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
KRTAP1-3_chr17_41028884_41039874	41034721	C C	CAGCTGGT others(23): Show CAGCTGGTCTCACAGCAGCTTGGCTGGCAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01346.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03831.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18981.hp1 NA18990.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19089.hp2 NA20129.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0007 a0004c0004 a0008c0007	a0004c0004t0002 a0008c0007t0002 a0004c0004t0002 a0008c0007t0002	a0004c0004t0002g0000 a0008c0007t0002g0000 a0004c0004t0002g0000 a0008c0007t0002g0000	64	435	0.1471	30	c.100 others(37): Show c.100_101insCCTGCCAGCCAAGCTGCTGTGAGACCAGCT	p.Ser others(41): Show p.Ser33_Cys34insSerCysGlnProSerCysCysGluThrSer	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding	1/1	153/991	100/504	34/167		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41034742	G G	GGCTGGCA others(23): Show GGCTGGCAGCAGCTGGTCTCACAGCAGCTTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02559.hp1 HG02615.hp1 others(4): Show HG02258.hp2 HG02559.hp1 HG02615.hp1 HG02809.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0008 a0006c0006t0001 a0006c0006t0008	a0006c0006t0001g0000 a0006c0006t0008g0000 a0006c0006t0001g0000 a0006c0006t0008g0000	7	435	0.0161	30	c.79_ others(35): Show c.79_80insAAAGCTGCTGTGAGACCAGCTGCTGCCAGC	p.Gln others(41): Show p.Gln26_Pro27insGlnSerCysCysGluThrSerCysCysGln	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding	1/1	132/991	79/504	27/167		chr17	TogoVar
KRTAP10-6_chr21_44586268_44597505	44591551	A A	AGGAGGGT others(17): Show AGGAGGGTGGCAGCAGGTGGACTTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18954.hp2 NA18982.hp2 NA18993.hp2 others(1): Show NA18954.hp2 NA18982.hp2 NA18993.hp2 NA19002.hp1	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0000 a0019c0019t0001g0000	4	428	0.0094	24	c.933 others(31): Show c.933_934insCAAGTCCACCTGCTGCCACCCTCC	p.Val others(37): Show p.Val311_Cys312insGlnValHisLeuLeuProProSer	KRTAP10-6	ENSG00000188155.11	transcript	ENST00000400368.1	protein_coding	1/1	954/1238	933/1098	311/365		chr21	TogoVar
KRTAP10-6_chr21_44586268_44597505	44591838	G G	GACTGGCA others(131): Show GACTGGCAGCTAGACTGCTGGCAGCATGAAGAATCCCCACTGCAGACAGG CACACAGTACACAGGCTTGCAGCAGACAGTCTTGCAGCAGACGGGCACGC AGCAGGCCTGCTGGCAGGGGGAGGAGGCACAGCAAGCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp2 HG01167.hp1 HG01358.hp1 others(24): Show HG01081.hp2 HG01167.hp1 HG01358.hp1 HG01952.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02965.hp2 HG03195.hp1 HG03486.hp1 NA18959.hp2 NA18992.hp1 NA19000.hp2 NA19030.hp1 NA19058.hp1 NA19086.hp2 NA21309.hp1	a0005 a0011 a0031 others(2): Show a0005 a0011 a0031 a0040 a0042	a0005c0006 a0005c0057 a0011c0023 others(5): Show a0005c0006 a0005c0057 a0011c0023 a0011c0024 a0011c0074 a0031c0056 a0040c0052 a0042c0063	a0005c0006t0001 a0005c0057t0001 a0011c0023t0001 others(5): Show a0005c0006t0001 a0005c0057t0001 a0011c0023t0001 a0011c0024t0001 a0011c0074t0001 a0031c0056t0001 a0040c0052t0001 a0042c0063t0001	a0005c0006t0001g0000 a0005c0057t0001g0000 a0011c0023t0001g0000 others(5): Show a0005c0006t0001g0000 a0005c0057t0001g0000 a0011c0023t0001g0000 a0011c0024t0001g0000 a0011c0074t0001g0000 a0031c0056t0001g0000 a0040c0052t0001g0000 a0042c0063t0001g0000	27	428	0.0631	138	c.646 others(145): Show c.646_647insTGGCTTGCTGTGCCTCCTCCCCCTGCCAGCAGGCCTGC TGCGTGCCCGTCTGCTGCAAGACTGTCTGCTGCAAGCCTGTGTACTGTGT GCCTGTCTGCAGTGGGGATTCTTCATGCTGCCAGCAGTCTAGCTGCCAGT	p.Pro others(150): Show p.Pro216delinsLeuAlaCysCysAlaSerSerProCysGlnGlnAla CysCysValProValCysCysLysThrValCysCysLysProValTyrCy sValProValCysSerGlyAspSerSerCysCysGlnGlnSerSerCysG lnSer	KRTAP10-6	ENSG00000188155.11	transcript	ENST00000400368.1	protein_coding	1/1	667/1238	646/1098	216/365		chr21	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054887	C C	CGCAGGGA others(8): Show CGCAGGGAGGCCGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02523.hp1 HG02818.hp2 HG02523.hp1 HG02818.hp2	a0001 a0003 a0001 a0003	a0001c0015 a0003c0018 a0001c0015 a0003c0018	a0001c0015t0002 a0003c0018t0002 a0001c0015t0002 a0003c0018t0002	a0001c0015t0002g0000 a0003c0018t0002g0000 a0001c0015t0002g0000 a0003c0018t0002g0000	2	411	0.0049	15	c.324 others(22): Show c.324_325insTGCCGGCCTCCCTGC	p.Cys others(28): Show p.Cys108_Gly109insCysArgProProCys	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	343/733	324/372	108/123		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054887	C C	CGCAGGGG others(188): Show CGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAG GAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGA CTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGAGGTCC TGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGGCCGGCA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0000 a0001c0014t0001g0000	1	411	0.0024	195	c.324 others(202): Show c.324_325insTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGCAGCAC CACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGT CTGTGCAGTCCCCCTGCGGCCAGCCGACCCCTTGCAGCACCACCTGCAGG ACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGTCTGTGCAGTC CCCCTGC	p.Cys others(208): Show p.Cys108_Gly109insCysArgProProCysGlyGlnProThrProCy sSerThrThrCysArgThrSerSerCysTerAlaThrThrCysCysGlnP roValSerValGlnSerProCysGlyGlnProThrProCysSerThrThr CysArgThrSerSerCysTerAlaThrThrCysCysGlnProValSerVa lGlnSerProCys	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	343/733	324/372	108/123		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054887	C C	CGCAGGGG others(98): Show CGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAG GAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGG CCGGCA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18947.