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
SKI_chr1_2223319_2315213	2281942	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19084.hp2 NA19080.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0107 a0001c0001t0012g0215 a0001c0001t0008g0107 a0001c0001t0012g0215	2	330	0.0061	23	c.970 others(42): Show c.970-21035_970-21034insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281961	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01891.hp1 others(5): Show HG00280.hp1 HG01123.hp1 HG01891.hp1 HG01928.hp1 HG02698.hp1 HG02735.hp2 HG03516.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 a0001c0003t0020	a0001c0001t0001g0033 a0001c0001t0001g0135 a0001c0001t0002g0222 others(5): Show a0001c0001t0001g0033 a0001c0001t0001g0135 a0001c0001t0002g0222 a0001c0001t0004g0134 a0001c0001t0005g0221 a0001c0001t0005g0227 a0001c0001t0024g0005 a0001c0003t0020g0015	8	330	0.0242	23	c.970 others(42): Show c.970-21000_970-20999insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281985	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	330	0.0030	23	c.970 others(42): Show c.970-20992_970-20991insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282004	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01361.hp1 HG01169.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0207 a0001c0001t0005g0089 a0001c0001t0005g0207	2	330	0.0061	23	c.970 others(42): Show c.970-20957_970-20956insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282028	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0306 a0001c0001t0041g0306	1	330	0.0030	23	c.970 others(42): Show c.970-20949_970-20948insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282047	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0223 a0001c0001t0019g0223	1	330	0.0030	23	c.970 others(42): Show c.970-20931_970-20930insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2282047	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0258 a0001c0001t0012g0258	1	330	0.0030	23	c.970 others(42): Show c.970-20914_970-20913insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282177	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp2 NA19063.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0046 a0001c0001t0004g0025 a0001c0001t0003g0046 a0001c0001t0004g0025	2	330	0.0061	23	c.970 others(42): Show c.970-20784_970-20783insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282201	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0292 a0001c0001t0044g0292	1	330	0.0030	23	c.970 others(42): Show c.970-20776_970-20775insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282392	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	330	0.0030	23	c.970 others(42): Show c.970-20569_970-20568insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	394	0.0025	23	c.24 others(34): Show c.2463_*2464insATATATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	23	c.24 others(34): Show c.2463_*2464insAAATATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	394	0.0025	23	c.24 others(34): Show c.2463_*2464insAAAAATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG03225.hp1 HG01175.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0228 a0001c0001t0006g0111 a0001c0001t0001g0228 a0001c0001t0006g0111	2	394	0.0051	23	c.24 others(34): Show c.2463_*2464insAAAAAAAAATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484244	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp2 NA19000.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0162 a0001c0001t0001g0124 a0001c0001t0001g0162	2	394	0.0051	23	c.24 others(34): Show c.2462_*2463insTATATATATATATATATATATAT	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		791		chr1	TogoVar
