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
ACOX2_chr3_58500136_58542190	58541624	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01346.hp1 HG01433.hp1 others(7): Show HG01175.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG02040.hp1 HG02280.hp1 HG02615.hp1 HG02738.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0028 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0165 a0001c0001t0001g0189 a0001c0001t0001g0211 a0001c0001t0001g0238 a0001c0004t0001g0043	10	364	0.0275	18	c.-45 others(29): Show c.-4598_-4597insCACACACACACACACACA	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding		4435		chr3	TogoVar
ACOX3_chr4_8361282_8445723	8391031	G G	GTGTATAT others(11): Show GTGTATATGTATATGTATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00673.hp2 others(15): Show HG00280.hp1 HG00423.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01346.hp2 HG02056.hp2 HG04115.hp1 NA18944.hp1 NA18952.hp1 NA18957.hp1 NA19000.hp2 NA19004.hp2 NA19058.hp2 NA19070.hp2 NA19074.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0015 a0009c0013 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0003t0003 a0001c0005t0002 a0001c0007t0003 a0002c0015t0002 a0009c0013t0002 a0010c0014t0001	a0001c0001t0001g0171 a0001c0001t0001g0218 a0001c0001t0002g0127 others(15): Show a0001c0001t0001g0171 a0001c0001t0001g0218 a0001c0001t0002g0127 a0001c0001t0002g0192 a0001c0001t0010g0224 a0001c0001t0013g0183 a0001c0002t0001g0128 a0001c0003t0003g0260 a0001c0005t0002g0146 a0001c0005t0002g0150 a0001c0005t0002g0167 a0001c0005t0002g0168 a0001c0005t0002g0182 a0001c0007t0003g0263 a0001c0007t0003g0264 a0002c0015t0002g0369 a0009c0013t0002g0225 a0010c0014t0001g0160	18	380	0.0474	18	c.130 others(37): Show c.1300+1284_1301-1298dupTATACATATACATATACA	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	11/17			chr4	TogoVar
ACOX3_chr4_8361282_8445723	8395665	C C	CCTTGGTG others(11): Show CCTTGGTGGTAAGGCCAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03516.hp2 NA19240.hp1 HG02615.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0003 a0001c0003t0001 a0001c0006t0003	a0001c0003t0001g0371 a0001c0003t0001g0372 a0001c0006t0003g0270 a0001c0003t0001g0371 a0001c0003t0001g0372 a0001c0006t0003g0270	3	380	0.0079	18	c.105 others(35): Show c.1057-924_1057-923insCTTGGCCTTACCACCAAG	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	9/17			chr4	TogoVar
ACOXL_chr2_110727573_111123548	110768492	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	150	0.0067	18	c.75+ others(29): Show c.75+33_75+50dupTGTGTGTGTGTGTGTGTG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110768513	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	150	0.0067	18	c.75+ others(29): Show c.75+50_75+51insTGTGTGTGTGTGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110811730	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02976.hp2 HG02027.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0101 a0001c0001t0001g0058 a0001c0001t0002g0101	2	150	0.0133	18	c.753 others(35): Show c.753+6374_753+6391dupACACACACACACACACAC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110846636	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18974.hp1 HG03831.hp1 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0080 a0002c0002t0001g0051 a0001c0001t0001g0080 a0002c0002t0001g0051	2	150	0.0133	18	c.788 others(35): Show c.788+5235_788+5236insACACACACACACACACAC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110846641	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01981.hp1 HG02109.hp1 others(7): Show HG01255.hp2 HG01981.hp1 HG02109.hp1 HG02145.hp2 HG03471.hp2 HG03669.hp1 NA18950.hp2 NA18956.hp2 NA18998.hp2 NA19011.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0002c0019 others(2): Show a0001c0001 a0002c0002 a0002c0019 a0003c0004 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0019t0001 a0003c0004t0004 a0008c0008t0001	a0001c0001t0001g0138 a0001c0001t0002g0076 a0001c0001t0002g0078 others(7): Show a0001c0001t0001g0138 a0001c0001t0002g0076 a0001c0001t0002g0078 a0002c0002t0001g0054 a0002c0002t0001g0135 a0002c0002t0002g0059 a0002c0019t0001g0095 a0003c0004t0004g0140 a0008c0008t0001g0015 a0008c0008t0001g0016	10	150	0.0667	18	c.788 others(35): Show c.788+5253_788+5270dupCACACACACACACACACA	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110846641	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	150	0.0067	18	c.788 others(35): Show c.788+5237_788+5238insGCACACACACACACACAC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110988857	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0026 a0003c0004t0001g0026	1	150	0.0067	18	c.116 others(37): Show c.1169+1660_1169+1677dupGTGTGTGTGTGTGTGTGT	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	111003550	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp2 HG00673.