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
IQSEC3_chr12_61767_183455	139085	A A	AGAG AGAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00673.hp1 HG02074.hp2 NA18986.hp2 HG00673.hp1 HG02074.hp2 NA18986.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0003 a0010c0014t0001 a0010c0014t0003	a0010c0014t0001g0076 a0010c0014t0003g0002 a0010c0014t0003g0043 a0010c0014t0001g0076 a0010c0014t0003g0002 a0010c0014t0003g0043	3	282	0.0106	3	c.173 others(12): Show c.1735_1737dupGAG	p.Glu others(6): Show p.Glu579dup	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	4/14	1854/7087	1738/3549	580/1182	INFO_REALIGN_3_PRIME	chr12	TogoVar
IRF2BP2_chr1_234599269_234615178	234609199	A A	AGCT AGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01099.hp2 HG01358.hp1 HG01884.hp1 others(18): Show HG01099.hp2 HG01358.hp1 HG01884.hp1 HG02135.hp2 HG02280.hp1 HG02300.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1	a0003 a0003	a0003c0007 a0003c0008 a0003c0007 a0003c0008	a0003c0007t0003 a0003c0007t0044 a0003c0007t0046 others(2): Show a0003c0007t0003 a0003c0007t0044 a0003c0007t0046 a0003c0007t0047 a0003c0008t0002	a0003c0007t0003g0006 a0003c0007t0044g0068 a0003c0007t0046g0069 others(2): Show a0003c0007t0003g0006 a0003c0007t0044g0068 a0003c0007t0046g0069 a0003c0007t0047g0070 a0003c0008t0002g0008	21	420	0.0500	3	c.293 others(10): Show c.293_295dupAGC	p.Gln others(5): Show p.Gln98dup	IRF2BP2	ENSG00000168264.11	transcript	ENST00000366609.4	protein_coding	1/2	979/5316	295/1764	99/587		chr1	TogoVar
IRS1_chr2_226726312_226804820	226796091	G G	GGCT GGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18978.hp1 NA18982.hp1 NA19078.hp1 NA18978.hp1 NA18982.hp1 NA19078.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0099 a0004c0007t0001g0100 a0004c0007t0001g0101 a0004c0007t0001g0099 a0004c0007t0001g0100 a0004c0007t0001g0101	3	278	0.0108	3	c.264 others(12): Show c.2645_2647dupAGC	p.Gln others(6): Show p.Gln882dup	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/2	3729/9771	2647/3729	883/1242		chr2	TogoVar
IVL_chr1_152903546_152916886	152910325	G G	GGAGCAGC others(23): Show GGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00738.hp2 HG01361.hp2 HG01433.hp1 others(31): Show HG00738.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp2	a0004 a0015 a0022 others(3): Show a0004 a0015 a0022 a0030 a0031 a0036	a0004c0004 a0015c0015 a0022c0022 others(3): Show a0004c0004 a0015c0015 a0022c0022 a0030c0039 a0031c0040 a0036c0031	a0004c0004t0002 a0015c0015t0002 a0015c0015t0004 others(4): Show a0004c0004t0002 a0015c0015t0002 a0015c0015t0004 a0022c0022t0001 a0030c0039t0002 a0031c0040t0002 a0036c0031t0001	a0004c0004t0002g0003 a0004c0004t0002g0004 a0004c0004t0002g0010 others(6): Show a0004c0004t0002g0003 a0004c0004t0002g0004 a0004c0004t0002g0010 a0015c0015t0002g0003 a0015c0015t0004g0003 a0022c0022t0001g0001 a0030c0039t0002g0003 a0031c0040t0002g0003 a0036c0031t0001g0001	34	426	0.0798	30	c.679 others(37): Show c.679_708dupGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	p.Glu others(13): Show p.Glu227_Pro236dup	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	772/2152	709/1758	237/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910325	G G	GGAGCAGC others(53): Show GGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGC TGGAGCTCCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp1 HG02280.hp1 HG02615.hp2 HG02145.hp1 HG02280.hp1 HG02615.hp2	a0019 a0029 a0019 a0029	a0019c0024 a0029c0038 a0019c0024 a0029c0038	a0019c0024t0002 a0029c0038t0002 a0019c0024t0002 a0029c0038t0002	a0019c0024t0002g0009 a0029c0038t0002g0009 a0019c0024t0002g0009 a0029c0038t0002g0009	3	426	0.0070	60	c.649 others(67): Show c.649_708dupGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCA GGAGGGGCAGCTGGAGCTCCCA	p.Glu others(13): Show p.Glu217_Pro236dup	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	772/2152	709/1758	237/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910325	G G	GGAGCAGC others(83): Show GGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGC TGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp1 HG01496.hp1 HG01943.hp1 others(13): Show HG00621.hp1 HG01496.hp1 HG01943.hp1 HG01981.hp1 HG02258.hp1 NA18612.hp2 NA18960.hp2 NA18971.hp2 NA18973.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19058.hp1 NA19078.hp2 NA19089.hp2 NA19091.hp2	a0005 a0028 a0005 a0028	a0005c0006 a0028c0037 a0005c0006 a0028c0037	a0005c0006t0002 a0005c0006t0008 a0028c0037t0004 a0005c0006t0002 a0005c0006t0008 a0028c0037t0004	a0005c0006t0002g0004 a0005c0006t0008g0004 a0028c0037t0004g0003 a0005c0006t0002g0004 a0005c0006t0008g0004 a0028c0037t0004g0003	16	426	0.0376	90	c.619 others(97): Show c.619_708dupGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCA GGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCC CA	p.Glu others(13): Show p.Glu207_Pro236dup	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	772/2152	709/1758	237/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910325	G G	GGAGCAGG others(23): Show GGAGCAGGAGGAGGGGCAGCTGGAGCTCCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02809.hp2 HG03516.hp2 HG02809.hp2 HG03516.