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
HRNR_chr1_152207076_152229193	152218223	TTGACCCA others(698): Show TTGACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAG CCCTGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACC GTGGCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATG ACTGTCCTGATGTAGAACCGTGTTGCCCATGGGTAGAGGAATGACCTGAG CTAGATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCG GTGACCTAAGCCAGAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGC TTGAAGACCACCCTGAGCCAGACCTATATGGGCCATAGCTGGAAGACTGC CCGGAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGA TCCAGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCAT GCTGACCATAGCTGGAAGACGAACCTGAGCTAGATCCATGTTGTTCGCTC CTAGATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTG ACCTGAGCCAGATCCATGCTGAGTGTAACCAGAGGACTGCCCTGAGCTAG ACTTGTGACCAAAGCCAGAAGACTGGCCTGAGCCAGACCCATGTCGGCCA CTGCTGGAAGACCGACCGGAGCCAGACCCATGTCGGCCATAGCTGGGAGA CTGCCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00438.hp2 HG02027.hp2 HG02040.hp1 others(1): Show HG00438.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0013t0005g0018 a0001c0013t0005g0182	4	418	0.0096	-705	c.270 others(9): Show c.2701_3405del	p.Gly others(14): Show p.Gly901_Ser1135del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	3481/9629	2701/8553	901/2850		chr1	TogoVar
HSP90AA1_chr14_102075742_102092044	102084938	CTTT CTTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02015.hp1 NA18982.hp1 NA19090.hp1 HG02015.hp1 NA18982.hp1 NA19090.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0016 a0002c0005t0001g0016	3	398	0.0075	-3	c.721 others(10): Show c.721_723delAAA	p.Lys others(6): Show p.Lys241del	HSP90AA1	ENSG00000080824.19	transcript	ENST00000216281.13	protein_coding	5/11	782/3228	721/2199	241/732		chr14	TogoVar
HSP90B1_chr12_103925410_103952926	103947409	TGAA TGAA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp2 HG00438.hp1 HG00558.hp1 others(83): Show HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01106.hp2 HG01192.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02523.hp2 HG03239.hp1 HG04184.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA20300.hp2 NA20905.hp1	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0003 a0002c0004 a0005c0013 others(1): Show a0002c0003 a0002c0004 a0005c0013 a0008c0012	a0002c0003t0001 a0002c0004t0001 a0005c0013t0001 others(1): Show a0002c0003t0001 a0002c0004t0001 a0005c0013t0001 a0008c0012t0001	a0002c0003t0001g0004 a0002c0003t0001g0016 a0002c0003t0001g0018 others(39): Show a0002c0003t0001g0004 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0021 a0002c0003t0001g0023 a0002c0003t0001g0031 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0049 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0004t0001g0012 a0002c0004t0001g0041 a0002c0004t0001g0095 a0002c0004t0001g0098 a0002c0004t0001g0174 a0002c0004t0001g0185 a0002c0004t0001g0199 a0002c0004t0001g0205 a0005c0013t0001g0139 a0008c0012t0001g0004	86	458	0.1878	-3	c.237 others(12): Show c.2371_2373delGAA	p.Glu others(6): Show p.Glu791del	HSP90B1	ENSG00000166598.16	transcript	ENST00000299767.10	protein_coding	17/18	2477/2782	2371/2412	791/803	INFO_REALIGN_3_PRIME	chr12	TogoVar
