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
DMD_chrX_31114222_33216549	32483146	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0012 a0002c0059t0012	a0002c0059t0012g0055 a0002c0059t0012g0055	1	126	0.0079	34	c.280 others(53): Show c.2803+1772_2803+1773insATATATATATATATATATATATATAT ATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01106.hp1 HG01515.hp1 others(6): Show HG00621.hp1 HG01106.hp1 HG01515.hp1 HG02027.hp1 HG02723.hp2 HG02738.hp1 HG02922.hp1 HG03579.hp1 NA18940.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0013 a0032	a0001c0001 a0001c0002 a0002c0005 others(4): Show a0001c0001 a0001c0002 a0002c0005 a0002c0012 a0005c0007 a0013c0015 a0032c0036	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0005t0002 a0002c0012t0002 a0005c0007t0002 a0005c0007t0007 a0013c0015t0001 a0032c0036t0004	a0001c0001t0001g0062 a0001c0002t0001g0025 a0001c0002t0002g0056 others(6): Show a0001c0001t0001g0062 a0001c0002t0001g0025 a0001c0002t0002g0056 a0002c0005t0002g0020 a0002c0012t0002g0098 a0005c0007t0002g0093 a0005c0007t0007g0063 a0013c0015t0001g0102 a0032c0036t0004g0011	9	126	0.0714	34	c.280 others(53): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT ATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32641408	G G	GTATATAT others(27): Show GTATATATATATAAATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0034 a0034	a0034c0030 a0034c0030	a0034c0030t0003 a0034c0030t0003	a0034c0030t0003g0029 a0034c0030t0003g0029	1	126	0.0079	34	c.133 others(53): Show c.1331+2723_1331+2724insTTTATATATATATATATATATTTATA TATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	11/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGCGGGG others(27): Show TGGCGGGGGGGGGGGGGGGGGGGGGGGTTGGGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0029 a0029	a0029c0044 a0029c0044	a0029c0044t0014 a0029c0044t0014	a0029c0044t0014g0094 a0029c0044t0014g0094	1	126	0.0079	34	c.649 others(53): Show c.649+32215_649+32216insCCCCCCAACCCCCCCCCCCCCCCCCC CCCCCGCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32815520	T T	TATATATA others(27): Show TATATATATATATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	126	0.0079	34	c.530 others(49): Show c.530+947_530+948insGTGTGTGTGTGTGTGTGTATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	6/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(27): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01928.hp1 HG03225.hp1 others(1): Show HG01106.hp1 HG01928.hp1 HG03225.hp1 HG03688.hp1	a0001 a0003 a0013 others(1): Show a0001 a0003 a0013 a0014	a0001c0022 a0003c0014 a0013c0015 others(1): Show a0001c0022 a0003c0014 a0013c0015 a0014c0017	a0001c0022t0001 a0003c0014t0010 a0013c0015t0001 others(1): Show a0001c0022t0001 a0003c0014t0010 a0013c0015t0001 a0014c0017t0001	a0001c0022t0001g0036 a0003c0014t0010g0015 a0013c0015t0001g0102 others(1): Show a0001c0022t0001g0036 a0003c0014t0010g0015 a0013c0015t0001g0102 a0014c0017t0001g0107	4	126	0.0318	34	c.32- others(51): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMRT2_chr9_1045357_1062552	1061917	T T	TTATATAC others(27): Show TTATATACACACACTGTATATATATGTTATACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03098.hp2 HG06807.hp2 HG02280.hp2 HG03098.hp2 HG06807.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0004c0010 a0001c0003 a0002c0001 a0004c0010	a0001c0003t0010 a0002c0001t0001 a0004c0010t0015 a0001c0003t0010 a0002c0001t0001 a0004c0010t0015	a0001c0003t0010g0102 a0002c0001t0001g0004 a0004c0010t0015g0037 a0001c0003t0010g0102 a0002c0001t0001g0004 a0004c0010t0015g0037	3	488	0.0062	34	c.46 others(45): Show c.4644_*4645insTATATACACACACTGTATATATATGTTATACATA	DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding		4366		chr9	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp2 HG01258.hp1 others(3): Show HG00738.hp2 HG01256.hp2 HG01258.hp1 HG03654.hp2 NA19004.hp2 homoSapiens_chm13v2.hp1	a0001 a0016 a0023 a0001 a0016 a0023	a0001c0002 