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0002 a0018c0026t0002	a0018c0026t0002g0003 a0018c0026t0002g0003	2	426	0.0047	30	c.534 others(37): Show c.534_535insGAGGAGGGGCAGCTGGAGCTCCCAGAGCAG	p.Gln others(43): Show p.Gln178_Gln179insGluGluGlyGlnLeuGluLeuProGluGln	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	598/2152	535/1758	179/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910325	G G	GGAGCAGG others(53): Show GGAGCAGGAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGC TGGAGCTCCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02922.hp1 HG02922.hp1	a0027 a0027	a0027c0044 a0027c0044	a0027c0044t0002 a0027c0044t0002	a0027c0044t0002g0019 a0027c0044t0002g0019	1	426	0.0024	60	c.534 others(67): Show c.534_535insGAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGG GCAGCTGGAGCTCCCAGAGCAG	p.Gln others(73): Show p.Gln178_Gln179insGluGluGlyGlnLeuGluLeuProGluGlnGl nGluGlyGlnLeuGluLeuProGluGln	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	598/2152	535/1758	179/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910476	G G	CAGCAGCA others(23): Show CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01123.hp2 HG01123.hp2	a0039 a0039	a0039c0027 a0039c0027	a0039c0027t0001 a0039c0027t0001	a0039c0027t0001g0001 a0039c0027t0001g0001	1	426	0.0024	30	c.678 others(37): Show c.678_679insCAGCAGCAGGAGGGGCAGCTGGAGCTCTCT	p.Pro others(43): Show p.Pro226_Glu227insGlnGlnGlnGluGlyGlnLeuGluLeuSer	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	742/2152	679/1758	227/585		chr1	TogoVar
IVL_chr1_152903546_152916886	152910505	A A	AGAGCAGC others(23): Show AGAGCAGCAGGAGGGGCAGCTGGAGCTCTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(110): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01106.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19059.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19076.hp2 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1	a0001 a0010 a0017 others(1): Show a0001 a0010 a0017 a0033	a0001c0001 a0001c0042 a0001c0045 others(3): Show a0001c0001 a0001c0042 a0001c0045 a0010c0011 a0017c0017 a0033c0041	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0042t0002 a0001c0045t0003 a0010c0011t0002 a0017c0017t0002 a0033c0041t0002	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0003g0002 a0001c0001t0009g0002 a0001c0042t0002g0002 a0001c0045t0003g0002 a0010c0011t0002g0002 a0017c0017t0002g0002 a0033c0041t0002g0002	113	426	0.2653	30	c.708 others(37): Show c.708_709insGAGCAGCAGGAGGGGCAGCTGGAGCTCTCT	p.Pro others(43): Show p.Pro236_Gln237insGluGlnGlnGluGlyGlnLeuGluLeuSer	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	772/2152	709/1758	237/585		chr1	TogoVar
IVL_chr1_152903546_152916886	152910505	A A	AGAGCAGC others(53): Show AGAGCAGCAGGAGGGGCAGCTGGAGCTCTCTGAGCAGCAGGAGGGGCAGC TGGAGCTCTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01981.hp2 NA18948.hp1 NA18979.hp1 others(2): Show HG01981.hp2 NA18948.hp1 NA18979.hp1 NA19007.hp1 NA19079.hp2	a0016 a0032 a0016 a0032	a0016c0016 a0032c0043 a0016c0016 a0032c0043	a0016c0016t0002 a0032c0043t0002 a0016c0016t0002 a0032c0043t0002	a0016c0016t0002g0002 a0032c0043t0002g0002 a0016c0016t0002g0002 a0032c0043t0002g0002	5	426	0.0117	60	c.708 others(67): Show c.708_709insGAGCAGCAGGAGGGGCAGCTGGAGCTCTCTGAGCAGCA GGAGGGGCAGCTGGAGCTCTCT	p.Pro others(73): Show p.Pro236_Gln237insGluGlnGlnGluGlyGlnLeuGluLeuSerGl uGlnGlnGluGlyGlnLeuGluLeuSer	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	772/2152	709/1758	237/585		chr1	TogoVar
IVL_chr1_152903546_152916886	152910982	C C	CCTGGTGC others(23): Show CCTGGTGCAGCAGGAGGGGCAGCTGAAGCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00673.hp1 HG00673.hp1	a0033 a0033	a0033c0041 a0033c0041	a0033c0041t0002 a0033c0041t0002	a0033c0041t0002g0002 a0033c0041t0002g0002	1	426	0.0024	30	c.121 others(39): Show c.1210_1239dupAAGCATCTGGTGCAGCAGGAGGGGCAGCTG	p.Lys others(13): Show p.Lys404_Leu413dup	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	1303/2152	1240/1758	414/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IZUMO3_chr9_24537952_24550897	24545645	C C	CCCATTTC others(56): Show CCCATTTCTTTCTTCACCCCCGCTCCCCGACAGCAGGTTGTCCTGGCAAC TACTTCACTTAGTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18953.hp1 NA18953.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0070 a0006c0007t0002g0070	1	426	0.0024	63	c.4_5 others(66): Show c.4_5insAACTAAGTGAAGTAGTTGCCAGGACAACCTGCTGTCGGGGAG CGGGGGTGAAGAAAGAAATGG	p.Met others(72): Show p.Met1_Gly2insGluLeuSerGluValValAlaArgThrThrCysCys ArgGlyAlaGlyValLysLysGluMet	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding	1/7	252/1245	4/720	2/239		chr9	TogoVar
JUP_chr17_41749609_41791711	41755842	G G	GCGGGTCA others(74): Show GCGGGTCAAGGGGCACATCGCTGGAGTACATGGGGCGGTAGGTGGCATCC ATGTCTGGGGACAAAAAGTGGGGCTCGGTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00408.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0004 a0006c0018t0004	a0006c0018t0004g0057 a0006c0018t0004g0057	1	410	0.0024	81	c.208 others(93): Show c.2087-28_2139dupAGGACCGAGCCCCACTTTTTGTCCCCAGACATG GATGCCACCTACCGCCCCATGTACTCCAGCGATGTGCCCCTTGACCCG	p.Pro others(94): Show p.Pro713_Leu714insArgThrGluProHisPheLeuSerProAspMe tAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspPro	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding	14/14	2271/3505	2139/2238	713/745		chr17	TogoVar
KAT2A_chr17_42108111_42126367	42120260	T T	TCACCTTG others(29): Show TCACCTTGAAGAGGTAGAAGAGATTCAGACCTTCTTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0049 a0004c0008t0001g0049	1	354	0.0028	36	c.573 others(43): Show c.573_574insCAAGAAGGTCTGAATCTCTTCTACCTCTTCAAGGTG	p.Asp others(49): Show p.Asp191_Thr192insGlnGluGlyLeuAsnLeuPheTyrLeuPheLy sVal	KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding	3/18	636/3115	573/2514	191/837		chr17	TogoVar
KCNA3_chr1_110667465_110679940	110674559	T T	TCGCAGCC others(8): Show TCGCAGCCGCCGCCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0000 a0002c0005t0002g0000	1	432	0.0023	15	c.236 others(22): Show c.236_250dupGCGGCGGCGGCTGCG	p.Gly others(11): Show p.Gly79_Cys83dup	KCNA3	ENSG00000177272.10	transcript	ENST00000369769.4	protein_coding	1/1	381/2476	250/1728	84/575		chr1	TogoVar
