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	status	chr	external
CBX4_chr17_79828156_79844440	79834128	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00558.hp1 HG01099.hp2 others(31): Show HG00438.hp1 HG00558.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp2 HG01928.hp1 HG01978.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02572.hp2 HG03098.hp2 HG03516.hp2 HG04184.hp1 NA18941.hp1 NA18941.hp2 NA18949.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18985.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19054.hp1 NA19075.hp1 NA19081.hp1 NA19087.hp2 NA20300.hp2	a0000 a0000	a0000c0002 a0000c0009 a0000c0013 a0000c0002 a0000c0009 a0000c0013	a0000c0002t0001 a0000c0002t0002 a0000c0002t0003 others(5): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0003 a0000c0002t0005 a0000c0002t0006 a0000c0002t0012 a0000c0009t0001 a0000c0013t0001	a0000c0002t0001g0023 a0000c0002t0001g0035 a0000c0002t0001g0042 others(21): Show a0000c0002t0001g0023 a0000c0002t0001g0035 a0000c0002t0001g0042 a0000c0002t0001g0051 a0000c0002t0001g0080 a0000c0002t0001g0091 a0000c0002t0001g0129 a0000c0002t0001g0134 a0000c0002t0002g0031 a0000c0002t0002g0034 a0000c0002t0002g0039 a0000c0002t0002g0074 a0000c0002t0002g0081 a0000c0002t0002g0109 a0000c0002t0003g0075 a0000c0002t0003g0094 a0000c0002t0003g0104 a0000c0002t0003g0122 a0000c0002t0005g0095 a0000c0002t0006g0084 a0000c0002t0012g0079 a0000c0009t0001g0077 a0000c0009t0001g0102 a0000c0013t0001g0128	34	420	0.0810	1	c.151 others(5): Show c.1513dupG	p.Val others(5): Show p.Val505fs	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding	5/5	1702/2675	1513/1683	505/560		chr17	TogoVar
CBX6_chr22_38856422_38877216	38866233	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01891.hp2 HG02055.hp1 HG02523.hp1 others(6): Show HG01891.hp2 HG02055.hp1 HG02523.hp1 NA18955.hp2 NA18965.hp1 NA18967.hp1 NA18981.hp2 NA18985.hp2 NA19068.hp1	a0000 a0002 a0003 a0000 a0002 a0003	a0000c0005 a0002c0007 a0003c0006 a0000c0005 a0002c0007 a0003c0006	a0000c0005t0003 a0000c0005t0004 a0000c0005t0005 others(6): Show a0000c0005t0003 a0000c0005t0004 a0000c0005t0005 a0000c0005t0007 a0000c0005t0037 a0000c0005t0113 a0002c0007t0024 a0003c0006t0014 a0003c0006t0037	a0000c0005t0003g0163 a0000c0005t0004g0084 a0000c0005t0005g0085 others(6): Show a0000c0005t0003g0163 a0000c0005t0004g0084 a0000c0005t0005g0085 a0000c0005t0007g0075 a0000c0005t0037g0115 a0000c0005t0113g0162 a0002c0007t0024g0077 a0003c0006t0014g0143 a0003c0006t0037g0144	9	406	0.0222	1	c.121 others(5): Show c.1214dupG	p.Gly others(5): Show p.Gly406fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	1240/6052	1214/1239	405/412		chr22	TogoVar
CBX6_chr22_38856422_38877216	38866655	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00673.hp2 HG01358.hp1 HG02055.hp1 others(9): Show HG00673.hp2 HG01358.hp1 HG02055.hp1 HG02055.hp2 HG03098.hp1 HG03139.hp2 HG04204.hp2 NA18974.hp2 NA18987.hp2 NA19030.hp1 NA19030.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0016 a0002c0002t0029 a0002c0002t0053 a0002c0002t0061 a0002c0002t0081 a0002c0002t0109 a0002c0007t0024	a0002c0002t0001g0082 a0002c0002t0002g0147 a0002c0002t0003g0042 others(8): Show a0002c0002t0001g0082 a0002c0002t0002g0147 a0002c0002t0003g0042 a0002c0002t0007g0072 a0002c0002t0016g0061 a0002c0002t0029g0062 a0002c0002t0053g0178 a0002c0002t0061g0063 a0002c0002t0081g0081 a0002c0002t0109g0083 a0002c0007t0024g0077	12	406	0.0296	1	c.792 others(4): Show c.792dupC	p.Ala others(5): Show p.Ala265fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	818/6052	792/1239	264/412		chr22	TogoVar