SLA_chr8_133031728_133107602	133093141	T T	TTTCTTTT others(16): Show TTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp2 HG02970.hp1 others(4): Show HG02055.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03471.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0020 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0020 a0002c0002t0002 a0002c0002t0008	a0001c0001t0001g0106 a0001c0001t0020g0107 a0002c0002t0002g0079 others(4): Show a0001c0001t0001g0106 a0001c0001t0020g0107 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0008g0083	7	344	0.0204	23	c.-31 others(42): Show c.-319+9411_-319+9412insGAAAAGAAAAGAAAAGAAAAGAA	SLA	ENSG00000155926.14	transcript	ENST00000338087.10	protein_coding	1/8			chr8	TogoVar
SLC11A2_chr12_50980992_51031384	50993992	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0186 a0001c0002t0003g0186	1	370	0.0027	23	c.107 others(40): Show c.1077+529_1077+551dupTTTTTTTTTTTTTTTTTTTTTTT	SLC11A2	ENSG00000110911.17	transcript	ENST00000262052.9	protein_coding	11/15			chr12	TogoVar
SLC12A1_chr15_48201302_48309078	48302626	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	266	0.0038	23	c.316 others(40): Show c.3165-122_3165-100dupAAAAAAAAAAAAAAAAAAAAAAA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(16): Show ATATATATATATATATATAATTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0024 a0001c0002t0015g0024	1	354	0.0028	23	c.104 others(42): Show c.1049-4100_1049-4099insATATATATATATATATAATTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A3_chr16_56860207_56920850	56887798	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0003 a0003c0019t0003	a0003c0019t0003g0173 a0003c0019t0003g0173	1	420	0.0024	23	c.217 others(40): Show c.2179-126_2179-125insATATATATATATATATATATTTT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56887799	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0006 a0004c0013t0006	a0004c0013t0006g0261 a0004c0013t0006g0261	1	420	0.0024	23	c.217 others(40): Show c.2179-126_2179-125insATATATATATATATATATATATA	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25			chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56908161	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02015.hp2 HG02145.hp1 others(7): Show HG00609.hp2 HG02015.hp2 HG02145.hp1 HG02293.hp2 NA18957.hp2 NA18972.hp1 NA18975.hp1 NA18991.hp2 NA19080.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0002c0009 a0002c0011 others(3): Show a0001c0021 a0002c0009 a0002c0011 a0002c0014 a0002c0028 a0002c0050	a0001c0021t0002 a0002c0009t0005 a0002c0011t0005 others(4): Show a0001c0021t0002 a0002c0009t0005 a0002c0011t0005 a0002c0014t0001 a0002c0014t0005 a0002c0028t0005 a0002c0050t0005	a0001c0021t0002g0122 a0002c0009t0005g0182 a0002c0011t0005g0264 others(7): Show a0001c0021t0002g0122 a0002c0009t0005g0182 a0002c0011t0005g0264 a0002c0011t0005g0298 a0002c0014t0001g0200 a0002c0014t0001g0213 a0002c0014t0005g0211 a0002c0014t0005g0212 a0002c0028t0005g0015 a0002c0050t0005g0208	10	420	0.0238	23	c.292 others(42): Show c.2924+3718_2924+3719insTTTTTTTTTTTTTTTTTTTTTTT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A6_chr15_34224784_34342781	34285713	T T	TACACACA others(16): Show TACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0210 a0001c0002t0035g0210	1	274	0.0037	23	c.272 others(42): Show c.272-10325_272-10324insTGTGTGTGTGTGTGTGTGTGTGT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285715	T T	TACACACA others(16): Show TACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02622.hp2 others(13): Show HG01884.hp1 HG02145.