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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
H2BC14_chr6_27810022_27820489	27815035	TTTTCCAC others(12): Show TTTTCCACCATGCCTGAACC	T T	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	380	0.0026	-19	c.-8_ others(24): Show c.-8_11delTTTCCACCATGCCTGAACC	p.Met others(3): Show p.Met1fs	H2BC14	ENSG00000273703.2	transcript	ENST00000621112.2	protein_coding	1/1	15/468	1/381	1/126		chr6	TogoVar
H2BC18_chr1_149806879_149817370	149811957	TGTACTTG others(5406): Show TGTACTTGGTGACCGCCTTGGTGCCCTCGGACACGGCGTGCTTGGCCAGC TCGCCGGGCAGCAGCAGGCGCACGGCCGTCTGGATCTCGCGGGATGTGAT GGTGGAGCGCTTGTTGTAGTGCGCCAGGCGGGACGCCTCTCCCGCGATGC GCTCGAAGATGTCGTTGACGAAGGAGTTCATGATGCCCATGGCCTTGGAC GAGATGCCGGTGTCGGGGTGGACCTGCTTCAGCACCTTGTACACGTAAAC GGAGTAGCTCTCCTTGCGGCTGCGCTTGCGCTTCTTGCCGTCCTTCTTCT GCACTTTCGTAACAGCCTTTTTGGAGCCCTTCTTGGGAGCAGGAGCGGAT TTCGCTGGATCCGGCATTTTTGCGCGAAAAAAGAGAAAAGAGACTTAAAG AAGTAATCCGAACTACCGCAAAACGGGCTGGTTATGCGCTACTTATAGAG CCCGTATGCAAATGAAGACTCGCAAAGTGCTGCGCTTTCATTGGTTAACT TACAACGGTGTCGTCAGAGGGGGTGGAGTCTATGTAAATAATAGATTCTA GTCTTGCTTCCTTAATGGTCACTGTAACAAAAGTCTTGTTATCCTATCAG AATGGTCCATTTCACACTAACCAGTTTTAAGCTAGGTGAAGCGATAGTTT CTACGGCTTGGGGTTTTTTCTTGGTTTTCACTTTCCATTAGACTTGCATA CGGAAGAAATCTTAACGCCAGCTAGACAAGTTAACTCTCTTGCCTCGTTT TTGCATTTTTATTCTATACTTTGTGGAAATTTTTTTCTCTTCCTTGAAAT ACTACCTCACCCATTTTTAAAAATCGCCAGATATTTACTCCCGCCCGCTT AAATTACTATTCTGGCTTGGACACCGCCTGTAGTATGCAATGAGGAAGAT GCTGAGCTTTAATTAAGCTTATAGTTCCTAAATAAACCAGGAAACGGGTT TATAATTTTTAAGGGACTCGCCCCACCCTTACACTCAGGATCTTCCACAT CTAGAAACTCCCCATAGTCTCTTGCCCCCATGCAAAACTTTACCCACAGA ATTGGGAGCCGGACCTCTAGCCTTAAACCAGCGTGAAAACGCTCGGCCGG AACCACAAGGACCATGCCTCTGCGGCTTTCTCTACTGCCGGCCAACTCAC GGCTGGGCTTTGGGTTCTGTAACGTCACCCACCACGAGTGCCCCTGGCCC CTGACCGCTGCGCAAGGCAGACGCACATCAGATGGAGAGCCGGTACAGCT GCTCTTGATGAAAACGGCAGTGGCTCTGAAAAGAGCCTTTAGATCGACCA CTTAAAAATATGCCTTAGGCCCGCTCCCCGCGGATGCGGCGGGCCAACTG GATGTCCTTGGGCATGATGGTCACGCGCTTGGCATGGATGGCGCACAGGT TCGTGTCTTCGAACAGCCCCACCAGGTAGGCCTCGCTGGCCTCCTGCAGC GCCATCACGGCCGAGCTCTGGAAGCGCAGGTCCGTCTTAAAGTCCTGCGC GATCTCGCGTACCAGCCGCTGGAAGGGCAGCTTGCGGATCAGCAGCTCCG TAGACTTCTGGTAGCGCCGGATCTCCCGCAGAGCCACGGTGCCGGGCCGG TAGCGGTGCGGCTTCTTCACCCCGCCCGTGGCCGGCGCGCTCTTGCGGGC CGCTTTGGTAGCCAGCTGCTTCCTCGGGGCCTTGCCGCCGGTCGACTTGC GGGCAGTCTGCTTAGTACGGGCCATGCTGTCTCATTGATAGGAGAGGGTC TAGGCAGTCATATTTATAGACATAGTCTCCTCTTGATTGGGCCTGAAAAG GAAATTTTCAAACTTGTGATCTCATTGGTTAAAATTCAATCCTCTTTACT GGGGCGGAAGATTGTTCTGCTAATCTTTCTTCCCTTATTATTTCCCCCTT TCCTGATTTTTTTCTGTAATTTTATCGATCACGGATTGTTTTTGAAGACT TTCCTTTAAATTAGTCTAACTTTTGTAAAAGCAATGTATAAAGTGTTTTG CATCCCATTTTAACAGAGATTTTTTTTTTCCCCGAATTCAAGCATGCCCT TCTATGAGCTATCAGCCTGTTTCAGGTTACCTGTTACTGTAGCTCTTCTA CCATAGCTAACATTTATTTCATGTCTGGCATTTTGCTCAGCAAGTTAGAT GCATTGTATACCATGAATGACCGAAGCTTAGCAAAAAAATATGTAATTGA AGGAATGAAAAAATTGATCTTATTTACTTGACCTTGGAACCCAGCCAAAG CCATTTCATGTGGGTAGTGTGCTGACCTATATTGACCTGATATTAGAGCC TCTGCCTTCCTTTAGTCTTTTCTCCCTGCGATGTGGTTCCTTCTTCCTCA ACCTCACATCAATGGCCAATTAGGTCCTGCAGATGTTAAGCTTCTAAATC AAAGAAGGACAACACCAGAAATTCATTTCTCCTTTACAATGTAGAATAGT TTGTAAATTAGTGCTTATTAGCCAGATTACAAGTTCAAGTTTCAAAGCAA ATTATTCATCAATTGCTGACTTGCTAACATTTTATTCAATAAAGTATTTT ATAATGCTTAAAAGTTTAGTTTTTTTTCTGTTCTCTATGAAGAGAGTAAA GATGCTTTGCTTTTTCAATTTCATGTGCTTTGAAGTATGTATTGTTCAGA ACAGTAAATATCATAGTGGTTATGTAGAAGCAACTGATACTTAAAAGTTG TAGTAGTTAATATAAAACTTTTAATCATATCCTTATTTTACTAAAAAAAT CATTACAAACTATAAAAACTCAAACCTGAGAAAAGCAGGCCCGAAACGCT TAAAACTTACTTTGATGGTGTCATTATGAACTATCTTCCTACTGAAGTCA AAGTAAAGTAAAAGTGATTTCAAGGGGACTTCCTGAACACTAAACACAAA GTAGAAATCTGTGAGCTTAATTAATATCTTCAAGAGTCTCTCATGGGCAG AAGCATCCTCCTCTCGAGAGATCTAAAATGTACAAAAGTGTAACTGATGT GAACAAATGTTATCCCTCTCTGTGGTAGTTTTGTAATAATGCCTTACAGA CAGCAGGCACTACTCAGTGTTTAAAGTTCTTCTACATACACTTTATCATT TAATCCCTACTCTGTGAAATAGATGTTACTCTTCTCACTTTACAGATAAG AAAACTGAGTCTCAGAGAAATTATGGCTTGTCCTGGGTAAGTAACAAAGC CTGTGTAATATTCTAAAGCAAAAGAATGAAACTGTAATGATGAAACTTTC TATTTCATTAGGCTTAGAGGATACCTTTTTTTTTTTTTTTTCATTTGAGA TGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTAGGATCTCTGC TCACTGCAGCCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGTCTCAGCCT CCTGAGCAGCTGGGACTATAGGCGCAAGCCACCACCCCCAGCTAATTTAT TTATTTATTTGTATTTTTAGTAGAGACACGGTTTCACCATATTGGTCAGG CTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAA AGTGCTTGGGTTGCAGGCATGAGCCCCACGCACCCAGCCAACACAGTTTA AAGCACAAAAGCGTTTTCCCATCAAGCAATCACATCATCTAGTATTTCTC AAACATCTACACCCAACTATTCCCATTAGAAGGGAAAACTACCCCATGGA ATCTGGATGATAGCCCAAAGCAGCCCACCCAAGCATCACATTTCTTTGCA ATATACTTTCTCTATGATGTATGCAGTCTTGACCATAATGTAGGATGTGT TCATTTAAATAAGAAAATGGCATTCAATCAGACTTTAATGGCTATAGGTA TCATTTCTCAGAATAAAACAATCAGATGTATAGTTGCCTTAAAAGTCATC TTTAATAACAGAATTCAGATCAATTGTTAGTTCAATTTCACCTAGTCCCC ACATTGGACACTAGAGTGACATTTCTGTGAAAGGTCTCAATCCACCACTA TATCAGAAGCAACTTTATGGTGCAAAAGAAGCTCTGCTTTTCTTCAGTTG TAACAAAGACGGAATATTCCTCCTAAAATTTTTGAAGTGTCCTTCAGCAG AAATTATAAGGCTGTGCAGCTTGAATACTGAGAACAGAAATTTCATTAGG TAGCACGGGGGAATAGACAAGAGAAGATTAAAATTTACCTAACAAGAAAT AAGAAGGCAAAAGAAAATATTAATAAATGAATTATTACGCACATAATGTT TTGTATGTACATGTGTTTACTTTTAATACAAAAGTAACGGACTAAGTTAA CATAGATGTTCCAATAAGATAATTTATGTTTCATTTTTGGCTTCAAGTAT CCTCAGGGTTATAAGTATCATAAGCTGAGACCAGCTGAATTGGTTTGTGG GTTGATGAGGCCCTATGCCTGATTTGAATTTCTCTTGAATGGTCTGCAGC CCTGGACCAAGTTGAAGAAGCCATGAGAGTCTCAGCTTTTTTCCTTACCC CATTATGAGATAAACTCATTCCTTAAATATCTTGCTCATTTGATAAAACT TGGCACCTTTCTCCTTTCTACTGGTCCCTAATACTTACTACCTGTACTGT AAGCTCAAATTTTTTGCAATTTCTGCCTTTATTATGTAACGTATTCCACT GGAATATGTGTTACAGGAAAGGGGTCCCGATCCAGACCCCTAGAGAGGGT TCTTGGATATCCAGCAAGAAGGAATTCAGGGCCAGTCCATAAAGTGAAAA CAAGTTTACTAGGAAAGTAGAGGAATAAAAGAATGGCTACTCCATAGAGA GAACAGCCCTGAGGGCTGCTGGTTGCCCATTTTTATGGTTATTTCTTGAT TATATGTTAAACAGGGGTGGGGGGGTGGACCACGCCTATAATCCCAGCTA CTCCAGAGGCTGAGACAAGATCATTTGAACCCCGGAGGCAGAGGTTGCAG TAAGCTGACATCGCTCCACTGCACTCCAGCCTGGACCACCCAGGGATAAT CCGTCCCCCGCACCCCGCCCCCCCAAAAAAATCACTGCCAGTAAGGAACA AACAGCCAGGACGAAGTACTAAGATGTAAAGAGATGTAAAATAGCCCGGG CGCGGTGGCTCACGCCTGTAATCCCAGCTCTTTGGGAGGCCTAGGCGGGC AGATCACGAGGTCAGAAGATAGAGACGATCCTGGCTAACACGGTGAAACC CCGTCTCCACTGAAAATATTTTTTTAAAAAAAATTAGCCAGGCGTGGTGG AGGGCGCCTGTAGTCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATGGCA TTAACCTGGGAGGCGGAGCTTCAAGTGAACCCAGATCGCGCCACGGCACT CCAGCCTGGGTGACAGTACGAGACTGTGCCTCCAAAAAAAAAAAAAAAAA AAGAAAGATGTAAA	T T	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18944.hp1 NA18944.hp1	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0005 a0000c0003t0005	a0000c0003t0005g0000 a0000c0003t0005g0000	1	364	0.0028	-5413	c.-50 others(9): Show c.-5047_366del	p.Met others(3): Show p.Met1fs	H2BC18	ENSG00000203814.7	transcript	ENST00000369167.3	protein_coding	1/1	413/492	1/381	1/126		chr1	TogoVar
H2BN1_chr17_32890433_32911586	32895549	GAGAAAGA others(9): Show GAGAAAGAAGAGGAGGA	G G	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	426	0.0024	-16	c.120 others(23): Show c.120_135delAAAGAAGAGGAGGAAG	p.Lys others(4): Show p.Lys42fs	H2BN1	ENSG00000290320.1	transcript	ENST00000704639.1	protein_coding	1/2	120/570	120/357	40/118	INFO_REALIGN_3_PRIME	chr17	TogoVar
H2BN1_chr17_32890433_32911586	32895587	T T	TCAACCCC others(63): Show TCAACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTAAC TACCCACTCCCCCCCCCCCCC	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	426	0.0024	70	c.155 others(77): Show c.155_156insCAACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCTAACTACCCACTCCCCCCCCCCCCC	p.Met others(4): Show p.Met52fs	H2BN1	ENSG00000290320.1	transcript	ENST00000704639.1	protein_coding	1/2	156/570	156/357	52/118		chr17	TogoVar
H2BW1_chrX_104006147_104018708	104013216	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19054.hp1 NA19054.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0010 a0007c0007t0010	a0007c0007t0010g0024 a0007c0007t0010g0024	1	330	0.0030	1	c.360 others(4): Show c.360dupG	p.Gln others(5): Show p.Gln121fs	H2BW1	ENSG00000123569.10	transcript	ENST00000217926.7	protein_coding	1/3	492/915	360/444	120/147		chrX	TogoVar