HYAL4_chr7_123840169_123882481	123877029	ATATGAAG others(5): Show ATATGAAGGAGCT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0218 a0002c0013t0001g0218	1	394	0.0025	-12	c.132 others(21): Show c.1321_1332delTATGAAGGAGCT	p.Tyr others(13): Show p.Tyr441_Ala444del	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	5/5	1959/2410	1321/1446	441/481		chr7	TogoVar
IGFBPL1_chr9_38401528_38429454	38411408	GGTCATC GGTCATC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00738.hp1 HG02622.hp1 HG02723.hp2 others(2): Show HG00738.hp1 HG02622.hp1 HG02723.hp2 HG03516.hp1 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0023 a0003c0004t0024 a0003c0004t0034 a0003c0004t0023 a0003c0004t0024 a0003c0004t0034	a0003c0004t0023g0029 a0003c0004t0024g0030 a0003c0004t0034g0060 a0003c0004t0023g0029 a0003c0004t0024g0030 a0003c0004t0034g0060	5	448	0.0112	-6	c.823 others(13): Show c.823_828delGATGAC	p.Asp others(13): Show p.Asp275_Asp276del	IGFBPL1	ENSG00000137142.5	transcript	ENST00000377694.2	protein_coding	4/5	858/3566	823/837	275/278		chr9	TogoVar
IGFN1_chr1_201185824_201233952	201209793	AATAAGGC others(101): Show AATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATAGGTTC AGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGG GGTCAATGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(109): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0005 a0017 others(27): Show a0001 a0005 a0017 a0022 a0023 a0028 a0031 a0032 a0033 a0057 a0058 a0059 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0077 a0079 a0101 a0102 a0103 a0104 a0105	a0001c0001 a0001c0013 a0001c0017 others(40): Show a0001c0001 a0001c0013 a0001c0017 a0001c0022 a0001c0065 a0001c0090 a0005c0004 a0005c0030 a0005c0054 a0017c0055 a0017c0141 a0017c0142 a0017c0143 a0022c0089 a0022c0096 a0022c0097 a0023c0041 a0023c0086 a0028c0051 a0031c0044 a0032c0042 a0033c0043 a0057c0102 a0058c0066 a0059c0091 a0061c0069 a0062c0067 a0063c0100 a0064c0099 a0065c0094 a0066c0095 a0067c0098 a0068c0068 a0069c0076 a0070c0093 a0071c0101 a0077c0088 a0079c0108 a0101c0138 a0102c0140 a0103c0144 a0104c0139 a0105c0137	a0001c0001t0001 a0001c0013t0001 a0001c0013t0011 others(42): Show a0001c0001t0001 a0001c0013t0001 a0001c0013t0011 a0001c0017t0001 a0001c0022t0003 a0001c0065t0001 a0001c0090t0001 a0005c0004t0001 a0005c0004t0003 a0005c0030t0005 a0005c0054t0001 a0017c0055t0002 a0017c0141t0004 a0017c0142t0004 a0017c0143t0002 a0022c0089t0004 a0022c0096t0002 a0022c0097t0002 a0023c0041t0001 a0023c0086t0001 a0028c0051t0001 a0031c0044t0001 a0032c0042t0001 a0033c0043t0001 a0057c0102t0001 a0058c0066t0009 a0059c0091t0001 a0061c0069t0001 a0062c0067t0003 a0063c0100t0001 a0064c0099t0001 a0065c0094t0001 a0066c0095t0001 a0067c0098t0001 a0068c0068t0001 a0069c0076t0005 a0070c0093t0001 a0071c0101t0001 a0077c0088t0001 a0079c0108t0001 a0101c0138t0009 a0102c0140t0001 a0103c0144t0002 a0104c0139t0001 a0105c0137t0004	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0255 a0001c0001t0001g0322 a0001c0013t0001g0015 a0001c0013t0001g0220 a0001c0013t0001g0224 a0001c0013t0001g0236 a0001c0013t0001g0245 a0001c0013t0011g0209 a0001c0017t0001g0001 a0001c0017t0001g0046 a0001c0017t0001g0166 a0001c0022t0003g0037 a0001c0022t0003g0146 a0001c0022t0003g0149 a0001c0065t0001g0242 