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.

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
AKAP17A_chrX_1586604_1607520	1588076	C C	CCCTTCCC others(22): Show CCCTTCCCCTCCCTTCCCCTCCCTTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0017 a0017	a0017c0008 a0017c0008	a0017c0008t0001 a0017c0008t0001	a0017c0008t0001g0050 a0017c0008t0001g0050	1	151	0.0066	29	c.-37 others(40): Show c.-3713_-3712insCCTTCCCCTCCCTTCCCCTCCCTTCCCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3527		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1588086	C C	CCCTTCCC others(22): Show CCCTTCCCCTCCCTTCCCCTCCCTTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0056 a0001c0005t0001g0056	1	151	0.0066	29	c.-37 others(40): Show c.-3703_-3702insCCTTCCCCTCCCTTCCCCTCCCTTCCCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3517		chrX	TogoVar
AKAP6_chr14_32324298_32842684	32780155	A A	AAACATAT others(22): Show AAACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp1 HG02897.hp1 others(5): Show HG01243.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp2 HG03831.hp2 HG04228.hp1 NA18991.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0004c0007 others(2): Show a0001c0001 a0003c0003 a0004c0007 a0004c0013 a0006c0008	a0001c0001t0001 a0001c0001t0048 a0003c0003t0002 others(4): Show a0001c0001t0001 a0001c0001t0048 a0003c0003t0002 a0003c0003t0005 a0004c0007t0010 a0004c0013t0014 a0006c0008t0012	a0001c0001t0001g0134 a0001c0001t0048g0128 a0003c0003t0002g0078 others(5): Show a0001c0001t0001g0134 a0001c0001t0048g0128 a0003c0003t0002g0078 a0003c0003t0005g0109 a0004c0007t0010g0132 a0004c0007t0010g0133 a0004c0013t0014g0055 a0006c0008t0012g0041	8	154	0.0520	29	c.358 others(48): Show c.3588+6263_3588+6264insACATATATATATATATATATATATAT ATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0051 a0004c0040t0051	a0004c0040t0051g0120 a0004c0040t0051g0120	1	154	0.0065	29	c.358 others(50): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	360	0.0028	29	c.51 others(40): Show c.5192_*5193insAGATATATATATATATATATATATATATA	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0068 a0001c0002t0004g0068	1	446	0.0022	29	c.65 others(40): Show c.6539_*6540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0078 a0001c0003t0002g0078	1	378	0.0027	29	c.73+ others(42): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105036267	C C	CATATATT others(22): Show CATATATTTATATATGTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG02071.hp2 others(16): Show HG00423.hp1 HG00544.hp1 HG02071.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp1 NA18940.hp2 NA18944.hp2 NA18969.hp2 NA18984.hp2 NA18994.hp1 NA18998.hp1 NA19005.hp2 NA19006.hp2 NA19057.hp1 NA19084.hp1 NA19087.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0032 a0001c0001t0004 a0001c0001t0032	a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0030 others(16): Show a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0233 a0001c0001t0004g0242 a0001c0001t0004g0251 a0001c0001t0004g0254 a0001c0001t0004g0261 a0001c0001t0004g0319 a0001c0001t0004g0322 a0001c0001t0004g0379 a0001c0001t0032g0029	19	386	0.0492	29	c.214 others(48): Show c.2145+1835_2145+1836insATATATTATATATACATATATAAATA TAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	386	0.0026	29	c.194 others(44): Show c.194-839_194-838insAAATATATATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	386	0.0026	29	c.194 others(44): Show c.194-839_194-838insAAAAAAATATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18983.hp2 HG02293.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0187 a0001c0001t0002g0188	2	314	0.0064	29	c.895 others(46): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar
ALKBH4_chr7_102451238_102469863	102463322	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	404	0.0025	29	c.123 others(46): Show c.123+1391_123+1392insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding	1/2			chr7	TogoVar