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0077 a0001c0001t0001g0029 a0001c0001t0001g0077	2	150	0.0133	18	c.128 others(37): Show c.1281+7558_1281+7575dupAAAAAAAAAAAAAAAAAA	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	111096224	A A	AATTATTA others(11): Show AATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0124 a0004c0005t0002g0124	1	150	0.0067	18	c.154 others(37): Show c.1542+3271_1542+3288dupATTATTATTATTATTATT	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	111120979	T T	TGCCGCTG others(11): Show TGCCGCTGCCGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG03579.hp2 HG00140.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0017t0002 a0001c0001t0002 a0001c0017t0002	a0001c0001t0002g0048 a0001c0017t0002g0073 a0001c0001t0002g0048 a0001c0017t0002g0073	2	150	0.0133	18	c.31 others(29): Show c.3163_*3164insGCCGCTGCCGCCGCCGCC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding		2432		chr2	TogoVar
ACP2_chr11_47234302_47253814	47245857	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01243.hp1 others(18): Show HG00558.hp1 HG00642.hp1 HG01243.hp1 HG02080.hp1 HG02145.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02809.hp1 HG02818.hp2 HG03209.hp1 HG03579.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp2 NA18978.hp2 NA19056.hp1 NA19067.hp2 NA19080.hp1 NA19087.hp2 NA19089.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0020 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 a0004c0004t0001g0037	21	358	0.0587	18	c.298 others(31): Show c.298-41_298-24dupACACACACACACACACAC	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	3/10			chr11	TogoVar
ACP2_chr11_47234302_47253814	47253134	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02257.hp1 others(7): Show HG01109.hp2 HG02145.hp1 HG02257.hp1 HG02559.hp1 HG02896.hp1 HG02976.hp1 HG03098.hp1 HG03579.hp1 NA19240.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0061 a0003c0005t0001g0060	10	358	0.0279	18	c.-43 others(29): Show c.-4346_-4345insACACACACACACACACAC	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding		4321		chr11	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp1 HG01496.hp2 others(19): Show HG00323.hp2 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp2 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02647.hp1 HG02698.hp2 HG02895.hp2 HG02965.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03942.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0001t0028 a0001c0002t0018 a0001c0003t0006	a0001c0001t0001g0032 a0001c0001t0001g0245 a0001c0001t0001g0246 others(17): Show a0001c0001t0001g0032 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0008g0158 a0001c0001t0009g0156 a0001c0001t0009g0164 a0001c0001t0010g0014 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0037 a0001c0001t0010g0241 a0001c0001t0016g0081 a0001c0001t0019g0083 a0001c0001t0028g0110 a0001c0002t0018g0143 a0001c0003t0006g0017 a0001c0003t0006g0070 a0001c0003t0006g0071 a0001c0003t0006g0072	22	368	0.0598	18	c.121 others(35): Show c.121-2665_121-2648dupACACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132347844	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp1 HG01934.hp1 others(7): Show HG00738.hp1 HG01255.hp1 HG01934.hp1 HG01993.hp2 HG02056.hp2 HG02293.hp2 HG02738.hp2 HG03654.hp2 HG04115.hp2 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011	a0001c0002t0003g0039 a0001c0002t0003g0055 a0001c0002t0004g0047 others(7): Show a0001c0002t0003g0039 a0001c0002t0003g0055 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0092 a0001c0002t0004g0124 a0001c0002t0004g0139 a0001c0002t0011g0099 a0001c0002t0011g0256 a0001c0002t0011g0279	10	368	0.0272	18	c.782 others(35): Show c.782-2065_782-2048dupACACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02523.hp2 NA18952.hp1 others(5): Show HG02258.hp2 HG02523.hp2 NA18952.hp1 NA18954.hp2 NA18983.hp1 NA18986.hp1 NA19070.hp2 NA19077.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0001 a0009c0017t0001 a0001c0001t0001 a0009c0017t0001	a0001c0001t0001g0011 a0009c0017t0001g0077 a0001c0001t0001g0011 a0009c0017t0001g0077	8	444	0.0180	18	c.735 others(33): Show c.735+219_735+236dupTTTTTTTTTTTTTTTTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACP7_chr19_39079368_39116493	39093142	T T	TGCTTTCT others(11): Show TGCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01891.hp1 others(13): Show HG01109.