H2BW1_chrX_104006147_104018708	104013359	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19078.hp2 NA19078.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0022 a0006c0004t0002g0022	1	330	0.0030	-1	c.217 others(4): Show c.217delG	p.Glu others(4): Show p.Glu73fs	H2BW1	ENSG00000123569.10	transcript	ENST00000217926.7	protein_coding	1/3	349/915	217/444	73/147		chrX	TogoVar
H2BW1_chrX_104006147_104018708	104013425	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19054.hp1 NA19054.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0010 a0007c0007t0010	a0007c0007t0010g0024 a0007c0007t0010g0024	1	330	0.0030	1	c.151 others(4): Show c.151dupG	p.Asp others(4): Show p.Asp51fs	H2BW1	ENSG00000123569.10	transcript	ENST00000217926.7	protein_coding	1/3	283/915	151/444	51/147		chrX	TogoVar
H2BW2_chrX_104034956_104047454	104040319	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0003 a0000c0005t0003	a0000c0005t0003g0007 a0000c0005t0003g0007	1	332	0.0030	1	c.328 others(4): Show c.328dupG	p.Asp others(5): Show p.Asp110fs	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding	1/4	368/870	329/447	110/148	INFO_REALIGN_3_PRIME	chrX	TogoVar
H2BW2_chrX_104034956_104047454	104040847	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0003 a0000c0005t0003	a0000c0005t0003g0007 a0000c0005t0003g0007	1	332	0.0030	1	c.432 others(4): Show c.432dupG	p.Gln others(5): Show p.Gln145fs	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding	2/4	472/870	433/447	145/148	INFO_REALIGN_3_PRIME	chrX	TogoVar
H3Y2_chr5_17485967_17497076	17491522	GGTCCGGG others(19): Show GGTCCGGGCTGATGGCCTGGGCGATCT	G G	frameshift_variant frameshift_variant	HIGH	NA18983.hp1 NA18983.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0000 a0004c0009t0001g0000	1	400	0.0025	-26	c.221 others(33): Show c.221_246delAGATCGCCCAGGCCATCAGCCCGGAC	p.Glu others(4): Show p.Glu74fs	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding	1/1	554/1110	221/444	74/147		chr5	TogoVar
H6PD_chr1_9229774_9276337	9244919	CCCCAGGC others(1): Show CCCCAGGCA	C C	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show HG00140.hp2 HG00642.hp1 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02165.hp1 HG02258.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18962.hp2 NA18973.hp2 NA18979.hp2 NA19012.hp1 NA19079.hp2 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0023	a0001c0001 a0001c0004 a0001c0020 others(4): Show a0001c0001 a0001c0004 a0001c0020 a0002c0005 a0002c0006 a0017c0049 a0023c0041	a0001c0001t0008 a0001c0001t0022 a0001c0004t0005 others(11): Show a0001c0001t0008 a0001c0001t0022 a0001c0004t0005 a0001c0004t0044 a0001c0004t0088 a0001c0004t0089 a0001c0004t0090 a0001c0020t0085 a0002c0005t0008 a0002c0005t0022 a0002c0005t0087 a0002c0006t0005 a0017c0049t0086 a0023c0041t0008	a0001c0001t0008g0002 a0001c0001t0008g0049 a0001c0001t0008g0253 others(28): Show a0001c0001t0008g0002 a0001c0001t0008g0049 a0001c0001t0008g0253 a0001c0001t0008g0258 a0001c0001t0008g0265 a0001c0001t0008g0266 a0001c0001t0022g0125 a0001c0001t0022g0262 a0001c0004t0005g0002 a0001c0004t0005g0023 a0001c0004t0005g0048 a0001c0004t0005g0256 a0001c0004t0005g0257 a0001c0004t0005g0263 a0001c0004t0005g0264 a0001c0004t0005g0269 a0001c0004t0005g0270 a0001c0004t0044g0023 a0001c0004t0088g0261 a0001c0004t0089g0259 a0001c0004t0090g0002 a0001c0020t0085g0002 a0002c0005t0008g0002 a0002c0005t0008g0267 a0002c0005t0008g0268 a0002c0005t0008g0271 a0002c0005t0022g0255 a0002c0005t0087g0002 a0002c0006t0005g0048 a0017c0049t0086g0254 a0023c0041t0008g0260	40	404	0.0990	-8	c.-7_ others(12): Show c.-7_1delCCCAGGCA	p.Met others(3): Show p.Met1fs	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	2/5	297/9147	1/2376	1/791	INFO_REALIGN_3_PRIME	chr1	TogoVar
HAGH_chr16_1802629_1831825	1817170	TGTCCGGG others(18): Show TGTCCGGGGGGAGCCGGCCCAAGACC	T T	frameshift_variant frameshift_variant	HIGH	NA18968.hp2 NA18968.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0005 a0007c0013t0005	a0007c0013t0005g0300 a0007c0013t0005g0300	1	436	0.0023	-25	c.618 others(32): Show c.618_642delGGTCTTGGGCCGGCTCCCCCCGGAC	p.Val others(5): Show p.Val207fs	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	6/9	680/2619	618/927	206/308		chr16	TogoVar