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0014 a0001c0003 a0001c0005 a0001c0014	a0001c0003t0003 a0001c0003t0007 a0001c0003t0011 others(4): Show a0001c0003t0003 a0001c0003t0007 a0001c0003t0011 a0001c0003t0040 a0001c0003t0050 a0001c0005t0008 a0001c0014t0055	a0001c0003t0003g0066 a0001c0003t0007g0043 a0001c0003t0007g0048 others(13): Show a0001c0003t0003g0066 a0001c0003t0007g0043 a0001c0003t0007g0048 a0001c0003t0007g0049 a0001c0003t0007g0050 a0001c0003t0007g0052 a0001c0003t0007g0063 a0001c0003t0011g0183 a0001c0003t0011g0184 a0001c0003t0011g0185 a0001c0003t0011g0186 a0001c0003t0040g0181 a0001c0003t0050g0178 a0001c0005t0008g0053 a0001c0005t0008g0182 a0001c0014t0055g0036	16	274	0.0584	23	c.272 others(42): Show c.272-10327_272-10326insTGTGTGTGTGTGTGTGTGTGTGT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TACACACA others(16): Show TACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03579.hp1 HG02886.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0028 a0001c0003t0021g0029 a0001c0003t0021g0028 a0001c0003t0021g0029	2	274	0.0073	23	c.272 others(42): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTGTGTGT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TATACACA others(16): Show TATACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00621.hp2 others(96): Show HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02818.hp1 HG02896.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19086.hp2 NA20129.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0056 a0001c0004t0003 a0001c0004t0006 a0001c0004t0010 a0001c0004t0017 a0001c0004t0028 a0001c0004t0051 a0001c0005t0002 a0001c0007t0009 a0001c0008t0001 a0001c0013t0001 a0001c0017t0002	a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0088 others(96): Show a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0251 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0009g0106 a0001c0001t0015g0176 a0001c0001t0016g0144 a0001c0001t0016g0150 a0001c0001t0016g0159 a0001c0001t0018g0103 a0001c0001t0018g0132 a0001c0001t0018g0256 a0001c0001t0023g0083 a0001c0001t0023g0127 a0001c0001t0024g0073 a0001c0001t0024g0094 a0001c0001t0041g0163 a0001c0001t0042g0077 a0001c0001t0043g0098 a0001c0001t0044g0112 a0001c0001t0046g0114 a0001c0001t0056g0136 a0001c0004t0003g0013 a0001c0004t0003g0014 a0001c0004t0003g0074 a0001c0004t0003g0078 a0001c0004t0003g0160 a0001c0004t0003g0161 a0001c0004t0003g0187 a0001c0004t0006g0022 a0001c0004t0006g0023 a0001c0004t0006g0024 a0001c0004t0006g0025 a0001c0004t0006g0026 a0001c0004t0006g0027 a0001c0004t0006g0061 a0001c0004t0010g0261 a0001c0004t0010g0262 a0001c0004t0010g0263 a0001c0004t0010g0264 a0001c0004t0010g0266 a0001c0004t0017g0069 a0001c0004t0017g0070 a0001c0004t0028g0265 a0001c0004t0028g0267 a0001c0004t0051g0012 a0001c0005t0002g0113 a0001c0005t0002g0119 a0001c0007t0009g0067 a0001c0007t0009g0084 a0001c0007t0009g0090 a0001c0007t0009g0091 a0001c0008t0001g0086 a0001c0008t0001g0087 a0001c0013t0001g0174 a0001c0017t0002g0141	99	274	0.3613	23	c.272 others(42): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTGTGTAT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1070309	G G	GCCCCCAG others(16): Show GCCCCCAGTGAGCCCCCAGTGAGC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0037 a0002c0004t0001g0037	1	118	0.0085	23	c.224 others(42): Show c.2241+3323_2241+3324insGCTCACTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071114	G G	GCCCCCAG others(16): Show GCCCCCAGTGAGCCCCCAGTGAGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	118	0.0085	23	c.224 others(42): Show c.2241+2518_2241+2519insGCTCACTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC13A4_chr7_135676231_135733186	135711963	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	372	0.0027	23	c.229 others(40): Show c.229-3736_229-3714dupAAAAAAAAAAAAAAAAAAAAAAA	SLC13A4	ENSG00000164707.16	transcript	ENST00000682651.1	protein_coding	2/15			chr7	TogoVar