KCNG4_chr16_84213657_84245012	84236959	G G	GCCAGCTC others(2): Show GCCAGCTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp2 HG00423.hp2 HG02083.hp2 others(8): Show HG00280.hp2 HG00423.hp2 HG02083.hp2 HG02135.hp2 HG02280.hp2 HG02451.hp1 HG02896.hp2 NA18906.hp2 NA18975.hp1 NA19079.hp2 NA19087.hp1	a0012 a0013 a0017 others(1): Show a0012 a0013 a0017 a0036	a0012c0018 a0013c0021 a0017c0025 others(1): Show a0012c0018 a0013c0021 a0017c0025 a0036c0053	a0012c0018t0002 a0012c0018t0017 a0013c0021t0003 others(5): Show a0012c0018t0002 a0012c0018t0017 a0013c0021t0003 a0013c0021t0040 a0013c0021t0090 a0017c0025t0005 a0017c0025t0028 a0036c0053t0017	a0012c0018t0002g0025 a0012c0018t0002g0123 a0012c0018t0002g0125 others(7): Show a0012c0018t0002g0025 a0012c0018t0002g0123 a0012c0018t0002g0125 a0012c0018t0017g0124 a0013c0021t0003g0294 a0013c0021t0040g0305 a0013c0021t0090g0132 a0017c0025t0005g0330 a0017c0025t0028g0081 a0036c0053t0017g0126	11	472	0.0233	9	c.518 others(16): Show c.518_526dupAGGAGCTGG	p.Glu others(13): Show p.Glu173_Leu175dup	KCNG4	ENSG00000168418.8	transcript	ENST00000308251.6	protein_coding	2/3	909/5503	526/1560	176/519		chr16	TogoVar
KCNK15_chr20_44740865_44757313	44750598	C C	CGACTGGC others(104): Show CGACTGGCCCGAGCGCGCTGCCCGCCCCCCCAGCCCGCGCCCCCCGGGGG CGCCCGAGAGCCGTGGCCTCTGGCTGCCCCGCCGCCCGGCCCGCTCCGTG GGCTCCGCCTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp2 HG02735.hp1 NA20905.hp2 HG00323.hp2 HG02735.hp1 NA20905.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0017 a0007c0007t0001g0017	3	422	0.0071	111	c.777 others(118): Show c.777_778insCCCCCCAGCCCGCGCCCCCCGGGGGCGCCCGAGAGCCG TGGCCTCTGGCTGCCCCGCCGCCCGGCCCGCTCCGTGGGCTCCGCCTCTG ACTGGCCCGAGCGCGCTGCCCGC	p.Arg others(124): Show p.Arg259_Thr260insProProSerProArgProProGlyAlaProGl uSerArgGlyLeuTrpLeuProArgArgProAlaArgSerValGlySerA laSerAspTrpProGluArgAlaAlaArg	KCNK15	ENSG00000124249.7	transcript	ENST00000372861.5	protein_coding	2/2	824/2514	778/993	260/330	INFO_REALIGN_3_PRIME	chr20	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCT GGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01099.hp2 HG02451.hp1 HG02723.hp1 others(1): Show HG01099.hp2 HG02451.hp1 HG02723.hp1 HG03139.hp2	a0009 a0009	a0009c0029 a0009c0030 a0009c0029 a0009c0030	a0009c0029t0015 a0009c0029t0026 a0009c0030t0005 others(1): Show a0009c0029t0015 a0009c0029t0026 a0009c0030t0005 a0009c0030t0033	a0009c0029t0015g0194 a0009c0029t0026g0192 a0009c0030t0005g0193 others(1): Show a0009c0029t0015g0194 a0009c0029t0026g0192 a0009c0030t0005g0193 a0009c0030t0033g0191	4	238	0.0168	3	c.239 others(10): Show c.239_241dupAGC	p.Gln others(5): Show p.Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCT GGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02004.hp1 HG02257.hp2 HG03453.hp2 others(1): Show HG02004.hp1 HG02257.hp2 HG03453.hp2 NA19091.hp2	a0010 a0010	a0010c0018 a0010c0034 a0010c0018 a0010c0034	a0010c0018t0009 a0010c0018t0012 a0010c0018t0091 others(1): Show a0010c0018t0009 a0010c0018t0012 a0010c0018t0091 a0010c0034t0013	a0010c0018t0009g0189 a0010c0018t0012g0188 a0010c0018t0091g0190 others(1): Show a0010c0018t0009g0189 a0010c0018t0012g0188 a0010c0018t0091g0190 a0010c0034t0013g0187	4	238	0.0168	6	c.236 others(13): Show c.236_241dupAGCAGC	p.Gln others(11): Show p.Gln79_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(2): Show GGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00735.hp1 HG00738.hp1 HG00738.hp2 others(32): Show HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01109.hp1 HG01257.hp2 HG02055.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0007 a0003c0028 a0003c0003 a0003c0007 a0003c0028	a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 others(27): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0010 a0003c0003t0013 a0003c0003t0026 a0003c0003t0031 a0003c0003t0035 a0003c0003t0040 a0003c0003t0048 a0003c0003t0075 a0003c0003t0085 a0003c0003t0096 a0003c0003t0099 a0003c0003t0101 a0003c0003t0102 a0003c0003t0109 a0003c0003t0111 a0003c0003t0114 a0003c0003t0115 a0003c0007t0005 a0003c0007t0011 a0003c0007t0020 a0003c0007t0045 a0003c0007t0076 a0003c0007t0105 a0003c0007t0113 a0003c0007t0116 a0003c0028t0007 a0003c0028t0078	a0003c0003t0001g0169 a0003c0003t0001g0183 a0003c0003t0003g0185 others(32): Show a0003c0003t0001g0169 a0003c0003t0001g0183 a0003c0003t0003g0185 a0003c0003t0006g0159 a0003c0003t0006g0167 a0003c0003t0010g0168 a0003c0003t0013g0170 a0003c0003t0026g0181 a0003c0003t0031g0003 a0003c0003t0035g0182 a0003c0003t0040g0184 a0003c0003t0048g0161 a0003c0003t0075g0162 a0003c0003t0085g0158 a0003c0003t0096g0171 a0003c0003t0099g0179 a0003c0003t0101g0165 a0003c0003t0102g0173 a0003c0003t0109g0163 a0003c0003t0111g0232 a0003c0003t0114g0233 a0003c0003t0115g0236 a0003c0007t0005g0175 a0003c0007t0005g0176 a0003c0007t0005g0177 a0003c0007t0011g0180 a0003c0007t0011g0186 a0003c0007t0020g0160 a0003c0007t0045g0172 a0003c0007t0076g0178 a0003c0007t0105g0166 a0003c0007t0113g0234 a0003c0007t0116g0235 a0003c0028t0007g0174 a0003c0028t0078g0164	35	238	0.1471	9	c.233 others(16): Show c.233_241dupAGCAGCAGC	p.Gln others(11): Show p.Gln78_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(5): Show GGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp2 HG01074.hp1 HG01106.hp2 others(39): Show HG00323.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02486.hp2 HG02698.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03688.hp2 HG04199.hp2 NA18906.hp2 NA18944.