HG01255.hp1 HG01261.hp2 HG01496.hp2 HG02148.hp1 HG02559.hp1 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG03139.hp1 HG03471.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0018 a0001c0001t0026 a0001c0001t0036 a0001c0001t0065 a0001c0001t0077 a0001c0002t0068 a0001c0003t0008 a0001c0003t0032 a0001c0017t0001 a0001c0019t0010	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0284 others(13): Show a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0284 a0001c0001t0002g0296 a0001c0001t0009g0009 a0001c0001t0013g0128 a0001c0001t0018g0254 a0001c0001t0026g0285 a0001c0001t0036g0096 a0001c0001t0065g0123 a0001c0001t0077g0008 a0001c0002t0068g0293 a0001c0003t0008g0269 a0001c0003t0032g0107 a0001c0017t0001g0304 a0001c0019t0010g0129	16	312	0.0513	16	c.69- others(33): Show c.69-18971_69-18970insGTCTGTCTATCTATCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071398	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01981.hp2 NA18940.hp1 others(1): Show HG01261.hp1 HG01981.hp2 NA18940.hp1 NA18994.hp1	a0001 a0016 a0001 a0016	a0001c0003 a0016c0028 a0001c0003 a0016c0028	a0001c0003t0003 a0016c0028t0012 a0001c0003t0003 a0016c0028t0012	a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 others(1): Show a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0016c0028t0012g0144	4	298	0.0134	16	c.119 others(33): Show c.119+1869_119+1870insTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01169.hp1 others(3): Show HG01081.hp2 HG01167.hp2 HG01169.hp1 NA18942.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0100 a0001c0001t0001g0156 a0001c0001t0001g0157	6	298	0.0201	16	c.119 others(33): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79163869	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02293.hp2 NA18612.hp1 HG00735.hp2 HG02293.hp2 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0002c0005 a0001c0006 a0002c0002 a0002c0005	a0001c0006t0007 a0002c0002t0001 a0002c0005t0002 a0001c0006t0007 a0002c0002t0001 a0002c0005t0002	a0001c0006t0007g0290 a0002c0002t0001g0164 a0002c0005t0002g0207 a0001c0006t0007g0290 a0002c0002t0001g0164 a0002c0005t0002g0207	3	298	0.0101	16	c.778 others(33): Show c.778+9336_778+9351dupCACACACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79231803	T T	TATATATA others(9): Show TATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG02818.hp2 HG01106.hp2 HG02572.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103	3	298	0.0101	16	c.110 others(37): Show c.1107+17766_1107+17767insTATATATACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79231803	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	298	0.0034	16	c.110 others(37): Show c.1107+17766_1107+17767insTATATATATATATACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18979.hp2 NA19043.hp2 others(1): Show NA18950.hp2 NA18979.hp2 NA19043.hp2 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0004 a0001c0003t0003 a0001c0004t0004	a0001c0003t0003g0124 a0001c0003t0003g0126 a0001c0003t0003g0153 others(1): Show a0001c0003t0003g0124 a0001c0003t0003g0126 a0001c0003t0003g0153 a0001c0004t0004g0119	4	298	0.0134	16	c.126 others(35): Show c.1268+2731_1268+2746dupTATATATATATATATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79356647	G G	GTTCCATT others(9): Show GTTCCATTTGCATAGCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	298	0.0034	16	c.290 others(35): Show c.2904-2687_2904-2672dupCATTTGCATAGCATTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376172	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19007.hp2 NA18970.hp1 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0228 a0002c0002t0002g0200 a0002c0002t0002g0228	2	298	0.0067	16	c.330 others(33): Show c.3307+774_3307+789dupCACACACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACAAA others(9): Show CACACAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0169 a0005c0016t0001g0169	1	298	0.0034	16	c.330 others(33): Show c.3307+789_3307+790insCACAAAAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(9): Show CACACACACAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03098.hp1 NA18992.hp1 HG01358.hp1 HG03098.hp1 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0002c0005t0001g0178 a0001c0001t0001g0140 a0001c0001t0001g0141 a0002c0005t0001g0178	3	298	0.0101	16	c.330 others(33): Show c.3307+789_3307+790insCACACACAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(9): Show CACACACACACAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02109.hp2 HG03209.hp1 others(7): Show HG01358.hp2 HG02109.hp2 HG03209.hp1 NA18949.hp1 NA18952.hp2 NA18961.hp2 NA18998.hp1 NA19011.hp1 NA19070.