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18966.hp1 NA18973.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19067.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0003c0004t0001 a0003c0004t0008	a0001c0002t0001g0000 a0001c0002t0005g0000 a0001c0002t0013g0000 others(2): Show a0001c0002t0001g0000 a0001c0002t0005g0000 a0001c0002t0013g0000 a0003c0004t0001g0000 a0003c0004t0008g0000	147	411	0.3577	105	c.324 others(112): Show c.324_325insTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGCAGCAC CACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGT CTGTGCAGTCCCCCTGC	p.Cys others(118): Show p.Cys108_Gly109insCysArgProProCysGlyGlnProThrProCy sSerThrThrCysArgThrSerSerCysTerAlaThrThrCysCysGlnP roValSerValGlnSerProCys	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	343/733	324/372	108/123		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054887	C C	CGCAGGGG others(8): Show CGCAGGGGGGCCGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(189): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009	a0001c0001 a0003c0006 a0004c0005 others(4): Show a0001c0001 a0003c0006 a0004c0005 a0005c0007 a0007c0009 a0008c0016 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0003c0006t0003 a0004c0005t0004 a0005c0007t0004 a0007c0009t0001 a0008c0016t0011 a0009c0019t0010	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(8): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0009g0000 a0001c0001t0012g0000 a0003c0006t0003g0000 a0004c0005t0004g0000 a0005c0007t0004g0000 a0007c0009t0001g0000 a0008c0016t0011g0000 a0009c0019t0010g0000	192	411	0.4672	15	c.324 others(22): Show c.324_325insTGCCGGCCCCCCTGC	p.Cys others(28): Show p.Cys108_Gly109insCysArgProProCys	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	343/733	324/372	108/123		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054892	G G	GGGGACTG others(98): Show GGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGA GGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGGCCGGC AGCAGA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02523.hp2 NA18969.hp2 NA19006.hp2 others(2): Show HG02523.hp2 NA18969.hp2 NA19006.hp2 NA19070.hp2 NA19075.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	5	411	0.0122	105	c.319 others(112): Show c.319_320insTCTGCTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGC AGCACCACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCC TGTGTCTGTGCAGTCCC	p.Ser others(118): Show p.Ser106_Pro107insLeuCysCysArgProProCysGlyGlnProTh rProCysSerThrThrCysArgThrSerSerCysTerAlaThrThrCysC ysGlnProValSerValGlnSer	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	338/733	319/372	107/123		chr17	TogoVar
KRTAP21-2_chr21_30741794_30752259	30746991	C C	CGGT CGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp2 HG01975.hp2 HG02615.hp1 HG00639.hp2 HG01975.hp2 HG02615.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	3	380	0.0079	3	c.209 others(10): Show c.209_211dupACC	p.Tyr others(14): Show p.Tyr70_Arg71insHis	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding	1/1	268/466	211/252	71/83		chr21	TogoVar
KRTAP4-16_chr17_41096502_41107209	41101561	A A	AGGGGAAA others(71): Show AGGGGAAAGTGAAGGGAGAGAAGGGGAAGGGGAAGGGGGAGGGGATTAAC ACTGGGGAGAGGAGGGGAGGGGAAGGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0000 a0002c0014t0000	a0002c0014t0000g0000 a0002c0014t0000g0000	1	423	0.0024	78	c.648 others(85): Show c.648_649insAGCCCTTCCCCTCCCCTCCTCTCCCCAGTGTTAATCCC CTCCCCCTTCCCCTTCCCCTTCTCTCCCTTCACTTTCCCC	p.Pro others(91): Show p.Pro216_Ser217insSerProSerProProLeuLeuSerProValLe uIleProSerProPheProPheProPheSerProPheThrPhePro	KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding	1/1	648/708	648/708	216/235		chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41101914	A A	AAGCACAC others(113): Show AAGCACACGGAATGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCA GCTGGGGTGGCAGCAGGTCGTCCTGCAGCAGGTGGTCTGACAGCAGCTGG GGCGGCAGCAGGTGGGCTGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0000 a0011c0016t0000	a0011c0016t0000g0000 a0011c0016t0000g0000	1	423	0.0024	120	c.176 others(127): Show c.176_295dupGCCAGCCCACCTGCTGCCGCCCCAGCTGCTGTCAGACC ACCTGCTGCAGGACGACCTGCTGCCACCCCAGCTGCTGTGTGTCCAGCTG CTGCAGACCCCAGTGCTGCCATTCCGTGTGCT	p.Cys others(11): Show p.Cys59_Cys98dup	KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding	1/1	295/708	295/708	99/235		chr17	TogoVar
KRTAP4-2_chr17_41172446_41183221	41177818	T T	TAGCAGGT others(233): Show TAGCAGGTGGTCCTGCAGCAGGTGGTCTGGCCACAGCTGGGGCGGCAGCA GGTGGGCTGGCAGCACACAGACTGGCAGCACTGGGGTCTGAAGCAGCTGG ACACACAGCAGCTGGGACGGCAGCAGGTGGTCCTGCAGCAAGTGGTCTGG CAGCAGCTGGGGCTGCAGCAGGTGGGCTGGCAGCACACAGACTGGCAGCA CTGCGGTCTGCAGCAGCTGGACACACAGCAGCTGGGGCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0000 a0005c0005t0002g0000	1	406	0.0025	240	c.346 others(247): Show c.346_347insGCCGCCCCAGCTGCTGTGTGTCCAGCTGCTGCAGACCG CAGTGCTGCCAGTCTGTGTGCTGCCAGCCCACCTGCTGCAGCCCCAGCTG CTGCCAGACCACTTGCTGCAGGACCACCTGCTGCCGTCCCAGCTGCTGTG TGTCCAGCTGCTTCAGACCCCAGTGCTGCCAGTCTGTGTGCTGCCAGCCC ACCTGCTGCCGCCCCAGCTGTGGCCAGACCACCTGCTGCAGGACCACCTG CT	p.Cys others(253): Show p.Cys115_Tyr116insCysArgProSerCysCysValSerSerCysCy sArgProGlnCysCysGlnSerValCysCysGlnProThrCysCysSerP roSerCysCysGlnThrThrCysCysArgThrThrCysCysArgProSer CysCysValSerSerCysPheArgProGlnCysCysGlnSerValCysCy sGlnProThrCysCysArgProSerCysGlyGlnThrThrCysCysArgT hrThrCys	KRTAP4-2	ENSG00000244537.3	transcript	ENST00000377726.3	protein_coding	1/1	403/776	346/411	116/136		chr17	TogoVar