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0002 a0019 a0002 a0019	a0002c0002 a0002c0009 a0002c0010 others(1): Show a0002c0002 a0002c0009 a0002c0010 a0019c0039	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(32): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0017 a0002c0002t0029 a0002c0002t0034 a0002c0002t0047 a0002c0002t0052 a0002c0002t0055 a0002c0002t0073 a0002c0002t0074 a0002c0002t0077 a0002c0002t0084 a0002c0002t0089 a0002c0002t0090 a0002c0002t0117 a0002c0009t0001 a0002c0009t0003 a0002c0009t0037 a0002c0009t0051 a0002c0009t0106 a0002c0009t0118 a0002c0009t0119 a0002c0010t0019 a0002c0010t0088 a0002c0010t0095 a0002c0010t0110 a0002c0010t0112 a0002c0010t0120 a0019c0039t0003	a0002c0002t0001g0125 a0002c0002t0003g0124 a0002c0002t0003g0134 others(39): Show a0002c0002t0001g0125 a0002c0002t0003g0124 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0003g0145 a0002c0002t0004g0151 a0002c0002t0005g0143 a0002c0002t0009g0147 a0002c0002t0009g0148 a0002c0002t0010g0149 a0002c0002t0011g0123 a0002c0002t0012g0135 a0002c0002t0012g0144 a0002c0002t0017g0122 a0002c0002t0029g0129 a0002c0002t0029g0130 a0002c0002t0034g0136 a0002c0002t0047g0138 a0002c0002t0052g0139 a0002c0002t0055g0127 a0002c0002t0073g0146 a0002c0002t0074g0157 a0002c0002t0077g0153 a0002c0002t0084g0126 a0002c0002t0089g0152 a0002c0002t0090g0140 a0002c0002t0117g0227 a0002c0009t0001g0150 a0002c0009t0003g0156 a0002c0009t0037g0141 a0002c0009t0051g0155 a0002c0009t0106g0132 a0002c0009t0118g0231 a0002c0009t0119g0229 a0002c0010t0019g0128 a0002c0010t0019g0154 a0002c0010t0088g0131 a0002c0010t0095g0142 a0002c0010t0110g0133 a0002c0010t0112g0230 a0002c0010t0120g0228 a0019c0039t0003g0226	42	238	0.1765	12	c.230 others(19): Show c.230_241dupAGCAGCAGCAGC	p.Gln others(11): Show p.Gln77_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(8): Show GGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00280.hp2 HG00621.hp2 others(67): Show HG00140.hp1 HG00280.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02559.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02818.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 NA18945.hp2 NA18954.hp2 NA18964.hp1 NA18970.hp1 NA18975.hp1 NA18983.hp1 NA18983.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19060.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0012c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0042 a0001c0001t0043 a0001c0001t0053 a0001c0001t0057 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0070 a0001c0001t0072 a0001c0001t0083 a0001c0001t0107 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0004t0009 a0001c0004t0015 a0001c0004t0016 a0001c0004t0024 a0001c0004t0060 a0001c0004t0062 a0001c0008t0001 a0001c0008t0002 a0001c0008t0005 a0001c0008t0008 a0001c0008t0014 a0001c0008t0018 a0001c0008t0049 a0001c0008t0081 a0012c0022t0036 a0012c0022t0041	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 others(67): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0090 a0001c0001t0002g0099 a0001c0001t0002g0111 a0001c0001t0004g0110 a0001c0001t0008g0059 a0001c0001t0010g0079 a0001c0001t0013g0116 a0001c0001t0014g0086 a0001c0001t0016g0063 a0001c0001t0018g0105 a0001c0001t0018g0106 a0001c0001t0019g0069 a0001c0001t0021g0065 a0001c0001t0023g0060 a0001c0001t0025g0095 a0001c0001t0027g0097 a0001c0001t0028g0101 a0001c0001t0032g0077 a0001c0001t0042g0113 a0001c0001t0043g0075 a0001c0001t0053g0073 a0001c0001t0057g0066 a0001c0001t0063g0087 a0001c0001t0064g0104 a0001c0001t0065g0068 a0001c0001t0066g0074 a0001c0001t0070g0093 a0001c0001t0072g0071 a0001c0001t0083g0076 a0001c0001t0107g0107 a0001c0004t0001g0054 a0001c0004t0001g0088 a0001c0004t0001g0092 a0001c0004t0001g0094 a0001c0004t0001g0098 a0001c0004t0001g0120 a0001c0004t0002g0056 a0001c0004t0004g0082 a0001c0004t0004g0085 a0001c0004t0008g0067 a0001c0004t0008g0084 a0001c0004t0009g0112 a0001c0004t0015g0080 a0001c0004t0015g0100 a0001c0004t0016g0070 a0001c0004t0024g0083 a0001c0004t0060g0102 a0001c0004t0062g0109 a0001c0008t0001g0089 a0001c0008t0001g0096 a0001c0008t0001g0108 a0001c0008t0002g0081 a0001c0008t0005g0064 a0001c0008t0008g0061 a0001c0008t0014g0055 a0001c0008t0018g0115 a0001c0008t0049g0103 a0001c0008t0081g0118 a0012c0022t0036g0004 a0012c0022t0041g0005	70	238	0.2941	15	c.227 others(22): Show c.227_241dupAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln76_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(11): Show GGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp1 HG00621.hp1 HG00741.hp1 others(25): Show HG00323.hp1 HG00621.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01168.hp1 HG01175.hp1 HG02083.hp2 HG02630.hp1 HG02738.hp2 HG03486.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18945.hp1 NA18954.hp1 NA18964.hp2 NA18975.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0005 a0004c0006 a0004c0014 a0004c0005 a0004c0006 a0004c0014	a0004c0005t0001 a0004c0005t0004 a0004c0005t0007 others(21): Show a0004c0005t0001 a0004c0005t0004 a0004c0005t0007 a0004c0005t0014 a0004c0005t0023 a0004c0005t0025 a0004c0005t0038 a0004c0005t0039 a0004c0005t0061 a0004c0005t0067 a0004c0005t0092 a0004c0006t0001 a0004c0006t0002 a0004c0006t0004 a0004c0006t0007 a0004c0006t0008 a0004c0006t0017 a0004c0006t0020 a0004c0006t0024 a0004c0006t0050 a0004c0014t0001 a0004c0014t0006 a0004c0014t0056 a0004c0014t0087	a0004c0005t0001g0053 a0004c0005t0004g0043 a0004c0005t0004g0049 others(25): Show a0004c0005t0001g0053 a0004c0005t0004g0043 a0004c0005t0004g0049 a0004c0005t0007g0038 a0004c0005t0014g0044 a0004c0005t0023g0048 a0004c0005t0025g0030 a0004c0005t0038g0033 a0004c0005t0039g0046 a0004c0005t0061g0051 a0004c0005t0067g0050 a0004c0005t0092g0029 a0004c0006t0001g0032 a0004c0006t0001g0035 a0004c0006t0002g0026 a0004c0006t0002g0041 a0004c0006t0004g0028 a0004c0006t0007g0031 a0004c0006t0008g0034 a0004c0006t0008g0040 a0004c0006t0017g0045 a0004c0006t0020g0037 a0004c0006t0024g0042 a0004c0006t0050g0036 a0004c0014t0001g0047 a0004c0014t0006g0039 a0004c0014t0056g0027 a0004c0014t0087g0052	28	238	0.1177	18	c.224 others(25): Show c.224_241dupAGCAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln75_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(14): Show GGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp1 HG01517.hp2 HG01884.hp1 others(10): Show HG01081.hp1 HG01517.hp2 HG01884.hp1 HG02056.hp2 HG02109.hp2 HG02165.hp2 HG03130.