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0025 others(1): Show a0001c0001 a0001c0015 a0001c0025 a0001c0038	a0001c0001t0001 a0001c0015t0001 a0001c0025t0001 others(1): Show a0001c0001t0001 a0001c0015t0001 a0001c0025t0001 a0001c0038t0001	a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0045 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0015t0001g0132 a0001c0025t0001g0074 a0001c0038t0001g0265	10	298	0.0336	16	c.330 others(33): Show c.3307+789_3307+790insCACACACACAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(9): Show CACACACACACACAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG00741.hp2 others(14): Show HG00609.hp2 HG00673.hp2 HG00741.hp2 HG01109.hp1 HG01975.hp2 HG02071.hp1 HG02135.hp1 HG02300.hp2 HG04115.hp2 NA18940.hp2 NA18943.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA19004.hp1 NA19086.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0026 a0001c0001 a0001c0015 a0001c0026	a0001c0001t0001 a0001c0001t0008 a0001c0015t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0015t0001 a0001c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0015t0001g0130 a0001c0026t0001g0038	17	298	0.0571	16	c.330 others(33): Show c.3307+789_3307+790insCACACACACACAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(9): Show CACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03492.hp1 HG01981.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0003 a0001c0001t0010g0050 a0001c0001t0001g0003 a0001c0001t0010g0050	2	298	0.0067	16	c.330 others(33): Show c.3307+789_3307+790insCACACACACACACAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79383034	A A	ACTAGCTG others(9): Show ACTAGCTGTCTCTGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	6	298	0.0201	16	c.56 others(27): Show c.5651_*5652insCTAGCTGTCTCTGGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding		4752		chr18	TogoVar
ATP9B_chr18_79064394_79383283	79383038	G G	GCTGTCTC others(9): Show GCTGTCTCTGGCTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(278): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0003 a0001c0004 others(32): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0024 a0001c0025 a0001c0026 a0001c0037 a0001c0038 a0001c0039 a0002c0002 a0002c0005 a0002c0033 a0003c0007 a0003c0020 a0003c0021 a0005c0016 a0006c0012 a0007c0031 a0008c0030 a0009c0034 a0010c0029 a0011c0035 a0012c0018 a0013c0023 a0014c0022 a0015c0027 a0016c0028 a0017c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0001 a0001c0010t0004 a0001c0011t0006 a0001c0013t0004 a0001c0014t0006 a0001c0015t0001 a0001c0017t0004 a0001c0024t0004 a0001c0025t0001 a0001c0026t0001 a0001c0037t0003 a0001c0038t0001 a0001c0039t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0033t0002 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0005c0016t0001 a0006c0012t0003 a0007c0031t0002 a0008c0030t0001 a0009c0034t0002 a0010c0029t0004 a0011c0035t0002 a0012c0018t0002 a0013c0023t0001 a0014c0022t0004 a0015c0027t0003 a0016c0028t0012 a0017c0019t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(278): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0079 a0001c0001t0003g0072 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0002g0109 a0001c0004t0003g0034 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0098 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0001c0010t0001g0296 a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0017t0004g0099 a0001c0024t0004g0058 a0001c0025t0001g0074 a0001c0026t0001g0038 a0001c0037t0003g0104 a0001c0038t0001g0265 a0001c0039t0002g0266 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0198 a0002c0002t0003g0204 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0202 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0005t0004g0184 a0002c0033t0002g0214 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0005c0016t0001g0169 a0005c0016t0001g0171 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0007c0031t0002g0251 a0008c0030t0001g0254 a0009c0034t0002g0186 a0010c0029t0004g0220 a0011c0035t0002g0201 a0012c0018t0002g0114 a0013c0023t0001g0042 a0014c0022t0004g0276 a0015c0027t0003g0139 a0016c0028t0012g0144 a0017c0019t0002g0076	281	298	0.9430	16	c.56 others(27): Show c.5655_*5656insCTGTCTCTGGCTCTGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding		4756		chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019147	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03209.hp1 NA18953.hp2 others(1): Show HG02135.hp1 HG03209.hp1 NA18953.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0001g0166 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0001g0166 a0002c0002t0003g0029	4	328	0.0122	16	c.733 others(31): Show c.733-477_733-462dupTGTGTGTGTGTGTGTG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATRNL1_chr10_115088365_115953999	115194833	T T	TTTTTTTT others(9): Show TTTTTTTTTTTAATTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show HG00639.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 others(3): Show a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0007t0027 a0001c0007t0030	a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 others(5): Show a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0007t0027g0006 a0001c0007t0030g0008	8	128	0.0625	16	c.134 others(37): Show c.1349-20861_1349-20860insTTTTTTTAATTTCTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223913	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02895.hp1 HG02897.hp1 HG02280.