Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG01928.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0089 a0001c0001t0061 a0001c0001t0089	a0001c0001t0061g0096 a0001c0001t0089g0097 a0001c0001t0061g0096 a0001c0001t0089g0097	2	366	0.0055	46	c.56 others(57): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(39): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0166 a0001c0001t0073g0166	1	366	0.0027	46	c.56 others(57): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNG2_chr14_51855612_51974795	51942591	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 NA18951.hp1 others(1): Show HG02486.hp1 HG02622.hp2 NA18951.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0017 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0023 a0001c0002t0074	a0001c0001t0001g0235 a0001c0001t0017g0354 a0001c0001t0023g0095 others(1): Show a0001c0001t0001g0235 a0001c0001t0017g0354 a0001c0001t0023g0095 a0001c0002t0074g0008	4	380	0.0105	46	c.-29 others(63): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT		GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr14	TogoVar
GOLGA6L6_chr15_20526856_20546800	20542562	C C	CACACACA others(39): Show CACACACACACACACACGCACAGACACACACACACACACACGCACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0035 a0035	a0035c0048 a0035c0048	a0035c0048t0002 a0035c0048t0002	a0035c0048t0002g0107 a0035c0048t0002g0107	1	214	0.0047	46	c.-85 others(55): Show c.-854_-853insCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCGTGTGT GTGTGTGTGT		GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding					763		chr15	TogoVar
GOLM2_chr15_44283719_44420758	44369079	A A	ATTATATA others(39): Show ATTATATATATATATATATACATATTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00673.hp1 others(6): Show HG00408.hp1 HG00597.hp2 HG00673.hp1 HG00735.hp2 NA18952.hp1 NA18953.hp1 NA18985.hp1 NA19055.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 others(6): Show a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101	9	150	0.0600	46	c.803 others(65): Show c.803-10610_803-10609insTATATATATATATATATACATATTAT ATATATATATATATATATGT		GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GP6_chr19_55008705_55043264	55024360	A A	ATGCACGC others(39): Show ATGCACGCACACACGCACATGCACGCACACACATGCACGCACACACG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG03209.hp1 HG01109.hp1 HG02622.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0179 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0179	3	441	0.0068	46	c.664 others(61): Show c.664+857_664+858insCGTGTGTGCGTGCATGTGTGTGCGTGCATG TGCGTGTGTGCGTGCA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	5/7						chr19	TogoVar
GPAA1_chr8_144077634_144091216	144089707	T T	TATACATA others(39): Show TATACATATATATATATATATACATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	46	c.35 others(57): Show c.3582_*3583insATACATATATATATATATATACATATATATATAT ATATATATATAC		GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding					3492		chr8	TogoVar
GPAT3_chr4_83531108_83610875	83562188	T T	TATATATA others(39): Show TATATATATAATATATATATATTATATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	1	334	0.0030	46	c.208 others(65): Show c.208+17595_208+17596insATATATATATATTATATATATATATA ATATATATATAATATATATA		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GPATCH8_chr17_44390281_44508406	44453500	G G	GGTGTGTG others(39): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 HG03130.hp2 HG02145.hp2 HG02922.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160	3	326	0.0092	46	c.193 others(65): Show c.193+10971_193+10972insACACACACACACACACACACACACAC ACACACACACACACACACAC		GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	3/7						chr17	TogoVar