CBX6_chr22_38856422_38877216	38866881	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG02895.hp1 HG03831.hp1 others(6): Show HG01109.hp1 HG02895.hp1 HG03831.hp1 NA18966.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA19011.hp2 NA19062.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(5): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0005 a0003c0004t0012 a0003c0004t0046 a0003c0006t0014 a0003c0006t0037	a0003c0004t0001g0101 a0003c0004t0002g0145 a0003c0004t0003g0045 others(5): Show a0003c0004t0001g0101 a0003c0004t0002g0145 a0003c0004t0003g0045 a0003c0004t0005g0102 a0003c0004t0012g0071 a0003c0004t0046g0150 a0003c0006t0014g0143 a0003c0006t0037g0144	9	406	0.0222	1	c.566 others(4): Show c.566dupG	p.Ala others(5): Show p.Ala190fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	592/6052	566/1239	189/412		chr22	TogoVar
CBX8_chr17_79787132_79802077	79795262	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01261.hp2 HG02055.hp2 others(7): Show HG00738.hp2 HG01261.hp2 HG02055.hp2 HG02071.hp1 HG02148.hp2 HG02818.hp1 NA18963.hp2 NA18990.hp2 NA18994.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0003 a0003c0004	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0008 a0003c0003t0010 a0003c0004t0001 a0003c0004t0025	a0003c0003t0001g0044 a0003c0003t0002g0045 a0003c0003t0003g0047 others(6): Show a0003c0003t0001g0044 a0003c0003t0002g0045 a0003c0003t0003g0047 a0003c0003t0004g0039 a0003c0003t0007g0036 a0003c0003t0008g0046 a0003c0003t0010g0043 a0003c0004t0001g0024 a0003c0004t0025g0042	10	412	0.0243	1	c.542 others(4): Show c.542dupG	p.Thr others(5): Show p.Thr182fs	CBX8	ENSG00000141570.11	transcript	ENST00000269385.9	protein_coding	5/5	621/3752	542/1170	181/389		chr17	TogoVar
CBY2_chr13_45697320_45719559	45713927	GCTCCGGC others(7): Show GCTCCGGCCTCTCCT	G G	frameshift_variant frameshift_variant	HIGH	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0003 a0003c0015t0001g0003	1	440	0.0023	-14	c.904 others(21): Show c.904_917delTCCGGCCTCTCCTC	p.Ser others(5): Show p.Ser302fs	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding	3/3	975/1605	904/1347	302/448	INFO_REALIGN_3_PRIME	chr13	TogoVar
CCDC102A_chr16_57507181_57541571	57515374	TTCTCGCT others(52): Show TTCTCGCTCTGCTCCGTCTGCTCGTCCAGCGACCGCTGCAGCTTACGTGC CTGGTTGTGG	T T	frameshift_variant frameshift_variant	HIGH	NA18961.hp2 NA18961.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0082 a0010c0019t0001g0082	1	416	0.0024	-59	c.143 others(68): Show c.1431_1489delCCACAACCAGGCACGTAAGCTGCAGCGGTCGCTGGA CGAGCAGACGGAGCAGAGCGAGA	p.His others(5): Show p.His478fs	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	8/9	1708/2432	1431/1653	477/550		chr16	TogoVar
CCDC102A_chr16_57507181_57541571	57518224	C C	CAGCCGCT others(66): Show CAGCCGCTCCCGGCGGCCCCACTCCGCAGCGTTTTTCGGCCCTGCAGCCG CTCCATCTGCAGCAGGGCAGGGCA	frameshift_variant frameshift_variant	HIGH	HG02155.hp1 HG02155.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0103 a0007c0020t0001g0103	1	416	0.0024	73	c.109 others(82): Show c.1091_1092insTGCCCTGCCCTGCTGCAGATGGAGCGGCTGCAGGGC CGAAAAACGCTGCGGAGTGGGGCCGCCGGGAGCGGCT	p.Glu others(5): Show p.Glu365fs	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	6/9	1310/2432	1091/1653	364/550		chr16	TogoVar