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02622.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0008 others(1): Show a0001c0005 a0001c0006 a0001c0008 a0001c0009	a0001c0005t0010 a0001c0006t0008 a0001c0006t0009 others(2): Show a0001c0005t0010 a0001c0006t0008 a0001c0006t0009 a0001c0008t0009 a0001c0009t0026	a0001c0005t0010g0202 a0001c0006t0008g0019 a0001c0006t0008g0020 others(13): Show a0001c0005t0010g0202 a0001c0006t0008g0019 a0001c0006t0008g0020 a0001c0006t0008g0022 a0001c0006t0008g0023 a0001c0006t0008g0024 a0001c0006t0008g0025 a0001c0006t0008g0026 a0001c0006t0008g0103 a0001c0006t0008g0111 a0001c0006t0009g0016 a0001c0006t0009g0017 a0001c0006t0009g0018 a0001c0008t0009g0141 a0001c0008t0009g0142 a0001c0009t0026g0205	16	402	0.0398	18	c.122 others(35): Show c.122-5316_122-5315insGCTTTCTTTCTTTCTTTC	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12			chr19	TogoVar
ACP7_chr19_39079368_39116493	39102767	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02074.hp1 HG02572.hp1 others(7): Show HG01891.hp2 HG02074.hp1 HG02572.hp1 HG03486.hp1 HG04184.hp1 NA18975.hp2 NA18980.hp2 NA19000.hp2 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0006 a0001c0003t0006 a0001c0004t0004 others(2): Show a0001c0001t0006 a0001c0003t0006 a0001c0004t0004 a0001c0004t0005 a0001c0006t0008	a0001c0001t0006g0094 a0001c0003t0006g0352 a0001c0004t0004g0035 others(7): Show a0001c0001t0006g0094 a0001c0003t0006g0352 a0001c0004t0004g0035 a0001c0004t0004g0048 a0001c0004t0004g0051 a0001c0004t0004g0052 a0001c0004t0004g0054 a0001c0004t0004g0086 a0001c0004t0005g0162 a0001c0006t0008g0023	10	402	0.0249	18	c.111 others(37): Show c.1113+1231_1113+1232insTTCTTTCTTTCTTTCTTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACRV1_chr11_125666522_125685847	125678978	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp1 HG01975.hp2 others(9): Show HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02148.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG03471.hp2 HG03492.hp2 HG03831.hp1 NA18906.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0069 a0001c0001t0001g0128 a0001c0001t0002g0019 others(5): Show a0001c0001t0001g0069 a0001c0001t0001g0128 a0001c0001t0002g0019 a0001c0001t0002g0089 a0001c0001t0002g0112 a0001c0001t0002g0124 a0001c0001t0007g0090 a0001c0001t0008g0065	12	426	0.0282	18	c.53- others(31): Show c.53-699_53-682dupTATATATATATATATATA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACRV1_chr11_125666522_125685847	125678997	T T	TATATATA others(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	426	0.0024	18	c.53- others(31): Show c.53-701_53-700insCTATATATATATATATAT	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACSBG1_chr15_78162468_78239565	78215727	A A	AAAGAAAG others(11): Show AAAGAAAGAAAGAAAGGAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0299 a0002c0003t0001g0299	1	350	0.0029	18	c.132 others(35): Show c.132-7626_132-7625insCTCCTTTCTTTCTTTCTT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78235958	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0192 a0002c0005t0005g0192	1	350	0.0029	18	c.-14 others(29): Show c.-1475_-1458dupGTGTGTGTGTGTGTGTGT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding		1394		chr15	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG03139.hp1 HG02723.hp1 HG03098.hp1 HG03139.hp1	a0005 a0012 a0005 a0012	a0005c0006 a0012c0021 a0005c0006 a0012c0021	a0005c0006t0001 a0012c0021t0001 a0005c0006t0001 a0012c0021t0001	a0005c0006t0001g0025 a0005c0006t0001g0026 a0012c0021t0001g0100 a0005c0006t0001g0025 a0005c0006t0001g0026 a0012c0021t0001g0100	3	262	0.0115	18	c.738 others(33): Show c.738+299_738+316dupGTGTGTGTGTGTGTGTGT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TTGTGTGT others(11): Show TTGTGTGTGTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG03209.hp1 HG01891.hp1 HG02895.hp2 HG03209.hp1	a0004 a0011 a0013 a0004 a0011 a0013	a0004c0003 a0011c0009 a0013c0016 a0004c0003 a0011c0009 a0013c0016	a0004c0003t0002 a0011c0009t0002 a0013c0016t0001 a0004c0003t0002 a0011c0009t0002 a0013c0016t0001	a0004c0003t0002g0138 a0011c0009t0002g0164 a0013c0016t0001g0014 a0004c0003t0002g0138 a0011c0009t0002g0164 a0013c0016t0001g0014	3	262	0.0115	18	c.738 others(33): Show c.738+274_738+275insTTGTGTGTGTGTGTGTGT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6184856	A A	AAAACAAA others(11): Show AAAACAAAACAAAACAAAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0133 a0003c0005t0001g0133	1	262	0.0038	18	c.132 others(35): Show c.1323-577_1323-576insCAAAACAAAACAAACAAA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSF2_chr17_50421218_50479837	50461951	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG01243.hp2 HG02145.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0263 a0002c0008t0001g0264 a0002c0008t0001g0263 a0002c0008t0001g0264	2	320	0.0063	18	c.508 others(33): Show c.508-232_508-231insTGTGTGTGTGTGTGCGCG	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