HAGH_chr16_1802629_1831825	1817242	T T	TTTTTTCA others(9): Show TTTTTTCACGAACTTTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19082.hp1 NA19082.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0003 a0010c0012t0003	a0010c0012t0003g0110 a0010c0012t0003g0110	1	436	0.0023	16	c.570 others(23): Show c.570_571insGAAAGTTCGTGAAAAA	p.Lys others(5): Show p.Lys191fs	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	6/9	608/2619	570/927	190/308		chr16	TogoVar
HAO2_chr1_119363785_119399130	119386675	GAATGATC others(3): Show GAATGATCTCT	G G	frameshift_variant frameshift_variant	HIGH	NA18991.hp2 NA18991.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0258 a0006c0009t0001g0258	1	428	0.0023	-10	c.616 others(17): Show c.616_625delAATGATCTCT	p.Asn others(5): Show p.Asn206fs	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/8	742/1472	616/1056	206/351		chr1	TogoVar
HAUS1_chr18_46099385_46133333	46105246	AGGTGAAC others(54): Show AGGTGAACCCACGGACCACAGAGATTTTACATCACCTTTCAGAACGCAAC AGGGTCCGGGAC	A A	frameshift_variant frameshift_variant	HIGH	NA18951.hp1 NA18951.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0144 a0007c0010t0001g0144	1	372	0.0027	-61	c.84_ others(67): Show c.84_144delGGTGAACCCACGGACCACAGAGATTTTACATCACCTTTC AGAACGCAACAGGGTCCGGGAC	p.Val others(4): Show p.Val29fs	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/9	111/1072	84/837	28/278		chr18	TogoVar
HAUS7_chrX_153442668_153475576	153447905	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG01515.hp1 HG01515.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0003 a0008c0008t0003	a0008c0008t0003g0040 a0008c0008t0003g0040	1	321	0.0031	1	c.104 others(10): Show c.1049_1050insA	p.Lys others(5): Show p.Lys351fs	HAUS7	ENSG00000213397.12	transcript	ENST00000370211.10	protein_coding	10/10	1068/1306	1049/1077	350/358		chrX	TogoVar
HAUS7_chrX_153442668_153475576	153469186	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0168 a0005c0013t0001g0168	1	321	0.0031	-1	c.183 others(4): Show c.183delC	p.Ser others(4): Show p.Ser62fs	HAUS7	ENSG00000213397.12	transcript	ENST00000370211.10	protein_coding	2/10	202/1306	183/1077	61/358		chrX	TogoVar
HAUS7_chrX_153442668_153475576	153470478	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0178 a0010c0014t0001g0178	1	321	0.0031	1	c.79d others(3): Show c.79dupG	p.Ala others(4): Show p.Ala27fs	HAUS7	ENSG00000213397.12	transcript	ENST00000370211.10	protein_coding	1/10	98/1306	79/1077	27/358		chrX	TogoVar
HAUS7_chrX_153442668_153475576	153470486	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19001.hp1 NA19001.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0179 a0011c0015t0001g0179	1	321	0.0031	1	c.71d others(3): Show c.71dupT	p.Ser others(4): Show p.Ser25fs	HAUS7	ENSG00000213397.12	transcript	ENST00000370211.10	protein_coding	1/10	90/1306	71/1077	24/358		chrX	TogoVar
HCAR1_chr12_122721076_122735844	122729888	AAAAGATA others(9): Show AAAAGATACACTGTTCC	A A	frameshift_variant frameshift_variant	HIGH	NA19011.hp1 NA19011.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0004 a0006c0009t0004	a0006c0009t0004g0000 a0006c0009t0004g0000	1	436	0.0023	-16	c.436 others(23): Show c.436_451delGGAACAGTGTATCTTT	p.Gly others(5): Show p.Gly146fs	HCAR1	ENSG00000196917.6	transcript	ENST00000432564.3	protein_coding	1/1	956/4769	436/1041	146/346		chr12	TogoVar
HCAR2_chr12_122696293_122708357	122702193	TAAGGA TAAGGA	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00597.hp1 HG00609.hp1 NA18747.hp1 others(2): Show HG00597.hp1 HG00609.hp1 NA18747.hp1 NA18979.hp2 NA18987.hp2	a0000 a0000	a0000c0004 a0000c0006 a0000c0004 a0000c0006	a0000c0004t0006 a0000c0006t0006 a0000c0004t0006 a0000c0006t0006	a0000c0004t0006g0000 a0000c0006t0006g0000 a0000c0004t0006g0000 a0000c0006t0006g0000	5	428	0.0117	-5	c.108 others(14): Show c.1086_1090delTCCTT	p.Pro others(5): Show p.Pro363fs	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding	1/1	1164/2065	1086/1092	362/363		chr12	TogoVar