CCDC120_chrX_49053999_49074854	49063932	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0004 a0003c0009t0001g0004	1	287	0.0035	1	c.366 others(4): Show c.366dupC	p.Thr others(5): Show p.Thr123fs	CCDC120	ENSG00000147144.13	transcript	ENST00000603986.6	protein_coding	5/11	547/3467	367/2091	123/696	INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC120_chrX_49053999_49074854	49065530	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0047 a0004c0006t0001g0047	1	287	0.0035	-1	c.870 others(4): Show c.870delG	p.Ser others(5): Show p.Ser291fs	CCDC120	ENSG00000147144.13	transcript	ENST00000603986.6	protein_coding	8/11	1050/3467	870/2091	290/696	INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC120_chrX_49053999_49074854	49067516	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01099.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0001 a0005c0007t0001g0001	1	287	0.0035	1	c.140 others(5): Show c.1408dupC	p.Arg others(5): Show p.Arg470fs	CCDC120	ENSG00000147144.13	transcript	ENST00000603986.6	protein_coding	10/11	1589/3467	1409/2091	470/696	INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC144A_chr17_16685241_16782881	16733958	CGAAACCC others(1665): Show CGAAACCCCATCTCTACAAAAAGTACAAATACATTTAGCTGCGTGTGGGG GTGTGTGCCTCTAGTTCAGCTACCCAGGAGGCTGAAGTGGGAGGATCACC TGAGCCCGGGAGGCCAAGGCTACAGTGAGTCTTGATTGCGTCACTGCCCT CTAACCTGAGTGATGGAGTGGAGACCCTATCTCGAAAAAAAAAAAAAAAA AGCCTAATATAATGCTTAGATTTAGCATTTATGAATAAATGTAATTCTTA TATAACTGATGAGAAAAATGTTAGAAAAATAAATAGCTATAGAATATTCT CAGGAAAAAAAGAACTTAAAGAACGTTGGAACATTTCCTCTGTCCAGATA TATGCAAAGCTACAGCTTTTACTATAGGGTGGTGTATAGGTTAGATGTCA GAGTGTAAAGCCAATTTTTTAATGTAGTCAAATTTATTAATCTTTAATGC CTTTGAGTTTGTTGTAATTTGGAGACCGTCTTTTCCAATTCTGAGATGCT TAAAAATTCTCTAGTTATTTATGTTCTACATTCATGGATTCATTGTCTTC AAATAAACTTATGAAGTTTTGGGAATTTATGCTCTATGAGGTTTGAAGTT TCGATAGAATATTTTTTTCCAGTTGGATATCCACTTATGGCAATCTTTTC ATTGTATACATTATTTAATTTCAGAGAAAATCATAATCTGTCATTTTATT GAGTGCTACTGAATGTTTCCTTTCTTACTTAGATTTCTCATAGGCATCAG AAAGAAAAGGATCTCTTTCATGAAGATTGCATGTTGCAGGAAGAAATTGC CTTGCTGAGACTGGAAATAGATACAATAAAAAATCAGAACAAGCAAAAGG AAAAGAAATATTTTGAGGACATTGAGGCTGTGAAAGAAAAGAATGATAAC CTTCAAAAAATTATAAAACTAAATGAGGAAACATTAACAGAAACAATACT CCAGTACAGTGGACAGCTGAACAATCTGACAGCTGAGAACAAAATACTCA ATTCTGAACTGGAGAATGGGAAACAGAACCAAGAAAGACTAGAAATAGAA ATGGAATCATACCGTTGTAGACTAGCTGCTGCTGTACGTGACTGTGATCA AAGTCAGACAGCAAGAGACCTAAAACTTGATTTCCAGAGAACAAGACAAG AGTGGGTTCGTTTACATGACAAAATGAAGGTTGATATGTCTGGCCTACAA GCTAAGAATGAGATTCTTTCTGAAAAACTTTCTAATGCTGAAAGTAAAAT TAACAGCCTACAAATTCAGCTCCATAACACAAGAGATGCTCTTGGAAGAG AGAGTTTGATTTTGGAACGTGTGCAAAGAGACCTCAGCCAAACACAGTGT CAGAAGAAAGAAACTGAACAAATGTACCAAATTGAACAAAGCAAACTGAA GAAATACATTGCCAAGCAGGAATCTGTAGAGGAGAGATTATCTCAACTAC AAAGTGAAAATATGTTGCTTCGACAGCAACTGGATGATGCTCACAAGAAA GCTAACAGTCAAGAAAAGACAAGCAGTACTATCCAAGACCAGTTTCATTC TGCTGCCAAAAATCTTCAAGCTGAGAGTGAAAAGCAGATTCTTTCACTAC AAGAGAAGAACAAGGAGCTGATGGATGAATATAATCATTTAAAAGAAAGA ATGGATCAATGTGAGAAAGAGAA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA20805.hp2 NA20805.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0025 a0008c0020t0001g0025	1	318	0.0031	-1672	c.241 others(13): Show c.2419-731_3359del	p.Ile others(5): Show p.Ile807fs	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	12/17		2419/4278	807/1425		chr17	TogoVar
CCDC159_chr19_11341519_11359944	11353528	T T	TGGTGCTG others(3): Show TGGTGCTGGGA	frameshift_variant frameshift_variant	HIGH	NA19068.hp1 NA19068.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0010 a0006c0008t0001g0010	1	358	0.0028	10	c.647 others(17): Show c.647_648insTGCTGGGAGG	p.Cys others(5): Show p.Cys217fs	CCDC159	ENSG00000183401.12	transcript	ENST00000458408.6	protein_coding	8/11	736/1049	648/894	216/297	INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC160_chrX_134232182_134251842	134245768	AT AT	A A	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	NA19054.hp2 NA19054.