ACSL5_chr10_112369116_112433376	112423205	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	364	0.0028	18	c.159 others(35): Show c.1593+765_1593+766insTATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02040.hp1 HG01081.hp2 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0183 a0001c0003t0001g0152 a0001c0003t0001g0183	2	318	0.0063	18	c.612 others(33): Show c.612-801_612-800insATATATATATTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431945	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01978.hp1 others(16): Show HG00140.hp2 HG01074.hp2 HG01978.hp1 HG02698.hp2 HG03669.hp1 HG04204.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18971.hp1 NA18972.hp2 NA18990.hp1 NA18995.hp2 NA19005.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19087.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0003 a0005c0005t0009 a0003c0003t0003 a0005c0005t0009	a0003c0003t0003g0008 a0003c0003t0003g0080 a0003c0003t0003g0095 others(14): Show a0003c0003t0003g0008 a0003c0003t0003g0080 a0003c0003t0003g0095 a0003c0003t0003g0109 a0003c0003t0003g0110 a0003c0003t0003g0111 a0003c0003t0003g0112 a0003c0003t0003g0169 a0003c0003t0003g0198 a0003c0003t0003g0204 a0003c0003t0003g0205 a0003c0003t0003g0206 a0003c0003t0003g0228 a0003c0003t0003g0293 a0005c0005t0009g0335 a0005c0005t0009g0336 a0005c0005t0009g0337	19	434	0.0438	18	c.130 others(35): Show c.1308+626_1308+627insTAATAATAATAATAATAA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TCTTTCTT others(11): Show TCTTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03195.hp2 HG01081.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0277 a0001c0002t0002g0012 a0001c0001t0001g0277 a0001c0002t0002g0012	2	312	0.0064	18	c.375 others(37): Show c.375-13673_375-13672insCTTTCTTTCCTTCCTTCC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17			chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTCTT others(11): Show TTTCTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02145.hp2 HG02273.hp2 others(6): Show HG02040.hp2 HG02145.hp2 HG02273.hp2 HG02622.hp1 HG02735.hp2 HG03098.hp2 NA18964.hp1 NA18979.hp1 NA18993.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0219 others(6): Show a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0267 a0001c0001t0001g0286 a0001c0001t0001g0294 a0001c0001t0001g0299 a0006c0012t0001g0011	9	312	0.0289	18	c.375 others(37): Show c.375-13670_375-13669insTCTTTCTTTCCTTCCTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTTTC others(11): Show TTTCTTTCTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0147 a0002c0004t0001g0147	1	312	0.0032	18	c.375 others(37): Show c.375-13670_375-13669insTTTCTCTTTCCTTCCTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTTTC others(11): Show TTTCTTTCTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0017 a0003c0005t0001g0017	1	312	0.0032	18	c.375 others(37): Show c.375-13670_375-13669insTTTCTCTTTCTTTCCTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81098129	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0041 a0002c0015t0003g0041	1	290	0.0035	18	c.312 others(37): Show c.312-11425_312-11408dupAGAGAGAGAGAGAGAGAG	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81121915	A A	ATATTATT others(11): Show ATATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0018 a0001c0013t0018	a0001c0013t0018g0290 a0001c0013t0018g0290	1	290	0.0035	18	c.456 others(37): Show c.456+12228_456+12245dupATTATTATTATTATTATT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTCTTT others(11): Show CTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19002.hp2 HG02055.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0160 a0001c0001t0008g0074 a0001c0001t0001g0160 a0001c0001t0008g0074	2	290	0.0069	18	c.135 others(37): Show c.1355-2941_1355-2940insCTTTCTTTCTTTCTTTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTTCTT others(11): Show CTCTTCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	290	0.0035	18	c.135 others(37): Show c.1355-2940_1355-2939insCTTCTTTCTTTCTTTCTT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02055.