KRTAP4-3_chr17_41162231_41173221	41167887	T T	TGCAGCAG others(8): Show TGCAGCAGGTGGTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01109.hp1 HG02109.hp1 HG02257.hp2 others(11): Show HG01109.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 NA18906.hp2 NA20129.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0008 a0004c0004 a0008c0008	a0004c0004t0002 a0008c0008t0002 a0004c0004t0002 a0008c0008t0002	a0004c0004t0002g0000 a0008c0008t0002g0000 a0004c0004t0002g0000 a0008c0008t0002g0000	14	410	0.0342	15	c.285 others(22): Show c.285_286insCAGACCACCTGCTGC	p.Cys others(26): Show p.Cys95_Arg96insGlnThrThrCysCys	KRTAP4-3	ENSG00000196156.5	transcript	ENST00000391356.4	protein_coding	1/1	334/991	285/588	95/195		chr17	TogoVar
KRTAP4-3_chr17_41162231_41173221	41167977	T T	TGCAGCAG others(98): Show TGCAGCAGCTGGGTTTGCAGCAGCTGGAGATACAGCAGGAAGGCCTGCAG CAACTGGAAATGCAGCAGCTGGGGCGGCAGCAGGTGGTCCTGCAGCAGGT GGTCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(148): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02300.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0011 a0002c0002 a0010c0011	a0002c0002t0001 a0010c0011t0001 a0002c0002t0001 a0010c0011t0001	a0002c0002t0001g0000 a0010c0011t0001g0000 a0002c0002t0001g0000 a0010c0011t0001g0000	151	410	0.3683	105	c.195 others(112): Show c.195_196insCTGACCACCTGCTGCAGGACCACCTGCTGCCGCCCCAG CTGCTGCATTTCCAGTTGCTGCAGGCCTTCCTGCTGTATCTCCAGCTGCT GCAAACCCAGCTGCTGC	p.Cys others(116): Show p.Cys65_Arg66insLeuThrThrCysCysArgThrThrCysCysArgP roSerCysCysIleSerSerCysCysArgProSerCysCysIleSerSer CysCysLysProSerCysCys	KRTAP4-3	ENSG00000196156.5	transcript	ENST00000391356.4	protein_coding	1/1	244/991	195/588	65/195		chr17	TogoVar
KRTAP4-3_chr17_41162231_41173221	41167977	T T	TGCAGCAG others(98): Show TGCAGCAGCTGGGTTTGCAGCAGCTGGAGATACAGCAGGAAGGCCTGCAG CAACTGGAAATGCAGCAGCTGGGGCGGCAGCAGGTGGTCCTGCAGCAGGT GGTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG02486.hp2 HG02647.hp2 others(7): Show HG02145.hp2 HG02486.hp2 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG03209.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0000 a0005c0005t0003g0000	10	410	0.0244	105	c.91_ others(111): Show c.91_195dupCAGACCACCTGCTGCAGGACCACCTGCTGCCGCCCCAGC TGCTGCATTTCCAGTTGCTGCAGGCCTTCCTGCTGTATCTCCAGCTGCTG CAAACCCAGCTGCTGC	p.Cys others(116): Show p.Cys65_Arg66insGlnThrThrCysCysArgThrThrCysCysArgP roSerCysCysIleSerSerCysCysArgProSerCysCysIleSerSer CysCysLysProSerCysCys	KRTAP4-3	ENSG00000196156.5	transcript	ENST00000391356.4	protein_coding	1/1	244/991	195/588	65/195		chr17	TogoVar
KRTAP4-3_chr17_41162231_41173221	41167977	T T	TGCAGCAG others(8): Show TGCAGCAGGTGGTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01109.hp1 HG01243.hp2 HG02055.hp1 others(28): Show HG01109.hp1 HG01243.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA20129.hp2 NA20300.hp1	a0004 a0006 a0007 others(1): Show a0004 a0006 a0007 a0008	a0004c0004 a0006c0006 a0007c0007 others(1): Show a0004c0004 a0006c0006 a0007c0007 a0008c0008	a0004c0004t0002 a0006c0006t0002 a0007c0007t0002 others(2): Show a0004c0004t0002 a0006c0006t0002 a0007c0007t0002 a0007c0007t0004 a0008c0008t0002	a0004c0004t0002g0000 a0006c0006t0002g0000 a0007c0007t0002g0000 others(2): Show a0004c0004t0002g0000 a0006c0006t0002g0000 a0007c0007t0002g0000 a0007c0007t0004g0000 a0008c0008t0002g0000	31	410	0.0756	15	c.195 others(22): Show c.195_196insCAGACCACCTGCTGC	p.Cys others(26): Show p.Cys65_Arg66insGlnThrThrCysCys	KRTAP4-3	ENSG00000196156.5	transcript	ENST00000391356.4	protein_coding	1/1	244/991	195/588	65/195		chr17	TogoVar
KRTAP4-3_chr17_41162231_41173221	41168028	A A	AACTGGAA others(98): Show AACTGGAAATGCAGCAGCTGGGGCGGCAGCAGGTGGTCCTGCAGCAGGTG GTCTGGCAGCAGCTGGGTTTGCAGCAGCTGGAGATACAGCAGGAAGGCCT GCAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01243.hp2 HG02055.hp2 HG02976.hp2 others(4): Show HG01243.hp2 HG02055.hp2 HG02976.hp2 HG03041.hp2 HG03453.hp2 HG03471.hp2 NA20300.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0004 a0007c0007t0002 a0007c0007t0004	a0007c0007t0002g0000 a0007c0007t0004g0000 a0007c0007t0002g0000 a0007c0007t0004g0000	7	410	0.0171	105	c.144 others(112): Show c.144_145insCGCTGCAGGCCTTCCTGCTGTATCTCCAGCTGCTGCAA ACCCAGCTGCTGCCAGACCACCTGCTGCAGGACCACCTGCTGCCGCCCCA GCTGCTGCATTTCCAGT	p.Ser others(116): Show p.Ser48_Cys49insArgCysArgProSerCysCysIleSerSerCysC ysLysProSerCysCysGlnThrThrCysCysArgThrThrCysCysArg ProSerCysCysIleSerSer	KRTAP4-3	ENSG00000196156.5	transcript	ENST00000391356.4	protein_coding	1/1	193/991	144/588	48/195		chr17	TogoVar