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA18955.hp1 NA18955.hp2 NA18970.hp2	a0006 a0018 a0006 a0018	a0006c0012 a0006c0013 a0006c0027 others(1): Show a0006c0012 a0006c0013 a0006c0027 a0018c0033	a0006c0012t0001 a0006c0012t0005 a0006c0012t0009 others(10): Show a0006c0012t0001 a0006c0012t0005 a0006c0012t0009 a0006c0012t0030 a0006c0012t0104 a0006c0013t0001 a0006c0013t0006 a0006c0013t0017 a0006c0013t0020 a0006c0013t0054 a0006c0027t0010 a0006c0027t0059 a0018c0033t0001	a0006c0012t0001g0016 a0006c0012t0005g0019 a0006c0012t0009g0015 others(10): Show a0006c0012t0001g0016 a0006c0012t0005g0019 a0006c0012t0009g0015 a0006c0012t0030g0002 a0006c0012t0104g0023 a0006c0013t0001g0018 a0006c0013t0006g0024 a0006c0013t0017g0021 a0006c0013t0020g0020 a0006c0013t0054g0022 a0006c0027t0010g0014 a0006c0027t0059g0017 a0018c0033t0001g0025	13	238	0.0546	21	c.221 others(28): Show c.221_241dupAGCAGCAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln74_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(17): Show GGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG03098.hp2 HG00140.hp2 HG03098.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0016 a0013c0026t0028 a0013c0026t0016 a0013c0026t0028	a0013c0026t0016g0013 a0013c0026t0028g0012 a0013c0026t0016g0013 a0013c0026t0028g0012	2	238	0.0084	24	c.218 others(31): Show c.218_241dupAGCAGCAGCAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln73_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(20): Show GGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp2 HG02683.hp1 HG02976.hp2 others(1): Show HG02055.hp2 HG02683.hp1 HG02976.hp2 NA19060.hp1	a0011 a0011	a0011c0024 a0011c0025 a0011c0024 a0011c0025	a0011c0024t0068 a0011c0024t0121 a0011c0025t0011 others(1): Show a0011c0024t0068 a0011c0024t0121 a0011c0025t0011 a0011c0025t0103	a0011c0024t0068g0010 a0011c0024t0121g0237 a0011c0025t0011g0011 others(1): Show a0011c0024t0068g0010 a0011c0024t0121g0237 a0011c0025t0011g0011 a0011c0025t0103g0009	4	238	0.0168	27	c.215 others(34): Show c.215_241dupAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln72_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(23): Show GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0004 a0014c0023t0021 a0014c0023t0004 a0014c0023t0021	a0014c0023t0004g0008 a0014c0023t0021g0007 a0014c0023t0004g0008 a0014c0023t0021g0007	2	238	0.0084	30	c.212 others(37): Show c.212_241dupAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln71_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731		chr1	TogoVar
KCNQ1_chr11_2440008_2854105	2445250	A A	ACGCGCCC others(2): Show ACGCGCCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp1 HG03041.hp2 HG03225.hp1 others(1): Show HG02258.hp1 HG03041.hp2 HG03225.hp1 HG03579.hp1	a0003 a0003	a0003c0006 a0003c0010 a0003c0006 a0003c0010	a0003c0006t0001 a0003c0006t0004 a0003c0006t0010 others(1): Show a0003c0006t0001 a0003c0006t0004 a0003c0006t0010 a0003c0010t0001	a0003c0006t0001g0008 a0003c0006t0004g0011 a0003c0006t0010g0012 others(1): Show a0003c0006t0001g0008 a0003c0006t0004g0011 a0003c0006t0010g0012 a0003c0010t0001g0009	4	208	0.0192	9	c.160 others(16): Show c.160_168dupATCGCGCCC	p.Ile others(11): Show p.Ile54_Pro56dup	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/16	260/3224	169/2031	57/676	INFO_REALIGN_3_PRIME	chr11	TogoVar
KCP_chr7_128871865_128915709	128891497	G G	GCTC GCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2	a0019 a0019	a0019c0018 a0019c0018	a0019c0018t0001 a0019c0018t0002 a0019c0018t0001 a0019c0018t0002	a0019c0018t0001g0209 a0019c0018t0001g0281 a0019c0018t0002g0206 a0019c0018t0001g0209 a0019c0018t0001g0281 a0019c0018t0002g0206	3	372	0.0081	3	c.182 others(12): Show c.1829_1831dupGAG	p.Gly others(6): Show p.Gly610dup	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	18/40	1864/5098	1831/4887	611/1628		chr7	TogoVar
KIAA0040_chr1_175151986_175197776	175160788	C C	CCTT CCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00438.hp1 HG00544.hp2 others(68): Show HG00099.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01168.hp2 HG01175.hp2 HG01515.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18987.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0015 a0003c0003t0016 others(7): Show a0003c0003t0002 a0003c0003t0015 a0003c0003t0016 a0003c0003t0025 a0003c0003t0039 a0003c0003t0040 a0003c0003t0041 a0003c0003t0042 a0003c0003t0043 a0003c0003t0044	a0003c0003t0002g0005 a0003c0003t0002g0008 a0003c0003t0002g0010 others(41): Show a0003c0003t0002g0005 a0003c0003t0002g0008 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0015 a0003c0003t0002g0018 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0053 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0069 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0105 a0003c0003t0002g0112 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0134 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0015g0017 a0003c0003t0016g0097 a0003c0003t0016g0106 a0003c0003t0025g0096 a0003c0003t0025g0124 a0003c0003t0039g0095 a0003c0003t0040g0052 a0003c0003t0041g0098 a0003c0003t0042g0115 a0003c0003t0043g0086 a0003c0003t0044g0099	71	394	0.1802	3	c.223 others(10): Show c.223_225dupAAG	p.Lys others(5): Show p.Lys75dup	KIAA0040	ENSG00000235750.10	transcript	ENST00000423313.6	protein_coding	4/4	745/4548	225/300	75/99		chr1	TogoVar
