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
GABRA3_chrX_152161234_152456315	152212308	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp1 HG01515.hp1 HG01081.hp2 HG01256.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0112 a0001c0001t0007g0157 a0001c0001t0007g0165 a0001c0001t0001g0112 a0001c0001t0007g0157 a0001c0001t0007g0165	3	204	0.0147	-24	c.635 others(41): Show c.635-4188_635-4165delATTTTTTTTTTTTTTTTTTTTTTT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	6/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152216389	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG06807.hp1 others(1): Show HG02630.hp2 HG02647.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0150 a0001c0001t0001g0194 a0001c0001t0011g0203 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0194 a0001c0001t0011g0203 a0001c0001t0011g0204	4	204	0.0196	-24	c.635 others(41): Show c.635-8269_635-8246delGTGTGTGTGTGTGTGTGTGTGTGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	6/9			chrX	TogoVar
GABRA5_chr15_26862062_26954208	26953195	TTATCTTC others(17): Show TTATCTTCCAGACGTGAGACTTGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	376	0.0027	-24	c.49 others(35): Show c.4963_*4986delTATCTTCCAGACGTGAGACTTGCA	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding		3988		chr15	TogoVar
GABRB1_chr4_47026567_47431447	47150325	CACACACA others(17): Show CACACACACACACACACACGCACAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0054 a0001c0005t0003g0054	1	158	0.0063	-24	c.241 others(43): Show c.241-10909_241-10886delACACGCACATACACACACACACAC	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47195432	ATAGATAG others(17): Show ATAGATAGATAGATGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02970.hp1 HG02976.hp1 others(3): Show HG01099.hp1 HG02970.hp1 HG02976.hp1 HG03209.hp2 NA18906.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0003t0005 a0001c0003t0008 others(2): Show a0001c0001t0001 a0001c0003t0005 a0001c0003t0008 a0001c0007t0005 a0001c0008t0001	a0001c0001t0001g0002 a0001c0003t0005g0024 a0001c0003t0005g0026 others(3): Show a0001c0001t0001g0002 a0001c0003t0005g0024 a0001c0003t0005g0026 a0001c0003t0008g0027 a0001c0007t0005g0127 a0001c0008t0001g0035	6	158	0.0380	-24	c.461 others(43): Show c.461+33969_461+33992delAGATAGATGATAGATAGATTAGAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47195441	TAGATGAT others(17): Show TAGATGATAGATAGATTAGATGATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18946.hp1 NA18984.hp1 HG02451.hp1 NA18946.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0004 a0001c0003t0006 a0001c0001t0001 a0001c0002t0004 a0001c0003t0006	a0001c0001t0001g0158 a0001c0002t0004g0112 a0001c0003t0006g0015 a0001c0001t0001g0158 a0001c0002t0004g0112 a0001c0003t0006g0015	3	158	0.0190	-24	c.461 others(43): Show c.461+33973_461+33996delAGATGATAGATAGATTAGATGATA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8			chr4	TogoVar
GABRB1_chr4_47026567_47431447	47195445	TGATAGAT others(17): Show TGATAGATAGATTAGATGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18939.hp2 NA18994.hp2 HG03491.hp1 NA18939.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0002 a0001c0003t0004 a0001c0002t0004 a0001c0003t0002 a0001c0003t0004	a0001c0002t0004g0113 a0001c0003t0002g0142 a0001c0003t0004g0117 a0001c0002t0004g0113 a0001c0003t0002g0142 a0001c0003t0004g0117	3	158	0.0190	-24	c.461 others(43): Show c.461+33988_461+34011delTAGATGATAGATAGATAGATAGAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246337	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01175.hp1 others(6): Show HG00735.hp1 HG01081.hp1 HG01175.hp1 HG02572.hp2 HG02818.hp2 HG03540.hp1 NA18951.hp1 NA18965.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0011 a0001c0001 a0001c0005 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0005t0003 a0002c0011t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0122 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0008g0017 a0001c0005t0003g0144 a0002c0011t0002g0096	9	158	0.0570	-24	c.462 others(43): Show c.462-73754_462-73731delTATATATATATATATATATATATA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47283356	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0003t0012 a0001c0001t0003 a0001c0003t0003 a0001c0003t0012	a0001c0001t0003g0011 a0001c0003t0003g0005 a0001c0003t0012g0139 a0001c0001t0003g0011 a0001c0003t0003g0005 a0001c0003t0012g0139	3	158	0.0190	-24	c.462 others(43): Show c.462-36747_462-36724delTTTTTTTTTTTTTTTTTTTTTTTT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47354903	ACCTGCCT others(17): Show ACCTGCCTGCCTGCCTGCCTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00735.hp2 others(44): Show HG00280.hp1 HG00639.hp2 HG00735.hp2 HG01081.