HCAR3_chr12_122709756_122721811	122716231	GATCAGCA others(30): Show GATCAGCAACTTCTTCTTCAGGAGGTGGACTGTTAGGC	G G	frameshift_variant frameshift_variant	HIGH	HG02622.hp2 HG02622.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0000 a0009c0014t0002g0000	1	424	0.0024	-37	c.470 others(44): Show c.470_506delGCCTAACAGTCCACCTCCTGAAGAAGAAGTTGCTGAT	p.Gly others(5): Show p.Gly157fs	HCAR3	ENSG00000255398.3	transcript	ENST00000528880.3	protein_coding	1/1	580/2056	470/1164	157/387		chr12	TogoVar
HCFC1_chrX_153942557_153976818	153954183	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG02486.hp1 NA18948.hp1 HG02486.hp1 NA18948.hp1	a0005 a0005	a0005c0017 a0005c0026 a0005c0017 a0005c0026	a0005c0017t0004 a0005c0026t0002 a0005c0017t0004 a0005c0026t0002	a0005c0017t0004g0108 a0005c0026t0002g0078 a0005c0017t0004g0108 a0005c0026t0002g0078	2	268	0.0075	1	c.421 others(5): Show c.4215dupC	p.Ala others(6): Show p.Ala1406fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	17/26	5193/8876	4215/6108	1405/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153955119	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG03516.hp1 HG03516.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0121 a0011c0022t0001g0121	1	268	0.0037	1	c.327 others(5): Show c.3279dupC	p.Ala others(6): Show p.Ala1094fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	17/26	4257/8876	3279/6108	1093/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153955532	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18941.hp1 NA18941.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0065 a0013c0016t0001g0065	1	268	0.0037	-1	c.286 others(5): Show c.2866delC	p.Gln others(5): Show p.Gln956fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	17/26	3844/8876	2866/6108	956/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153956350	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0064 a0012c0025t0001g0064	1	268	0.0037	1	c.269 others(5): Show c.2696dupG	p.His others(5): Show p.His900fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	16/26	3674/8876	2696/6108	899/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153958093	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA18960.hp1 NA18960.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0002 a0014c0015t0002	a0014c0015t0002g0094 a0014c0015t0002g0094	1	268	0.0037	-1	c.195 others(5): Show c.1959delT	p.Val others(5): Show p.Val654fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	11/26	2937/8876	1959/6108	653/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153958723	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18941.hp1 NA18941.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0065 a0013c0016t0001g0065	1	268	0.0037	-1	c.164 others(5): Show c.1648delG	p.Ala others(5): Show p.Ala550fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	10/26	2626/8876	1648/6108	550/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153961621	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18960.hp1 NA18960.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0002 a0014c0015t0002	a0014c0015t0002g0094 a0014c0015t0002g0094	1	268	0.0037	1	c.824 others(4): Show c.824dupC	p.Leu others(5): Show p.Leu276fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	6/26	1802/8876	824/6108	275/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153962270	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG02027.hp1 HG02071.hp1 HG02572.hp1 others(5): Show HG02027.hp1 HG02071.hp1 HG02572.hp1 HG03516.hp2 NA18977.hp1 NA18989.hp1 NA19000.hp1 NA19086.hp1	a0003 a0003	a0003c0007 a0003c0011 a0003c0014 a0003c0007 a0003c0011 a0003c0014	a0003c0007t0001 a0003c0011t0002 a0003c0011t0008 others(1): Show a0003c0007t0001 a0003c0011t0002 a0003c0011t0008 