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
A2M_chr12_9062708_9120919	9120852	C C	CATGTGTG others(19): Show CATGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0039 a0001c0022t0002g0039	1	332	0.0030	26	c.-50 others(37): Show c.-5004_-5003insACACACACACACACACACACACACAT	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02630.hp2 HG02922.hp2 others(2): Show HG01433.hp1 HG02630.hp2 HG02922.hp2 HG03195.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0004g0264 a0001c0001t0004g0268 a0002c0003t0001g0337 others(2): Show a0001c0001t0004g0264 a0001c0001t0004g0268 a0002c0003t0001g0337 a0002c0003t0001g0388 a0002c0003t0001g0389	5	406	0.0123	26	c.-18 others(45): Show c.-187-7501_-187-7476dupCACACACACACACACACACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AADACL4_chr1_12639085_12672076	12658166	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp1 HG03486.hp1 others(1): Show HG02055.hp2 HG03041.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0140 a0001c0001t0002g0041 a0001c0001t0002g0063 others(1): Show a0001c0001t0001g0140 a0001c0001t0002g0041 a0001c0001t0002g0063 a0001c0002t0004g0055	4	310	0.0129	26	c.386 others(43): Show c.386-3624_386-3623insCTTTCTTTCTTTCTTTCTTTCTTTCT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AAGAB_chr15_67195667_67259661	67195670	C C	CCCACAGG others(19): Show CCCACAGGCATGGAGGTTCACAAGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0158 a0002c0002t0013g0158	1	380	0.0026	26	c.71 others(37): Show c.7150_*7151insTTACTTGTGAACCTCCATGCCTGTGG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding		4996		chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0202 a0002c0002t0003g0202	1	380	0.0026	26	c.535 others(43): Show c.535+9546_535+9571dupTGTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACAC others(19): Show GCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0159 a0002c0002t0003g0159	1	380	0.0026	26	c.535 others(43): Show c.535+9571_535+9572insTGTGTGTGTGTGTGTGTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02486.hp2 NA18943.hp2 others(4): Show HG02004.hp1 HG02486.hp2 NA18943.hp2 NA18964.hp2 NA18969.hp1 NA19005.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0166 others(4): Show a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0183 a0002c0002t0003g0194 a0002c0002t0003g0211	7	380	0.0184	26	c.535 others(43): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67241040	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19086.hp1 NA18991.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0234 a0001c0001t0005g0235	2	380	0.0053	26	c.74- others(41): Show c.74-4246_74-4221dupGTGTGTGTGTGTGTGTGTGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03654.hp1 HG04228.hp1 HG00323.hp2 HG03654.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0139 a0001c0004t0153 a0002c0002t0049 a0001c0001t0139 a0001c0004t0153 a0002c0002t0049	a0001c0001t0139g0231 a0001c0004t0153g0296 a0002c0002t0049g0047 a0001c0001t0139g0231 a0001c0004t0153g0296 a0002c0002t0049g0047	3	298	0.0101	26	c.236 others(45): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0003 a0002c0002t0015g0003	1	298	0.0034	26	c.227 others(45): Show c.2270-4619_2270-4618insGTATATATATATATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02615.hp1 HG02615.hp2 others(6): Show HG01109.hp2 HG02615.hp1 HG02615.hp2 HG02896.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 others(6): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0124 a0001c0001t0002g0292 a0001c0001t0002g0311 a0001c0001t0002g0313	9	362	0.0249	26	c.-41 others(37): Show c.