GPC6_chr13_93221807_94413020	93324577	C C	CATACATA others(39): Show CATACATACATATATATATATACACACATACATACATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0031 a0001c0001t0031g0031	1	76	0.0132	46	c.160 others(65): Show c.160+96962_160+96963insTACATACATATATATATATACACACA TACATACATATATATATATA		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	67144286	T T	TATATATA others(39): Show TATATATATATATATATATACATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	234	0.0043	46	c.183 others(63): Show c.1836+838_1836+839insTATATATATATATATATACATACATATA TATATATATATATATACA		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67144286	T T	TATATATA others(39): Show TATATATATATATATATATATACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02293.hp1 HG02040.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0173 a0001c0001t0010g0206 a0001c0001t0001g0173 a0001c0001t0010g0206	2	234	0.0086	46	c.183 others(63): Show c.1836+838_1836+839insTATATATATATATATATATACATATATA TATATATATATATATACA		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67144286	T T	TATATATA others(39): Show TATATATATATATATATATATATACATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	234	0.0043	46	c.183 others(63): Show c.1836+838_1836+839insTATATATATATATATATATATACATATA TATATATATATATACACA		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143216105	C C	CGGGGGGG others(39): Show CGGGGGGGGGGGCTGGGGGGACAGGCACCAAGTATGAAGAGGATCGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0011 a0001c0001t0015g0011	1	106	0.0094	46	c.59 others(55): Show c.596_*597insGGCTGGGGGGACAGGCACCAAGTATGAAGAGGATCG GGGGGGGGGG		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding	4/4				597	INFO_REALIGN_3_PRIME	chr8	TogoVar
GPNMB_chr7_23241775_23280108	23275421	T T	TATATATA others(39): Show TATATATATATATACATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	2	380	0.0053	46	c.11 others(57): Show c.1197_*1198insATATATATATATACATATATATATATATATATAT ATATATATATAC		GPNMB	ENSG00000136235.17	transcript	ENST00000258733.9	protein_coding					314		chr7	TogoVar
GPR137C_chr14_52547836_52642713	52553256	T T	TCCCCCCC others(39): Show TCCCCCCCCTCGCTGCCCCCCCCCCCCTCCCCCCCCCCCCGCCCCCC	frameshift_variant frameshift_variant	HIGH	HG02040.hp2 HG02040.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0248 a0007c0010t0001g0248	1	346	0.0029	46	c.110 others(53): Show c.110_111insCCCCCCCTCGCTGCCCCCCCCCCCCTCCCCCCCCCCCC GCCCCCCC	p.Gly others(4): Show p.Gly38fs	GPR137C	ENSG00000180998.12	transcript	ENST00000321662.11	protein_coding	1/7	423/4200	111/1290	37/429		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR139_chr16_20023239_20078890	20041142	A A	AGAGGGAG others(39): Show AGAGGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0347 a0001c0001t0066g0347	1	364	0.0028	46	c.128 others(63): Show c.128-8474_128-8473insCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCTCCCTC		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GPR139_chr16_20023239_20078890	20041251	G G	GAGAGGAG others(39): Show GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0245 a0001c0001t0021g0245	1	364	0.0028	46	c.128 others(63): Show c.128-8583_128-8582insTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCT		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GPR146_chr7_1039546_1064261	1060001	T T	TTAGTGGG others(39): Show TTAGTGGGGCGGGTCTGTAGTGGGGCGGGTCTTAGTGGGGCGGGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02896.hp2 HG01891.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0168 a0001c0001t0001g0172	2	434	0.0046	46	c.14 others(57): Show c.1484_*1485insTAGTGGGGCGGGTCTGTAGTGGGGCGGGTCTTAG TGGGGCGGGTCC		GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding					741		chr7	TogoVar
GPR158_chr10_25170001_25607229	25241372	C C	CTCTTTTC others(39): Show CTCTTTTCTCTTCTCTCTTCTCTCTTCTCCTCTTCTCTCTTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	162	0.0062	46	c.100 others(67): Show c.1008+20218_1008+20219insTTTCTCTTCTCTCTTCTCTCTTCT CCTCTTCTCTCTTCTCTCTTCT		GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR162_chr12_6816821_6832421	6831079	T T	TTTCAAAC others(39): Show TTTCAAACACTGGTGCAAACATACTTAGCTGGAGAGTTCAAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	458	0.0022	46	c.38 others(57): Show c.3875_*3876insTTCAAACACTGGTGCAAACATACTTAGCTGGAGA GTTCAAAGAAGA		GPR162	ENSG00000250510.8	transcript	ENST00000311268.8	protein_coding					3659		chr12	TogoVar