a0016c0041 a0023c0029 a0001c0002 a0016c0041 a0023c0029	a0001c0002t0001 a0016c0041t0001 a0023c0029t0001 a0001c0002t0001 a0016c0041t0001 a0023c0029t0001	a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0203 others(3): Show a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0203 a0001c0002t0001g0204 a0016c0041t0001g0032 a0023c0029t0001g0073	6	238	0.0252	34	c.668 others(53): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TATATATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0007 a0002c0033t0007	a0002c0033t0007g0210 a0002c0033t0007g0210	1	346	0.0029	34	c.299 others(51): Show c.2992+499_2992+500insCACACACACACACACACACACACACACA CACACA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(27): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	398	0.0025	34	c.-18 others(45): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTCTCTATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(27): Show TATATATATATATATATATAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0050 a0002c0003t0001g0050	1	398	0.0025	34	c.-18 others(45): Show c.-1889_-1888insCTCTCTCTCTCTCTCTATATATATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(27): Show TATATATATATATATATATATATATAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	398	0.0025	34	c.-18 others(45): Show c.-1889_-1888insCTCTCTCTCTATATATATATATATATATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF5_chr7_721699_791475	742580	C C	CACATGCC others(27): Show CACATGCCCAGCTCAAATCAATCATGCCCAGCTCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp2 HG02109.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0287 a0002c0002t0001g0288	2	378	0.0053	34	c.102 others(53): Show c.1024+1116_1024+1117insCATGCCCAGCTCAAATCAATCATGCC CAGCTCAA	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH10_chr12_123757301_123940714	123911763	T T	TGGGGGGT others(27): Show TGGGGGGTCTGTCCTGGGCGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02145.hp1 others(2): Show HG01109.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02717.hp1	a0007 a0013 a0024 others(2): Show a0007 a0013 a0024 a0025 a0054	a0007c0097 a0013c0014 a0024c0024 others(2): Show a0007c0097 a0013c0014 a0024c0024 a0025c0080 a0054c0064	a0007c0097t0001 a0013c0014t0001 a0024c0024t0001 others(2): Show a0007c0097t0001 a0013c0014t0001 a0024c0024t0001 a0025c0080t0001 a0054c0064t0001	a0007c0097t0001g0126 a0013c0014t0001g0041 a0024c0024t0001g0008 others(2): Show a0007c0097t0001g0126 a0013c0014t0001g0041 a0024c0024t0001g0008 a0025c0080t0001g0004 a0054c0064t0001g0109	5	170	0.0294	34	c.101 others(55): Show c.10134+1108_10134+1109insCGGGGGGGTCTGTCCTGGGGGGGT CTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789794	T T	TTTCTTTT others(27): Show TTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0224 a0224	a0224c0261 a0224c0261	a0224c0261t0007 a0224c0261t0007	a0224c0261t0007g0227 a0224c0261t0007g0227	1	298	0.0034	34	c.100 others(53): Show c.10026+458_10026+459insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789797	C C	CTTTCTTT others(27): Show CTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0213 a0213	a0213c0238 a0213c0238	a0213c0238t0003 a0213c0238t0003	a0213c0238t0003g0193 a0213c0238t0003g0193	1	298	0.0034	34	c.100 others(53): Show c.10026+462_10026+463insTTTCTTTCTTTCTTTCTTTCTTTCTT TTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789812	C C	CTTTCTTT others(27): Show CTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 HG03453.hp1 HG03471.hp1	a0107 a0140 a0107 a0140	a0107c0173 a0140c0125 a0107c0173 a0140c0125	a0107c0173t0005 a0140c0125t0004 a0107c0173t0005 a0140c0125t0004	a0107c0173t0005g0016 a0140c0125t0004g0236 a0107c0173t0005g0016 a0140c0125t0004g0236	2	298	0.0067	34	c.100 others(53): Show c.10026+477_10026+478insTTTCTTTCTTTCTTTCTTTCTTTCTT TTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CACTATAT others(27): Show CACTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0019 a0019	a0019c0035 