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0007 a0000c0005t0007	a0000c0005t0007g0099 a0000c0005t0007g0099	1	311	0.0032	-1	c.976 others(4): Show c.976delT	p.Ter others(5): Show p.Ter326fs	CCDC160	ENSG00000203952.10	transcript	ENST00000695460.1	protein_coding	3/3	1253/2319	976/978	326/325	INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC163_chr1_45488866_45505073	45499365	AGATACAG others(58): Show AGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCT GTGGAGACCCCAAGAG	A A	frameshift_variant frameshift_variant	HIGH	NA18944.hp1 NA18969.hp1 NA18971.hp2 others(7): Show NA18944.hp1 NA18969.hp1 NA18971.hp2 NA18984.hp2 NA18986.hp2 NA19000.hp2 NA19007.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0013 a0003c0003t0006g0067 a0003c0003t0006g0068 others(1): Show a0003c0003t0006g0013 a0003c0003t0006g0067 a0003c0003t0006g0068 a0003c0003t0006g0069	10	408	0.0245	-65	c.92_ others(71): Show c.92_156delCTCTTGGGGTCTCCACAGAGCTCATTGGCCTGTGCATCT GTTTCTTCTGTAGCAGTGGCTGTATC	p.Pro others(4): Show p.Pro31fs	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/5	620/2095	92/438	31/145		chr1	TogoVar
CCDC187_chr9_136244973_136309094	136253933	C C	CCCACCAG others(21): Show CCCACCAGGCCCAGGCGCCCGGCTCTCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03239.hp1 HG03927.hp2 HG03239.hp1 HG03927.hp2	a0058 a0058	a0058c0038 a0058c0038	a0058c0038t0002 a0058c0038t0002	a0058c0038t0002g0067 a0058c0038t0002g0200 a0058c0038t0002g0067 a0058c0038t0002g0200	2	400	0.0050	28	c.586 others(37): Show c.5867_5894dupCTGAGAGCCGGGCGCCTGGGCCTGGTGG	p.Asn others(6): Show p.Asn1966fs	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	6158/10119	5894/6234	1965/2077		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136254850	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG02451.hp1 HG02559.hp1 others(2): Show HG00741.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG03139.hp1	a0067 a0088 a0166 others(2): Show a0067 a0088 a0166 a0172 a0180	a0067c0228 a0088c0190 a0166c0106 others(2): Show a0067c0228 a0088c0190 a0166c0106 a0172c0138 a0180c0150	a0067c0228t0050 a0088c0190t0016 a0166c0106t0016 others(2): Show a0067c0228t0050 a0088c0190t0016 a0166c0106t0016 a0172c0138t0128 a0180c0150t0016	a0067c0228t0050g0011 a0088c0190t0016g0316 a0166c0106t0016g0155 others(2): Show a0067c0228t0050g0011 a0088c0190t0016g0316 a0166c0106t0016g0155 a0172c0138t0128g0299 a0180c0150t0016g0203	5	400	0.0125	1	c.497 others(10): Show c.4977_4978insT	p.Glu others(6): Show p.Glu1660fs	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	5241/10119	4977/6234	1659/2077		chr9	TogoVar
CCDC22_chrX_49230470_49255520	49242069	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0043 a0004c0006t0001g0043	1	296	0.0034	1	c.284 others(4): Show c.284dupC	p.Asp others(4): Show p.Asp96fs	CCDC22	ENSG00000101997.13	transcript	ENST00000376227.4	protein_coding	3/17	452/2310	285/1884	95/627	INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC22_chrX_49230470_49255520	49246740	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18962.hp1 NA18962.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0078 a0009c0009t0001g0078	1	296	0.0034	-1	c.727 others(4): Show c.727delG	p.Ala others(5): Show p.Ala243fs	CCDC22	ENSG00000101997.13	transcript	ENST00000376227.4	protein_coding	7/17	894/2310	727/1884	243/627	INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC22_chrX_49230470_49255520	49246809	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18962.hp1 NA18962.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0078 a0009c0009t0001g0078	1	296	0.0034	-1	c.798 others(4): Show c.798delC	p.Ile others(5): Show p.Ile267fs	CCDC22	ENSG00000101997.13	transcript	ENST00000376227.4	protein_coding	7/17	965/2310	798/1884	266/627	INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC22_chrX_49230470_49255520	49247541	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18962.hp1 NA18962.