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0012 a0002c0004t0007 a0002c0004t0012	a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026 a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026	3	128	0.0234	16	c.153 others(35): Show c.1532+8034_1532+8035insGTGTATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115271165	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0024 a0001c0001t0019 a0001c0001t0024	a0001c0001t0019g0020 a0001c0001t0024g0024 a0001c0001t0019g0020 a0001c0001t0024g0024	2	128	0.0156	16	c.210 others(35): Show c.2100+2741_2100+2756dupCACACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115374453	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02280.hp2 others(7): Show HG01891.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp1 NA18906.hp1 NA18957.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0004	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(7): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0002t0001 a0001c0003t0031 a0001c0007t0027 a0002c0004t0006	a0001c0001t0002g0015 a0001c0001t0008g0023 a0001c0001t0010g0018 others(7): Show a0001c0001t0002g0015 a0001c0001t0008g0023 a0001c0001t0010g0018 a0001c0001t0013g0019 a0001c0001t0023g0022 a0001c0001t0025g0021 a0001c0002t0001g0045 a0001c0003t0031g0016 a0001c0007t0027g0006 a0002c0004t0006g0084	10	128	0.0781	16	c.317 others(37): Show c.3176-20186_3176-20171dupCTTCCTTCCTTCCTTC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02559.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0002c0008t0011 a0001c0001t0002 a0002c0008t0011	a0001c0001t0002g0015 a0002c0008t0011g0073 a0001c0001t0002g0015 a0002c0008t0011g0073	2	128	0.0156	16	c.317 others(37): Show c.3176-13225_3176-13210dupTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389538	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0082	1	128	0.0078	16	c.317 others(35): Show c.3176-5120_3176-5119insATATATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389542	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03239.hp2 HG03834.hp2 others(1): Show HG02132.hp1 HG03239.hp2 HG03834.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0002 a0001c0001t0008 a0001c0002t0028 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0028 a0001c0013t0009	a0001c0001t0002g0080 a0001c0001t0008g0079 a0001c0002t0028g0076 others(1): Show a0001c0001t0002g0080 a0001c0001t0008g0079 a0001c0002t0028g0076 a0001c0013t0009g0078	4	128	0.0313	16	c.317 others(35): Show c.3176-5102_3176-5101insGTATATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115403257	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0042 a0002c0004t0012 a0001c0001t0042 a0002c0004t0012	a0001c0001t0042g0095 a0002c0004t0012g0025 a0002c0004t0012g0026 a0001c0001t0042g0095 a0002c0004t0012g0025 a0002c0004t0012g0026	3	128	0.0234	16	c.326 others(35): Show c.3269+8509_3269+8524dupTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442270	G G	GCTCTCTC others(9): Show GCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02895.hp1 HG03579.hp1 others(3): Show HG02280.hp1 HG02895.hp1 HG03579.hp1 NA18522.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0011 a0001c0001t0015 a0001c0001t0036 others(3): Show a0001c0001t0011 a0001c0001t0015 a0001c0001t0036 a0002c0004t0006 a0002c0004t0007 a0002c0004t0012	a0001c0001t0011g0112 a0001c0001t0015g0064 a0001c0001t0036g0117 others(3): Show a0001c0001t0011g0112 a0001c0001t0015g0064 a0001c0001t0036g0117 a0002c0004t0006g0084 a0002c0004t0007g0011 a0002c0004t0012g0025	6	128	0.0469	16	c.332 others(37): Show c.3322+15987_3322+16002dupCTCTCTCTCTCTCTCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0044 a0002c0008t0044	a0002c0008t0044g0063 a0002c0008t0044g0063	1	128	0.0078	16	c.332 others(37): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115528037	T T	TCTTCCTT others(9): Show TCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02818.hp1 others(1): Show HG02615.hp2 HG02723.hp2 HG02818.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 a0001c0001 a0001c0007 a0002c0004	a0001c0001t0008 a0001c0001t0016 a0001c0007t0030 others(1): Show a0001c0001t0008 a0001c0001t0016 a0001c0007t0030 a0002c0004t0002	a0001c0001t0008g0030 a0001c0001t0016g0031 a0001c0007t0030g0008 others(1): Show a0001c0001t0008g0030 a0001c0001t0016g0031 a0001c0007t0030g0008 a0002c0004t0002g0013	4	128	0.0313	16	c.371 others(35): Show c.3716+8733_3716+8748dupCCTTCCTTCCTTCCTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115561676	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0020 a0001c0001t0019g0020	1	128	0.0078	16	c.379 others(37): Show c.3795+12153_3795+12154insTGGGTGTGTGTGTGTG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar

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