Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DMD_chrX_31114222_33216549	33163628	C C	CTATCTAT others(13): Show CTATCTATCTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(72): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03492.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp1 NA19070.hp1 NA19085.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0020 a0021 a0023 a0024 a0026 a0029 a0030 a0035 a0036	a0001c0001 a0001c0002 a0001c0022 others(36): Show a0001c0001 a0001c0002 a0001c0022 a0002c0005 a0002c0009 a0002c0016 a0002c0020 a0002c0052 a0003c0003 a0003c0014 a0004c0004 a0004c0011 a0004c0055 a0005c0007 a0005c0053 a0006c0006 a0007c0018 a0007c0019 a0008c0010 a0009c0013 a0010c0031 a0010c0051 a0011c0049 a0011c0060 a0012c0040 a0012c0048 a0013c0015 a0014c0017 a0015c0056 a0016c0028 a0020c0034 a0021c0035 a0023c0041 a0024c0038 a0026c0042 a0029c0044 a0030c0037 a0035c0029 a0036c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0022t0001 a0002c0005t0001 a0002c0005t0002 a0002c0005t0007 a0002c0009t0010 a0002c0016t0001 a0002c0016t0009 a0002c0020t0030 a0002c0052t0025 a0003c0003t0001 a0003c0003t0002 a0003c0014t0010 a0004c0004t0001 a0004c0004t0002 a0004c0011t0001 a0004c0055t0001 a0005c0007t0001 a0005c0007t0002 a0005c0053t0004 a0006c0006t0001 a0007c0018t0001 a0007c0019t0001 a0008c0010t0001 a0009c0013t0001 a0009c0013t0022 a0010c0031t0001 a0010c0051t0011 a0011c0049t0001 a0011c0060t0003 a0012c0040t0001 a0012c0048t0001 a0013c0015t0001 a0014c0017t0001 a0015c0056t0021 a0016c0028t0005 a0020c0034t0001 a0021c0035t0001 a0023c0041t0001 a0024c0038t0001 a0026c0042t0024 a0029c0044t0014 a0030c0037t0005 a0035c0029t0001 a0036c0021t0017	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0037 others(72): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0002g0032 a0001c0001t0004g0101 a0001c0001t0008g0021 a0001c0001t0013g0012 a0001c0001t0016g0038 a0001c0001t0026g0039 a0001c0002t0001g0051 a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0001g0115 a0001c0002t0002g0056 a0001c0022t0001g0036 a0002c0005t0001g0022 a0002c0005t0001g0040 a0002c0005t0001g0049 a0002c0005t0002g0020 a0002c0005t0007g0092 a0002c0009t0010g0023 a0002c0016t0001g0060 a0002c0016t0009g0014 a0002c0020t0030g0125 a0002c0052t0025g0095 a0003c0003t0001g0033 a0003c0003t0001g0050 a0003c0003t0001g0067 a0003c0003t0002g0043 a0003c0014t0010g0015 a0004c0004t0001g0041 a0004c0004t0001g0064 a0004c0004t0001g0083 a0004c0004t0001g0087 a0004c0004t0002g0086 a0004c0011t0001g0034 a0004c0011t0001g0085 a0004c0055t0001g0007 a0005c0007t0001g0079 a0005c0007t0002g0093 a0005c0053t0004g0103 a0006c0006t0001g0019 a0006c0006t0001g0047 a0007c0018t0001g0068 a0007c0018t0001g0099 a0007c0019t0001g0052 a0008c0010t0001g0042 a0008c0010t0001g0044 a0009c0013t0001g0017 a0009c0013t0022g0066 a0010c0031t0001g0096 a0010c0051t0011g0121 a0011c0049t0001g0073 a0011c0060t0003g0072 a0012c0040t0001g0048 a0012c0048t0001g0057 a0013c0015t0001g0030 a0014c0017t0001g0114 a0015c0056t0021g0045 a0016c0028t0005g0028 a0020c0034t0001g0013 a0021c0035t0001g0106 a0023c0041t0001g0046 a0024c0038t0001g0053 a0026c0042t0024g0070 a0029c0044t0014g0094 a0030c0037t0005g0082 a0035c0029t0001g0071 a0036c0021t0017g0009	75	126	0.5952	20	c.31+ others(37): Show c.31+47653_31+47654insCATAGATACATAGATAGATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMGDH_chr5_78992564_79074674	79003947	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02015.hp1 HG01261.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0136 a0001c0001t0001g0144	2	372	0.0054	20	c.238 others(39): Show c.2385+1306_2385+1325dupATTTATTTATTTATTTATTT	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	15/15			chr5	TogoVar
DMP1_chr4_87645280_87669357	87667382	T T	TATATATA others(13): Show TATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0041 a0002c0001t0001g0041	1	430	0.0023	20	c.40 others(31): Show c.4062_*4063insATATATATATATATACACAC	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding		3026		chr4	TogoVar