SLC15A2_chr3_121889401_121949188	121948422	C C	CTTCTTTT others(16): Show CTTCTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG03471.hp2 HG02300.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0230 a0002c0002t0001g0180 a0002c0002t0001g0230	2	338	0.0059	23	c.74 others(34): Show c.7415_*7416insTTCTTTTTTTTTTTTTTTTTTTT	SLC15A2	ENSG00000163406.11	transcript	ENST00000489711.6	protein_coding		4235		chr3	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02273.hp2 HG02451.hp2 others(3): Show HG02165.hp1 HG02273.hp2 HG02451.hp2 HG03491.hp1 HG03492.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0056 a0002c0003t0001g0010 a0002c0003t0001g0087 a0001c0001t0001g0056 a0002c0003t0001g0010 a0002c0003t0001g0087	6	432	0.0139	23	c.527 others(38): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC16A6_chr17_68262026_68296127	68282779	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02055.hp2 NA21309.hp1 HG01975.hp1 HG02055.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0003 a0002c0011t0005 a0002c0002t0003 a0002c0011t0005	a0002c0002t0003g0082 a0002c0002t0003g0090 a0002c0011t0005g0195 a0002c0002t0003g0082 a0002c0002t0003g0090 a0002c0011t0005g0195	3	408	0.0074	23	c.-7- others(38): Show c.-7-4453_-7-4452insTTTTTTTTTTTTTTTTTTTTTTT	SLC16A6	ENSG00000108932.13	transcript	ENST00000580666.6	protein_coding	1/5			chr17	TogoVar
SLC18B1_chr6_132764370_132803637	132768047	C C	CTGTGCTG others(16): Show CTGTGCTGGTAACAACTGTGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	304	0.0033	23	c.22 others(34): Show c.2222_*2223insCCAGCACAGTTGTTACCAGCACA	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding		1322		chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	304	0.0033	23	c.184 others(40): Show c.184-2009_184-2008insCCTTCTTTCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC19A1_chr21_45507565_45547440	45508490	G G	GCTGGATG others(16): Show GCTGGATGGTGGACAGGTGGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0123 a0002c0002t0046g0123	1	318	0.0031	23	c.71 others(34): Show c.7167_*7168insTCACCCACCTGTCCACCATCCAG	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding		4074		chr21	TogoVar
SLC1A3_chr5_36601606_36693334	36636045	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03041.hp1 HG03041.hp2 others(1): Show HG02165.hp2 HG03041.hp1 HG03041.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0195 a0001c0001t0002g0291 a0001c0001t0006g0061 others(1): Show a0001c0001t0001g0195 a0001c0001t0002g0291 a0001c0001t0006g0061 a0001c0001t0014g0137	4	380	0.0105	23	c.319 others(40): Show c.319+6458_319+6459insGTGTGTGTGTGTGTGTGTGTGTG	SLC1A3	ENSG00000079215.15	transcript	ENST00000265113.9	protein_coding	3/9			chr5	TogoVar
SLC1A4_chr2_64984399_65028865	65002570	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02074.hp2 HG04228.hp1 others(1): Show HG00408.hp1 HG02074.hp2 HG04228.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0001 a0001c0027t0001 a0001c0001t0001 a0001c0027t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0288 others(1): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0288 a0001c0027t0001g0195	4	394	0.0102	23	c.570 others(40): Show c.570+1083_570+1105dupTTTTTTTTTTTTTTTTTTTTTTT	SLC1A4	ENSG00000115902.11	transcript	ENST00000234256.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC1A7_chr1_53082183_53147638	53100528	G G	GCACACCC others(16): Show GCACACCCAACCTTGGTATACTCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02559.hp2 HG02717.hp2 others(4): Show HG01167.hp2 HG02559.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0026 a0001c0002 a0006c0026	a0001c0002t0002 a0006c0026t0002 a0001c0002t0002 a0006c0026t0002	a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 others(4): Show a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0341 a0001c0002t0002g0343 a0001c0002t0002g0344 a0006c0026t0002g0034	7	400	0.0175	23	c.697 others(40): Show c.697+2795_697+2817dupTGAGTATACCAAGGTTGGGTGTG	SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	5/10			chr1	TogoVar