-4199_-4198insAAAAAAAAAAAAAAAAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCTCAC others(19): Show TCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	382	0.0026	26	c.351 others(41): Show c.351+827_351+828insTGTGTGTGTGTGTGTGTGTGTGAGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AATK_chr17_81112295_81171221	81119240	A A	AGGAGCGG others(19): Show AGGAGCGGGGCCGGGAAGGAGCGGAGC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0083 a0001c0004t0002g0083	1	368	0.0027	26	c.408 others(43): Show c.4084+114_4084+139dupGCTCCGCTCCTTCCCGGCCCCGCTCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG01099.hp1 others(14): Show HG00408.hp2 HG00544.hp1 HG01099.hp1 HG01175.hp1 HG01175.hp2 HG01952.hp1 HG02004.hp2 HG02976.hp1 NA18747.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19011.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0002c0002t0002 a0002c0002t0003 a0002c0005t0004 a0002c0005t0015	a0001c0001t0001g0038 a0001c0001t0001g0163 a0001c0001t0001g0253 others(14): Show a0001c0001t0001g0038 a0001c0001t0001g0163 a0001c0001t0001g0253 a0001c0001t0002g0057 a0001c0001t0002g0116 a0001c0001t0003g0077 a0001c0001t0005g0063 a0001c0003t0001g0240 a0001c0003t0001g0252 a0001c0003t0002g0249 a0001c0003t0003g0064 a0001c0003t0003g0175 a0002c0002t0002g0006 a0002c0002t0002g0152 a0002c0002t0003g0094 a0002c0005t0004g0194 a0002c0005t0015g0084	17	362	0.0470	26	c.-41 others(45): Show c.-41-24969_-41-24968insAGAGAGAGAGAGGGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723809	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0128 a0002c0004t0001g0128	1	362	0.0028	26	c.-41 others(45): Show c.-41-11871_-41-11870insATATATATATATATATATATATATAT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG04184.hp2 HG02132.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0140 a0002c0004t0001g0066 a0002c0002t0001g0140 a0002c0004t0001g0066	2	362	0.0055	26	c.71- others(41): Show c.71-2556_71-2555insTATATATATATATATATATATACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02895.hp1 HG02897.hp2 others(2): Show HG02132.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0006 a0002c0002t0002 a0002c0002t0045 others(1): Show a0001c0001t0006 a0002c0002t0002 a0002c0002t0045 a0002c0004t0003	a0001c0001t0006g0303 a0001c0001t0006g0312 a0002c0002t0002g0073 others(2): Show a0001c0001t0006g0303 a0001c0001t0006g0312 a0002c0002t0002g0073 a0002c0002t0045g0311 a0002c0004t0003g0196	5	362	0.0138	26	c.71- others(41): Show c.71-2556_71-2555insTATATATATATATATATATATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02004.hp2 HG02559.hp2 others(3): Show HG01891.hp1 HG02004.hp2 HG02559.hp2 HG02647.hp2 HG02809.hp1 NA19000.hp2	a0004 a0005 a0010 a0004 a0005 a0010	a0004c0006 a0005c0013 a0005c0014 others(1): Show a0004c0006 a0005c0013 a0005c0014 a0010c0010	a0004c0006t0003 a0005c0013t0001 a0005c0014t0001 others(1): Show a0004c0006t0003 a0005c0013t0001 a0005c0014t0001 a0010c0010t0006	a0004c0006t0003g0050 a0004c0006t0003g0054 a0005c0013t0001g0049 others(3): Show a0004c0006t0003g0050 a0004c0006t0003g0054 a0005c0013t0001g0049 a0005c0014t0001g0139 a0005c0014t0001g0223 a0010c0010t0006g0140	6	348	0.0172	26	c.100 others(45): Show c.1006+3856_1006+3857insATATATATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(19): Show CATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02132.hp2 HG03540.hp1 others(2): Show HG01070.hp1 HG02132.hp2 HG03540.hp1 NA19000.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0029 a0001c0001 a0001c0029	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0029t0002	a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0012g0191 others(2): Show a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0012g0191 a0001c0001t0013g0040 a0001c0029t0002g0031	5	198	0.0253	26	c.382 others(43): Show c.3829+141_3829+142insATATATATATATATATATATATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02630.hp2 HG02809.hp1 others(1): Show HG01346.hp1 HG02630.hp2 HG02809.hp1 NA18951.hp1	a0001 a0004 a0022 a0001 a0004 a0022	a0001c0010 a0001c0041 a0004c0018 others(1): Show a0001c0010 a0001c0041 a0004c0018 a0022c0030	a0001c0010t0003 a0001c0041t0003 a0004c0018t0005 others(1): Show a0001c0010t0003 a0001c0041t0003 a0004c0018t0005 a0022c0030t0001	a0001c0010t0003g0143 a0001c0041t0003g0164 