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG04199.hp1 HG04204.hp2 NA19030.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0011 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0010 a0001c0003t0011 a0001c0004t0003 a0001c0004t0005 a0001c0005t0003 a0002c0011t0002 a0003c0012t0001	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 others(44): Show a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0002g0107 a0001c0001t0002g0136 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0003g0011 a0001c0001t0004g0025 a0001c0001t0004g0150 a0001c0001t0005g0149 a0001c0001t0006g0133 a0001c0001t0007g0013 a0001c0001t0008g0017 a0001c0001t0008g0147 a0001c0002t0002g0018 a0001c0002t0002g0023 a0001c0002t0003g0016 a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0071 a0001c0002t0007g0099 a0001c0003t0001g0091 a0001c0003t0001g0141 a0001c0003t0004g0117 a0001c0003t0005g0050 a0001c0003t0006g0015 a0001c0003t0006g0128 a0001c0003t0010g0070 a0001c0003t0011g0052 a0001c0003t0011g0056 a0001c0004t0003g0043 a0001c0004t0005g0081 a0001c0005t0003g0009 a0001c0005t0003g0012 a0001c0005t0003g0054 a0001c0005t0003g0130 a0001c0005t0003g0137 a0001c0005t0003g0144 a0002c0011t0002g0096 a0003c0012t0001g0108	47	158	0.2975	-24	c.544 others(43): Show c.544+34710_544+34733delGCCTGCCTGCCTGCCTGCCTGCCT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161385947	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0024 a0001c0001t0034g0024	1	266	0.0038	-24	c.541 others(43): Show c.541+25004_541+25027delACACACACACACACACACACACAC	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161393299	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18747.hp1 HG04228.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0039 a0001c0001t0020 a0001c0001t0039	a0001c0001t0020g0215 a0001c0001t0039g0261 a0001c0001t0020g0215 a0001c0001t0039g0261	2	266	0.0075	-24	c.541 others(43): Show c.541+17652_541+17675delTTTTTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161463549	TTTTATTT others(17): Show TTTTATTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0093 a0001c0001t0009g0093	1	266	0.0038	-24	c.238 others(41): Show c.238-3729_238-3706delTATATATATATATATATAAATAAA	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161469672	CACACATA others(17): Show CACACATACACATACACATACACAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01257.hp1 others(4): Show HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp2 HG02572.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0039 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0039 a0001c0001t0050	a0001c0001t0001g0263 a0001c0001t0017g0088 a0001c0001t0017g0096 others(4): Show a0001c0001t0001g0263 a0001c0001t0017g0088 a0001c0001t0017g0096 a0001c0001t0017g0262 a0001c0001t0017g0264 a0001c0001t0039g0261 a0001c0001t0050g0252	7	266	0.0263	-24	c.238 others(41): Show c.238-9852_238-9829delATGTGTATGTGTATGTGTATGTGT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26764165	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0079 a0001c0001t0011g0079	1	204	0.0049	-24	c.240 others(41): Show c.240+8213_240+8236delATATATATATTTTTTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764169	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02155.hp2 NA18980.hp2 HG01433.hp1 HG02155.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0003g0144 a0001c0001t0004g0047 a0001c0001t0001g0048 a0001c0001t0003g0144 a0001c0001t0004g0047	3	204	0.0147	-24	c.240 others(41): Show c.240+8209_240+8232delATATATATATATATTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764173	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	204	0.0049	-24	c.240 others(41): Show c.240+8205_240+8228delATATATATATATATATATTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764177	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0004 a0001c0002t0007g0004	1	204	0.0049	-24	c.240 others(41): Show c.240+8201_240+8224delATATATATATATATATATATATTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRE_chrX_151948124_151979676	151974497	CGGGAGCC others(17): Show CGGGAGCCGTCCCGGCTCCCGGGGA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02523.hp1 NA18612.hp1 others(2): Show HG02135.hp1 HG02523.hp1 NA18612.hp1 NA19003.