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0205 a0001c0001t0028g0038 a0001c0001t0001g0205 a0001c0001t0028g0038	2	290	0.0069	18	c.135 others(37): Show c.1355-2943_1355-2942insTTCTTTCTTTCTTTCTTT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA2_chr10_88930074_88957773	88932032	G G	GATTATTA others(11): Show GATTATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02145.hp1 others(12): Show HG01081.hp1 HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03139.hp1 NA19043.hp2 NA19059.hp1 NA19087.hp2 NA19089.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0074	15	402	0.0373	18	c.31 others(29): Show c.3173_*3190dupAATAATAATAATAATAAT	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3041		chr10	TogoVar
ACTG2_chr2_73888008_73924865	73904777	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG01884.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0391 a0001c0001t0005g0392 a0001c0001t0005g0391 a0001c0001t0005g0392	2	416	0.0048	18	c.255 others(35): Show c.255+2290_255+2291insGTGTGTATATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTL6A_chr3_179557926_179593407	179579455	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19012.hp2 NA18998.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0058 a0001c0001t0001g0059	2	380	0.0053	18	c.769 others(35): Show c.769-1167_769-1150dupCACACACACACACACACA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL6B_chr7_100638097_100661448	100656640	A A	AGGAAAGC others(11): Show AGGAAAGCAGGGAAGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02886.hp1 others(1): Show HG01884.hp1 HG02451.hp2 HG02886.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0044 a0001c0001t0001g0086 a0001c0001t0001g0087	4	360	0.0111	18	c.-28 others(27): Show c.-287_-286insGCCTCTTCCCTGCTTTCC	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding		193		chr7	TogoVar
ACTL6B_chr7_100638097_100661448	100656640	A A	AGGAGAGC others(11): Show AGGAGAGCAGGGAAGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00609.hp1 others(56): Show HG00099.hp1 HG00408.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01358.hp1 HG01981.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03540.hp2 HG03831.hp2 NA18522.hp2 NA18939.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19060.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0001t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(39): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0248 a0001c0001t0003g0045 a0001c0004t0001g0074	59	360	0.1639	18	c.-28 others(27): Show c.-287_-286insGCCTCTTCCCTGCTCTCC	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding		193		chr7	TogoVar
ACTL8_chr1_17750333_17832063	17800583	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp2 HG03098.hp2 others(1): Show HG02257.hp1 HG02818.hp2 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0001 a0001c0003t0001 a0001c0008t0001	a0001c0003t0001g0012 a0001c0003t0001g0188 a0001c0008t0001g0109 others(1): Show a0001c0003t0001g0012 a0001c0003t0001g0188 a0001c0008t0001g0109 a0001c0008t0001g0352	4	366	0.0109	18	c.-24 others(37): Show c.-24-22392_-24-22375dupTTTTTTTTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17802424	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	366	0.0027	18	c.-24 others(37): Show c.-24-20550_-24-20533dupGTGTGTGTGTGTGTGTGT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL9_chr19_8692400_8703795	8694853	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02004.hp2 HG02280.hp2 others(6): Show HG01361.hp2 HG02004.hp2 HG02280.hp2 HG02293.hp1 HG02630.hp1 HG02818.hp2 HG03453.hp1 HG03834.hp2 NA18961.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 a0003c0003t0001g0000	9	356	0.0253	18	c.25 others(29): Show c.2597_*2598insCTCTCTCTCTCTCTCTCT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar
ACTN2_chr1_236681499_236769631	236709220	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0135 a0001c0001t0006g0135	1	344	0.0029	18	c.127 others(35): Show c.127-8637_127-8636insGTGTGTGTATATATATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(11): Show GGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19010.hp2 NA19009.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0039 a0001c0001t0003g0021 a0001c0001t0003g0039	2	344	0.0058	18	c.448 others(33): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar

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Search Results (Total: 10000 hits)