a0004c0018t0005g0095 others(1): Show a0001c0010t0003g0143 a0001c0041t0003g0164 a0004c0018t0005g0095 a0022c0030t0001g0047	4	198	0.0202	26	c.382 others(43): Show c.3829+141_3829+142insATATATATATATATATATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18959.hp1 NA18998.hp2 others(1): Show HG04204.hp2 NA18959.hp1 NA18998.hp2 NA20752.hp2	a0008 a0009 a0033 others(1): Show a0008 a0009 a0033 a0038	a0008c0013 a0009c0012 a0033c0099 others(1): Show a0008c0013 a0009c0012 a0033c0099 a0038c0108	a0008c0013t0002 a0009c0012t0002 a0033c0099t0002 others(1): Show a0008c0013t0002 a0009c0012t0002 a0033c0099t0002 a0038c0108t0001	a0008c0013t0002g0088 a0009c0012t0002g0052 a0033c0099t0002g0062 others(1): Show a0008c0013t0002g0088 a0009c0012t0002g0052 a0033c0099t0002g0062 a0038c0108t0001g0113	4	178	0.0225	26	c.764 others(43): Show c.764-1854_764-1853insTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862689	C C	CCACCCCC others(19): Show CCACCCCCACCCCCACCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0246 a0001c0001t0039g0246	1	318	0.0031	26	c.422 others(41): Show c.422-890_422-889insTGGGGGTGGGGGTGGGGGTGGGGGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862696	G G	GCCCCCAA others(19): Show GCCCCCAACCCCCACCCCCACCCCCAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0295 a0001c0001t0023g0296 a0001c0001t0023g0295 a0001c0001t0023g0296	2	318	0.0063	26	c.422 others(41): Show c.422-897_422-896insGTGGGGGTGGGGGTGGGGGTTGGGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862701	G G	GGCAGGGC others(19): Show GGCAGGGCAGGGCCGGGCCGGGCCGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0037 a0011c0010t0037	a0011c0010t0037g0181 a0011c0010t0037g0181	1	318	0.0031	26	c.422 others(41): Show c.422-902_422-901insGCCGGCCCGGCCCGGCCCTGCCCTGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19007.hp1 HG03927.hp2 NA19007.hp1	a0004 a0005 a0004 a0005	a0004c0008 a0005c0014 a0004c0008 a0005c0014	a0004c0008t0004 a0005c0014t0003 a0004c0008t0004 a0005c0014t0003	a0004c0008t0004g0264 a0005c0014t0003g0243 a0004c0008t0004g0264 a0005c0014t0003g0243	2	318	0.0063	26	c.421 others(42): Show c.421+985_421+1010dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69298314	G G	GGAAGGAA others(19): Show GGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp2 HG02083.hp2 others(18): Show HG00558.hp1 HG02027.hp2 HG02083.hp2 HG02735.hp2 HG03017.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp1 NA18945.hp1 NA18969.hp1 NA18975.hp1 NA18989.hp1 NA19001.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19066.hp2 NA19081.hp2 NA19089.hp2	a0002 a0016 a0002 a0016	a0002c0001 a0016c0014 a0002c0001 a0016c0014	a0002c0001t0002 a0002c0001t0009 a0002c0001t0011 others(1): Show a0002c0001t0002 a0002c0001t0009 a0002c0001t0011 a0016c0014t0002	a0002c0001t0002g0242 a0002c0001t0002g0247 a0002c0001t0002g0253 others(18): Show a0002c0001t0002g0242 a0002c0001t0002g0247 a0002c0001t0002g0253 a0002c0001t0002g0255 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0270 a0002c0001t0002g0271 a0002c0001t0002g0275 a0002c0001t0002g0281 a0002c0001t0002g0284 a0002c0001t0002g0285 a0002c0001t0002g0302 a0002c0001t0002g0306 a0002c0001t0002g0308 a0002c0001t0009g0309 a0002c0001t0011g0248 a0002c0001t0011g0297 a0002c0001t0011g0298 a0016c0014t0002g0257	21	350	0.0600	26	c.126 others(43): Show c.1268-956_1268-955insTCCTTCCTTCCTTCCTTCCTTCCTTC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	350	0.0029	26	c.931 others(41): Show c.931-880_931-879insATATATATATATTTTTTTTTTTTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303793	T T	TATACACA others(19): Show TATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01516.hp2 others(1): Show HG00280.hp2 HG01070.hp1 HG01516.hp2 NA18612.