ALK_chr2_29187774_29926586	29203485	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0015 a0002c0036t0015	a0002c0036t0015g0080 a0002c0036t0015g0080	1	80	0.0125	29	c.393 others(48): Show c.3938+3685_3938+3686insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29559707	A A	AATGAGGG others(22): Show AATGAGGGTGGAGCTGCTGTGCCTGTGTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02145.hp1 NA19240.hp2 HG00140.hp2 HG02145.hp1 NA19240.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0002c0014 a0005c0046 a0002c0001 a0002c0014 a0005c0046	a0002c0001t0001 a0002c0014t0001 a0005c0046t0004 a0002c0001t0001 a0002c0014t0001 a0005c0046t0004	a0002c0001t0001g0061 a0002c0014t0001g0009 a0005c0046t0004g0053 a0002c0001t0001g0061 a0002c0014t0001g0009 a0005c0046t0004g0053	3	80	0.0375	29	c.953 others(48): Show c.953-27620_953-27592dupGAACACAGGCACAGCAGCTCCACCCT CAT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28			chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107994	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	422	0.0024	29	c.168 others(46): Show c.1684+473_1684+474insTTTCTTTCTCTTTCTTTCTTTCTTTCTT T	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK1_chr4_112292369_112447621	112427387	T T	TATTTTTA others(22): Show TATTTTTAAAAATAGTATTTTTAAAAATTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp1 NA18954.hp1 others(6): Show HG02559.hp2 HG02630.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18972.hp2 NA19074.hp2 NA19079.hp1	a0001 a0005 a0014 a0001 a0005 a0014	a0001c0001 a0005c0006 a0014c0027 a0001c0001 a0005c0006 a0014c0027	a0001c0001t0001 a0001c0001t0007 a0005c0006t0006 others(1): Show a0001c0001t0001 a0001c0001t0007 a0005c0006t0006 a0014c0027t0003	a0001c0001t0001g0046 a0001c0001t0007g0010 a0005c0006t0006g0064 others(6): Show a0001c0001t0001g0046 a0001c0001t0007g0010 a0005c0006t0006g0064 a0005c0006t0006g0098 a0005c0006t0006g0162 a0005c0006t0006g0201 a0005c0006t0006g0226 a0005c0006t0006g0237 a0014c0027t0003g0144	9	306	0.0294	29	c.700 others(44): Show c.700-165_700-137dupTTTTAAAAATTGATTTTTAAAAATAGTAT	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALX3_chr1_110054870_110075672	110062603	C C	CTGTGTGT others(22): Show CTGTGTGTGTGTGTCACAACAGAAGAAAGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20905.hp1 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0123 a0001c0001t0004g0067 a0001c0001t0004g0123	2	422	0.0047	29	c.595 others(46): Show c.595-1041_595-1040insCCTTTCTTCTGTTGTGACACACACACAC A	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	160	0.0063	29	c.-12 others(48): Show c.-121+8132_-121+8133insATATATATATATATATATATTTTTTT TTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19010.hp1 HG01243.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0104 a0001c0001t0007g0049 a0001c0001t0001g0104 a0001c0001t0007g0049	2	160	0.0125	29	c.-12 others(48): Show c.-121+8132_-121+8133insATATATATATATATATATATATATTT TTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0149 a0003c0010t0002g0149	1	160	0.0063	29	c.-12 others(48): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT TTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02559.hp1 HG02809.hp1 others(5): Show HG02523.hp2 HG02559.hp1 HG02809.hp1 NA18952.hp1 NA19066.hp2 NA19077.hp2 NA19087.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0002c0003t0014	a0001c0001t0005g0035 a0001c0001t0005g0041 a0001c0001t0006g0034 others(5): Show a0001c0001t0005g0035 a0001c0001t0005g0041 a0001c0001t0006g0034 a0001c0001t0014g0136 a0001c0001t0020g0221 a0001c0001t0020g0222 a0002c0003t0014g0138 a0002c0003t0014g0139	8	356	0.0225	29	c.667 others(46): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109503489	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	29	c.39 others(40): Show c.3941_*3942insTATATATATATATATATATATATATATAT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		688		chr1	TogoVar