KRTAP4-5_chr17_41143924_41154825	41149523	T T	TGGCAGCA others(8): Show TGGCAGCAGCTGGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(245): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0006 a0007 a0008 a0010 a0012	a0001c0001 a0003c0003 a0004c0004 others(6): Show a0001c0001 a0003c0003 a0004c0004 a0006c0006 a0007c0007 a0008c0008 a0008c0012 a0010c0010 a0012c0013	a0001c0001t0001 a0001c0001t0008 a0003c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0008 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0009 a0004c0004t0001 a0006c0006t0001 a0007c0007t0001 a0008c0008t0001 a0008c0012t0006 a0010c0010t0001 a0012c0013t0001	a0001c0001t0001g0000 a0001c0001t0008g0000 a0003c0003t0001g0000 others(12): Show a0001c0001t0001g0000 a0001c0001t0008g0000 a0003c0003t0001g0000 a0003c0003t0002g0000 a0003c0003t0003g0000 a0003c0003t0004g0000 a0003c0003t0007g0000 a0003c0003t0009g0000 a0004c0004t0001g0000 a0006c0006t0001g0000 a0007c0007t0001g0000 a0008c0008t0001g0000 a0008c0012t0006g0000 a0010c0010t0001g0000 a0012c0013t0001g0000	248	402	0.6169	15	c.244 others(22): Show c.244_245insGCCCCAGCTGCTGCC	p.Cys others(26): Show p.Cys81_Gln82insArgProSerCysCys	KRTAP4-5	ENSG00000198271.5	transcript	ENST00000343246.6	protein_coding	1/1	302/902	244/546	82/181		chr17	TogoVar
KRTAP4-5_chr17_41143924_41154825	41149659	G G	GGCAGCAG others(8): Show GGCAGCAGGTGGTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01175.hp1 HG01175.hp2 HG03710.hp2 HG01175.hp1 HG01175.hp2 HG03710.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0000 a0010c0010t0001g0000	3	402	0.0075	15	c.94_ others(21): Show c.94_108dupAGGACCACCTGCTGC	p.Cys others(26): Show p.Cys36_Arg37insArgThrThrCysCys	KRTAP4-5	ENSG00000198271.5	transcript	ENST00000343246.6	protein_coding	1/1	166/902	108/546	36/181		chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41084540	C C	CCCAGCTG others(143): Show CCCAGCTGCTGCATCTCCAGCTGCTGTCGCCCCAGCTGCTGTGTGTCCAG GTGCTGCAGGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAGCCAACCTGCT GCCGTCCCAGCTGCTGCATCTCCAGCTGCTGCCGCCCCTCTTGCTGTGAA T	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp2 HG03139.hp1 HG02451.hp2 HG03139.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0000 a0010c0011t0001g0000	2	442	0.0045	150	c.345 others(157): Show c.345_346insATCTCCAGCTGCTGTCGCCCCAGCTGCTGTGTGTCCAG GTGCTGCAGGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAGCCAACCTGCT GCCGTCCCAGCTGCTGCATCTCCAGCTGCTGCCGCCCCTCTTGCTGTGAA TCCAGCTGCTGC	p.Cys others(163): Show p.Cys115_Arg116insIleSerSerCysCysArgProSerCysCysVa lSerArgCysCysArgProGlnCysCysGlnSerValCysCysGlnProT hrCysCysArgProSerCysCysIleSerSerCysCysArgProSerCys CysGluSerSerCysCys	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding	1/1	403/995	346/468	116/155	INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41084543	A A	AGCTGCTG others(158): Show AGCTGCTGCATCTCCAGCTGCTGTCGCCCCAGCTGCTGTGTGTCCAGGTG CTGCAGGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAGCCAACCTGCTGCC GTCCCAGCTGCTGCATCTCCAGCTGCTGCCGCCCCTCTTGCTGTGAATCC AGCTGCTGCCGCCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(247): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0008 a0012 a0013 a0014	a0001c0001 a0001c0018 a0003c0003 others(5): Show a0001c0001 a0001c0018 a0003c0003 a0006c0006 a0008c0008 a0012c0015 a0013c0019 a0014c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0018t0001 a0003c0003t0001 a0006c0006t0001 a0008c0008t0001 a0012c0015t0001 a0013c0019t0001 a0014c0016t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(8): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0018t0001g0000 a0003c0003t0001g0000 a0006c0006t0001g0000 a0008c0008t0001g0000 a0012c0015t0001g0000 a0013c0019t0001g0000 a0014c0016t0001g0000	250	442	0.5656	165	c.345 others(172): Show c.345_346insATCTCCAGCTGCTGTCGCCCCAGCTGCTGTGTGTCCAG GTGCTGCAGGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAGCCAACCTGCT GCCGTCCCAGCTGCTGCATCTCCAGCTGCTGCCGCCCCTCTTGCTGTGAA TCCAGCTGCTGCCGCCCATGCTGCTGC	p.Cys others(178): Show p.Cys115_Arg116insIleSerSerCysCysArgProSerCysCysVa lSerArgCysCysArgProGlnCysCysGlnSerValCysCysGlnProT hrCysCysArgProSerCysCysIleSerSerCysCysArgProSerCys CysGluSerSerCysCysArgProCysCysCys	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding	1/1	403/995	346/468	116/155	INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41084544	G G	GCTGCTGC others(83): Show GCTGCTGCATCTCCAGCTGCTGTCGCCCCAGCTGCTGTGTGTCCAGGTGC TGCAGGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAGCCCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01099.hp1 HG01192.hp2 others(12): Show HG00099.hp1 HG01099.hp1 HG01192.hp2 HG01981.hp1 HG02109.hp2 HG02148.hp1 HG02155.hp1 HG02602.hp1 HG02683.hp2 HG03139.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18951.hp2 NA18959.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0000 a0005c0005t0002g0000	15	442	0.0339	90	c.345 others(97): Show c.345_346insATCTCCAGCTGCTGTCGCCCCAGCTGCTGTGTGTCCAG GTGCTGCAGGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAGCCCACCTGCT GC	p.Cys others(103): Show p.Cys115_Arg116insIleSerSerCysCysArgProSerCysCysVa lSerArgCysCysArgProGlnCysCysGlnSerValCysCysGlnProT hrCysCys	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding	1/1	403/995	346/468	116/155	INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTAP4-8_chr17_41091981_41103142	41097673	A A	AGGGGCAG others(98): Show AGGGGCAGCAGCAGCTGGAGATGCTGCAGCTGGGGCGGCAGCAGTTGGGC TGGCAGCACACAGACTGGCAGCACTGGGGCTTGCAGCAGCTGGACACACA GCAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01109.hp2 HG02109.hp2 HG02257.hp1 others(17): Show HG01109.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2	a0004 a0010 a0004 a0010	a0004c0004 a0010c0014 a0004c0004 a0010c0014	a0004c0004t0004 a0010c0014t0004 a0004c0004t0004 a0010c0014t0004	a0004c0004t0004g0000 a0010c0014t0004g0000 a0004c0004t0004g0000 a0010c0014t0004g0000	20	416	0.0481	105	c.411 others(112): Show c.411_412insAGCTGCTGTGTGTCCAGCTGCTGCAAGCCCCAGTGCTG CCAGTCTGTGTGCTGCCAGCCCAACTGCTGCCGCCCCAGCTGCAGCATCT CCAGCTGCTGCTGCCCC	p.Pro others(118): Show p.Pro137_Ser138insSerCysCysValSerSerCysCysLysProGl nCysCysGlnSerValCysCysGlnProAsnCysCysArgProSerCysS erIleSerSerCysCysCysPro	KRTAP4-8	ENSG00000204880.9	transcript	ENST00000333822.5	protein_coding	1/1	469/1162	411/558	137/185		chr17	TogoVar