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0015 a0003c0003t0003g0032 a0003c0003t0003g0035 others(1): Show a0003c0003t0003g0015 a0003c0003t0003g0032 a0003c0003t0003g0035 a0003c0003t0003g0040	4	350	0.0114	26	c.930 others(41): Show c.930+875_930+876insGTGTATATATATATATATATGTGTAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATATATA others(19): Show TATATATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03704.hp1 NA18952.hp2 others(5): Show HG00408.hp1 HG03704.hp1 NA18952.hp2 NA18980.hp2 NA18994.hp1 NA19064.hp1 NA19066.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0073 a0001c0002t0001g0127 others(5): Show a0001c0002t0001g0062 a0001c0002t0001g0073 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144	8	350	0.0229	26	c.930 others(41): Show c.930+861_930+862insGTGTATATATATATATGTGTATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA7_chr19_1035107_1070572	1049515	A A	AACCCCCC others(19): Show AACCCCCCACCACTCCCTCCCCGTGAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	30	0.0333	26	c.255 others(41): Show c.2552+78_2552+79insACCCCCCACCACTCCCTCCCCGTGAG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46			chr19	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATA others(19): Show TATATATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03239.hp1 HG03490.hp2 others(8): Show HG02135.hp1 HG03239.hp1 HG03490.hp2 HG03831.hp2 NA18747.hp1 NA18941.hp1 NA18982.hp2 NA19000.hp1 NA19001.hp1 NA19056.hp2 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0003c0007	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0003c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0213 a0001c0001t0001g0225 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0239 a0001c0003t0001g0063 a0001c0003t0001g0070 a0001c0003t0001g0074 a0001c0005t0001g0143 a0001c0005t0001g0144 a0003c0007t0001g0189 a0003c0007t0001g0257	11	274	0.0402	26	c.314 others(43): Show c.3145-406_3145-405insGGATATATATATATATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935262	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp1 HG02976.hp1 others(2): Show HG02559.hp1 HG02818.hp1 HG02976.hp1 HG03540.hp1 NA20129.hp2	a0001 a0024 a0001 a0024	a0001c0005 a0001c0011 a0024c0021 a0001c0005 a0001c0011 a0024c0021	a0001c0005t0001 a0001c0011t0001 a0024c0021t0001 a0001c0005t0001 a0001c0011t0001 a0024c0021t0001	a0001c0005t0001g0142 a0001c0005t0001g0146 a0001c0005t0001g0148 others(2): Show a0001c0005t0001g0142 a0001c0005t0001g0146 a0001c0005t0001g0148 a0001c0011t0001g0147 a0024c0021t0001g0139	5	274	0.0183	26	c.466 others(43): Show c.466+1663_466+1688dupCACACACACACACACACACACACACA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935540	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0048	1	274	0.0037	26	c.466 others(43): Show c.466+1385_466+1410dupTATATATATATATATATATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCB11_chr2_168915781_169036324	168975259	A A	ATAGATAA others(19): Show ATAGATAAATATATAAATATATATTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0004 a0002c0025t0004	a0002c0025t0004g0231 a0002c0025t0004g0231	1	306	0.0033	26	c.130 others(45): Show c.1308+1317_1308+1318insAAAATATATATTTATATATTTATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975408	T T	TATAAATA others(19): Show TATAAATATTTTTATATTTATAGATAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0300 a0002c0028t0001g0300	1	306	0.0033	26	c.130 others(45): Show c.1308+1143_1308+1168dupTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB1_chr7_87498017_87605884	87502516	T T	TTATATAT others(19): Show TTATATATATAAAATTATATATAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01070.hp1 others(16): Show HG00280.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01515.hp2 HG02148.hp1 HG02698.hp1 HG02698.hp2 HG03098.hp1 HG03239.hp2 HG03471.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0025 others(1): Show a0001c0001 a0001c0005 a0001c0025 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0005t0003 a0001c0005t0007 a0001c0025t0001 a0002c0002t0001	a0001c0001t0001g0198 a0001c0001t0001g0239 a0001c0001t0001g0250 others(12): Show a0001c0001t0001g0198 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0309 a0001c0001t0003g0001 a0001c0005t0001g0131 a0001c0005t0001g0276 a0001c0005t0001g0315 a0001c0005t0003g0002 a0001c0005t0007g0003 a0001c0005t0007g0076 a0001c0005t0007g0079 a0001c0025t0001g0122 a0002c0002t0001g0004 a0002c0002t0001g0173	19	352	0.0540	26	c.17 others(37): Show c.1726_*1727insTAATTATATATAATTTTATATATATA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding		500		chr7	TogoVar