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0001c0001t0001 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 others(2): Show a0001c0001t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0004t0001g0037	5	326	0.0153	-24	c.56+ others(35): Show c.56+49_56+72delTCCCCGGGAGCCGGGACGGCTCCC	GABRE	ENSG00000102287.19	transcript	ENST00000370328.4	protein_coding	1/8			chrX	TogoVar
GABRG1_chr4_46030769_46129054	46076361	TCATATAT others(17): Show TCATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0078 a0001c0002t0005g0078	1	308	0.0033	-24	c.321 others(41): Show c.321+7601_321+7624delTATATATATATATATATATATATG	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	3/8			chr4	TogoVar
GABRG3_chr15_26966181_27546984	27313254	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0078 a0001c0004t0011g0078	1	92	0.0109	-24	c.271 others(43): Show c.271-13553_271-13530delGTGTGTGTATATATATATATATAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27313256	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0024 a0001c0014t0024	a0001c0014t0024g0057 a0001c0014t0024g0057	1	92	0.0109	-24	c.271 others(43): Show c.271-13551_271-13528delGTGTGTATATATATATATATATAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRQ_chrX_152632895_152662542	152659792	TATATACA others(17): Show TATATACATATACATATACATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	298	0.0034	-24	c.65 others(35): Show c.6512_*6535delATATACATATACATATACATATAC	GABRQ	ENSG00000268089.3	transcript	ENST00000598523.3	protein_coding		2251		chrX	TogoVar
GAD1_chr2_170811887_170866151	170828197	TCTCCTCT others(17): Show TCTCCTCTCTCTGCTATCCTCACCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp1 others(41): Show HG00408.hp2 HG00438.hp1 HG00597.hp1 HG01069.hp2 HG01975.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02523.hp2 HG02717.hp2 HG02896.hp2 HG03239.hp2 HG03453.hp1 HG03927.hp1 HG04184.hp2 NA18612.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18978.hp2 NA18984.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0005c0010t0003	a0001c0001t0001g0089 a0001c0001t0001g0228 a0001c0001t0001g0266 others(40): Show a0001c0001t0001g0089 a0001c0001t0001g0228 a0001c0001t0001g0266 a0001c0001t0001g0315 a0001c0001t0001g0328 a0001c0001t0001g0374 a0001c0001t0003g0016 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0255 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0300 a0001c0001t0003g0308 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0350 a0001c0001t0003g0353 a0001c0001t0003g0358 a0001c0001t0003g0369 a0001c0001t0003g0371 a0001c0001t0003g0372 a0001c0001t0003g0373 a0001c0002t0001g0145 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0005c0010t0003g0301	44	412	0.1068	-24	c.146 others(41): Show c.146-1270_146-1247delCTCTGCTATCCTCACCCCTCCTCT	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GADD45B_chr19_2471127_2483257	2482801	ACACACAC others(17): Show ACACACACACATGCACACACGCATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02258.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	460	0.0044	-24	c.52 others(35): Show c.5201_*5224delCACACACACATGCACACACGCATG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		4545		chr19	TogoVar
GAGE12D_chrX_49536733_49554094	49538228	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0014 a0005c0005t0001g0014	1	72	0.0139	-24	c.-36 others(35): Show c.-3620_-3597delTTTATTTATTTATTTATTTATTTA	GAGE12D	ENSG00000227488.3	transcript	ENST00000405679.4	protein_coding		3504		chrX	TogoVar
GAGE12E_chrX_49546289_49563645	49547784	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03139.hp1 HG03195.hp1 HG02109.hp2 HG03139.hp1 HG03195.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0022 a0006c0005t0001g0023 a0006c0005t0001g0024 a0006c0005t0001g0022 a0006c0005t0001g0023 a0006c0005t0001g0024	3	100	0.0300	-24	c.-36 others(35): Show c.-3620_-3597delTTTATTTATTTATTTATTTATTTA	GAGE12E	ENSG00000216649.5	transcript	ENST00000381698.5	protein_coding		3504		chrX	TogoVar