KRTAP4-8_chr17_41091981_41103142	41097673	A A	AGGGGCGG others(98): Show AGGGGCGGCAGCAGCTGGAGATGCTGCAGCTGGGGCGGCAGCAGTTGGGC TGGCAGCACACAGACTGGCAGCACTGGGGCTTGCAGCAGCTGGACACACA GCAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01243.hp1 HG01884.hp1 HG02055.hp1 others(4): Show HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02976.hp2 HG03041.hp1 HG03471.hp1 NA20300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0009 a0006c0006t0007 a0006c0006t0009	a0006c0006t0007g0000 a0006c0006t0009g0000 a0006c0006t0007g0000 a0006c0006t0009g0000	7	416	0.0168	105	c.307 others(112): Show c.307_411dupAGCTGCTGTGTGTCCAGCTGCTGCAAGCCCCAGTGCTG CCAGTCTGTGTGCTGCCAGCCCAACTGCTGCCGCCCCAGCTGCAGCATCT CCAGCTGCTGCCGCCCC	p.Pro others(118): Show p.Pro137_Ser138insSerCysCysValSerSerCysCysLysProGl nCysCysGlnSerValCysCysGlnProAsnCysCysArgProSerCysS erIleSerSerCysCysArgPro	KRTAP4-8	ENSG00000204880.9	transcript	ENST00000333822.5	protein_coding	1/1	469/1162	411/558	137/185		chr17	TogoVar
KRTAP5-10_chr11_71560563_71571735	71565608	C C	CAGAGGCT others(14): Show CAGAGGCTGTGGCTCCGGCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00642.hp1 HG00733.hp2 HG00735.hp2 others(6): Show HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01257.hp2 HG01346.hp1 HG02738.hp1 HG02738.hp2 HG03491.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0000 a0004c0006t0002g0000	9	468	0.0192	21	c.21_ others(26): Show c.21_22insAGAGGCTGTGGCTCCGGCTGT	p.Ser others(30): Show p.Ser7_Gly8insArgGlyCysGlySerGlyCys	KRTAP5-10	ENSG00000204572.10	transcript	ENST00000398531.3	protein_coding	1/1	47/1173	22/609	8/202		chr11	TogoVar
KRTAP5-1_chr11_1579342_1590283	1584652	C C	CGGAGCGG others(59): Show CGGAGCGGAGCCACAACCCCCCCTTGGATCCCCCACAAGAACCGCAGCCC CCCTTGCAGCCTCCACA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18989.hp2 NA18989.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0000 a0010c0017t0001g0000	1	429	0.0023	66	c.597 others(73): Show c.597_598insTGTGGAGGCTGCAAGGGGGGCTGCGGTTCTTGTGGGGG ATCCAAGGGGGGGTTGTGGCTCCGCTCC	p.Ser others(79): Show p.Ser199_Gly200insCysGlyGlyCysLysGlyGlyCysGlySerCy sGlyGlySerLysGlyGlyLeuTrpLeuArgSer	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding	1/1	631/942	597/837	199/278		chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1629969	A A	AGGCCGTG others(5): Show AGGCCGTGGCTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01074.hp1 HG01175.hp1 HG01256.hp2 others(18): Show HG01074.hp1 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02572.hp2 HG02698.hp1 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA20905.hp1 NA21309.hp2	a0004 a0021 a0004 a0021	a0004c0004 a0021c0022 a0004c0004 a0021c0022	a0004c0004t0001 a0021c0022t0001 a0004c0004t0001 a0021c0022t0001	a0004c0004t0001g0000 a0021c0022t0001g0000 a0004c0004t0001g0000 a0021c0022t0001g0000	21	445	0.0472	12	c.132 others(19): Show c.132_133insCGTGGCTCCGGC	p.Gly others(23): Show p.Gly44_Cys45insArgGlySerGly	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding	1/1	199/1156	133/714	45/237	INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1629969	A A	AGGCCGTG others(152): Show AGGCCGTGGCTCCGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGCTGTG GCTCCGGCTGTGGAGGCCTTGGCTCCGGCTGTGGGGGCTGTGGCTCCGGC TGTGGAGGCCGTGGCTCCGGCTGTGGGGGCTGTGGCTCCGGCTGTGGAGG CTGTGGCTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0000 a0012c0016t0001g0000	2	445	0.0045	159	c.132 others(166): Show c.132_133insCGTGGCTCCGGCTGTGGGGGCTGTGGCTCCGGCTGTGG GGGCTGTGGCTCCGGCTGTGGAGGCCTTGGCTCCGGCTGTGGGGGCTGTG GCTCCGGCTGTGGAGGCCGTGGCTCCGGCTGTGGGGGCTGTGGCTCCGGC TGTGGAGGCTGTGGCTCCGGC	p.Gly others(170): Show p.Gly44_Cys45insArgGlySerGlyCysGlyGlyCysGlySerGlyC ysGlyGlyCysGlySerGlyCysGlyGlyLeuGlySerGlyCysGlyGly CysGlySerGlyCysGlyGlyArgGlySerGlyCysGlyGlyCysGlySe rGlyCysGlyGlyCysGlySerGly	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding	1/1	199/1156	133/714	45/237	INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP6-1_chr21_30608431_30618930	30613810	C C	CAGCCCAG others(14): Show CAGCCCAGGCCTCCATAGCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19055.hp2 NA19055.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0000 a0006c0005t0001g0000	1	380	0.0026	21	c.74_ others(26): Show c.74_94dupATGGCTATGGAGGCCTGGGCT	p.Tyr others(11): Show p.Tyr25_Gly31dup	KRTAP6-1	ENSG00000184724.5	transcript	ENST00000329122.2	protein_coding	1/1	120/500	94/216	32/71		chr21	TogoVar
KRTAP9-1_chr17_41184887_41195639	41190343	T T	TGCTGTGG others(20): Show TGCTGTGGGTCCAGCTGCTGCCAGCCTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(435): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0007c0011 a0008c0007 a0010c0008	a0001c0001t0000 a0001c0009t0000 a0002c0002t0000 others(6): Show a0001c0001t0000 a0001c0009t0000 a0002c0002t0000 a0004c0004t0000 a0005c0005t0000 a0006c0006t0000 a0007c0011t0000 a0008c0007t0000 a0010c0008t0000	a0001c0001t0000g0000 a0001c0009t0000g0000 a0002c0002t0000g0000 others(6): Show a0001c0001t0000g0000 a0001c0009t0000g0000 a0002c0002t0000g0000 a0004c0004t0000g0000 a0005c0005t0000g0000 a0006c0006t0000g0000 a0007c0011t0000g0000 a0008c0007t0000g0000 a0010c0008t0000g0000	438	460	0.9522	27	c.483 others(34): Show c.483_484insAGCTGTGGGTCCAGCTGCTGCCAGCCT	p.Pro others(40): Show p.Pro161_Cys162insSerCysGlySerSerCysCysGlnPro	KRTAP9-1	ENSG00000240542.6	transcript	ENST00000398470.1	protein_coding	1/1	484/753	484/753	162/250	INFO_REALIGN_3_PRIME	chr17	TogoVar