a0003c0014t0004	a0003c0007t0001g0016 a0003c0007t0001g0043 a0003c0007t0001g0048 others(4): Show a0003c0007t0001g0016 a0003c0007t0001g0043 a0003c0007t0001g0048 a0003c0007t0001g0103 a0003c0011t0002g0072 a0003c0011t0008g0127 a0003c0014t0004g0107	8	268	0.0299	1	c.748 others(4): Show c.748dupG	p.Val others(5): Show p.Val250fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	5/26	1726/8876	748/6108	250/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153963383	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0002 a0015c0013t0002	a0015c0013t0002g0093 a0015c0013t0002g0093	1	268	0.0037	-1	c.553 others(4): Show c.553delG	p.Val others(5): Show p.Val185fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	4/26	1531/8876	553/6108	185/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153964165	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0002 a0015c0013t0002	a0015c0013t0002g0093 a0015c0013t0002g0093	1	268	0.0037	1	c.461 others(4): Show c.461dupG	p.Leu others(5): Show p.Leu155fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	3/26	1439/8876	461/6108	154/2035		chrX	TogoVar
HCFC1_chrX_153942557_153976818	153964175	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0002 a0015c0013t0002	a0015c0013t0002g0093 a0015c0013t0002g0093	1	268	0.0037	1	c.451 others(4): Show c.451dupC	p.Leu others(5): Show p.Leu151fs	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding	3/26	1429/8876	451/6108	151/2035		chrX	TogoVar
HDAC6_chrX_48797067_48829976	48817452	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0011 a0011	a0011c0006 a0011c0006	a0011c0006t0001 a0011c0006t0001	a0011c0006t0001g0058 a0011c0006t0001g0058	1	269	0.0037	1	c.192 others(5): Show c.1921dupC	p.Leu others(5): Show p.Leu641fs	HDAC6	ENSG00000094631.22	transcript	ENST00000334136.11	protein_coding	20/29	2028/4118	1922/3648	641/1215	INFO_REALIGN_3_PRIME	chrX	TogoVar
HDAC6_chrX_48797067_48829976	48820151	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG01168.hp1 HG01168.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0096 a0010c0007t0001g0096	1	269	0.0037	-1	c.223 others(5): Show c.2239delG	p.Asp others(5): Show p.Asp747fs	HDAC6	ENSG00000094631.22	transcript	ENST00000334136.11	protein_coding	23/29	2345/4118	2239/3648	747/1215	INFO_REALIGN_3_PRIME	chrX	TogoVar
HDAC6_chrX_48797067_48829976	48822706	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0077 a0006c0008t0001g0077	1	269	0.0037	-1	c.242 others(5): Show c.2426delC	p.Pro others(5): Show p.Pro809fs	HDAC6	ENSG00000094631.22	transcript	ENST00000334136.11	protein_coding	24/29	2532/4118	2426/3648	809/1215	INFO_REALIGN_3_PRIME	chrX	TogoVar
HDGFL2_chr19_4467297_4507207	4494341	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG02572.hp2 HG02615.hp1 others(4): Show HG00738.hp2 HG02572.hp2 HG02615.hp1 HG04184.hp2 NA18959.hp1 NA18980.hp1 NA19084.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0002 a0003c0004t0005 a0003c0006t0001 others(1): Show a0003c0004t0002 a0003c0004t0005 a0003c0006t0001 a0003c0006t0003	a0003c0004t0002g0257 a0003c0004t0002g0274 a0003c0004t0002g0346 others(4): Show a0003c0004t0002g0257 a0003c0004t0002g0274 a0003c0004t0002g0346 a0003c0004t0005g0150 a0003c0006t0001g0002 a0003c0006t0001g0199 a0003c0006t0003g0035	7	358	0.0196	1	c.109 others(5): Show c.1094dupG	p.Ser others(5): Show p.Ser366fs	HDGFL2	ENSG00000167674.15	transcript	ENST00000616600.5	protein_coding	9/16	1149/2267	1095/2016	365/671	INFO_REALIGN_3_PRIME	chr19	TogoVar
HDX_chrX_84312878_84507453	84344430	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA18967.hp1 NA18967.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0117 a0006c0011t0001g0117	1	269	0.0037	-1	c.147 others(5): Show c.1479delA	p.Lys others(5): Show p.Lys493fs	HDX	ENSG00000165259.14	transcript	ENST00000373177.3	protein_coding	7/11	1700/6305	1479/2073	493/690		chrX	TogoVar