DMRT1_chr9_836697_974090	840722	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 NA18950.hp1 NA18960.hp2 others(5): Show HG02300.hp2 NA18950.hp1 NA18960.hp2 NA19000.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006	a0002c0002t0003g0012 a0002c0002t0003g0081 a0002c0002t0005g0007 others(5): Show a0002c0002t0003g0012 a0002c0002t0003g0081 a0002c0002t0005g0007 a0002c0002t0005g0037 a0002c0002t0006g0054 a0002c0002t0006g0069 a0002c0002t0006g0077 a0002c0002t0006g0082	8	306	0.0261	20	c.-11 others(31): Show c.-1117_-1116insGTGTGTGTGTGTGTGTGTGT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding		974		chr9	TogoVar
DMRT2_chr9_1045357_1062552	1060726	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	488	0.0021	20	c.34 others(31): Show c.3453_*3454insTTTTTTTTTTTTTTTTTTTT	DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding		3175		chr9	TogoVar
DMRTC1_chrX_72867025_72948837	72880587	G G	GTTTGCTT others(13): Show GTTTGCTTTGCTTTGCTTTGC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	54	0.0185	20	c.-94 others(37): Show c.-94-4819_-94-4800dupGCAAAGCAAAGCAAAGCAAA	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/6			chrX	TogoVar
DMTN_chr8_22051814_22087525	22054103	T T	TACACACA others(13): Show TACACACACACACACACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01099.hp1 others(25): Show HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01243.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0003t0002	a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0038 others(23): Show a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0003g0037 a0001c0001t0004g0011 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0011g0036 a0001c0001t0011g0058 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0031	28	324	0.0864	20	c.-32 others(31): Show c.-3205_-3204insACACACACACACACACACAG	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding		2710		chr8	TogoVar
DMTN_chr8_22051814_22087525	22079269	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG00099.hp2 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0079 a0001c0003t0002g0029 a0001c0001t0003g0079 a0001c0003t0002g0029	2	324	0.0062	20	c.836 others(35): Show c.836-908_836-907insTATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079273	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0049 a0002c0002t0006g0049	1	324	0.0031	20	c.836 others(35): Show c.836-904_836-903insTATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(13): Show AATAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02135.hp2 NA18959.hp1 HG02027.hp2 HG02135.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0183 a0001c0001t0001g0235 a0001c0001t0001g0240	3	324	0.0093	20	c.836 others(35): Show c.836-900_836-899insAATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL1_chr5_119066087_119254127	119089277	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	238	0.0042	20	c.88- others(35): Show c.88-8686_88-8685insATATATATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	238	0.0042	20	c.88- others(35): Show c.88-8686_88-8685insATATATATATATATATATTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173668	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA21309.hp1 HG02615.hp1 NA21309.hp1	a0002 a0027 a0002 a0027	a0002c0047 a0027c0022 a0002c0047 a0027c0022	a0002c0047t0001 a0027c0022t0003 a0002c0047t0001 a0027c0022t0003	a0002c0047t0001g0065 a0027c0022t0003g0011 a0002c0047t0001g0065 a0027c0022t0003g0011	2	238	0.0084	20	c.668 others(39): Show c.6682-1590_6682-1589insGTGTGTGTGTGTGTGTGTGT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173774	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG02896.hp1 others(5): Show HG02486.