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0078 a0009c0009t0001g0078	1	296	0.0034	-1	c.958 others(4): Show c.958delC	p.Arg others(5): Show p.Arg320fs	CCDC22	ENSG00000101997.13	transcript	ENST00000376227.4	protein_coding	8/17	1125/2310	958/1884	320/627	INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC22_chrX_49230470_49255520	49247550	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0069 a0006c0013t0001g0069	1	296	0.0034	1	c.964 others(8): Show c.964_965insT	p.Pro others(5): Show p.Pro322fs	CCDC22	ENSG00000101997.13	transcript	ENST00000376227.4	protein_coding	8/17	1132/2310	965/1884	322/627		chrX	TogoVar
CCDC28B_chr1_32195595_32210387	32205217	A A	AGAGGGTC others(4): Show AGAGGGTCTGGG	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA18974.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0028 a0000c0005t0001g0028	1	416	0.0024	11	c.572 others(18): Show c.572_573insGAGGGTCTGGG	p.Asn others(5): Show p.Asn191fs	CCDC28B	ENSG00000160050.16	transcript	ENST00000373602.10	protein_coding	6/6	711/880	573/603	191/200		chr1	TogoVar
CCDC40_chr17_80031642_80105613	80099735	A A	AGATGATC others(12): Show AGATGATCGCCAACAAGCTC	frameshift_variant frameshift_variant	HIGH	HG02896.hp2 HG02896.hp2	a0000 a0000	a0000c0072 a0000c0072	a0000c0072t0002 a0000c0072t0002	a0000c0072t0002g0308 a0000c0072t0002g0308	1	378	0.0027	19	c.339 others(28): Show c.3392_3410dupTGATCGCCAACAAGCTCGA	p.Glu others(6): Show p.Glu1137fs	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	20/20	3432/4288	3411/3429	1137/1142	INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC54_chr3_107372439_107383635	107378233	CAAATG CAAATG	C C	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00558.hp1 HG02129.hp1 others(5): Show HG00438.hp1 HG00558.hp1 HG02129.hp1 NA18960.hp1 NA18964.hp2 NA18985.hp2 NA19064.hp1 NA19066.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	8	400	0.0200	-5	c.650 others(12): Show c.650_654delTGAAA	p.Met others(5): Show p.Met217fs	CCDC54	ENSG00000138483.3	transcript	ENST00000261058.3	protein_coding	1/1	799/1197	650/987	217/328	INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC62_chr12_122769572_122832528	122798066	TTGTCAAT others(16): Show TTGTCAATATCTATGACAGATTTA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18972.hp1 NA18972.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0004 a0007c0012t0004	a0007c0012t0004g0020 a0007c0012t0004g0020	1	298	0.0034	-23	c.862 others(33): Show c.862-15_869delCAATATCTATGACAGATTTATGT	p.Ile others(5): Show p.Ile288fs	CCDC62	ENSG00000130783.14	transcript	ENST00000253079.11	protein_coding	8/13		862/2055	288/684	INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC74B_chr2_130134287_130150112	130139689	GGCTGGGG others(25): Show GGCTGGGGGCGGGTAGAGGGACTGTCACCGTGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18990.hp2 NA18990.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0001 a0016c0021t0001	a0016c0021t0001g0075 a0016c0021t0001g0075	1	450	0.0022	-32	c.810 others(42): Show c.810-31_810delTCACGGTGACAGTCCCTCTACCCGCCCCCAGC	p.Leu others(5): Show p.Leu271fs	CCDC74B	ENSG00000152076.19	transcript	ENST00000409943.8	protein_coding	8/8	926/1329	810/945	270/314		chr2	TogoVar