HECTD4_chr12_112155195_112387431	112185241	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01175.hp1 HG01433.hp1 HG01934.hp1 others(19): Show HG01175.hp1 HG01433.hp1 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02738.hp1 HG02809.hp2 HG03516.hp1 HG03654.hp1 NA18947.hp2 NA18950.hp2 NA18980.hp2 NA18989.hp1 NA18994.hp1 NA19000.hp1 NA19030.hp1 NA19067.hp1 NA19068.hp2 NA19080.hp1 NA19091.hp2	a0002 a0008 a0002 a0008	a0002c0004 a0002c0005 a0002c0006 others(2): Show a0002c0004 a0002c0005 a0002c0006 a0002c0026 a0008c0017	a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 others(6): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0005t0001 a0002c0006t0002 a0002c0026t0001 a0008c0017t0001	a0002c0004t0001g0155 a0002c0004t0003g0008 a0002c0004t0003g0015 others(19): Show a0002c0004t0001g0155 a0002c0004t0003g0008 a0002c0004t0003g0015 a0002c0004t0003g0039 a0002c0004t0003g0052 a0002c0004t0004g0063 a0002c0004t0005g0048 a0002c0004t0005g0057 a0002c0004t0007g0036 a0002c0005t0001g0165 a0002c0005t0001g0170 a0002c0005t0001g0197 a0002c0005t0001g0199 a0002c0005t0001g0231 a0002c0005t0001g0239 a0002c0005t0001g0246 a0002c0006t0002g0089 a0002c0006t0002g0094 a0002c0006t0002g0097 a0002c0006t0002g0126 a0002c0026t0001g0215 a0008c0017t0001g0190	22	270	0.0815	1	c.972 others(5): Show c.9724dupG	p.Ala others(6): Show p.Ala3242fs	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	61/76	10027/15752	9724/13257	3242/4418		chr12	TogoVar
HEPH_chrX_66159247_66272389	66256327	C C	CT CT	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19067.hp1 NA19067.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0104 a0007c0012t0001g0104	1	218	0.0046	1	c.289 others(10): Show c.2893_2894insT	p.His others(5): Show p.His965fs	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	17/21	3131/4431	2894/3477	965/1158		chrX	TogoVar
HES4_chr1_993964_1005097	999082	GCCCACCC others(12): Show GCCCACCCGGGCCCTGCGGC	G G	frameshift_variant frameshift_variant	HIGH	HG02080.hp1 HG02080.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0015 a0000c0005t0001g0015	1	396	0.0025	-19	c.624 others(26): Show c.624_642delGCCGCAGGGCCCGGGTGGG	p.Gln others(5): Show p.Gln210fs	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding	4/4	766/885	624/666	208/221		chr1	TogoVar
HGFAC_chr4_3436968_3454486	3444041	GCCCTGGA others(9): Show GCCCTGGATCCCTGTGC	G G	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG00738.hp2	a0027 a0027	a0027c0042 a0027c0042	a0027c0042t0001 a0027c0042t0001	a0027c0042t0001g0111 a0027c0042t0001g0111	1	454	0.0022	-16	c.480 others(23): Show c.480_495delCCTGGATCCCTGTGCC	p.Leu others(5): Show p.Leu161fs	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding	5/14	514/2069	480/1968	160/655	INFO_REALIGN_3_PRIME	chr4	TogoVar
HGH1_chr8_144132774_144145851	144138200	A A	ATTTATTT others(12): Show ATTTATTTCTTGTACTTTTT	frameshift_variant frameshift_variant	HIGH	NA18971.hp1 NA18971.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0001 a0005c0012t0001g0001	1	342	0.0029	19	c.365 others(26): Show c.365_366insTTTATTTCTTGTACTTTTT	p.Glu others(5): Show p.Glu122fs	HGH1	ENSG00000235173.7	transcript	ENST00000347708.5	protein_coding	1/6	428/2534	366/1173	122/390		chr8	TogoVar
HGH1_chr8_144132774_144145851	144138290	ACTCGGGC others(4): Show ACTCGGGCCTGG	A A	frameshift_variant frameshift_variant	HIGH	NA18971.hp1 NA18971.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0001 a0005c0012t0001g0001	1	342	0.0029	-11	c.456 others(18): Show c.456_466delCTCGGGCCTGG	p.Asp others(5): Show p.Asp152fs	HGH1	ENSG00000235173.7	transcript	ENST00000347708.5	protein_coding	1/6	518/2534	456/1173	152/390		chr8	TogoVar
HGS_chr17_81679011_81707121	81695815	GAGCCACG others(3): Show GAGCCACGAGC	G G	frameshift_variant frameshift_variant	HIGH	NA18991.hp1 NA18991.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0002 a0014c0027t0002	a0014c0027t0002g0077 a0014c0027t0002g0077	1	414	0.0024	-10	c.121 others(19): Show c.1212_1221delCCACGAGCAG	p.His others(5): Show p.His405fs	HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding	15/22	1268/2893	1212/2334	404/777	INFO_REALIGN_3_PRIME	chr17	TogoVar