AMPH_chr7_38378704_38636373	38441745	T T	TATATCAT others(22): Show TATATCATATATCTATCATATATATGATAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0004 a0007c0018t0004	a0007c0018t0004g0140 a0007c0018t0004g0140	1	288	0.0035	29	c.101 others(48): Show c.1018-5358_1018-5357insCTATCATATATATGATAGATATATGA TAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38441759	A A	ATCATATA others(22): Show ATCATATATATGATATATATCATATATCTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00642.hp2 others(17): Show HG00558.hp1 HG00597.hp2 HG00642.hp2 HG01109.hp1 HG02071.hp1 HG02083.hp2 HG03669.hp2 NA18946.hp1 NA18951.hp1 NA18957.hp1 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp2 NA19007.hp1 NA19056.hp2 NA19057.hp2 NA19088.hp2	a0002 a0002	a0002c0004 a0002c0008 a0002c0004 a0002c0008	a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 others(2): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0002c0008t0002 a0002c0008t0003	a0002c0004t0001g0167 a0002c0004t0003g0188 a0002c0004t0005g0070 others(17): Show a0002c0004t0001g0167 a0002c0004t0003g0188 a0002c0004t0005g0070 a0002c0004t0005g0100 a0002c0004t0005g0143 a0002c0004t0005g0150 a0002c0004t0005g0168 a0002c0004t0005g0184 a0002c0004t0005g0193 a0002c0004t0005g0214 a0002c0004t0005g0243 a0002c0004t0005g0249 a0002c0004t0005g0251 a0002c0008t0002g0111 a0002c0008t0002g0116 a0002c0008t0002g0134 a0002c0008t0002g0179 a0002c0008t0002g0181 a0002c0008t0002g0208 a0002c0008t0003g0187	20	288	0.0694	29	c.101 others(48): Show c.1018-5400_1018-5372dupCAGATATATGATATATATCATATATA TGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38441788	G G	GTCATATA others(22): Show GTCATATATATGATATATATCATATATCTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp1 HG01099.hp1 others(9): Show HG00438.hp2 HG01070.hp1 HG01099.hp1 HG01361.hp2 HG01943.hp2 HG02040.hp1 HG04115.hp2 HG04204.hp2 NA18982.hp1 NA19011.hp2 NA19076.hp2 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0006c0014 a0001c0001 a0002c0004 a0006c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0004t0005 a0006c0014t0005	a0001c0001t0001g0058 a0001c0001t0001g0252 a0001c0001t0003g0016 others(9): Show a0001c0001t0001g0058 a0001c0001t0001g0252 a0001c0001t0003g0016 a0001c0001t0003g0142 a0001c0001t0005g0034 a0002c0004t0005g0029 a0002c0004t0005g0051 a0002c0004t0005g0175 a0002c0004t0005g0264 a0002c0004t0005g0265 a0002c0004t0005g0269 a0006c0014t0005g0123	12	288	0.0417	29	c.101 others(48): Show c.1018-5401_1018-5400insTAGATATATGATATATATCATATATA TGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38445064	T T	TATATATA others(22): Show TATATATACACATATATACATGGTATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG02056.hp1 others(51): Show HG00558.hp2 HG00621.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02976.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18995.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19066.hp2 NA19076.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20905.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0008	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0004c0011 a0005c0013 a0008c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0007t0001 a0001c0007t0005 a0001c0009t0006 a0004c0011t0001 a0005c0013t0001 a0008c0015t0001	a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0067 others(51): Show a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0003g0075 a0001c0001t0003g0185 a0001c0001t0003g0250 a0001c0001t0003g0278 a0001c0001t0003g0285 a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0277 a0001c0002t0002g0044 a0001c0007t0001g0090 a0001c0007t0005g0222 a0001c0007t0005g0263 a0001c0009t0006g0077 a0004c0011t0001g0072 a0005c0013t0001g0246 a0008c0015t0001g0226	54	288	0.1875	29	c.101 others(48): Show c.1018-8677_1018-8676insGTATATACCATGTATATATGTGTATA TAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMTN_chr4_70513569_70537743	70517834	T T	TCCTCTGA others(22): Show TCCTCTGATACATTACTTAAATGTACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02630.hp2 others(3): Show HG01891.hp2 HG02258.hp2 HG02630.hp2 HG02723.hp1 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0088 a0001c0001t0003g0147 a0001c0001t0003g0148 others(3): Show a0001c0001t0001g0088 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0004g0086 a0001c0001t0004g0087	6	458	0.0131	29	c.