CCDC78_chr16_717582_731443	722979	GTGGCCCG others(10): Show GTGGCCCGGACCAGCAGC	G G	frameshift_variant frameshift_variant	HIGH	NA19089.hp2 NA19089.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0034 a0015c0021t0001g0034	1	390	0.0026	-17	c.122 others(26): Show c.1227_1243delGCTGCTGGTCCGGGCCA	p.Gln others(5): Show p.Gln409fs	CCDC78	ENSG00000162004.19	transcript	ENST00000345165.10	protein_coding	13/14	1319/1585	1227/1413	409/470		chr16	TogoVar
CCDC7_chr10_32441140_32887864	32847890	TAA TAA	T T	frameshift_variant frameshift_variant	HIGH	HG01516.hp2 HG01517.hp2 HG01891.hp2 others(2): Show HG01516.hp2 HG01517.hp2 HG01891.hp2 HG03688.hp2 homoSapiens_chm13v2.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0119 a0009c0011t0001g0120 a0009c0011t0001g0121 others(2): Show a0009c0011t0001g0119 a0009c0011t0001g0120 a0009c0011t0001g0121 a0009c0011t0001g0122 a0009c0011t0001g0123	5	368	0.0136	-2	c.374 others(11): Show c.3748_3749delAA	p.Lys others(6): Show p.Lys1250fs	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	39/44	4057/4826	3748/4158	1250/1385	INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55295815	T T	TGAGTGCC others(7): Show TGAGTGCCTGGTGTA	frameshift_variant frameshift_variant	HIGH	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0039 a0007c0013t0039	a0007c0013t0039g0090 a0007c0013t0039g0090	1	316	0.0032	14	c.531 others(23): Show c.5319_5332dupTACACCAGGCACTC	p.Gln others(6): Show p.Gln1778fs	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	31/33	6109/9751	5332/5616	1778/1871		chr2	TogoVar
CCNQ_chrX_153582925_153604139	153594653	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0067 a0004c0007t0001g0067	1	302	0.0033	-1	c.322 others(4): Show c.322delC	p.Leu others(5): Show p.Leu108fs	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding	3/5	388/1253	322/747	108/248		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153596032	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19060.hp1 NA19060.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0068 a0006c0008t0001g0068	1	302	0.0033	1	c.267 others(4): Show c.267dupG	p.Thr others(4): Show p.Thr90fs	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding	2/5	333/1253	267/747	89/248		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153596053	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0004 a0005c0003t0004	a0005c0003t0004g0054 a0005c0003t0004g0054	1	302	0.0033	1	c.246 others(4): Show c.246dupA	p.Val others(4): Show p.Val83fs	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding	2/5	312/1253	246/747	82/248		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153596059	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0004 a0005c0003t0004	a0005c0003t0004g0054 a0005c0003t0004g0054	1	302	0.0033	1	c.240 others(4): Show c.240dupC	p.Gly others(4): Show p.Gly81fs	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding	2/5	306/1253	240/747	80/248		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153596097	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19060.hp1 NA19060.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0068 a0006c0008t0001g0068	1	302	0.0033	1	c.202 others(4): Show c.202dupG	p.Asp others(4): Show p.Asp68fs	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding	2/5	268/1253	202/747	68/248		chrX	TogoVar
CCR5_chr3_46365946_46381206	46373452	TACAGTCA others(25): Show TACAGTCAGTATCAATTCTGGAAGAATTTCCAG	T T	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG01123.hp1 others(1): Show HG00140.hp1 HG00280.hp1 HG01123.hp1 HG01175.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	4	422	0.0095	-32	c.554 others(39): Show c.554_585delGTCAGTATCAATTCTGGAAGAATTTCCAGACA	p.Ser others(5): Show p.Ser185fs	CCR5	ENSG00000160791.14	transcript	ENST00000292303.5	protein_coding	2/2	608/3358	554/1059	185/352	INFO_REALIGN_3_PRIME	chr3	TogoVar