a0001c0090t0001g0191 a0005c0004t0001g0007 a0005c0004t0001g0019 a0005c0004t0001g0055 a0005c0004t0001g0060 a0005c0004t0001g0214 a0005c0004t0001g0215 a0005c0004t0001g0283 a0005c0004t0001g0286 a0005c0004t0001g0290 a0005c0004t0001g0297 a0005c0004t0001g0303 a0005c0004t0001g0306 a0005c0004t0003g0275 a0005c0030t0005g0081 a0005c0030t0005g0082 a0005c0030t0005g0093 a0005c0054t0001g0007 a0017c0055t0002g0282 a0017c0055t0002g0301 a0017c0141t0004g0056 a0017c0142t0004g0294 a0017c0143t0002g0310 a0022c0089t0004g0183 a0022c0096t0002g0145 a0022c0097t0002g0068 a0023c0041t0001g0001 a0023c0086t0001g0001 a0028c0051t0001g0009 a0031c0044t0001g0044 a0032c0042t0001g0001 a0032c0042t0001g0129 a0033c0043t0001g0165 a0033c0043t0001g0197 a0057c0102t0001g0001 a0058c0066t0009g0250 a0059c0091t0001g0190 a0061c0069t0001g0219 a0062c0067t0003g0237 a0063c0100t0001g0142 a0064c0099t0001g0130 a0065c0094t0001g0137 a0066c0095t0001g0122 a0067c0098t0001g0131 a0068c0068t0001g0015 a0069c0076t0005g0080 a0070c0093t0001g0192 a0071c0101t0001g0001 a0077c0088t0001g0144 a0079c0108t0001g0157 a0101c0138t0009g0315 a0102c0140t0001g0055 a0103c0144t0002g0295 a0104c0139t0001g0296 a0105c0137t0004g0056	112	428	0.2617	-108	c.490 others(9): Show c.4903_5010del	p.Lys others(15): Show p.Lys1635_Asp1670del	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5034/11811	4903/11127	1635/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201209793	AATAAGGC others(425): Show AATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATAGGTTC AGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGG GGTCAATGGATGAGGCAGGTTATAGGAAGAATTTGGGGGCTCCTGAGGGA ATAGGTTCAGGGAGTAAGGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGT AGAAATGGGGTCAGTGAATGAGGCAGGTTATAGGAAGGATTTGGGGGCTC CTGAGGGAATGGGTTCAGGGAGTAAGGCAGGTTTCAGGGATGGTTTAGGG GGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTT GGGTGCTCCTAAGGGAATAGGTTCAGGGAGCAAGGCAGATTTTAGGGATG CTTTAGGGAGTTCTGGGGAAATGGGGTCAATGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp2 HG01884.hp2	a0076 a0076	a0076c0104 a0076c0104	a0076c0104t0007 a0076c0104t0007	a0076c0104t0007g0272 a0076c0104t0007g0272	1	428	0.0023	-432	c.490 others(9): Show c.4903_5334del	p.Lys others(15): Show p.Lys1635_Asp1778del	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5034/11811	4903/11127	1635/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210864	GGGTCAAT others(101): Show GGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTGAGGG AATAGGTTCAGGGAGTAAGGCAGGTTTCAGGGATGGTTTAGGGGGTTCTG AAGAAATGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp2 HG03710.hp1 HG01884.hp2 HG03710.hp1	a0061 a0076 a0061 a0076	a0061c0069 a0076c0104 a0061c0069 a0076c0104	a0061c0069t0001 a0076c0104t0007 a0061c0069t0001 a0076c0104t0007	a0061c0069t0001g0219 a0076c0104t0007g0272 a0061c0069t0001g0219 a0076c0104t0007g0272	2	428	0.0047	-108	c.601 others(9): Show c.6019_6126del	p.Gly others(15): Show p.Gly2007_Glu2042del	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6150/11811	6019/11127	2007/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF3_chr1_116569408_116672733	116579647	GGTC GGTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp2 HG01099.hp1 HG01255.hp2 others(14): Show HG00280.hp2 HG01099.