KIAA0040_chr1_175151986_175197776	175160788	C C	CCTTCTT CCTTCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp2 HG02132.hp2 NA18998.hp2 HG01081.hp2 HG02132.hp2 NA18998.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0028 a0006c0007t0002g0141 a0006c0007t0002g0028 a0006c0007t0002g0141	3	394	0.0076	6	c.220 others(13): Show c.220_225dupAAGAAG	p.Lys others(11): Show p.Lys74_Lys75dup	KIAA0040	ENSG00000235750.10	transcript	ENST00000423313.6	protein_coding	4/4	745/4548	225/300	75/99		chr1	TogoVar
KIAA0040_chr1_175151986_175197776	175160788	C C	CCTTCTTC others(2): Show CCTTCTTCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp2 HG02572.hp1 HG02630.hp1 others(4): Show HG02055.hp2 HG02572.hp1 HG02630.hp1 HG02922.hp2 HG03239.hp2 HG03486.hp1 NA18957.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0016 a0005c0006t0036 others(3): Show a0005c0006t0002 a0005c0006t0016 a0005c0006t0036 a0005c0006t0078 a0005c0006t0079 a0005c0006t0080	a0005c0006t0002g0085 a0005c0006t0016g0114 a0005c0006t0036g0213 others(4): Show a0005c0006t0002g0085 a0005c0006t0016g0114 a0005c0006t0036g0213 a0005c0006t0036g0216 a0005c0006t0078g0215 a0005c0006t0079g0256 a0005c0006t0080g0214	7	394	0.0178	9	c.217 others(16): Show c.217_225dupAAGAAGAAG	p.Lys others(11): Show p.Lys73_Lys75dup	KIAA0040	ENSG00000235750.10	transcript	ENST00000423313.6	protein_coding	4/4	745/4548	225/300	75/99		chr1	TogoVar
KLF18_chr1_44132821_44146631	44139048	T T	TCTGGTTA others(38): Show TCTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(369): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.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 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.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0012 a0013 a0015 a0016 a0017 a0018 a0022 a0023 a0024 a0025 a0027 a0029 a0030 a0032	a0001c0001 a0001c0007 a0001c0011 others(25): Show a0001c0001 a0001c0007 a0001c0011 a0001c0013 a0001c0014 a0001c0018 a0002c0002 a0003c0003 a0003c0019 a0004c0004 a0007c0008 a0008c0009 a0009c0010 a0012c0017 a0012c0025 a0013c0016 a0015c0020 a0016c0022 a0017c0036 a0018c0037 a0022c0034 a0023c0032 a0024c0030 a0025c0029 a0027c0028 a0029c0031 a0030c0033 a0032c0040	a0001c0001t0000 a0001c0007t0000 a0001c0011t0000 others(25): Show a0001c0001t0000 a0001c0007t0000 a0001c0011t0000 a0001c0013t0000 a0001c0014t0000 a0001c0018t0000 a0002c0002t0000 a0003c0003t0000 a0003c0019t0000 a0004c0004t0000 a0007c0008t0000 a0008c0009t0000 a0009c0010t0000 a0012c0017t0000 a0012c0025t0000 a0013c0016t0000 a0015c0020t0000 a0016c0022t0000 a0017c0036t0000 a0018c0037t0000 a0022c0034t0000 a0023c0032t0000 a0024c0030t0000 a0025c0029t0000 a0027c0028t0000 a0029c0031t0000 a0030c0033t0000 a0032c0040t0000	a0001c0001t0000g0001 a0001c0001t0000g0026 a0001c0007t0000g0007 others(27): Show a0001c0001t0000g0001 a0001c0001t0000g0026 a0001c0007t0000g0007 a0001c0011t0000g0011 a0001c0013t0000g0013 a0001c0014t0000g0014 a0001c0018t0000g0018 a0002c0002t0000g0002 a0003c0003t0000g0003 a0003c0003t0000g0029 a0003c0019t0000g0019 a0004c0004t0000g0004 a0007c0008t0000g0008 a0008c0009t0000g0009 a0009c0010t0000g0010 a0012c0017t0000g0017 a0012c0025t0000g0025 a0013c0016t0000g0016 a0015c0020t0000g0020 a0016c0022t0000g0022 a0017c0036t0000g0038 a0018c0037t0000g0039 a0022c0034t0000g0036 a0023c0032t0000g0034 a0024c0030t0000g0032 a0025c0029t0000g0031 a0027c0028t0000g0030 a0029c0031t0000g0033 a0030c0033t0000g0035 a0032c0040t0000g0042	372	428	0.8692	45	c.258 others(54): Show c.2583_2584insGCCCTCTACGGGGGGCAGAATATGATGACCTCCACT GGTAACCAG	p.Gln others(58): Show p.Gln861_Asn862insAlaLeuTyrGlyGlyGlnAsnMetMetThrSe rThrGlyAsnGln	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2583/3159	2583/3159	861/1052		chr1	TogoVar
KLF18_chr1_44132821_44146631	44139048	T T	TCTGGTTA others(38): Show TCTGGTTACCAGTGGAGGTCATCATATTCTGCCCCTCGTAGAGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18939.hp1 NA18939.hp1	a0028 a0028	a0028c0027 a0028c0027	a0028c0027t0000 a0028c0027t0000	a0028c0027t0000g0028 a0028c0027t0000g0028	1	428	0.0023	45	c.258 others(54): Show c.2583_2584insGCCCTCTACGAGGGGCAGAATATGATGACCTCCACT GGTAACCAG	p.Gln others(58): Show p.Gln861_Asn862insAlaLeuTyrGluGlyGlnAsnMetMetThrSe rThrGlyAsnGln	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2583/3159	2583/3159	861/1052		chr1	TogoVar
KLF18_chr1_44132821_44146631	44139048	T T	TCTGGTTA others(38): Show TCTGGTTACCAGTGGAGGTCATCATATTTTGCCCCCCGTAGAGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02523.hp1 HG02523.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0000 a0004c0026t0000	a0004c0026t0000g0027 a0004c0026t0000g0027	1	428	0.0023	45	c.258 others(54): Show c.2583_2584insGCCCTCTACGGGGGGCAAAATATGATGACCTCCACT GGTAACCAG	p.Gln others(58): Show p.Gln861_Asn862insAlaLeuTyrGlyGlyGlnAsnMetMetThrSe rThrGlyAsnGln	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	2583/3159	2583/3159	861/1052		chr1	TogoVar
KRT10_chr17_40813117_40827614	40818851	A A	AGCTGCCG others(23): Show AGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp2 HG00438.hp2 HG00621.hp2 others(91): Show HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01175.hp2 HG01243.hp1 HG01515.hp2 HG01517.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 NA18612.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp1 NA19054.