CCT6A_chr7_56046765_56068989	56061810	TCAGAATC others(25): Show TCAGAATCAGGTCAGCTTGTGGGTGTGGACCTG	T T	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0127 a0005c0011t0001g0127	1	428	0.0023	-32	c.141 others(41): Show c.1412_1443delCAGAATCAGGTCAGCTTGTGGGTGTGGACCTG	p.Ser others(5): Show p.Ser471fs	CCT6A	ENSG00000146731.11	transcript	ENST00000275603.9	protein_coding	12/14	1496/2584	1412/1596	471/531		chr7	TogoVar
CD1D_chr1_158175895_158191427	158182157	ACCCAAGA others(3): Show ACCCAAGAGGC	A A	frameshift_variant frameshift_variant	HIGH	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	434	0.0023	-10	c.459 others(17): Show c.459_468delAGAGGCCCCA	p.Gln others(5): Show p.Gln153fs	CD1D	ENSG00000158473.8	transcript	ENST00000674085.2	protein_coding	3/6	666/3492	459/1008	153/335	INFO_REALIGN_3_PRIME	chr1	TogoVar
CD200R1L_chr3_112810711_112851864	112827063	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(46): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG04228.hp2 HG06807.hp1 NA18949.hp2 NA18967.hp1 NA18981.hp1 NA18994.hp1 NA18999.hp1 NA19030.hp1 NA19055.hp2 NA19060.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0006t0001 a0003c0004t0001 a0003c0006t0001	a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0019 others(25): Show a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0019 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0065 a0003c0004t0001g0068 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0092 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0180 a0003c0006t0001g0076	49	408	0.1201	-1	c.545 others(4): Show c.545delA	p.His others(5): Show p.His182fs	CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	6/8	1143/1603	545/753	182/250		chr3	TogoVar
CD207_chr2_70825211_70840816	70833690	AGT AGT	A A	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG00673.hp1 HG02015.hp2 others(4): Show HG00609.hp2 HG00673.hp1 HG02015.hp2 HG02165.hp2 NA18747.hp1 NA18961.hp2 NA18992.hp2	a0008 a0012 a0014 a0008 a0012 a0014	a0008c0036 a0012c0016 a0014c0021 a0008c0036 a0012c0016 a0014c0021	a0008c0036t0001 a0012c0016t0001 a0014c0021t0001 a0008c0036t0001 a0012c0016t0001 a0014c0021t0001	a0008c0036t0001g0126 a0012c0016t0001g0031 a0012c0016t0001g0125 others(1): Show a0008c0036t0001g0126 a0012c0016t0001g0031 a0012c0016t0001g0125 a0014c0021t0001g0039	7	444	0.0158	-2	c.519 others(9): Show c.519_520delAC	p.Leu others(5): Show p.Leu174fs	CD207	ENSG00000116031.9	transcript	ENST00000410009.5	protein_coding	3/6	560/1866	519/987	173/328		chr2	TogoVar
CD33_chr19_51220080_51245016	51226321	ACCCAACA others(12): Show ACCCAACAACTGGTATCTTT	A A	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG02132.hp2 NA18946.hp1 others(3): Show HG00609.hp2 HG02132.hp2 NA18946.hp1 NA18970.hp1 NA18990.hp1 NA18991.hp2	a0009 a0014 a0009 a0014	a0009c0007 a0014c0016 a0009c0007 a0014c0016	a0009c0007t0002 a0014c0016t0001 a0014c0016t0002 a0009c0007t0002 a0014c0016t0001 a0014c0016t0002	a0009c0007t0002g0015 a0009c0007t0002g0059 a0014c0016t0001g0062 others(1): Show a0009c0007t0002g0015 a0009c0007t0002g0059 a0014c0016t0001g0062 a0014c0016t0002g0015	6	366	0.0164	-19	c.713 others(26): Show c.713_731delCAACAACTGGTATCTTTCC	p.Pro others(5): Show p.Pro238fs	CD33	ENSG00000105383.15	transcript	ENST00000262262.5	protein_coding	4/7	752/1462	713/1095	238/364	INFO_REALIGN_3_PRIME	chr19	TogoVar