ABCB1_chr7_87498017_87605884	87568266	T T	TAATAATA others(19): Show TAATAATAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0258 a0004c0007t0001g0258	1	352	0.0028	26	c.339 others(43): Show c.339-1291_339-1290insTTATTATTATTATTATTATTATTATT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	5/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87589805	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp2 HG02280.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0100 a0001c0001t0004g0089 a0001c0001t0004g0100	2	352	0.0057	26	c.118 others(43): Show c.118-4151_118-4126dupTCTCTCTCTCTCTCTCTCTCTCTCTC	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20709110	T T	TCTGTAAC others(19): Show TCTGTAACTATGAGCAACTGTTCTCAC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0048 a0002c0003t0003g0048	1	360	0.0028	26	c.242 others(45): Show c.2421+4305_2421+4330dupTGTAACTATGAGCAACTGTTCTCACC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711776	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01943.hp2 HG01981.hp2 others(3): Show HG01261.hp2 HG01943.hp2 HG01981.hp2 NA18944.hp1 NA18977.hp2 NA18983.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0006 a0015	a0002c0003 a0004c0008 a0005c0006 others(2): Show a0002c0003 a0004c0008 a0005c0006 a0006c0007 a0015c0040	a0002c0003t0003 a0004c0008t0002 a0005c0006t0001 others(2): Show a0002c0003t0003 a0004c0008t0002 a0005c0006t0001 a0006c0007t0001 a0015c0040t0002	a0002c0003t0003g0027 a0002c0003t0003g0041 a0004c0008t0002g0286 others(3): Show a0002c0003t0003g0027 a0002c0003t0003g0041 a0004c0008t0002g0286 a0005c0006t0001g0336 a0006c0007t0001g0167 a0015c0040t0002g0168	6	360	0.0167	26	c.242 others(45): Show c.2421+6974_2421+6975insCTCTCTTTCTTTCTCTCTCTCTCTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75122861	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	232	0.0043	26	c.169 others(43): Show c.169-8056_169-8031dupACACACACACACACACACACACACAC	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar
ABCC1_chr16_15944616_16148053	16006871	C C	CGGTGGCG others(19): Show CGGTGGCGGGGTGGCGGTGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0172 a0001c0004t0002g0172	1	249	0.0040	26	c.49- others(39): Show c.49-937_49-936insGGTGGCGGTGGCGGTGGTGGTGGCGG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0008 a0001c0008t0009 a0001c0001t0008 a0001c0008t0009	a0001c0001t0008g0186 a0001c0008t0009g0185 a0001c0001t0008g0186 a0001c0008t0009g0185	2	249	0.0080	26	c.359 others(43): Show c.3591-440_3591-439insTGTGTGTGTGTATGTGTGTGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124337	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0030 a0001c0007t0001g0026 a0001c0001t0001g0030 a0001c0007t0001g0026	2	249	0.0080	26	c.359 others(43): Show c.3591-440_3591-439insTGTGTGTGTGTGTATGTGTGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01261.hp1 HG02148.hp1 others(4): Show HG00639.hp2 HG01261.hp1 HG02148.hp1 HG02148.hp2 HG02300.hp2 NA18953.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0028 others(2): Show a0001c0004 a0001c0006 a0001c0028 a0001c0035 a0002c0010	a0001c0004t0002 a0001c0006t0002 a0001c0028t0002 others(2): Show a0001c0004t0002 a0001c0006t0002 a0001c0028t0002 a0001c0035t0002 a0002c0010t0002	a0001c0004t0002g0158 a0001c0004t0002g0172 a0001c0006t0002g0053 others(4): Show a0001c0004t0002g0158 a0001c0004t0002g0172 a0001c0006t0002g0053 a0001c0028t0002g0066 a0001c0035t0002g0201 a0002c0010t0002g0127 a0002c0010t0002g0128	7	249	0.0281	26	c.22 others(37): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778433	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGACAGACAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0128 a0001c0014t0001g0128	1	336	0.0030	26	c.