SLC1A7_chr1_53082183_53147638	53100726	G G	GGTACACT others(16): Show GGTACACTCATACATACCACCTCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(75): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00735.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01433.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19078.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0001c0006 others(9): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0015 a0001c0019 a0001c0020 a0001c0028 a0008c0029	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(18): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0020 a0001c0003t0006 a0001c0006t0005 a0001c0006t0010 a0001c0006t0021 a0001c0007t0004 a0001c0007t0018 a0001c0007t0022 a0001c0009t0007 a0001c0011t0004 a0001c0011t0027 a0001c0012t0005 a0001c0015t0004 a0001c0019t0005 a0001c0020t0005 a0001c0028t0017 a0008c0029t0004	a0001c0002t0002g0035 a0001c0002t0002g0232 a0001c0002t0003g0168 others(67): Show a0001c0002t0002g0035 a0001c0002t0002g0232 a0001c0002t0003g0168 a0001c0002t0003g0231 a0001c0002t0005g0091 a0001c0002t0005g0173 a0001c0002t0005g0327 a0001c0002t0005g0342 a0001c0002t0005g0345 a0001c0002t0012g0059 a0001c0002t0012g0328 a0001c0002t0020g0167 a0001c0003t0006g0046 a0001c0003t0006g0056 a0001c0003t0006g0058 a0001c0003t0006g0180 a0001c0003t0006g0207 a0001c0003t0006g0313 a0001c0003t0006g0329 a0001c0006t0005g0002 a0001c0006t0005g0004 a0001c0006t0005g0055 a0001c0006t0005g0071 a0001c0006t0005g0164 a0001c0006t0005g0177 a0001c0006t0005g0182 a0001c0006t0005g0199 a0001c0006t0005g0201 a0001c0006t0005g0216 a0001c0006t0005g0217 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0006t0010g0349 a0001c0006t0010g0351 a0001c0006t0010g0353 a0001c0006t0021g0054 a0001c0007t0004g0009 a0001c0007t0004g0024 a0001c0007t0004g0037 a0001c0007t0004g0053 a0001c0007t0004g0065 a0001c0007t0004g0070 a0001c0007t0004g0090 a0001c0007t0004g0111 a0001c0007t0004g0135 a0001c0007t0004g0148 a0001c0007t0004g0175 a0001c0007t0004g0185 a0001c0007t0004g0250 a0001c0007t0004g0251 a0001c0007t0004g0285 a0001c0007t0004g0346 a0001c0007t0004g0347 a0001c0007t0018g0069 a0001c0007t0022g0356 a0001c0009t0007g0363 a0001c0011t0004g0113 a0001c0011t0004g0260 a0001c0011t0004g0282 a0001c0011t0004g0286 a0001c0011t0027g0367 a0001c0012t0005g0007 a0001c0012t0005g0074 a0001c0012t0005g0193 a0001c0015t0004g0006 a0001c0015t0004g0309 a0001c0019t0005g0246 a0001c0020t0005g0298 a0001c0028t0017g0033 a0008c0029t0004g0307	78	400	0.1950	23	c.697 others(40): Show c.697+2619_697+2620insTGAGGTGGTATGTATGAGTGTAC	SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	5/10			chr1	TogoVar
SLC20A2_chr8_42411475_42506231	42451908	G G	GGAGGAGG others(16): Show GGAGGAGGAGGAGGAAGAGATGAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 NA18612.hp2 others(1): Show HG02809.hp1 HG03041.hp1 NA18612.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0053 a0001c0001t0001g0217 a0001c0001t0004g0203 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0217 a0001c0001t0004g0203 a0001c0001t0004g0204	4	238	0.0168	23	c.614 others(40): Show c.614-7169_614-7147dupTTCATCTCTTCCTCCTCCTCCTC	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	5/10			chr8	TogoVar
SLC20A2_chr8_42411475_42506231	42464092	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02698.hp1 HG04115.hp1 others(1): Show HG00621.hp1 HG02698.hp1 HG04115.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0010 a0001c0006t0001 a0001c0001t0001 a0001c0001t0010 a0001c0006t0001	a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0010g0225 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0010g0225 a0001c0006t0001g0149	4	238	0.0168	23	c.431 others(40): Show c.431-1025_431-1003dupAAAAAAAAAAAAAAAAAAAAAAA	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	3/10			chr8	TogoVar
SLC22A14_chr3_38277294_38323575	38313686	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0060 a0004c0004t0001g0060	1	406	0.0025	23	c.116 others(38): Show c.1164-41_1164-40insTGTGTGTGTGTGCGCGCGCGCGC	SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	7/10			chr3	TogoVar