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0002 a0001c0019t0011 a0001c0001t0002 a0001c0019t0011	a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 others(5): Show a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0019t0011g0049 a0001c0019t0011g0052	8	238	0.0336	20	c.668 others(39): Show c.6682-1486_6682-1485insATATATATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01106.hp2 others(5): Show HG00140.hp1 HG01099.hp1 HG01106.hp2 HG01175.hp1 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG03225.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0006c0011	a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0003c0005t0019 a0006c0011t0001	a0001c0001t0002g0043 a0001c0002t0001g0123 a0001c0002t0001g0157 others(5): Show a0001c0001t0002g0043 a0001c0002t0001g0123 a0001c0002t0001g0157 a0001c0002t0001g0174 a0001c0002t0001g0178 a0002c0003t0001g0071 a0003c0005t0019g0142 a0006c0011t0001g0119	8	238	0.0336	20	c.668 others(39): Show c.6682-1482_6682-1463dupTATATATATATATATATATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02976.hp2 HG01168.hp1 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0021 a0003c0005t0001 a0001c0002t0021 a0003c0005t0001	a0001c0002t0021g0036 a0003c0005t0001g0159 a0001c0002t0021g0036 a0003c0005t0001g0159	2	238	0.0084	20	c.668 others(39): Show c.6682-1484_6682-1483insGTATATATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03139.hp2 HG03486.hp1 HG02615.hp1 HG03139.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0047 a0001c0004 a0002c0047	a0001c0004t0003 a0002c0047t0001 a0001c0004t0003 a0002c0047t0001	a0001c0004t0003g0005 a0001c0004t0003g0007 a0002c0047t0001g0065 a0001c0004t0003g0005 a0001c0004t0003g0007 a0002c0047t0001g0065	3	238	0.0126	20	c.668 others(39): Show c.6682-1484_6682-1483insGTGTGTATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119202865	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0007 a0009c0010t0007	a0009c0010t0007g0004 a0009c0010t0007g0004	1	238	0.0042	20	c.774 others(37): Show c.7746-437_7746-436insATTTATATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	32/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119219556	A A	AATTTATT others(13): Show AATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0007 a0009c0010t0007	a0009c0010t0007g0002 a0009c0010t0007g0003 a0009c0010t0007g0002 a0009c0010t0007g0003	2	238	0.0084	20	c.801 others(37): Show c.8014-913_8014-912insTATTTATTTATTTATTTATT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51576183	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18975.hp2 NA18975.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0322 a0004c0005t0001g0322	1	346	0.0029	20	c.88- others(30): Show c.88-22_88-3dupTTTTTTTTTTTTTTTTTTTT	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNA2_chr10_68409064_68476973	68412224	G G	GGTTTTTG others(13): Show GGTTTTTGTTTTTGTTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(36): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG01123.hp1 HG01361.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp1 NA18747.hp1 NA18942.hp2 NA18948.hp1 NA18956.hp2 NA18961.hp2 NA18966.hp1 NA18969.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18995.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19054.hp2 NA19066.hp2 NA19077.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0015 others(1): Show a0001c0002 a0001c0003 a0001c0015 a0001c0017	a0001c0002t0012 a0001c0003t0003 a0001c0003t0009 others(2): Show a0001c0002t0012 a0001c0003t0003 a0001c0003t0009 a0001c0015t0003 a0001c0017t0003	a0001c0002t0012g0126 a0001c0003t0003g0001 a0001c0003t0003g0002 others(34): Show a0001c0002t0012g0126 a0001c0003t0003g0001 a0001c0003t0003g0002 a0001c0003t0003g0045 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0076 a0001c0003t0003g0077 a0001c0003t0003g0078 a0001c0003t0003g0079 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0009g0080 a0001c0015t0003g0067 a0001c0017t0003g0056	39	326	0.1196	20	c.28 others(31): Show c.2814_*2815insACAAAAACAAAAACAAAAAC	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding		1839		chr10	TogoVar