a0019c0035	a0019c0035t0001 a0019c0035t0001	a0019c0035t0001g0082 a0019c0035t0001g0082	1	266	0.0038	34	c.936 others(53): Show c.9360+2149_9360+2150insTATATATATATATATATATATATATA TATATAGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02258.hp1 HG02970.hp1 others(3): Show HG01070.hp1 HG02258.hp1 HG02970.hp1 NA18940.hp2 NA19060.hp1 NA19064.hp1	a0004 a0025 a0030 others(3): Show a0004 a0025 a0030 a0068 a0073 a0074	a0004c0004 a0025c0056 a0030c0050 others(3): Show a0004c0004 a0025c0056 a0030c0050 a0068c0070 a0073c0053 a0074c0065	a0004c0004t0001 a0025c0056t0001 a0030c0050t0001 others(3): Show a0004c0004t0001 a0025c0056t0001 a0030c0050t0001 a0068c0070t0001 a0073c0053t0001 a0074c0065t0001	a0004c0004t0001g0068 a0025c0056t0001g0064 a0030c0050t0001g0086 others(3): Show a0004c0004t0001g0068 a0025c0056t0001g0064 a0030c0050t0001g0086 a0068c0070t0001g0096 a0073c0053t0001g0075 a0074c0065t0001g0097	6	266	0.0226	34	c.730 others(53): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TATATACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG03579.hp1 others(1): Show HG00741.hp1 HG01361.hp1 HG03579.hp1 NA18942.hp2	a0004 a0008 a0026 a0004 a0008 a0026	a0004c0004 a0008c0007 a0026c0020 a0004c0004 a0008c0007 a0026c0020	a0004c0004t0001 a0008c0007t0001 a0026c0020t0004 a0004c0004t0001 a0008c0007t0001 a0026c0020t0004	a0004c0004t0001g0069 a0004c0004t0001g0093 a0008c0007t0001g0247 others(1): Show a0004c0004t0001g0069 a0004c0004t0001g0093 a0008c0007t0001g0247 a0026c0020t0004g0180	4	266	0.0150	34	c.730 others(53): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TATACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	266	0.0038	34	c.730 others(53): Show c.7305+2049_7305+2050insTATATATATATATATATACACACACA CACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0228 a0005c0005t0001g0228	1	266	0.0038	34	c.730 others(53): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT TTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0088 a0001c0088	a0001c0088t0001 a0001c0088t0001	a0001c0088t0001g0201 a0001c0088t0001g0201	1	266	0.0038	34	c.730 others(53): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT ATTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	266	0.0038	34	c.730 others(53): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT ATATATTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0019 a0019	a0019c0035 a0019c0035	a0019c0035t0001 a0019c0035t0001	a0019c0035t0001g0082 a0019c0035t0001g0082	1	266	0.0038	34	c.133 others(53): Show c.1335+1673_1335+1674insATATATATATATATATATTTTTTTTT TTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH14_chr1_224924675_225404286	225335963	A A	ACATATAT others(27): Show ACATATATGTACATATATGTATATATACACATATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0068 a0068	a0068c0062 a0068c0062	a0068c0062t0001 a0068c0062t0001	a0068c0062t0001g0231 a0068c0062t0001g0231	1	240	0.0042	34	c.100 others(55): Show c.10081-1288_10081-1287insATGTATATATACACATATGCATAT ATGTACATAT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335963	A A	ACCTATAT others(27): Show ACCTATATGTACATATATGTATATATACACATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01109.hp1 HG01243.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0053 a0004c0004t0001g0054	2	240	0.0083	34	c.100 others(55): Show c.10081-1302_10081-1301insCTATATGTACATATATGTATATAT ACACATATGC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78541104	G G	GGGGTGGG others(27): Show GGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0130 a0130	a0130c0160 a0130c0160	a0130c0160t0002 a0130c0160t0002	a0130c0160t0002g0115 a0130c0160t0002g0115	1	252	0.0040	34	c.253 others(53): Show c.2533-1225_2533-1224insTGCTCACCCCCCCACCCCGCTCACCC CCCCACCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78544800	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0018 a0018	a0018c0102 a0018c0102	a0018c0102t0001 a0018c0102t0001	a0018c0102t0001g0196 a0018c0102t0001g0196	1	252	