LAMA5_chr20_62304065_62372312	62320836	A A	AGGGCGCC others(8): Show AGGGCGCCGGCCCGTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02040.hp2 HG02040.hp2	a0067 a0067	a0067c0076 a0067c0076	a0067c0076t0001 a0067c0076t0001	a0067c0076t0001g0160 a0067c0076t0001g0160	1	186	0.0054	15	c.653 others(24): Show c.6536_6550dupAACGGGCCGGCGCCC	p.Ala others(30): Show p.Ala2183_Leu2184insGlnArgAlaGlyAla	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	49/80	6617/11426	6550/11088	2184/3695		chr20	TogoVar
LENG9_chr19_54456732_54468778	54462808	G G	GCCT GCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(248): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0010 a0012 a0014 a0016 a0017 a0018	a0001c0001 a0003c0003 a0003c0005 others(12): Show a0001c0001 a0003c0003 a0003c0005 a0003c0012 a0003c0027 a0004c0004 a0004c0006 a0005c0007 a0006c0008 a0010c0015 a0012c0014 a0014c0024 a0016c0021 a0017c0020 a0018c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0008 a0003c0003t0010 a0003c0003t0011 a0003c0003t0013 a0003c0005t0001 a0003c0005t0012 a0003c0012t0001 a0003c0027t0005 a0004c0004t0005 a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 a0005c0007t0001 a0006c0008t0002 a0010c0015t0005 a0012c0014t0001 a0014c0024t0002 a0016c0021t0003 a0017c0020t0002 a0018c0019t0002	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 others(25): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 a0001c0001t0009g0000 a0003c0003t0001g0000 a0003c0003t0002g0000 a0003c0003t0003g0000 a0003c0003t0004g0000 a0003c0003t0008g0000 a0003c0003t0010g0000 a0003c0003t0011g0000 a0003c0003t0013g0000 a0003c0005t0001g0000 a0003c0005t0012g0000 a0003c0012t0001g0000 a0003c0027t0005g0000 a0004c0004t0005g0000 a0004c0006t0001g0000 a0004c0006t0002g0000 a0004c0006t0003g0000 a0005c0007t0001g0000 a0006c0008t0002g0000 a0010c0015t0005g0000 a0012c0014t0001g0000 a0014c0024t0002g0000 a0016c0021t0003g0000 a0017c0020t0002g0000 a0018c0019t0002g0000	251	421	0.5962	3	c.716 others(10): Show c.716_718dupAGG	p.Glu others(6): Show p.Glu239dup	LENG9	ENSG00000275183.2	transcript	ENST00000611161.2	protein_coding	1/1	970/2047	718/1437	240/478		chr19	TogoVar
LHCGR_chr2_48681774_48760724	48755616	G G	GGCTGCA GGCTGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp2 HG00733.hp1 HG01069.hp1 others(33): Show HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp1 NA18522.hp1 NA19030.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0003c0013 a0004c0004 others(1): Show a0003c0003 a0003c0013 a0004c0004 a0005c0008	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(4): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0013t0003 a0004c0004t0001 a0005c0008t0004	a0003c0003t0001g0330 a0003c0003t0001g0353 a0003c0003t0001g0357 others(32): Show a0003c0003t0001g0330 a0003c0003t0001g0353 a0003c0003t0001g0357 a0003c0003t0001g0358 a0003c0003t0002g0340 a0003c0003t0002g0346 a0003c0003t0002g0347 a0003c0003t0002g0354 a0003c0003t0002g0355 a0003c0003t0003g0329 a0003c0003t0003g0331 a0003c0003t0003g0343 a0003c0003t0003g0348 a0003c0003t0003g0360 a0003c0003t0004g0334 a0003c0003t0004g0338 a0003c0003t0004g0342 a0003c0013t0003g0341 a0004c0004t0001g0328 a0004c0004t0001g0332 a0004c0004t0001g0333 a0004c0004t0001g0335 a0004c0004t0001g0336 a0004c0004t0001g0337 a0004c0004t0001g0339 a0004c0004t0001g0344 a0004c0004t0001g0345 a0004c0004t0001g0349 a0004c0004t0001g0350 a0004c0004t0001g0351 a0004c0004t0001g0352 a0004c0004t0001g0356 a0004c0004t0001g0359 a0005c0008t0004g0012 a0005c0008t0004g0361	36	374	0.0963	6	c.50_ others(11): Show c.50_55dupTGCAGC	p.Leu others(11): Show p.Leu17_Gln18dup	LHCGR	ENSG00000138039.15	transcript	ENST00000294954.12	protein_coding	1/11	108/3076	55/2100	19/699		chr2	TogoVar
LIAT1_chr17_405325_419666	413494	C C	CAACCCCG others(23): Show CAACCCCGAGGCCCTCAAGGGCTTCCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp1 HG02818.hp1 NA19043.hp1 HG02055.hp1 HG02818.hp1 NA19043.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0007 a0007c0006t0001g0024 a0007c0006t0001g0007 a0007c0006t0001g0024	3	434	0.0069	30	c.651 others(37): Show c.651_652insAACCCCGAGGCCCTCAAGGGCTTCCACCCT	p.Pro others(43): Show p.Pro217_Asp218insAsnProGluAlaLeuLysGlyPheHisPro	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	670/1841	652/1272	218/423		chr17	TogoVar
LIAT1_chr17_405325_419666	413495	G G	AACCCCGA others(23): Show AACCCCGAGGCCCTCAAGGGCTTCCACCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp1 HG02486.hp1 HG02572.hp2 others(5): Show HG01167.hp1 HG02486.hp1 HG02572.hp2 HG02809.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1	a0007 a0021 a0007 a0021	a0007c0006 a0021c0021 a0007c0006 a0021c0021	a0007c0006t0001 a0021c0021t0001 a0007c0006t0001 a0021c0021t0001	a0007c0006t0001g0007 a0007c0006t0001g0034 a0021c0021t0001g0007 others(1): Show a0007c0006t0001g0007 a0007c0006t0001g0034 a0021c0021t0001g0007 a0021c0021t0001g0035	8	434	0.0184	30	c.651 others(37): Show c.651_652insAACCCCGAGGCCCTCAAGGGCTTCCACCCT	p.Pro others(43): Show p.Pro217_Asp218insAsnProGluAlaLeuLysGlyPheHisPro	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	670/1841	652/1272	218/423		chr17	TogoVar