-83 others(38): Show c.-836_-835insCCTCTGATACATTACTTAAATGTACATAC	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		734		chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145055746	G G	GCCAGACA others(22): Show GCCAGACAATGACAACCCAAGCTCACCCCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	336	0.0030	29	c.327 others(46): Show c.327+8825_327+8826insTGGGGTGAGCTTGGGTTGTCATTGTCTG G	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0160 a0001c0004t0003g0160	1	370	0.0027	29	c.247 others(46): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC7_chr12_110367900_110408708	110387285	G G	GAGAGAGA others(22): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	298	0.0034	29	c.674 others(44): Show c.674+453_674+454insGTCCTCTCTCTCTCTCTCTCTCTCTCTCT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(22): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	292	0.0034	29	c.298 others(48): Show c.298-23244_298-23243insCTTTTTTCTTTCTTTCTTTCTTTCTT TCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370341	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	292	0.0034	29	c.298 others(48): Show c.298-23245_298-23244insCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6505179	T T	TATATATA others(22): Show TATATATATATATTCTTATGTATATATAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp1 others(26): Show HG00423.hp2 HG00558.hp1 HG00609.hp1 HG01433.hp1 HG01952.hp1 HG02523.hp2 HG03942.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18960.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18982.hp2 NA18986.hp1 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19067.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0019	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0007 a0001c0002t0014 a0001c0002t0018 a0001c0003t0007 a0001c0003t0008 a0001c0003t0018 a0001c0019t0014	a0001c0001t0001g0106 a0001c0001t0001g0179 a0001c0001t0001g0196 others(26): Show a0001c0001t0001g0106 a0001c0001t0001g0179 a0001c0001t0001g0196 a0001c0001t0001g0223 a0001c0001t0001g0238 a0001c0001t0006g0252 a0001c0001t0006g0259 a0001c0001t0006g0267 a0001c0001t0006g0270 a0001c0001t0007g0055 a0001c0001t0007g0072 a0001c0001t0007g0143 a0001c0001t0007g0204 a0001c0001t0009g0028 a0001c0002t0001g0146 a0001c0002t0001g0222 a0001c0002t0007g0056 a0001c0002t0007g0058 a0001c0002t0007g0194 a0001c0002t0014g0010 a0001c0002t0014g0027 a0001c0002t0018g0254 a0001c0003t0007g0105 a0001c0003t0007g0182 a0001c0003t0007g0234 a0001c0003t0007g0241 a0001c0003t0008g0021 a0001c0003t0018g0263 a0001c0019t0014g0017	29	336	0.0863	29	c.132 others(48): Show c.1328-1947_1328-1919dupTCTATATATACATAAGAATATATATA TAT	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6568234	C C	CGTGGACC others(22): Show CGTGGACCCATCGCTAGCTGAATGTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02486.hp2 others(5): Show HG01884.hp2 HG02109.hp2 HG02486.hp2 HG03098.hp2 HG03453.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0010 a0001c0017	a0001c0001t0006 a0001c0002t0005 a0001c0004t0012 others(5): Show a0001c0001t0006 a0001c0002t0005 a0001c0004t0012 a0001c0004t0027 a0001c0007t0005 a0001c0007t0010 a0001c0010t0006 a0001c0017t0005	a0001c0001t0006g0276 a0001c0002t0005g0257 a0001c0004t0012g0312 others(5): Show a0001c0001t0006g0276 a0001c0002t0005g0257 a0001c0004t0012g0312 a0001c0004t0027g0313 a0001c0007t0005g0314 a0001c0007t0010g0315 a0001c0010t0006g0316 a0001c0017t0005g0308	8	336	0.0238	29	c.-53 others(40): Show c.