0.0040	34	c.239 others(51): Show c.2392-804_2392-803insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	16/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7836308	C C	CTTTCGGG others(27): Show CTTTCGGGCTGTCTGTCCCTGTCTCCACTCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0001 a0002c0038t0001	a0002c0038t0001g0237 a0002c0038t0001g0237	1	316	0.0032	34	c.27 others(45): Show c.2775_*2776insTTTCGGGCTGTCTGTCCCTGTCTCCACTCGTCCT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		2567		chr17	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG01496.hp2 others(1): Show HG00741.hp2 HG01175.hp1 HG01496.hp2 HG03017.hp2	a0003 a0012 a0020 others(1): Show a0003 a0012 a0020 a0036	a0003c0005 a0012c0030 a0020c0038 others(1): Show a0003c0005 a0012c0030 a0020c0038 a0036c0061	a0003c0005t0001 a0012c0030t0001 a0020c0038t0001 others(1): Show a0003c0005t0001 a0012c0030t0001 a0020c0038t0001 a0036c0061t0001	a0003c0005t0001g0085 a0012c0030t0001g0214 a0020c0038t0001g0089 others(1): Show a0003c0005t0001g0085 a0012c0030t0001g0214 a0020c0038t0001g0089 a0036c0061t0001g0201	4	234	0.0171	34	c.563 others(51): Show c.5639-480_5639-479insTATATATATATATATATATATATATATA TACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19068.hp2 HG02976.hp1 NA19068.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0071 a0002c0004 a0004c0071	a0002c0004t0001 a0004c0071t0001 a0002c0004t0001 a0004c0071t0001	a0002c0004t0001g0124 a0004c0071t0001g0191 a0002c0004t0001g0124 a0004c0071t0001g0191	2	234	0.0086	34	c.563 others(51): Show c.5639-480_5639-479insTATATATATATATATATATATATATATA CACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0152 a0002c0025t0001g0152	1	234	0.0043	34	c.563 others(51): Show c.5639-480_5639-479insTATATATATATATATATATATATATACA CACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGAG others(27): Show GGGGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0166 a0002c0004t0001g0166	1	234	0.0043	34	c.324 others(51): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCCCTCCC TCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(27): Show GGGGGGGGGTGGGGGGGTGGGGAGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0184 a0007c0012t0001g0184	1	234	0.0043	34	c.324 others(51): Show c.3244-354_3244-353insTCTCTCTCCCCCTCCCCACCCCCCCACC CCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG02818.hp1 HG02922.hp1	a0008 a0008	a0008c0063 a0008c0065 a0008c0063 a0008c0065	a0008c0063t0006 a0008c0065t0002 a0008c0063t0006 a0008c0065t0002	a0008c0063t0006g0151 a0008c0065t0002g0016 a0008c0063t0006g0151 a0008c0065t0002g0016	2	252	0.0079	34	c.527 others(51): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTCTTT CTTTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATAT others(27): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0015 a0015	a0015c0125 a0015c0125	a0015c0125t0001 a0015c0125t0001	a0015c0125t0001g0229 a0015c0125t0001g0229	1	284	0.0035	34	c.-35 others(49): Show c.-35+546_-35+547insATATATATATATTTTTTTTTTTTTTTTTTT TTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAI2_chr17_74269234_74319884	74296333	G G	GAGGAGAG others(27): Show GAGGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0328 a0001c0002t0002g0328	1	398	0.0025	34	c.725 others(51): Show c.725-3385_725-3384insAGGAGAGAGAGAGAGAGAGGAGAGAGAG AGAGGA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	6/13			chr17	TogoVar
DNAI4_chr1_66807885_66929856	66844593	C C	CCAATATA others(27): Show CCAATATAGATAGTAGACCTAAACATAAAAGCTAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	264	0.0038	34	c.129 others(53): Show c.1291+2890_1291+2891insTTAGCTTTTATGTTTAGGTCTACTAT CTATATTG	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	8/16			chr1	TogoVar
DNAI4_chr1_66807885_66929856	66893055	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02738.hp2 HG01192.hp1 HG02738.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0004c0006t0001 a0002c0002t0001 a0004c0006t0001	a0002c0002t0001g0087 a0004c0006t0001g0258 a0002c0002t0001g0087 a0004c0006t0001g0258	2	264	0.0076	34	c.530 others(49): Show c.530+173_530+174insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	3/16			chr1	TogoVar