SLC22A16_chr6_110419687_110481613	110437152	A A	AAATTAAA others(16): Show AAATTAAATTAATTAACAATTGTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0001 a0018c0026t0001	a0018c0026t0001g0030 a0018c0026t0001g0030	1	416	0.0024	23	c.131 others(42): Show c.1312-1214_1312-1192dupAACAATTGTTAATTAATTTAATT	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	5/7			chr6	TogoVar
SLC22A1_chr6_160116815_160163718	160152711	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	416	0.0024	23	c.138 others(42): Show c.1386-2085_1386-2084insCTTTCTTTCTTTCTTTCTTTCTT	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3279509	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0067 a0001c0001t0039g0067	1	222	0.0045	23	c.170 others(42): Show c.1703+4320_1703+4342dupTTTTTTTTTTTTTTTTTTTTTTT	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	9/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3310416	C C	CCTGTCTC others(16): Show CCTGTCTCCCAGGGAGCACCCTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01261.hp2 others(34): Show HG00558.hp1 HG00621.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02723.hp2 HG03225.hp2 HG03516.hp2 NA18747.hp1 NA18945.hp1 NA18955.hp1 NA18992.hp1 NA18993.hp2 NA19007.hp1 NA19030.hp2 NA19056.hp2 NA19063.hp1 NA19068.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0052 a0001c0001t0055 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0006 a0001c0003t0012 a0001c0006t0012	a0001c0001t0001g0035 a0001c0001t0001g0070 a0001c0001t0001g0071 others(34): Show a0001c0001t0001g0035 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0004g0192 a0001c0001t0005g0139 a0001c0001t0007g0144 a0001c0001t0009g0030 a0001c0001t0010g0062 a0001c0001t0011g0214 a0001c0001t0014g0047 a0001c0001t0018g0019 a0001c0001t0023g0084 a0001c0001t0023g0131 a0001c0001t0028g0015 a0001c0001t0032g0120 a0001c0001t0034g0034 a0001c0001t0052g0209 a0001c0001t0055g0201 a0001c0002t0001g0090 a0001c0002t0002g0098 a0001c0002t0002g0159 a0001c0002t0008g0089 a0001c0002t0008g0121 a0001c0003t0006g0077 a0001c0003t0006g0104 a0001c0003t0006g0140 a0001c0003t0012g0128 a0001c0006t0012g0168	37	222	0.1667	23	c.108 others(44): Show c.1083-12199_1083-12198insACAGGGTGCTCCCTGGGAGACAG	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	4/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3362404	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0197	1	222	0.0045	23	c.914 others(42): Show c.914-38403_914-38402insTTTTTTTTTTTTTTTTTTTTTTT	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A25_chr11_63153437_63248599	63247747	G G	GGGGGGGT others(16): Show GGGGGGGTGTTTTTTTTTGTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0016 a0002c0002t0026g0016	1	344	0.0029	23	c.-53 others(34): Show c.-5310_-5309insAAAAACAAAAAAAAACACCCCCC	SLC22A25	ENSG00000196600.13	transcript	ENST00000306494.11	protein_coding		4149		chr11	TogoVar
SLC22A9_chr11_63364785_63415294	63410257	A A	AAAAAAAG others(16): Show AAAAAAAGAAGGAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0081 a0001c0002t0047g0081	1	346	0.0029	23	c.39 others(32): Show c.398_*399insAAAGAAGGAAAGAAAGAAAGAAA	SLC22A9	ENSG00000149742.10	transcript	ENST00000279178.4	protein_coding	10/10	399	INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(16): Show TTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03139.hp2 NA18994.hp2 HG00280.hp1 HG03139.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0022 a0001c0002 a0001c0004 a0001c0022	a0001c0002t0086 a0001c0004t0072 a0001c0022t0001 a0001c0002t0086 a0001c0004t0072 a0001c0022t0001	a0001c0002t0086g0098 a0001c0004t0072g0128 a0001c0022t0001g0126 a0001c0002t0086g0098 a0001c0004t0072g0128 a0001c0022t0001g0126	3	188	0.0160	23	c.931 others(42): Show c.931-14017_931-14016insGAAAGAAAAGAAAAGAAAAGAAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 8696 hits)