GAGE2A_chrX_49584496_49601824	49585625	TTTCATTG others(17): Show TTTCATTGTCAGTAAGACAGTGAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	130	0.0077	-24	c.-39 others(35): Show c.-3986_-3963delTTCATTGTCAGTAAGACAGTGAGC	GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding		3870		chrX	TogoVar
GALK1_chr17_75752894_75770192	75754938	ACATGCAC others(17): Show ACATGCACGCACACACGTGCACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	452	0.0022	-24	c.30 others(35): Show c.3094_*3117delCGTGTGCACGTGTGTGCGTGCATG	GALK1	ENSG00000108479.13	transcript	ENST00000588479.6	protein_coding		2955		chr17	TogoVar
GALK2_chr15_49165247_49336882	49277137	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00735.hp2 others(4): Show HG00099.hp1 HG00642.hp2 HG00735.hp2 HG02135.hp2 HG02165.hp2 HG02451.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0002t0051 a0001c0001t0006 a0001c0002t0003 a0001c0002t0051	a0001c0001t0006g0024 a0001c0002t0003g0133 a0001c0002t0003g0149 others(4): Show a0001c0001t0006g0024 a0001c0002t0003g0133 a0001c0002t0003g0149 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0158 a0001c0002t0051g0169	7	348	0.0201	-24	c.505 others(41): Show c.505-4824_505-4801delTTTTTTTTTTTTTTTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38675539	TTTTTTGT others(17): Show TTTTTTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18953.hp1 NA18979.hp1 others(1): Show NA18943.hp2 NA18953.hp1 NA18979.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 others(1): Show a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266	4	328	0.0122	-24	c.191 others(39): Show c.191-371_191-348delTTTTGTGTGTGTGTGTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38686220	ATTTCTTT others(17): Show ATTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01071.hp2 HG01261.hp1 others(44): Show HG00408.hp2 HG01071.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02083.hp2 HG02135.hp2 HG02683.hp2 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp1 HG04199.hp1 HG04228.hp2 NA18939.hp2 NA18943.hp2 NA18945.hp2 NA18950.hp1 NA18953.hp1 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18985.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19065.hp1 NA19068.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0013	a0001c0001t0001g0302 a0002c0002t0001g0186 a0002c0002t0001g0201 others(44): Show a0001c0001t0001g0302 a0002c0002t0001g0186 a0002c0002t0001g0201 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0306 a0002c0002t0001g0311 a0002c0002t0003g0303 a0002c0002t0003g0304 a0002c0002t0003g0305 a0002c0002t0006g0275 a0002c0002t0006g0296 a0002c0002t0006g0299 a0002c0002t0008g0284 a0002c0002t0010g0187 a0002c0002t0010g0279 a0002c0002t0013g0209	47	328	0.1433	-24	c.553 others(41): Show c.553-3558_553-3535delTCTTTCTTTCTTTCTTTCTTTCTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT10_chr5_154185733_154425984	154214524	TGCTTCCT others(17): Show TGCTTCCTTTTTTAAACTTAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(77): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02683.hp1 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp2 NA18952.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19079.hp2 NA19083.hp2 NA19085.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0037 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0036 a0001c0003t0010 a0001c0003t0033 a0001c0003t0034 a0001c0005t0006 a0001c0006t0010	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0076 others(77): Show a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0103 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0110 a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0007g0067 a0001c0001t0007g0093 a0001c0001t0007g0100 a0001c0001t0007g0102 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0129 a0001c0001t0007g0132 a0001c0001t0008g0096 a0001c0001t0008g0119 a0001c0001t0008g0128 a0001c0001t0008g0151 a0001c0001t0008g0157 a0001c0001t0008g0164 a0001c0001t0017g0145 a0001c0001t0037g0121 a0001c0001t0039g0152 a0001c0001t0042g0086 a0001c0001t0043g0114 a0001c0001t0044g0091 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0005g0033 a0001c0002t0005g0034 a0001c0002t0006g0101 a0001c0002t0007g0170 a0001c0002t0008g0079 a0001c0002t0008g0080 a0001c0002t0008g0113 a0001c0002t0008g0158 a0001c0002t0012g0084 