DNAI4_chr1_66807885_66929856	66893113	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	264	0.0038	34	c.530 others(49): Show c.530+115_530+116insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	3/16			chr1	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG01175.hp1 HG01256.hp1 others(1): Show HG00099.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0213 others(1): Show a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0213 a0002c0002t0001g0322	4	336	0.0119	34	c.189 others(47): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG00733.hp1 others(13): Show HG00280.hp2 HG00673.hp2 HG00733.hp1 HG01074.hp2 HG01358.hp1 HG01515.hp1 HG01978.hp1 HG02273.hp2 HG02922.hp1 HG03710.hp1 NA18947.hp2 NA18972.hp2 NA18989.hp2 NA19072.hp2 NA19077.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 others(13): Show a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0146	16	336	0.0476	34	c.124 others(53): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAJA1_chr9_33020273_33044907	33039536	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG01358.hp2 NA18941.hp2 others(1): Show HG00438.hp2 HG01358.hp2 NA18941.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0005 a0001c0001t0018g0011 a0001c0001t0018g0028 a0001c0001t0018g0005 a0001c0001t0018g0011 a0001c0001t0018g0028	4	444	0.0090	34	c.64 others(43): Show c.644_*645insTATATATATATATATATATATATATATATATATA	DNAJA1	ENSG00000086061.16	transcript	ENST00000330899.5	protein_coding	9/9	645	INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJA4_chr15_78259562_78287191	78267187	T T	TGAGTGTG others(27): Show TGAGTGTGTATGTGAGTGTGTGAGTGTGTATGTGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0075 a0001c0001t0013g0074 a0001c0001t0001g0075 a0001c0001t0013g0074	2	442	0.0045	34	c.132 others(51): Show c.132+2293_132+2294insAGTGTGTATGTGAGTGTGTGAGTGTGTA TGTGAG	DNAJA4	ENSG00000140403.13	transcript	ENST00000394852.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
DNAJC11_chr1_6629170_6706816	6706343	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	366	0.0027	34	c.-45 others(45): Show c.-4544_-4543insGTATGTATATATATATATATATATATATATATAT	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding		4528		chr1	TogoVar
DNAJC13_chr3_132412502_132544032	132487559	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0142 a0004c0005t0001g0142	1	318	0.0031	34	c.326 others(51): Show c.3268-719_3268-718insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC15_chr13_43018586_43119213	43024893	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG00735.hp2 HG01496.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0058 a0002c0003t0042 a0001c0002t0058 a0002c0003t0042	a0001c0002t0058g0131 a0002c0003t0042g0297 a0001c0002t0058g0131 a0002c0003t0042g0297	2	352	0.0057	34	c.108 others(51): Show c.108+1177_108+1178insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC16_chr1_15521848_15576733	15544151	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03471.hp2 HG01106.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0013 a0001c0002t0003 a0001c0002t0013	a0001c0002t0003g0156 a0001c0002t0013g0157 a0001c0002t0003g0156 a0001c0002t0013g0157	2	356	0.0056	34	c.575 others(49): Show c.575-246_575-213dupCACACACACACACACACACACACACACACA CACA	DNAJC16	ENSG00000116138.13	transcript	ENST00000375847.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC1_chr10_21751548_22008730	21813220	C C	CTCTATAT others(27): Show CTCTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	164	0.0061	34	c.979 others(51): Show c.979-7122_979-7121insTATATATATATATATATATATATATATA TATAGA	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11			chr10	TogoVar

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