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01934.hp1 HG01978.hp1 HG02109.hp1 HG02257.hp2 HG02622.hp2 HG03486.hp1 HG03491.hp2 HG03688.hp2 NA18944.hp1 NA18994.hp1 NA19001.hp1 homoSapiens_chm13v2.hp1	a0003 a0008 a0009 others(1): Show a0003 a0008 a0009 a0012	a0003c0003 a0003c0017 a0008c0030 others(2): Show a0003c0003 a0003c0017 a0008c0030 a0009c0028 a0012c0023	a0003c0003t0001 a0003c0003t0002 a0003c0003t0010 others(4): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0010 a0003c0017t0001 a0008c0030t0001 a0009c0028t0003 a0012c0023t0002	a0003c0003t0001g0002 a0003c0003t0001g0071 a0003c0003t0001g0074 others(14): Show a0003c0003t0001g0002 a0003c0003t0001g0071 a0003c0003t0001g0074 a0003c0003t0001g0089 a0003c0003t0001g0093 a0003c0003t0001g0111 a0003c0003t0001g0127 a0003c0003t0001g0133 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0204 a0003c0003t0002g0200 a0003c0003t0010g0101 a0003c0017t0001g0165 a0008c0030t0001g0167 a0009c0028t0003g0033 a0012c0023t0002g0182	17	264	0.0644	-3	c.307 others(12): Show c.3076_3078delGAC	p.Asp others(7): Show p.Asp1026del	IGSF3	ENSG00000143061.18	transcript	ENST00000369486.8	protein_coding	10/11	3824/7235	3076/3585	1026/1194		chr1	TogoVar
IGSF9_chr1_159922041_159950613	159928402	AAGGGGGC others(5): Show AAGGGGGCTCTGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02071.hp2 HG02071.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0009 a0013c0025t0009	a0013c0025t0009g0193 a0013c0025t0009g0193	1	424	0.0024	-12	c.297 others(21): Show c.2974_2985delGCAGAGCCCCCT	p.Ala others(13): Show p.Ala992_Pro995del	IGSF9	ENSG00000085552.18	transcript	ENST00000368094.6	protein_coding	19/21	3200/4059	2974/3540	992/1179		chr1	TogoVar
IL4I1_chr19_49884654_49901887	49894246	GGAGGGTG others(20): Show GGAGGGTGCAGGCGGTACCCACCTGGTT	G G	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02523.hp1 HG02523.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0110 a0005c0015t0001g0110	1	428	0.0023	-27	c.562 others(37): Show c.562_567+21delAACCAGGTGGGTACCGCCTGCACCCTC	p.Asn others(13): Show p.Asn188_Gln189del	IL4I1	ENSG00000104951.16	transcript	ENST00000391826.7	protein_coding	5/8		562/1704	188/567		chr19	TogoVar
IL9R_chrX_155992696_156015817	156010156	GCAA GCAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02615.hp2 HG02622.hp1 HG02630.hp1 others(1): Show HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1	a0005 a0018 a0005 a0018	a0005c0009 a0018c0028 a0005c0009 a0018c0028	a0005c0009t0001 a0018c0028t0001 a0005c0009t0001 a0018c0028t0001	a0005c0009t0001g0081 a0005c0009t0001g0082 a0005c0009t0001g0083 others(1): Show a0005c0009t0001g0081 a0005c0009t0001g0082 a0005c0009t0001g0083 a0018c0028t0001g0077	4	220	0.0182	-3	c.132 others(12): Show c.1324_1326delAAC	p.Asn others(6): Show p.Asn442del	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1388/2038	1324/1566	442/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5F_chr10_119721050_119834147	119827550	CCTT CCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01070.hp2 HG01071.hp1 NA19058.hp2 others(2): Show HG01070.hp2 HG01071.hp1 NA19058.hp2 NA20752.hp1 NA20805.hp2	a0004 a0012 a0004 a0012	a0004c0006 a0012c0013 a0004c0006 a0012c0013	a0004c0006t0001 a0012c0013t0001 a0004c0006t0001 