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp1 NA21309.hp2	a0003 a0010 a0011 others(5): Show a0003 a0010 a0011 a0015 a0020 a0021 a0023 a0026	a0003c0003 a0010c0011 a0011c0012 others(5): Show a0003c0003 a0010c0011 a0011c0012 a0015c0017 a0020c0027 a0021c0026 a0023c0028 a0026c0025	a0003c0003t0001 a0003c0003t0005 a0010c0011t0001 others(6): Show a0003c0003t0001 a0003c0003t0005 a0010c0011t0001 a0011c0012t0001 a0015c0017t0001 a0020c0027t0001 a0021c0026t0001 a0023c0028t0001 a0026c0025t0001	a0003c0003t0001g0002 a0003c0003t0005g0019 a0010c0011t0001g0010 others(6): Show a0003c0003t0001g0002 a0003c0003t0005g0019 a0010c0011t0001g0010 a0011c0012t0001g0012 a0015c0017t0001g0020 a0020c0027t0001g0036 a0021c0026t0001g0035 a0023c0028t0001g0037 a0026c0025t0001g0034	94	426	0.2207	30	c.165 others(39): Show c.1654_1683dupAGCTCCGGCGGCGGATACGGCGGCGGCAGC	p.Ser others(43): Show p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyGlySer	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1712/2143	1683/1755	561/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40818851	A A	AGCTGCCG others(53): Show AGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCG CCGCCGGAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp1 HG01081.hp2 HG01109.hp1 others(38): Show HG00438.hp1 HG01081.hp2 HG01109.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02155.hp1 HG02155.hp2 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18944.hp2 NA18954.hp1 NA18961.hp1 NA18969.hp2 NA18970.hp2 NA18978.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19057.hp2 NA19063.hp1 NA19072.hp2 NA19083.hp2	a0006 a0009 a0006 a0009	a0006c0005 a0009c0009 a0006c0005 a0009c0009	a0006c0005t0001 a0009c0009t0001 a0006c0005t0001 a0009c0009t0001	a0006c0005t0001g0004 a0009c0009t0001g0009 a0006c0005t0001g0004 a0009c0009t0001g0009	41	426	0.0962	60	c.168 others(69): Show c.1683_1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCC GGCGGCGGATACGGCGGCGGCAGC	p.Ser others(73): Show p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyGlySerSe rSerGlyGlyGlyTyrGlyGlyGlySer	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1712/2143	1683/1755	561/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40818851	A A	AGCTGCCG others(83): Show AGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCG CCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp2 HG02280.hp2 HG02451.hp1 others(7): Show HG00280.hp2 HG02280.hp2 HG02451.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp2 HG03486.hp2 HG03927.hp1 NA18906.hp2 NA20905.hp2	a0008 a0025 a0008 a0025	a0008c0008 a0025c0031 a0008c0008 a0025c0031	a0008c0008t0001 a0025c0031t0001 a0008c0008t0001 a0025c0031t0001	a0008c0008t0001g0008 a0025c0031t0001g0041 a0008c0008t0001g0008 a0025c0031t0001g0041	10	426	0.0235	90	c.168 others(99): Show c.1683_1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCC GGCGGCGGATACGGCGGCGGCAGCAGCTCCGGCGGCGGATACGGCGGCGG CAGC	p.Ser others(103): Show p.Ser561_Ser562insSerSerGlyGlyGlyTyrGlyGlyGlySerSe rSerGlyGlyGlyTyrGlyGlyGlySerSerSerGlyGlyGlyTyrGlyG lyGlySer	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1712/2143	1683/1755	561/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40818859	C C	CCGCCGTA others(23): Show CCGCCGTATCCGCCGCCGGAGCTGCTGCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03654.hp1 HG03654.hp1	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0001 a0022c0029t0001	a0022c0029t0001g0038 a0022c0029t0001g0038	1	426	0.0024	30	c.167 others(39): Show c.1675_1676insCAGGCAGCAGCTCCGGCGGCGGATACGGCG	p.Gly others(43): Show p.Gly558_Gly559insAlaGlySerSerSerGlyGlyGlyTyrGly	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1704/2143	1675/1755	559/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40818878	A A	AGCT AGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02965.hp2 HG03209.hp1 HG03471.hp1 HG02965.hp2 HG03209.hp1 HG03471.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0015 a0012c0014t0001g0015	3	426	0.0070	3	c.165 others(12): Show c.1654_1656dupAGC	p.Ser others(6): Show p.Ser552dup	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1685/2143	1656/1755	552/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40818962	T T	TGCCGCCG others(20): Show TGCCGCCGTGGCCGCCGCTGGAGCTTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp2 HG00741.hp2 HG01069.hp2 others(23): Show HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01361.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp2 HG03225.hp1 HG03579.hp2 HG06807.hp2 NA18747.hp1 NA18947.hp2 NA19059.hp2 NA19070.hp2 NA19076.hp1 NA19086.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0006 a0007c0006t0001g0039 a0007c0006t0001g0006 a0007c0006t0001g0039	26	426	0.0610	27	c.154 others(36): Show c.1546_1572dupGGAAGCTCCAGCGGCGGCCACGGCGGC	p.Gly others(40): Show p.Gly524_Ser525insGlySerSerSerGlyGlyHisGlyGly	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1601/2143	1572/1755	524/584		chr17	TogoVar
KRT13_chr17_41495981_41510612	41505525	G G	GGGGAGGC others(23): Show GGGGAGGCTCGGCAGGGGCCGGAGGCGGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03710.hp1 HG03710.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0038 a0009c0013t0001g0038	1	470	0.0021	30	c.25_ others(35): Show c.25_26insTGCCCGCCTCCGGCCCCTGCCGAGCCTCCC	p.Ser others(40): Show p.Ser9delinsLeuProAlaSerGlyProCysArgAlaSerPro	KRT13	ENSG00000171401.15	transcript	ENST00000246635.8	protein_coding	1/8	87/1714	25/1377	9/458		chr17	TogoVar
KRT3_chr12_52784685_52801117	52790167	C C	CGCTGCCA others(14): Show CGCTGCCACCGCTGAAACCGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00741.hp1 HG01070.hp2 HG01071.hp1 others(26): Show HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01243.hp1 HG01934.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp2	a0006 a0008 a0009 others(4): Show a0006 a0008 a0009 a0011 a0012 a0014 a0018	a0006c0006 a0008c0009 a0009c0010 others(4): Show a0006c0006 a0008c0009 a0009c0010 a0011c0013 a0012c0016 a0014c0020 a0018c0023	a0006c0006t0001 a0008c0009t0001 a0009c0010t0001 others(4): Show a0006c0006t0001 a0008c0009t0001 a0009c0010t0001 a0011c0013t0001 a0012c0016t0001 a0014c0020t0001 a0018c0023t0001	a0006c0006t0001g0013 a0006c0006t0001g0018 a0006c0006t0001g0055 others(9): Show a0006c0006t0001g0013 a0006c0006t0001g0018 a0006c0006t0001g0055 a0008c0009t0001g0017 a0009c0010t0001g0024 a0009c0010t0001g0080 a0011c0013t0001g0090 a0011c0013t0001g0092 a0011c0013t0001g0103 a0012c0016t0001g0037 a0014c0020t0001g0051 a0018c0023t0001g0084	29	454	0.0639	21	c.174 others(30): Show c.1741_1761dupAGCGGTTTCAGCGGTGGCAGC	p.Ser others(34): Show p.Ser587_Gly588insSerGlyPheSerGlyGlySer	KRT3	ENSG00000186442.7	transcript	ENST00000417996.2	protein_coding	9/9	1836/2319	1761/1887	587/628		chr12	TogoVar