CD36_chr7_80633642_80684274	80673379	CTATATTG others(7): Show CTATATTGTGCCTAT	C C	frameshift_variant frameshift_variant	HIGH	NA18956.hp1 NA18978.hp1 NA18956.hp1 NA18978.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0071 a0004c0007t0004g0074 a0004c0007t0004g0071 a0004c0007t0004g0074	2	392	0.0051	-14	c.122 others(23): Show c.1226_1239delATATTGTGCCTATT	p.Tyr others(5): Show p.Tyr409fs	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding	13/15	1514/4598	1226/1419	409/472	INFO_REALIGN_3_PRIME	chr7	TogoVar
CD40LG_chrX_136643158_136665390	136654402	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0018 a0004c0008t0018	a0004c0008t0018g0051 a0004c0008t0018g0051	1	287	0.0035	-1	c.321 others(4): Show c.321delA	p.Glu others(5): Show p.Glu108fs	CD40LG	ENSG00000102245.9	transcript	ENST00000370629.7	protein_coding	3/5	412/1852	321/786	107/261	INFO_REALIGN_3_PRIME	chrX	TogoVar
CD44_chr11_35134171_35237402	35176590	G G	GCCGCTTT others(12): Show GCCGCTTTGCAGGTGTATTC	frameshift_variant frameshift_variant	HIGH	NA18967.hp1 NA18967.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0237 a0008c0020t0001g0237	1	378	0.0027	19	c.85_ others(25): Show c.85_103dupCGCTTTGCAGGTGTATTCC	p.His others(4): Show p.His35fs	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding	2/18	237/5431	104/2229	35/742	INFO_REALIGN_3_PRIME	chr11	TogoVar
CD8B_chr2_86833167_86866886	86858232	TGCGGAAT others(181): Show TGCGGAATCCCAGAGGGCCAGGAACTCGTGGTGACTGTCACTGCTCGGTG CCTGGCGCTGTCTCAGCCAGTAGATGCGCATGTTACTGAGGGAGATTTTA GCCTCGCAGGACAGCATCACCATCTTGTTGGTTTGCACCTTTATGTATGC AGGGGTCTGCTGGAGGACTGAGTTGCCATGGAGAACTAG	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0165 a0005c0011t0002g0165	1	392	0.0026	-188	c.44- others(8): Show c.44-4_227del	p.Val others(4): Show p.Val15fs	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding	2/6	248/4794	44/633	15/210		chr2	TogoVar
CD99L2_chrX_150761336_150903668	150776179	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0042 a0003c0004t0042	a0003c0004t0042g0209 a0003c0004t0042g0209	1	212	0.0047	-1	c.649 others(4): Show c.649delA	p.Ile others(5): Show p.Ile217fs	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	9/11	729/3567	649/789	217/262		chrX	TogoVar
CD99L2_chrX_150761336_150903668	150776292	GC GC	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0042 a0003c0004t0042	a0003c0004t0042g0209 a0003c0004t0042g0209	1	212	0.0047	-1	c.536 others(4): Show c.536delG	p.Gly others(5): Show p.Gly179fs	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	9/11	616/3567	536/789	179/262		chrX	TogoVar
CD99_chrX_2686295_2746309	2691364	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0165 a0005c0010t0001g0165	1	228	0.0044	1	c.7du others(2): Show c.7dupC	p.Arg others(3): Show p.Arg3fs	CD99	ENSG00000002586.20	transcript	ENST00000381192.10	protein_coding	1/10	74/1129	8/558	3/185	INFO_REALIGN_3_PRIME	chrX	TogoVar
CD99_chrX_2686295_2746309	2740790	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA18992.hp1 NA18992.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0008 a0006c0013t0008	a0006c0013t0008g0012 a0006c0013t0008g0012	1	228	0.0044	-1	c.548 others(4): Show c.548delT	p.Leu others(5): Show p.Leu183fs	CD99	ENSG00000002586.20	transcript	ENST00000381192.10	protein_coding	10/10	614/1129	548/558	183/185	INFO_REALIGN_3_PRIME	chrX	TogoVar
CD9_chr12_6195400_6243266	6233438	C C	CGCCATTG others(18): Show CGCCATTGAAATAGCTGCGGCCATCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19075.hp2 NA19075.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0146 a0003c0004t0001g0146	1	378	0.0027	25	c.302 others(32): Show c.302_326dupCCATTGAAATAGCTGCGGCCATCTG	p.Trp others(5): Show p.Trp109fs	CD9	ENSG00000010278.15	transcript	ENST00000009180.10	protein_coding	4/8	427/1225	327/687	109/228	INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 5828 hits)