a0001c0002t0012g0097 a0001c0002t0012g0098 a0001c0002t0012g0105 a0001c0002t0012g0130 a0001c0002t0012g0159 a0001c0002t0036g0153 a0001c0003t0010g0070 a0001c0003t0010g0088 a0001c0003t0010g0094 a0001c0003t0010g0095 a0001c0003t0010g0099 a0001c0003t0033g0111 a0001c0003t0034g0078 a0001c0005t0006g0112 a0001c0006t0010g0090 a0001c0006t0010g0104	80	236	0.3390	-24	c.159 others(43): Show c.159+23501_159+23524delCTTCCTTTTTTAAACTTAAAAAAG	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT13_chr2_153866922_154458979	153963729	CTCTGTGT others(17): Show CTCTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18959.hp1 NA18961.hp1 others(3): Show NA18939.hp2 NA18959.hp1 NA18961.hp1 NA18990.hp2 NA19063.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 others(3): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0040 a0001c0001t0046 a0001c0001t0071	a0001c0001t0012g0182 a0001c0001t0013g0174 a0001c0001t0016g0176 others(3): Show a0001c0001t0012g0182 a0001c0001t0013g0174 a0001c0001t0016g0176 a0001c0001t0040g0082 a0001c0001t0046g0186 a0001c0001t0071g0175	6	214	0.0280	-24	c.142 others(43): Show c.142+19092_142+19115delCTGTGTGTGTGTGTGTGTGTGTGT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110278	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02602.hp2 HG02698.hp1 others(3): Show HG02129.hp2 HG02602.hp2 HG02698.hp1 HG02818.hp1 HG03491.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 others(2): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0041 a0001c0001t0070	a0001c0001t0005g0119 a0001c0001t0013g0167 a0001c0001t0016g0163 others(3): Show a0001c0001t0005g0119 a0001c0001t0013g0167 a0001c0001t0016g0163 a0001c0001t0016g0169 a0001c0001t0041g0094 a0001c0001t0070g0158	6	214	0.0280	-24	c.143 others(43): Show c.143-30023_143-30000delTATATATATATATATATATATATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110314	TATATATA others(17): Show TATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03017.hp1 HG02809.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0022 a0001c0001t0023	a0001c0001t0022g0066 a0001c0001t0023g0013 a0001c0001t0022g0066 a0001c0001t0023g0013	2	214	0.0094	-24	c.143 others(43): Show c.143-30021_143-29998delTATATATATATATATATATATAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110316	TATATATA others(17): Show TATATATATATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02135.hp1 HG03834.hp2 others(1): Show HG00738.hp1 HG02135.hp1 HG03834.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0029 others(1): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0029 a0001c0001t0069	a0001c0001t0010g0201 a0001c0001t0013g0161 a0001c0001t0029g0166 others(1): Show a0001c0001t0010g0201 a0001c0001t0013g0161 a0001c0001t0029g0166 a0001c0001t0069g0171	4	214	0.0187	-24	c.143 others(43): Show c.143-30019_143-29996delTATATATATATATATATATAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110318	TATATATA others(17): Show TATATATATATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0142 a0001c0001t0025g0142	1	214	0.0047	-24	c.143 others(43): Show c.143-30017_143-29994delTATATATATATATATATAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110320	TATATATA others(17): Show TATATATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03942.hp2 HG01123.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0107 a0001c0001t0018g0159 a0001c0001t0002g0107 a0001c0001t0018g0159	2	214	0.0094	-24	c.143 others(43): Show c.143-30015_143-29992delTATATATATATATATAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110322	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0170 a0001c0001t0018g0170	1	214	0.0047	-24	c.143 others(43): Show c.143-30013_143-29990delTATATATATATATAGAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110324	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0144 a0001c0001t0014g0144	1	214	0.0047	-24	c.143 others(43): Show c.143-30011_143-29988delTATATATATATAGAGAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154133532	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18953.hp2 HG03225.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0075 a0001c0001t0015 a0001c0001t0075	a0001c0001t0015g0015 a0001c0001t0075g0085 a0001c0001t0015g0015 a0001c0001t0075g0085	2	214	0.0094	-24	c.143 others(41): Show c.143-6803_143-6780delTTATATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154334591	ATCAGAAA others(17): Show ATCAGAAAACTTGCCATCATTCTTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01069.hp2 others(30): Show HG00140.