DNA2_chr10_68409064_68476973	68412224	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTGTTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG03209.hp1 HG00639.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0014 a0001c0002t0010 a0001c0002t0014	a0001c0002t0010g0006 a0001c0002t0014g0306 a0001c0002t0010g0006 a0001c0002t0014g0306	2	326	0.0061	20	c.28 others(31): Show c.2814_*2815insACAAAAACAAAAAAAAAAAA	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding		1839		chr10	TogoVar
DNA2_chr10_68409064_68476973	68412229	T T	TTTTTTTT others(13): Show TTTTTTTTGTTTTTGTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA18906.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0090 a0001c0002t0004g0015 a0001c0001t0001g0090 a0001c0002t0004g0015	2	326	0.0061	20	c.28 others(31): Show c.2809_*2810insCAAAAACAAAAACAAAAAAA	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding		1834		chr10	TogoVar
DNA2_chr10_68409064_68476973	68427650	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG01978.hp1 others(8): Show HG00408.hp2 HG00621.hp2 HG01978.hp1 HG02258.hp2 HG02300.hp2 NA18942.hp2 NA18966.hp1 NA18978.hp1 NA18995.hp1 NA19005.hp1 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0015 others(1): Show a0001c0003 a0001c0004 a0001c0015 a0001c0017	a0001c0003t0003 a0001c0004t0004 a0001c0015t0003 others(1): Show a0001c0003t0003 a0001c0004t0004 a0001c0015t0003 a0001c0017t0003	a0001c0003t0003g0064 a0001c0003t0003g0069 a0001c0003t0003g0072 others(8): Show a0001c0003t0003g0064 a0001c0003t0003g0069 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0076 a0001c0003t0003g0077 a0001c0003t0003g0079 a0001c0003t0003g0082 a0001c0004t0004g0039 a0001c0015t0003g0067 a0001c0017t0003g0056	11	326	0.0337	20	c.220 others(39): Show c.2208+2766_2208+2785dupGTGTGTGTGTGTGTGTGTGT	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	14/20			chr10	TogoVar
DNAAF10_chr2_68124805_68162527	68130111	G G	GATATATA others(13): Show GATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0036 a0001c0005t0036	a0001c0005t0036g0269 a0001c0005t0036g0269	1	432	0.0023	20	c.11 others(31): Show c.1126_*1127insATATATATATATATATATAT	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8	1126		chr2	TogoVar
DNAAF11_chr8_132565416_132680545	132593332	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	276	0.0036	20	c.114 others(39): Show c.1141-9573_1141-9554dupATATATATATATATATATAT	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	10/11			chr8	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTCT others(13): Show CTCTCTCTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0415 a0007c0010t0004g0415	1	456	0.0022	20	c.125 others(35): Show c.125-410_125-409insCTCTCTCTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(13): Show CTCTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0039 a0005c0009t0001g0039	1	456	0.0022	20	c.125 others(35): Show c.125-410_125-409insCTCTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0243 a0003c0007t0007g0243	1	456	0.0022	20	c.125 others(35): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84168827	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0307 a0002c0002t0001g0307	1	456	0.0022	20	c.103 others(39): Show c.1031-1021_1031-1002dupACACACACACACACACACAC	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF2_chr14_49620174_49640244	49630234	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0053 a0003c0003t0001g0053	1	352	0.0028	20	c.186 others(39): Show c.1864-2099_1864-2080dupATTTATTTATTTATTTATTT	DNAAF2	ENSG00000165506.15	transcript	ENST00000298292.13	protein_coding	1/2			chr14	TogoVar