LIAT1_chr17_405325_419666	413606	T T	TTCCACCC others(23): Show TTCCACCCCGACCCCGAGGCCCTCAAGGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03654.hp2 HG03654.hp2	a0033 a0033	a0033c0034 a0033c0034	a0033c0034t0001 a0033c0034t0001	a0033c0034t0001g0004 a0033c0034t0001g0004	1	434	0.0023	30	c.792 others(37): Show c.792_793insATCCACCCCGACCCCGAGGCCCTCAAGGGC	p.Gly others(43): Show p.Gly264_Phe265insIleHisProAspProGluAlaLeuLysGly	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	811/1841	793/1272	265/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413626	C C	CCTCAAGG others(23): Show CCTCAAGGGCATCCACCCCGACCCCGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG03225.hp2 HG02145.hp2 HG03225.hp2	a0022 a0022	a0022c0018 a0022c0018	a0022c0018t0001 a0022c0018t0001	a0022c0018t0001g0002 a0022c0018t0001g0002	2	434	0.0046	30	c.792 others(37): Show c.792_793insATCCACCCCGACCCCGAGGCTCTCAAGGGC	p.Gly others(43): Show p.Gly264_Phe265insIleHisProAspProGluAlaLeuLysGly	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	811/1841	793/1272	265/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413794	T T	TGACCCCG others(23): Show TGACCCCGAGGCCCTCAAGGGCTTCCACCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01256.hp2 HG01258.hp2 HG01496.hp2 others(4): Show HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG02273.hp1 HG02300.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0001 a0008c0008t0001g0001	7	434	0.0161	30	c.958 others(37): Show c.958_987dupGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Glu others(13): Show p.Glu320_Pro329dup	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	1006/1841	988/1272	330/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIPH_chr3_185501262_185557588	185511534	G G	GGGCAAGG others(14): Show GGGCAAGGGACCTTAACTTCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18953.hp1 NA18953.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0009 a0005c0007t0009	a0005c0007t0009g0145 a0005c0007t0009g0145	1	358	0.0028	21	c.123 others(30): Show c.1237_1257dupATGAAGTTAAGGTCCCTTGCC	p.Ala others(34): Show p.Ala419_His420insMetLysLeuArgSerLeuAla	LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	9/10	1374/4001	1257/1356	419/451		chr3	TogoVar
LMOD3_chr3_69101065_69127595	69118799	T T	TGAGCGTT others(20): Show TGAGCGTTTTGATGACTTCTTTGAGTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18986.hp1 NA18986.hp1	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0015 a0000c0019t0015	a0000c0019t0015g0120 a0000c0019t0015g0120	1	428	0.0023	27	c.155 others(36): Show c.1555_1556insCCACTCAAAGAAGTCATCAAAACGCTC	p.Lys others(39): Show p.Lys519delinsThrThrGlnArgSerHisGlnAsnAlaGln	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/3	1764/4922	1555/1683	519/560		chr3	TogoVar
LOC101059915_chrX_71662546_71676527	71668442	G G	GAGC GAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18968.hp2 NA18968.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0004 a0005c0021t0004	a0005c0021t0004g0013 a0005c0021t0004g0013	1	340	0.0029	3	c.643 others(10): Show c.643_645dupAGC	p.Ser others(6): Show p.Ser215dup	LOC101059915	ENSG00000283599.3	transcript	ENST00000636096.3	protein_coding	1/6	904/1990	646/1557	216/518	INFO_REALIGN_3_PRIME	chrX	TogoVar
LORICRIN_chr1_153254687_153267124	153261139	T T	TGCGGCGG others(11): Show TGCGGCGGGGGCTCCTCCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA21309.hp2 NA21309.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0001 a0015c0016t0001g0001	1	422	0.0024	18	c.202 others(25): Show c.202_219dupTCCTCCGGCGGCGGGGGC	p.Ser others(11): Show p.Ser68_Gly73dup	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding	2/2	290/1245	220/939	74/312	INFO_REALIGN_3_PRIME	chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153261515	A A	ACTCTGGC others(5): Show ACTCTGGCGGCGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(248): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014	a0002c0002 a0002c0005 a0003c0003 others(11): Show a0002c0002 a0002c0005 a0003c0003 a0003c0006 a0004c0004 a0005c0007 a0006c0009 a0007c0010 a0008c0017 a0009c0019 a0010c0018 a0011c0015 a0012c0014 a0014c0011	a0002c0002t0001 a0002c0002t0005 a0002c0005t0001 others(13): Show a0002c0002t0001 a0002c0002t0005 a0002c0005t0001 a0002c0005t0006 a0003c0003t0001 a0003c0006t0001 a0004c0004t0001 a0005c0007t0001 a0006c0009t0001 a0007c0010t0001 a0008c0017t0001 a0009c0019t0001 a0010c0018t0001 a0011c0015t0001 a0012c0014t0001 a0014c0011t0001	a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0005g0001 others(19): Show a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0005g0001 a0002c0005t0001g0001 a0002c0005t0001g0012 a0002c0005t0006g0001 a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0006t0001g0001 a0004c0004t0001g0001 a0004c0004t0001g0009 a0005c0007t0001g0001 a0006c0009t0001g0005 a0007c0010t0001g0001 a0008c0017t0001g0001 a0009c0019t0001g0001 a0010c0018t0001g0001 a0011c0015t0001g0001 a0012c0014t0001g0001 a0014c0011t0001g0005	251	422	0.5948	12	c.574 others(19): Show c.574_585dupGGCGGCTCTGGC	p.Gly others(13): Show p.Gly192_Gly195dup	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding	2/2	656/1245	586/939	196/312	INFO_REALIGN_3_PRIME	chr1	TogoVar