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01884.hp2 HG01891.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02818.hp1 HG03195.hp2 HG03490.hp1 HG03540.hp1 HG03834.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18959.hp2 NA18998.hp1 NA19030.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19083.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0057 a0001c0001t0062 a0001c0001t0066	a0001c0001t0002g0106 a0001c0001t0003g0018 a0001c0001t0003g0028 others(30): Show a0001c0001t0002g0106 a0001c0001t0003g0018 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0005g0103 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0007g0207 a0001c0001t0008g0017 a0001c0001t0008g0019 a0001c0001t0009g0102 a0001c0001t0010g0191 a0001c0001t0012g0179 a0001c0001t0012g0180 a0001c0001t0013g0152 a0001c0001t0014g0143 a0001c0001t0014g0144 a0001c0001t0015g0145 a0001c0001t0016g0163 a0001c0001t0017g0168 a0001c0001t0018g0153 a0001c0001t0018g0170 a0001c0001t0023g0033 a0001c0001t0025g0142 a0001c0001t0026g0184 a0001c0001t0026g0185 a0001c0001t0037g0115 a0001c0001t0040g0082 a0001c0001t0043g0213 a0001c0001t0045g0211 a0001c0001t0057g0150 a0001c0001t0062g0039 a0001c0001t0066g0006	33	214	0.1542	-24	c.115 others(45): Show c.1156+33007_1156+33030delAAAACTTGCCATCATTCTTCTCAG	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989630	AAAAATAT others(17): Show AAAAATATATATATTAGTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 HG03209.hp1 others(1): Show HG02257.hp2 HG02970.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0120	4	226	0.0177	-24	c.299 others(41): Show c.299+3184_299+3207delAATATATACTAATATATATATTTT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31072261	TCTCACAC others(17): Show TCTCACACACACACACACACATACA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG03579.hp2 HG02622.hp2 HG02809.hp2 HG03579.hp2	a0003 a0003	a0003c0007 a0003c0008 a0003c0007 a0003c0008	a0003c0007t0001 a0003c0008t0001 a0003c0007t0001 a0003c0008t0001	a0003c0007t0001g0082 a0003c0008t0001g0083 a0003c0008t0001g0084 a0003c0007t0001g0082 a0003c0008t0001g0083 a0003c0008t0001g0084	3	226	0.0133	-24	c.129 others(43): Show c.129+65673_129+65696delTGTATGTGTGTGTGTGTGTGTGAG	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16232469	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0117 a0001c0002t0005g0117	1	388	0.0026	-24	c.49 others(35): Show c.4970_*4993delATATATATATATATATATATATAT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2305		chr3	TogoVar
GALNT15_chr3_16169680_16235165	16232492	ATATATAT others(17): Show ATATATATATATATATATATTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0001 a0003c0036t0001	a0003c0036t0001g0126 a0003c0036t0001g0126	1	388	0.0026	-24	c.49 others(35): Show c.4993_*5016delTATATATATATATATATATTTATT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2328		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69322978	GTGTGCGC others(17): Show GTGTGCGCGCGCACGCGCGCACGCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01943.hp2 others(8): Show HG00558.hp2 HG00738.hp2 HG01943.hp2 HG02135.hp2 HG02572.hp2 HG03209.hp1 HG03688.hp1 HG04199.hp2 NA18973.hp1 NA18994.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0058 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0002g0005 a0001c0001t0002g0042 a0001c0001t0002g0286 a0001c0001t0003g0037 a0001c0001t0003g0059 a0001c0001t0015g0057 a0001c0003t0001g0067	11	306	0.0360	-24	c.336 others(41): Show c.336-1711_336-1688delTGCGCGCGCACGCGCGCACGCATG	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71657882	ATGGATGG others(17): Show ATGGATGGATGGATGGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	76	0.0132	-24	c.108 others(43): Show c.1081-7511_1081-7488delGGATGGGTGGATGGATGGATGGAT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT18_chr11_11265877_11627005	11497327	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0144 a0001c0004t0001g0144	1	260	0.0039	-24	c.236 others(43): Show c.236-48415_236-48392delGTGTGTGTGTGTGTGTGTGTGTGT	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	1/10			chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)