GPR173_chrX_53043789_53085615	53057764	A A	AAAAAGAA others(39): Show AAAAAGAAAAGAAAAGAAAAAGAAACAGAAGGAAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18994.hp1 HG00438.hp2 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0066 a0001c0003t0007 a0001c0003t0066	a0001c0003t0007g0043 a0001c0003t0066g0032 a0001c0003t0007g0043 a0001c0003t0066g0032	2	208	0.0096	46	c.-98 others(63): Show c.-98+8296_-98+8341dupAAAAAGAAACAGAAGGAAAAGAAAGAAA GAGAAAAGAAAAGAAAAG		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53061991	A A	AGGGAAGA others(39): Show AGGGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG03195.hp2 others(1): Show HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0016 a0001c0001t0030 a0001c0002t0002 others(1): Show a0001c0001t0016 a0001c0001t0030 a0001c0002t0002 a0001c0003t0002	a0001c0001t0016g0004 a0001c0001t0030g0063 a0001c0002t0002g0202 others(1): Show a0001c0001t0016g0004 a0001c0001t0030g0063 a0001c0002t0002g0202 a0001c0003t0002g0030	4	208	0.0192	46	c.-98 others(65): Show c.-98+12507_-98+12508insGGGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAG		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar
GPR174_chrX_79139688_79180318	79142689	T T	TATATATA others(39): Show TATATATATATACATACATATATATATATATATATATATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0004 a0002c0002t0007g0004	1	315	0.0032	46	c.-31 others(57): Show c.-3182_-3181insATATATATATACATACATATATATATATATATAT ATATATACATAC		GPR174	ENSG00000147138.3	transcript	ENST00000645147.2	protein_coding					1998		chrX	TogoVar
GPR26_chr10_123661355_123702399	123675833	C C	CGTGTGTG others(39): Show CGTGTGTGTGTGTGTGTGTGTACGTGTGTGTGTGTACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0106 a0001c0002t0002g0106	1	412	0.0024	46	c.782 others(61): Show c.782+922_782+923insACGTGTGTGTGTGTACGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT		GPR26	ENSG00000154478.4	transcript	ENST00000284674.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR26_chr10_123661355_123702399	123675833	C C	CGTGTGTG others(39): Show CGTGTGTGTGTGTGTGTGTGTGTACGTGTGTGTGTGTACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18942.hp2 HG02080.hp1 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0064 a0001c0002t0002 a0001c0002t0064	a0001c0002t0002g0155 a0001c0002t0064g0163 a0001c0002t0002g0155 a0001c0002t0064g0163	2	412	0.0049	46	c.782 others(61): Show c.782+925_782+926insCGTGTGTGTGTGTACGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTA		GPR26	ENSG00000154478.4	transcript	ENST00000284674.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR42_chr19_35366068_35377962	35375461	G G	GGAAAGAA others(39): Show GGAAAGAAAGAAAGAGAGAAAGAAAGAAAAGGAAAGAAGGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG01256.hp1 others(34): Show HG01099.hp1 HG01243.hp2 HG01256.hp1 HG01993.hp1 HG02109.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02717.hp2 HG02965.hp1 HG02976.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG04199.hp2 NA18947.hp1 NA18952.hp1 NA18959.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18984.hp1 NA18994.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19086.hp1 NA19087.hp2	a0001 a0012 a0023 a0001 a0012 a0023	a0001c0001 a0012c0012 a0023c0026 a0001c0001 a0012c0012 a0023c0026	a0001c0001t0001 a0001c0001t0005 a0012c0012t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0012c0012t0001 a0023c0026t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0005g0001 a0012c0012t0001g0001 a0023c0026t0004g0001	37	399	0.0927	46	c.30 others(57): Show c.3061_*3062insGAAAGAAAGAAAGAGAGAAAGAAAGAAAAGGAAA GAAGGAAAGAAA		GPR42	ENSG00000126251.7	transcript	ENST00000454971.3	protein_coding					2500		chr19	TogoVar
GPRC5D_chr12_12935575_12957170	12956446	T T	TTTCCTTC others(39): Show TTTCCTTCCTTCCTTCTCCTTCCTTTTTCCTCCCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG03490.hp1 HG03710.hp1 others(2): Show HG01981.hp2 HG03490.hp1 HG03710.hp1 NA18950.hp2 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0004 a0001c0002t0001g0078 a0001c0002t0001g0119 others(2): Show a0001c0002t0001g0004 a0001c0002t0001g0078 a0001c0002t0001g0119 a0001c0002t0001g0133 a0002c0003t0001g0043	5	406	0.0123	46	c.-43 others(57): Show c.-4386_-4385insGGAAGGAAGGAAGGGGAGGAAAAAGGAAGGAGAA GGAAGGAAGGAA		GPRC5D	ENSG00000111291.9	transcript	ENST00000228887.6	protein_coding					4277		chr12	TogoVar