LRP1_chr12_57123483_57218361	57198537	C C	CGTCATCG others(170): Show CGTCATCGTGGACACCCCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCGCAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18984.hp1 NA18984.hp1	a0012 a0012	a0012c0039 a0012c0039	a0012c0039t0002 a0012c0039t0002	a0012c0039t0002g0234 a0012c0039t0002g0234	1	276	0.0036	177	c.955 others(186): Show c.9558_9559insCCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCGCAGCGGTCATCGTGGACACC	p.Thr others(192): Show p.Thr3186_Lys3187insProProLeuProProProProProProPro ProProProProProProProProProProProProProProProProPr oProProProProProProProProProProProProProProProProP roProProProProProProProProAlaAlaValIleValAspThr	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	60/89	10041/14923	9559/13635	3187/4544	INFO_REALIGN_3_PRIME	chr12	TogoVar
LRP5_chr11_68307591_68454275	68312746	C C	CGCT CGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG01070.hp1 HG01071.hp1 others(18): Show HG00140.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG02109.hp2 HG02145.hp1 HG02735.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0003 a0008 a0017 others(1): Show a0003 a0008 a0017 a0018	a0003c0006 a0003c0011 a0003c0012 others(6): Show a0003c0006 a0003c0011 a0003c0012 a0003c0014 a0003c0016 a0003c0024 a0008c0015 a0017c0022 a0018c0023	a0003c0006t0001 a0003c0011t0001 a0003c0012t0001 others(6): Show a0003c0006t0001 a0003c0011t0001 a0003c0012t0001 a0003c0014t0001 a0003c0016t0001 a0003c0024t0001 a0008c0015t0001 a0017c0022t0001 a0018c0023t0001	a0003c0006t0001g0023 a0003c0006t0001g0024 a0003c0006t0001g0031 others(18): Show a0003c0006t0001g0023 a0003c0006t0001g0024 a0003c0006t0001g0031 a0003c0006t0001g0032 a0003c0006t0001g0033 a0003c0006t0001g0034 a0003c0011t0001g0017 a0003c0011t0001g0019 a0003c0011t0001g0151 a0003c0012t0001g0004 a0003c0012t0001g0028 a0003c0012t0001g0029 a0003c0014t0001g0006 a0003c0014t0001g0025 a0003c0016t0001g0003 a0003c0016t0001g0027 a0003c0024t0001g0018 a0008c0015t0001g0021 a0008c0015t0001g0022 a0017c0022t0001g0020 a0018c0023t0001g0026	21	212	0.0991	3	c.58_ others(8): Show c.58_60dupCTG	p.Leu others(5): Show p.Leu20dup	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	1/23	185/5177	61/4848	21/1615	INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP8_chr1_53237364_53333070	53327839	T T	TGCA TGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01516.hp1 HG01943.hp1 NA19065.hp1 HG01516.hp1 HG01943.hp1 NA19065.hp1	a0005 a0005	a0005c0013 a0005c0029 a0005c0013 a0005c0029	a0005c0013t0001 a0005c0013t0025 a0005c0029t0003 a0005c0013t0001 a0005c0013t0025 a0005c0029t0003	a0005c0013t0001g0274 a0005c0013t0025g0273 a0005c0029t0003g0275 a0005c0013t0001g0274 a0005c0013t0025g0273 a0005c0029t0003g0275	3	296	0.0101	3	c.71_ others(8): Show c.71_73dupTGC	p.Leu others(5): Show p.Leu24dup	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	1/19	231/7704	73/2892	25/963		chr1	TogoVar
LRRC43_chr12_122178123_122208471	122200593	A A	AGGGGGAG others(14): Show AGGGGGAGAAAGACAAGAAAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00741.hp2 HG01175.hp1 HG01255.hp1 others(1): Show HG00741.hp2 HG01175.hp1 HG01255.hp1 NA20752.hp2	a0005 a0005	a0005c0011 a0005c0034 a0005c0011 a0005c0034	a0005c0011t0001 a0005c0034t0001 a0005c0011t0001 a0005c0034t0001	a0005c0011t0001g0081 a0005c0011t0001g0153 a0005c0011t0001g0157 others(1): Show a0005c0011t0001g0081 a0005c0011t0001g0153 a0005c0011t0001g0157 a0005c0034t0001g0154	4	390	0.0103	21	c.155 others(30): Show c.1555_1575dupGGGGAGAAAGACAAGAAAGGG	p.Gly others(13): Show p.Gly519_Gly525dup	LRRC43	ENSG00000158113.13	transcript	ENST00000339777.5	protein_coding	9/12	1598/2022	1576/1971	526/656	INFO_REALIGN_3_PRIME	chr12	TogoVar
LTBP3_chr11_65533559_65563359	65557854	C C	CCAG CCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01258.hp1 HG03579.hp2 NA18964.hp1 others(2): Show HG01258.hp1 HG03579.hp2 NA18964.hp1 NA18964.hp2 NA20129.hp2	a0006 a0006	a0006c0009 a0006c0016 a0006c0009 a0006c0016	a0006c0009t0001 a0006c0016t0001 a0006c0009t0001 a0006c0016t0001	a0006c0009t0001g0019 a0006c0009t0001g0065 a0006c0009t0001g0067 others(1): Show a0006c0009t0001g0019 a0006c0009t0001g0065 a0006c0009t0001g0067 a0006c0016t0001g0066	5	316	0.0158	3	c.103 others(10): Show c.103_105dupCTG	p.Leu others(5): Show p.Leu35dup	LTBP3	ENSG00000168056.18	transcript	ENST00000301873.11	protein_coding	1/28	505/4833	105/3912	35/1303		chr11	TogoVar
LTBP3_chr11_65533559_65563359	65557854	C C	CCAGCAG CCAGCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00438.hp1 others(24): Show HG00099.hp1 HG00140.hp1 HG00438.hp1 HG00733.hp1 HG01074.hp2 HG01081.hp1 HG01358.hp1 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG02293.hp2 HG02895.hp1 HG03209.hp1 HG03239.hp2 HG04228.hp1 NA18962.hp2 NA18970.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18999.hp1 NA19002.hp1 NA19082.hp2 NA19084.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0002 a0008 a0012 others(1): Show a0002 a0008 a0012 a0013	a0002c0002 a0008c0012 a0012c0015 others(1): Show a0002c0002 a0008c0012 a0012c0015 a0013c0014	a0002c0002t0001 a0008c0012t0001 a0012c0015t0001 others(1): Show a0002c0002t0001 a0008c0012t0001 a0012c0015t0001 a0013c0014t0001	a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0018 others(19): Show a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0008c0012t0001g0046 a0008c0012t0001g0058 a0012c0015t0001g0062 a0013c0014t0001g0047	27	316	0.0854	6	c.100 others(13): Show c.100_105dupCTGCTG	p.Leu others(11): Show p.Leu34_Leu35dup	LTBP3	ENSG00000168056.18	transcript	ENST00000301873.11	protein_coding	1/28	505/4833	105/3912	35/1303		chr11	TogoVar

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Search Results (Total: 1973 hits)