-5329_-5301dupATTCCACATTCAGCTAGCGATGGGTCCAC	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding		4990		chr8	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0040 a0002c0007t0001g0040	1	278	0.0036	29	c.229 others(46): Show c.2295+590_2295+591insAAAAAAAAAAAAATATATATATATATAT A	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0027 a0002c0007t0027	a0002c0007t0027g0035 a0002c0007t0027g0035	1	278	0.0036	29	c.229 others(46): Show c.2295+590_2295+591insAAAAAAAAAAAAAAATATATATATATAT A	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK2_chr4_113044653_113388736	113127053	A A	ATCAAGAA others(22): Show ATCAAGAAATTCAGAGAATGATGCTTCTTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0164 a0004c0005t0001g0164	1	178	0.0056	29	c.85- others(46): Show c.85-47335_85-47334insGTCAAGAAATTCAGAGAATGATGCTTCT T	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02056.hp2 NA18995.hp1 HG00544.hp2 HG02056.hp2 NA18995.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0002c0002 a0019c0011 a0001c0001 a0002c0002 a0019c0011	a0001c0001t0001 a0002c0002t0001 a0019c0011t0001 a0001c0001t0001 a0002c0002t0001 a0019c0011t0001	a0001c0001t0001g0117 a0002c0002t0001g0119 a0019c0011t0001g0105 a0001c0001t0001g0117 a0002c0002t0001g0119 a0019c0011t0001g0105	3	178	0.0169	29	c.85- others(46): Show c.85-24516_85-24515insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKAR_chr2_189669670_189751647	189729715	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04204.hp1 HG04204.hp2 HG03654.hp1 HG04204.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0155 a0001c0001t0001g0182 a0001c0001t0001g0095 a0001c0001t0001g0155 a0001c0001t0001g0182	3	296	0.0101	29	c.319 others(46): Show c.3194-779_3194-778insTGTGTGTGTGTGTGTGTGTGTGTGTGTG G	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(22): Show CTACTACTACTACTACTACTACTATAATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	296	0.0034	29	c.405 others(46): Show c.4057+241_4057+242insCTACTACTACTACTACTACTATAATAAT A	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKDD1A_chr15_64906902_64963691	64951706	A A	ATTCTTTT others(22): Show ATTCTTTTCTTTTTCTTCGTTCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(205): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0001c0015 a0001c0017 a0002c0003 a0003c0008 a0003c0011 a0004c0007 a0006c0012 a0007c0020 a0008c0019 a0010c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0004t0003 a0001c0013t0001 a0001c0015t0002 a0001c0017t0001 a0002c0003t0001 a0003c0008t0001 a0003c0011t0001 a0004c0007t0003 a0006c0012t0001 a0007c0020t0001 a0008c0019t0001 a0010c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(200): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0328 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0170 a0001c0001t0005g0174 a0001c0001t0008g0175 a0001c0001t0008g0179 a0001c0001t0009g0085 a0001c0001t0010g0197 a0001c0001t0011g0222 a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0196 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0239 a0001c0002t0001g0247 a0001c0002t0001g0276 a0001c0002t0001g0279 a0001c0002t0001g0282 a0001c0002t0002g0038 a0001c0002t0002g0130 a0001c0002t0002g0173 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0309 a0001c0002t0002g0314 a0001c0002t0002g0316 a0001c0002t0002g0327 a0001c0004t0003g0149 a0001c0004t0003g0185 a0001c0004t0003g0186 a0001c0004t0003g0250 a0001c0004t0003g0310 a0001c0013t0001g0226 a0001c0015t0002g0261 a0001c0017t0001g0283 a0002c0003t0001g0189 a0002c0003t0001g0190 a0003c0008t0001g0064 a0003c0008t0001g0103 a0003c0008t0001g0136 a0003c0011t0001g0074 a0003c0011t0001g0076 a0004c0007t0003g0034 a0006c0012t0001g0244 a0007c0020t0001g0129 a0008c0019t0001g0265 a0010c0014t0002g0266	208	338	0.6154	29	c.148 others(48): Show c.1483+1736_1483+1737insCTTTTCTTTTTCTTCGTTCTTCCTTT CTT	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64953615	C C	CTTCTTCT others(22): Show CTTCTTCTTCTTCTTCTTAGTTCTTCTTAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG03195.hp2 others(2): Show HG02451.