KRT4_chr12_52801549_52819116	52813799	C C	CCACCAAA others(35): Show CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0034 a0002c0010t0001g0034	2	470	0.0043	42	c.259 others(49): Show c.259_260insCTGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTT GGTG	p.Gly others(53): Show p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyG lyPheGly	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/9	317/2141	259/1563	87/520		chr12	TogoVar
KRT4_chr12_52801549_52819116	52813799	C C	CCACCAAA others(35): Show CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(442): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 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 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 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 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 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 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.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.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.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.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 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.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.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.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 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.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0011 a0012	a0001c0001 a0001c0013 a0002c0002 others(8): Show a0001c0001 a0001c0013 a0002c0002 a0002c0005 a0003c0003 a0005c0006 a0006c0007 a0007c0008 a0009c0012 a0011c0015 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0005c0006t0001 a0006c0007t0001 a0007c0008t0001 a0009c0012t0001 a0011c0015t0002 a0012c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0013t0001g0042 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0002g0007 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0005t0001g0008 a0003c0003t0001g0014 a0003c0003t0001g0022 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0057 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0003g0010 a0003c0003t0003g0013 a0005c0006t0001g0016 a0006c0007t0001g0023 a0007c0008t0001g0026 a0009c0012t0001g0041 a0011c0015t0002g0065 a0012c0016t0001g0066	445	470	0.9468	42	c.259 others(49): Show c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTT GGTG	p.Gly others(53): Show p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyG lyPheGly	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/9	317/2141	259/1563	87/520		chr12	TogoVar
KRT4_chr12_52801549_52819116	52813799	C C	CCACCAAA others(35): Show CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19054.hp1 NA19054.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0035 a0010c0011t0001g0035	1	470	0.0021	42	c.259 others(49): Show c.259_260insCCAGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTT GGTG	p.Gly others(53): Show p.Gly86_Gly87insAlaSerGlyPheGlyAlaGlyPheGlyThrGlyG lyPheGly	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/9	317/2141	259/1563	87/520		chr12	TogoVar
KRT4_chr12_52801549_52819116	52813799	C C	CCACCAAA others(35): Show CCACCAAAGCCACCAGTGCCGAAACCAGCTCTGAAGCCGCCGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01074.hp2 HG01081.hp1 HG01074.hp2 HG01081.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0027 a0008c0009t0001g0027	2	470	0.0043	42	c.259 others(49): Show c.259_260insCCGGCGGCTTCAGAGCTGGTTTCGGCACTGGTGGCTTT GGTG	p.Gly others(53): Show p.Gly86_Gly87insAlaGlyGlyPheArgAlaGlyPheGlyThrGlyG lyPheGly	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/9	317/2141	259/1563	87/520		chr12	TogoVar
KRT76_chr12_52763155_52782345	52768988	C C	CGCT CGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp2 HG01169.hp1 HG02257.hp1 others(13): Show HG01167.hp2 HG01169.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03453.hp2 HG03540.hp1 NA19240.hp2	a0005 a0009 a0005 a0009	a0005c0005 a0005c0014 a0009c0016 a0005c0005 a0005c0014 a0009c0016	a0005c0005t0001 a0005c0014t0001 a0009c0016t0001 a0005c0005t0001 a0005c0014t0001 a0009c0016t0001	a0005c0005t0001g0007 a0005c0005t0001g0028 a0005c0005t0001g0029 others(5): Show a0005c0005t0001g0007 a0005c0005t0001g0028 a0005c0005t0001g0029 a0005c0014t0001g0024 a0005c0014t0001g0026 a0005c0014t0001g0027 a0009c0016t0001g0020 a0009c0016t0001g0051	16	444	0.0360	3	c.164 others(12): Show c.1641_1642insAGC	p.Ser others(6): Show p.Ser547dup	KRT76	ENSG00000185069.2	transcript	ENST00000332411.2	protein_coding	9/9	1695/2529	1641/1917	547/638		chr12	TogoVar
KRTAP1-1_chr17_41035541_41046450	41041286	G G	GTGGCTGG others(23): Show GTGGCTGGCAGGAGCTGGTCTCACAGCAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp2 HG02723.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0000 a0011c0011t0001g0000	1	403	0.0025	30	c.82_ others(36): Show c.82_111dupAGCTGCTGTGAGACCAGCTCCTGCCAGCCA	p.Pro others(41): Show p.Pro37_Arg38insSerCysCysGluThrSerSerCysGlnPro	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding	1/1	164/910	111/534	37/177		chr17	TogoVar

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Search Results (Total: 1973 hits)