HHIPL1_chr14_99640129_99685569	99675515	G G	GGGCTGGG others(18): Show GGGCTGGGAGCGGAACCTGCTGGAGT	frameshift_variant frameshift_variant	HIGH	HG02896.hp2 HG02896.hp2	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0023 a0000c0014t0023	a0000c0014t0023g0007 a0000c0014t0023g0007	1	374	0.0027	25	c.224 others(34): Show c.2240_2264dupGCTGGGAGCGGAACCTGCTGGAGTG	p.Cys others(5): Show p.Cys755fs	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	9/9	2344/7371	2265/2349	755/782	INFO_REALIGN_3_PRIME	chr14	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584174	GCC GCC	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG01993.hp1 HG02071.hp1 others(9): Show HG00280.hp2 HG01993.hp1 HG02071.hp1 HG02071.hp2 NA18944.hp1 NA18980.hp1 NA18989.hp1 NA19009.hp2 NA19055.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2	a0014 a0018 a0020 a0014 a0018 a0020	a0014c0015 a0018c0018 a0020c0021 a0014c0015 a0018c0018 a0020c0021	a0014c0015t0008 a0018c0018t0008 a0020c0021t0001 others(1): Show a0014c0015t0008 a0018c0018t0008 a0020c0021t0001 a0020c0021t0014	a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 others(8): Show a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0020c0021t0001g0094 a0020c0021t0001g0095 a0020c0021t0014g0093	12	208	0.0577	-2	c.303 others(9): Show c.303_304delGG	p.Ala others(5): Show p.Ala102fs	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	410/1223	303/801	101/266		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584184	G G	GTC GTC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG01993.hp1 HG02071.hp1 others(9): Show HG00280.hp2 HG01993.hp1 HG02071.hp1 HG02071.hp2 NA18944.hp1 NA18980.hp1 NA18989.hp1 NA19009.hp2 NA19055.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2	a0014 a0018 a0020 a0014 a0018 a0020	a0014c0015 a0018c0018 a0020c0021 a0014c0015 a0018c0018 a0020c0021	a0014c0015t0008 a0018c0018t0008 a0020c0021t0001 others(1): Show a0014c0015t0008 a0018c0018t0008 a0020c0021t0001 a0020c0021t0014	a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 others(8): Show a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0020c0021t0001g0094 a0020c0021t0001g0095 a0020c0021t0014g0093	12	208	0.0577	2	c.294 others(9): Show c.294_295insGA	p.Gln others(4): Show p.Gln99fs	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	400/1223	294/801	98/266		chr6	TogoVar
HLA-G_chr6_29822825_29836021	29828657	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG02055.hp1 HG02280.hp1 others(9): Show HG01884.hp2 HG02055.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03516.hp2 HG03834.hp1 NA18948.hp2 NA19240.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0002 a0005c0008t0002g0002	12	479	0.0251	-1	c.460 others(4): Show c.460delC	p.Leu others(5): Show p.Leu154fs	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding	3/7	480/1319	460/1017	154/338	INFO_REALIGN_3_PRIME	chr6	TogoVar
HMG20B_chr19_3567944_3584083	3578053	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01361.hp1 HG01496.hp1 others(11): Show HG00735.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG02886.hp1 HG04204.hp2 NA18973.hp2 NA18980.hp2 NA18985.hp1 NA19000.hp2 NA19074.hp2 NA19082.hp2 NA19090.hp1 NA19090.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 a0000c0002t0001 a0000c0002t0002 a0000c0002t0004	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 others(10): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 a0000c0002t0001g0009 a0000c0002t0001g0014 a0000c0002t0001g0032 a0000c0002t0001g0035 a0000c0002t0001g0051 a0000c0002t0001g0057 a0000c0002t0002g0007 a0000c0002t0002g0021 a0000c0002t0004g0008 a0000c0002t0004g0041	14	406	0.0345	1	c.885 others(4): Show c.885dupC	p.Ala others(5): Show p.Ala296fs	HMG20B	ENSG00000064961.19	transcript	ENST00000333651.11	protein_coding	9/10	955/1585	886/954	296/317	INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results (Total: 5828 hits)