GPRC5D_chr12_12935575_12957170	12956446	T T	TTTCCTTC others(39): Show TTTCCTTCCTTCCTTCTCCTTCCTTTTTCCTCCTTTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG03130.hp1 others(5): Show HG02258.hp1 HG02717.hp1 HG03130.hp1 HG03486.hp2 HG04204.hp1 HG04228.hp2 NA19077.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0156 a0001c0001t0001g0198 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0156 a0001c0001t0001g0198 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0270 a0001c0001t0001g0352 a0001c0004t0001g0388	8	406	0.0197	46	c.-43 others(57): Show c.-4386_-4385insGGAAGGAAGGAAAAGGAGGAAAAAGGAAGGAGAA GGAAGGAAGGAA		GPRC5D	ENSG00000111291.9	transcript	ENST00000228887.6	protein_coding					4277		chr12	TogoVar
GPSM2_chr1_108871985_108939545	108908728	A A	AACACACA others(39): Show AACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02257.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0238 a0003c0003t0003g0243 a0003c0003t0003g0238 a0003c0003t0003g0243	2	260	0.0077	46	c.119 others(65): Show c.1192+4484_1192+4485insACACACACACACACACACACACACAC ACACACACACACACACACAC		GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46635058	A A	ACCACCCC others(39): Show ACCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01175.hp2 others(17): Show HG00140.hp1 HG00741.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02027.hp2 HG02300.hp1 HG02559.hp2 HG02683.hp2 HG03017.hp2 HG03491.hp1 HG03927.hp2 NA19007.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0220 a0001c0001t0003g0006 a0001c0001t0003g0205 others(17): Show a0001c0001t0001g0220 a0001c0001t0003g0006 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0248 a0001c0001t0018g0247 a0001c0001t0040g0246 a0001c0001t0041g0006	20	328	0.0610	46	c.163 others(63): Show c.163-2761_163-2760insCTGGGGAACCGTGTCCTCCCTGCCTCCA CCCCTGGCCACTCCTGTC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635066	T T	TGGCCACT others(39): Show TGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0169 a0001c0001t0003g0104 a0001c0001t0003g0169	2	328	0.0061	46	c.163 others(63): Show c.163-2761_163-2760insCTGGGGAACCGTGTCCTCCCTGCCTCCA CCCCCGGCCACTCCTGTC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635107	G G	GCCCCCGG others(39): Show GCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0213	1	328	0.0031	46	c.163 others(63): Show c.163-2728_163-2727insGGCCACTCCTGTCCTGGGAGGCCGTGTC CTCCCTGCCCCCACCCCC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635150	T T	TCCACCCC others(39): Show TCCACCCCCAGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0190 a0001c0001t0015g0190	1	328	0.0031	46	c.163 others(63): Show c.163-2683_163-2682insCAGCCACTCCTGTCCTGGGAGGCCCTAT CCTCCCTGCCCCCACCCC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635158	T T	TGGCCACT others(39): Show TGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19240.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0186 a0001c0001t0010g0187 a0001c0001t0010g0186 a0001c0001t0010g0187	2	328	0.0061	46	c.163 others(63): Show c.163-2662_163-2617dupAACCGTGTCCTCCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGG		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635158	T T	TGGCCACT others(39): Show TGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0185 a0001c0001t0010g0185	1	328	0.0031	46	c.163 others(63): Show c.163-2663_163-2662insGACCGTGTCCTCCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGG		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635159	G G	GGCCACTC others(39): Show GGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	328	0.0031	46	c.163 others(63): Show c.163-2669_163-2668insTTGGGGAGCCGTGTCCTCCCTGCCCCCG CCCCCAGCCACTCCTGTC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635187	C C	CTCCCTGC others(39): Show CTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0180 a0001c0001t0038g0180	1	328	0.0031	46	c.163 others(63): Show c.163-2642_163-2641insACCCCTGGCCACTCCTGTCCTGGGGGAC CGTGTCTTCCCTGCCCCC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635200	C C	CCCCCGGC others(39): Show CCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01952.hp1 others(5): Show HG01069.hp1 HG01071.hp2 HG01952.hp1 HG02129.hp2 HG02165.hp2 HG02698.hp1 NA19065.