DNAAF2_chr14_49620174_49640244	49630669	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01070.hp2 others(13): Show HG00323.hp2 HG00735.hp2 HG01070.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02486.hp1 HG02559.hp1 HG02970.hp1 HG03225.hp1 HG03239.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0025 a0003c0003t0001g0033 others(6): Show a0003c0003t0001g0009 a0003c0003t0001g0025 a0003c0003t0001g0033 a0003c0003t0001g0052 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0061 a0003c0003t0001g0064 a0003c0003t0001g0065	16	352	0.0455	20	c.186 others(39): Show c.1864-2534_1864-2515dupTGTGTGTGTGTGTGTGTGTG	DNAAF2	ENSG00000165506.15	transcript	ENST00000298292.13	protein_coding	1/2			chr14	TogoVar
DNAAF3_chr19_55153665_55171613	55167634	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAGAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp1 others(16): Show HG00639.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01256.hp2 HG01891.hp1 HG01934.hp2 HG02027.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03471.hp2 NA18969.hp2 NA18979.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0006 a0003c0002 a0002c0003 a0002c0006 a0003c0002	a0002c0003t0001 a0002c0006t0001 a0003c0002t0001 a0002c0003t0001 a0002c0006t0001 a0003c0002t0001	a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0041 others(9): Show a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0041 a0002c0003t0001g0078 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0120 a0002c0006t0001g0042 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0023 a0003c0002t0001g0040	19	398	0.0477	20	c.-11 others(31): Show c.-1117_-1116insCTTTTTTCTTTTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1022		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0072 a0002c0003t0001g0072	1	398	0.0025	20	c.-18 others(31): Show c.-1889_-1888insCTCTCTCTCTCTCTCTATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATATA others(13): Show TATATATATGGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0056 a0004c0005t0001g0163 a0004c0005t0001g0056 a0004c0005t0001g0163	2	398	0.0050	20	c.-18 others(31): Show c.-1889_-1888insCTCTCTCTCTCCATATATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55169933	G G	GTATTTAT others(13): Show GTATTTATTTATTTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(66): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02572.hp1 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18998.hp1 NA19003.hp1 NA19010.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp2 NA19086.hp2 NA19091.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0011	a0001c0001 a0002c0003 a0003c0002 others(3): Show a0001c0001 a0002c0003 a0003c0002 a0004c0005 a0005c0008 a0011c0015	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0004c0005t0001 a0005c0008t0001 a0011c0015t0001	a0001c0001t0001g0125 a0002c0003t0001g0072 a0003c0002t0001g0002 others(15): Show a0001c0001t0001g0125 a0002c0003t0001g0072 a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0023 a0003c0002t0001g0039 a0003c0002t0001g0040 a0003c0002t0001g0044 a0003c0002t0001g0077 a0003c0002t0001g0080 a0003c0002t0001g0084 a0003c0002t0001g0086 a0003c0002t0001g0093 a0004c0005t0001g0163 a0005c0008t0001g0038 a0011c0015t0001g0085	69	398	0.1734	20	c.-34 others(31): Show c.-3416_-3415insAATAAATAAATAAATAAATA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3321		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170850	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02071.hp1 HG02074.hp1 others(9): Show HG01109.hp1 HG02071.hp1 HG02074.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03486.hp1 HG03654.hp1 HG03831.hp2 HG04199.hp1 NA19060.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0003c0002 a0006c0014	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0003c0002t0001 a0006c0014t0001	a0001c0001t0001g0018 a0001c0004t0001g0045 a0001c0004t0001g0102 others(6): Show a0001c0001t0001g0018 a0001c0004t0001g0045 a0001c0004t0001g0102 a0001c0004t0001g0103 a0002c0003t0001g0037 a0002c0003t0001g0082 a0003c0002t0001g0008 a0003c0002t0001g0084 a0006c0014t0001g0091	12	398	0.0302	20	c.-43 others(31): Show c.