-44 others(37): Show c.-4412_-4411insAGAGAGAGAGAGAGAGACAGACAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4206		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778433	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGACAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	336	0.0030	26	c.-44 others(37): Show c.-4412_-4411insATAGAGAGAGAGAGAGACAGAGAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4206		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(86): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01175.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG02004.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02293.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02922.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0010 others(4): Show a0001 a0002 a0010 a0014 a0015 a0016 a0018	a0001c0001 a0001c0030 a0002c0003 others(6): Show a0001c0001 a0001c0030 a0002c0003 a0002c0021 a0010c0013 a0014c0039 a0015c0020 a0016c0019 a0018c0022	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0030t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0009 a0002c0021t0003 a0010c0013t0001 a0014c0039t0001 a0015c0020t0001 a0016c0019t0001 a0018c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0220 others(83): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0005g0301 a0001c0001t0005g0316 a0001c0001t0008g0292 a0001c0030t0001g0299 a0002c0003t0001g0003 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0223 a0002c0003t0001g0232 a0002c0003t0001g0235 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0243 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0253 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0261 a0002c0003t0001g0291 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0309 a0002c0003t0001g0315 a0002c0003t0001g0326 a0002c0003t0001g0330 a0002c0003t0004g0236 a0002c0003t0004g0245 a0002c0003t0004g0255 a0002c0003t0009g0244 a0002c0021t0003g0252 a0010c0013t0001g0327 a0010c0013t0001g0328 a0014c0039t0001g0329 a0015c0020t0001g0314 a0016c0019t0001g0230 a0018c0022t0001g0270	89	336	0.2649	26	c.-43 others(37): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAAAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778451	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18963.hp2 NA18970.hp2 others(1): Show NA18942.hp1 NA18963.hp2 NA18970.hp2 NA18981.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0037 a0001c0001 a0017c0037	a0001c0001t0001 a0017c0037t0001 a0001c0001t0001 a0017c0037t0001	a0001c0001t0001g0141 a0001c0001t0001g0179 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0179 a0001c0001t0001g0194 a0017c0037t0001g0190	4	336	0.0119	26	c.-43 others(37): Show c.-4394_-4393insAGAGAGAGAGAGAGAGAGAGAGAGAA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4188		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATATACAC others(19): Show ATATACACATATACACACACATATGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18953.hp1 NA18954.hp1 others(4): Show HG06807.hp1 NA18953.hp1 NA18954.hp1 NA18979.hp2 NA18982.hp1 NA19084.hp2 NA20905.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0003 a0014c0039 a0001c0001 a0002c0003 a0014c0039	a0001c0001t0001 a0002c0003t0001 a0014c0039t0001 a0001c0001t0001 a0002c0003t0001 a0014c0039t0001	a0001c0001t0001g0211 a0002c0003t0001g0231 a0002c0003t0001g0232 others(4): Show a0001c0001t0001g0211 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0239 a0002c0003t0001g0248 a0002c0003t0001g0257 a0014c0039t0001g0329	7	336	0.0208	26	c.209 others(45): Show c.2094+1385_2094+1386insCACATATACACACACATATGTGTATA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)