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 others(4): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0003g0250 a0001c0001t0023g0122 a0001c0001t0024g0004	8	328	0.0244	46	c.163 others(63): Show c.163-2617_163-2616insAACCGTGTCCTCCCTGCCCCCGACCCCG GCCACTCCTGTCCTGGGG		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635200	C C	CCCCCGGC others(39): Show CCCCCGGCCACTCCTGTCCTGGGGAACTGTGTCCTCCCTGCCCCCGA	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	328	0.0031	46	c.163 others(63): Show c.163-2617_163-2616insAACTGTGTCCTCCCTGCCCCCGACCCCG GCCACTCCTGTCCTGGGG		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635204	C C	CGGCCACT others(39): Show CGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCACCCCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	328	0.0031	46	c.163 others(63): Show c.163-2595_163-2550dupACCCCTGGCCACTCCTGTCCTGGGGGAC CGTGTCCTCCCTGCCCCC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635230	G G	GTCCTCCC others(39): Show GTCCTCCCTGCCCCCGCCCCCGGCCACCCCTGTCCTGGGAGGCTGTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02818.hp1 others(3): Show HG02723.hp1 HG02809.hp1 HG02818.hp1 HG03225.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 others(3): Show a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0015	6	328	0.0183	46	c.163 others(63): Show c.163-2596_163-2595insGCCCCCGGCCACCCCTGTCCTGGGAGGC TGTATCCTCCCTGCCCCC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635250	T T	TGGCCACT others(39): Show TGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18995.hp1 HG02896.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0317 a0001c0001t0005g0039 a0001c0001t0002g0317 a0001c0001t0005g0039	2	328	0.0061	46	c.163 others(63): Show c.163-2571_163-2570insAACCGTGTCCTCCCTGCCTCCACCCCCG GCCACTCCTGTCCTGGGG		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635292	C C	CCCCCGGC others(39): Show CCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18962.hp2 NA19002.hp1 others(1): Show NA18955.hp1 NA18962.hp2 NA19002.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0177 a0001c0001t0002g0100 a0001c0001t0002g0175 others(1): Show a0001c0001t0001g0177 a0001c0001t0002g0100 a0001c0001t0002g0175 a0001c0001t0022g0176	4	328	0.0122	46	c.163 others(63): Show c.163-2525_163-2524insAACCGTGTCCTCCCTGCCCCCGACCCCG GCCACTCCTGTCCTGGGG		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635316	G G	GACCGTGT others(39): Show GACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0180 a0001c0001t0038g0180	1	328	0.0031	46	c.163 others(63): Show c.163-2516_163-2515insTTCCCTGCCCCCGACCCCGGCCACTCCT GTCCTGGGGAACCGTGTC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635368	G G	GTCCTCCC others(39): Show GTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCCTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0090 a0001c0002t0004g0090	1	328	0.0031	46	c.163 others(63): Show c.163-2470_163-2469insCTCCCTGCCCCCGCCCCCGGCCACTCCT GTCCTGGGAGGCCCTATC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635388	C C	CGGCCACT others(39): Show CGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCCCACCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0038 a0001c0001t0027g0038	1	328	0.0031	46	c.163 others(63): Show c.163-2434_163-2433insAGGCCGTATCCTCCCTGCCCCCACCCCT GGCCACTCCTGTCCTGGG		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635388	C C	CGGCCACT others(39): Show CGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCACCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp2 HG01884.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0010 a0001c0001t0020	a0001c0001t0010g0185 a0001c0001t0020g0232 a0001c0001t0010g0185 a0001c0001t0020g0232	2	328	0.0061	46	c.163 others(63): Show c.163-2424_163-2423insCTCCCTGCCCCCACCCCTGGCCACTCCT GTCCTGGGGGACCGTGTC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635414	G G	GTCCTCCC others(39): Show GTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0044 a0001c0001t0030g0044	1	328	0.0031	46	c.163 others(63): Show c.163-2424_163-2423insCTCCCTGCCCCCACCCCTGGCCACTCCT GTCCTGGGAGGCCCTATC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635429	G G	GACCCCGG others(39): Show GACCCCGGCCACTCCTGTCCTGGGGAACCATGTCCTCCCTGCCCCCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0089 a0001c0002t0046g0089	1	328	0.0031	46	c.163 others(63): Show c.163-2411_163-2410insACCCCGGCCACTCCTGTCCTGGGGAACC ATGTCCTCCCTGCCCCCA		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18						chr22	TogoVar

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Search Results (Total: 3221 hits)