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0003 a0001c0002t0002 a0001c0004t0003	a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 others(2): Show a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0004t0003g0030 a0001c0004t0003g0255	5	338	0.0148	29	c.148 others(48): Show c.1484-3473_1484-3472insTTAGTTCTTCTTAGTTCTTCTTCTTC TTC	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64953628	T T	TTCTTCTT others(22): Show TTCTTCTTAGTTCTTCTTCTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp2 others(12): Show HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 NA19043.hp1 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0021 a0001c0002 a0009c0021	a0001c0002t0004 a0009c0021t0004 a0001c0002t0004 a0009c0021t0004	a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0208 others(12): Show a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0208 a0001c0002t0004g0229 a0001c0002t0004g0231 a0001c0002t0004g0241 a0001c0002t0004g0251 a0001c0002t0004g0264 a0001c0002t0004g0270 a0001c0002t0004g0317 a0001c0002t0004g0318 a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0325 a0009c0021t0004g0220	15	338	0.0444	29	c.148 others(48): Show c.1484-3473_1484-3472insTTCTTAGTTCTTCTTCTTCCTTCTTT CTC	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19088.hp1 NA19090.hp1 NA18970.hp1 NA19088.hp1 NA19090.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0299 a0003c0006t0002g0300 a0003c0006t0002g0301 a0003c0006t0002g0299 a0003c0006t0002g0300 a0003c0006t0002g0301	3	314	0.0096	29	c.486 others(46): Show c.486+2287_486+2288insAAAAAAATATATATATATATATATATAT A	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0302 a0003c0006t0002g0302	1	314	0.0032	29	c.486 others(46): Show c.486+2287_486+2288insAAAAATATATATATATATATATATATAT A	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKK1_chr11_113382779_113405416	113396057	C C	CAGATCAC others(22): Show CAGATCACAGATTCATAGACTGAGCCTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0001 a0028c0029t0001	a0028c0029t0001g0057 a0028c0029t0001g0057	1	400	0.0025	29	c.683 others(41): Show c.683-10_683-9insAGATCACAGATTCATAGACTGAGCCTCCT	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	4/7			chr11	TogoVar
ANKLE2_chr12_132720503_132766832	132721289	T T	TGTCAATT others(22): Show TGTCAATTAAAGATTTTCTGGCTGGGCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	350	0.0029	29	c.59 others(40): Show c.5924_*5952dupTGTGCCCAGCCAGAAAATCTTTAATTGAC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding		4213		chr12	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG02735.hp1 others(2): Show HG00099.hp1 HG01109.hp1 HG02735.hp1 HG03516.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0187 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0187 a0001c0001t0005g0074	5	362	0.0138	29	c.691 others(44): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89305899	T T	TGCCACCC others(22): Show TGCCACCCACCTCCCACTCCGCAGACACGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0057 a0001c0001t0011g0057	1	310	0.0032	29	c.88- others(42): Show c.88-584_88-556dupGCGTGTCTGCGGAGTGGGAGGTGGGTGGC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306154	C C	CGCCACCT others(22): Show CGCCACCTACCTCCCCCTCCGCAGACACGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp2 HG01258.hp1 others(6): Show HG01074.hp2 HG01256.hp2 HG01258.hp1 HG02015.hp2 NA18956.hp2 NA18966.hp1 NA19000.hp1 NA19005.hp2 NA20300.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0011 a0015c0026 a0001c0001 a0001c0011 a0015c0026	a0001c0001t0001 a0001c0011t0001 a0015c0026t0001 a0001c0001t0001 a0001c0011t0001 a0015c0026t0001	a0001c0001t0001g0051 a0001c0001t0001g0131 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0166 a0001c0001t0001g0307 a0001c0011t0001g0212 a0001c0011t0001g0232 a0015c0026t0001g0239	9	310	0.0290	29	c.88- others(42): Show c.88-811_88-810insACGTGTCTGCGGAGGGGGAGGTAGGTGGC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar

Search by Variant

Search

Search Results (Total: 6085 hits)