-4333_-4332insGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4238		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55455387	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp1 others(5): Show HG00738.hp2 HG01069.hp1 HG01071.hp1 HG03130.hp2 NA18945.hp1 NA18957.hp2 NA19004.hp2 NA19081.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0005 a0001c0001 a0003c0003 a0004c0005	a0001c0001t0002 a0003c0003t0001 a0004c0005t0002 a0001c0001t0002 a0003c0003t0001 a0004c0005t0002	a0001c0001t0002g0261 a0003c0003t0001g0010 a0003c0003t0001g0027 others(5): Show a0001c0001t0002g0261 a0003c0003t0001g0010 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0049 a0004c0005t0002g0278 a0004c0005t0002g0281 a0004c0005t0002g0282	8	338	0.0237	20	c.638 others(37): Show c.638-5040_638-5021dupATATATATATATATATATAT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	5/9			chr15	TogoVar
DNAAF4_chr15_55425308_55513234	55498593	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02572.hp2 HG02723.hp1 others(5): Show HG02027.hp2 HG02572.hp2 HG02723.hp1 HG02886.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0002 a0004c0005t0003 a0003c0003t0002 a0004c0005t0003	a0003c0003t0002g0307 a0003c0003t0002g0308 a0003c0003t0002g0309 others(5): Show a0003c0003t0002g0307 a0003c0003t0002g0308 a0003c0003t0002g0309 a0003c0003t0002g0310 a0003c0003t0002g0311 a0003c0003t0002g0319 a0004c0005t0003g0300 a0004c0005t0003g0301	8	338	0.0237	20	c.-25 others(35): Show c.-255-29_-255-10dupTTTTTTTTTTTTTTTTTTTT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	1/9			chr15	TogoVar
DNAAF6_chrX_107201611_107249247	107204721	T T	TTTAAATA others(13): Show TTTAAATAAATTTTAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	296	0.0034	20	c.-19 others(31): Show c.-1973_-1972insTTAAATAAATTTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1889		chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204845	T T	TTTAAATA others(13): Show TTTAAATAAATTTTAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02698.hp1 others(1): Show HG01069.hp1 HG01071.hp1 HG02698.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0099	4	296	0.0135	20	c.-18 others(31): Show c.-1849_-1848insTTAAATAAATTTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1765		chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3268897	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02886.hp2 HG01433.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0001t0007g0314 a0001c0001t0007g0315	2	362	0.0055	20	c.278 others(39): Show c.2786+1510_2786+1529dupAAAAAAAAAAAAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	30/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3310333	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp2 others(25): Show HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00733.hp2 HG00741.hp2 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01361.hp1 HG02027.hp2 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02818.hp1 HG02895.hp1 NA18941.hp1 NA18942.hp2 NA18950.hp2 NA18953.hp1 NA18967.hp2 NA18977.hp2 NA18981.hp2 NA18984.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0013 a0001c0004t0003 a0002c0005t0032	a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0221 others(25): Show a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0294 a0001c0001t0011g0219 a0001c0002t0002g0063 a0001c0002t0002g0117 a0001c0002t0002g0131 a0001c0002t0002g0138 a0001c0002t0002g0148 a0001c0002t0002g0152 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0201 a0001c0002t0002g0345 a0001c0003t0005g0358 a0001c0003t0006g0009 a0001c0003t0013g0360 a0001c0004t0003g0084 a0002c0005t0032g0277	28	362	0.0774	20	c.167 others(39): Show c.1678+4680_1678+4699dupCTTTCTTTCTTTCTTTCTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3310388	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	362	0.0028	20	c.167 others(39): Show c.1678+4644_1678+4645insATTCTTTCTTTCTTTCTTTC	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3328188	T T	TTTTTTTT others(13): Show TTTTTTTTTTTGTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0005 a0001c0008t0015g0006 a0001c0008t0015g0005 a0001c0008t0015g0006	2	362	0.0055	20	c.110 others(39): Show c.1101-1905_1101-1904insCAAAACAAACAAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	12/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3365373	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0361 a0001c0003t0013g0361	1	362	0.0028	20	c.613 others(37): Show c.613-5800_613-5781dupTAAATAAATAAATAAATAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	6/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3408059	T T	TCCAGCGC others(13): Show TCCAGCGCACCTCCCCAGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG01358.hp1 others(34): Show HG01074.hp1 HG01175.hp2 HG01358.hp1 HG01433.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18944.hp1 NA18981.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19067.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0012 a0001c0020 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0002t0014 a0001c0002t0016 a0001c0002t0021 a0001c0002t0027 a0001c0002t0029 a0001c0002t0033 a0001c0003t0009 a0001c0003t0012 a0001c0003t0013 a0001c0006t0008 a0001c0006t0023 a0001c0006t0025 a0001c0008t0015 a0001c0012t0002 a0001c0020t0024 a0002c0005t0010	a0001c0001t0001g0278 a0001c0001t0003g0127 a0001c0001t0007g0311 others(34): Show a0001c0001t0001g0278 a0001c0001t0003g0127 a0001c0001t0007g0311 a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0002t0002g0126 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0178 a0001c0002t0014g0002 a0001c0002t0014g0003 a0001c0002t0016g0125 a0001c0002t0021g0001 a0001c0002t0027g0129 a0001c0002t0029g0179 a0001c0002t0033g0147 a0001c0003t0009g0044 a0001c0003t0009g0045 a0001c0003t0012g0031 a0001c0003t0012g0033 a0001c0003t0012g0039 a0001c0003t0013g0360 a0001c0003t0013g0361 a0001c0003t0013g0362 a0001c0006t0008g0352 a0001c0006t0008g0353 a0001c0006t0008g0354 a0001c0006t0008g0356 a0001c0006t0023g0004 a0001c0006t0025g0355 a0001c0008t0015g0005 a0001c0008t0015g0006 a0001c0012t0002g0165 a0001c0020t0024g0067 a0002c0005t0010g0289	37	362	0.1022	20	c.-50 others(29): Show c.-503_-502insGTACTGGGGAGGTGCGCTGG	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding		391		chr20	TogoVar
DNAH10_chr12_123757301_123940714	123765564	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	170	0.0059	20	c.215 others(37): Show c.215-2026_215-2007dupCTATCTATCTATCTATCTAT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	1/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123766287	G G	GCCTACCT others(13): Show GCCTACCTACCTACCTACCTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02486.hp2 HG02559.hp1	a0001 a0008 a0001 a0008	a0001c0059 a0008c0008 a0001c0059 a0008c0008	a0001c0059t0002 a0008c0008t0001 a0001c0059t0002 a0008c0008t0001	a0001c0059t0002g0014 a0008c0008t0001g0013 a0001c0059t0002g0014 a0008c0008t0001g0013	2	170	0.0118	20	c.215 others(37): Show c.215-1311_215-1292dupACCTACCTACCTACCTACCT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	1/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123782329	G G	GCCTCCCC others(13): Show GCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02809.hp2 others(2): Show HG02258.hp2 HG02280.hp2 HG02809.hp2 HG02965.hp2 HG03471.hp1	a0011 a0026 a0071 a0011 a0026 a0071	a0011c0028 a0011c0084 a0026c0077 others(1): Show a0011c0028 a0011c0084 a0026c0077 a0071c0085	a0011c0028t0001 a0011c0084t0002 a0026c0077t0002 others(1): Show a0011c0028t0001 a0011c0084t0002 a0026c0077t0002 a0071c0085t0001	a0011c0028t0001g0067 a0011c0028t0001g0084 a0011c0084t0002g0104 others(2): Show a0011c0028t0001g0067 a0011c0028t0001g0084 a0011c0084t0002g0104 a0026c0077t0002g0163 a0071c0085t0001g0066	5	170	0.0294	20	c.842 others(35): Show c.842-769_842-750dupCCCCTCCCCTCCCCTCCCCT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	6/78		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)