a0012c0013t0001	a0004c0006t0001g0085 a0004c0006t0001g0162 a0004c0006t0001g0166 others(2): Show a0004c0006t0001g0085 a0004c0006t0001g0162 a0004c0006t0001g0166 a0004c0006t0001g0167 a0012c0013t0001g0165	5	328	0.0152	-3	c.317 others(12): Show c.3172_3174delTCT	p.Ser others(7): Show p.Ser1058del	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	20/20	3385/4979	3172/3399	1058/1132	INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5K_chr17_1489577_1521612	1513939	GGGGCGCT others(5): Show GGGGCGCTGCCGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0094 a0003c0006t0001g0094	1	420	0.0024	-12	c.73_ others(17): Show c.73_84delTCGGCAGCGCCC	p.Ser others(11): Show p.Ser25_Pro28del	INPP5K	ENSG00000132376.20	transcript	ENST00000421807.7	protein_coding	2/12	197/2706	73/1347	25/448		chr17	TogoVar
IQSEC1_chr3_12892043_13078429	12901258	TGGC TGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01099.hp1 HG02145.hp2 HG02258.hp1 others(11): Show HG01099.hp1 HG02145.hp2 HG02258.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0012 a0002c0024 a0002c0004 a0002c0012 a0002c0024	a0002c0004t0004 a0002c0004t0011 a0002c0004t0012 others(3): Show a0002c0004t0004 a0002c0004t0011 a0002c0004t0012 a0002c0004t0014 a0002c0012t0004 a0002c0024t0044	a0002c0004t0004g0054 a0002c0004t0004g0055 a0002c0004t0004g0061 others(11): Show a0002c0004t0004g0054 a0002c0004t0004g0055 a0002c0004t0004g0061 a0002c0004t0004g0063 a0002c0004t0004g0064 a0002c0004t0004g0125 a0002c0004t0011g0244 a0002c0004t0012g0115 a0002c0004t0012g0174 a0002c0004t0012g0182 a0002c0004t0014g0235 a0002c0004t0014g0240 a0002c0012t0004g0047 a0002c0024t0044g0033	14	250	0.0560	-3	c.306 others(12): Show c.3067_3069delGCC	p.Ala others(7): Show p.Ala1023del	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	14/14	3484/7700	3067/3345	1023/1114		chr3	TogoVar
IRGQ_chr19_43579367_43601134	43592517	CCAGCAGC others(92): Show CCAGCAGCAGTGCCCCTGCCTGGGCTGGGGGGAGCGCTCGCCGCAGCCAT TCGCATAGCCCTGGGAGTCCGCCAGGCCGTAGGGGGAACACTGGCGGCGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18967.hp1 NA18967.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0063 a0007c0008t0001g0063	1	426	0.0024	-99	c.128 others(108): Show c.1282_1380delCCGCCGCCAGTGTTCCCCCTACGGCCTGGCGGACTC CCAGGGCTATGCGAATGGCTGCGGCGAGCGCTCCCCCCAGCCCAGGCAGG GGCACTGCTGCTG	p.Pro others(13): Show p.Pro428_Leu460del	IRGQ	ENSG00000167378.10	transcript	ENST00000422989.6	protein_coding	3/3	1535/9686	1282/1872	428/623		chr19	TogoVar
ITPKB_chr1_226626690_226744282	226737194	CACTGCCG others(5): Show CACTGCCGCTGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18994.hp1 NA19060.hp1 NA18994.hp1 NA19060.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0321 a0010c0015t0002g0322 a0010c0015t0002g0321 a0010c0015t0002g0322	2	350	0.0057	-12	c.253 others(19): Show c.253_264delAGCAGCGGCAGT	p.Ser others(11): Show p.Ser85_Ser88del	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding	2/8	711/6269	253/2841	85/946		chr1	TogoVar
IVL_chr1_152903546_152916886	152910325	GGAGCAGC others(23): Show GGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01928.hp1 HG01934.hp1 HG01978.hp1 others(5): Show HG01928.hp1 HG01934.hp1 HG01978.hp1 HG03017.hp1 HG03654.hp1 HG03704.hp1 NA18955.hp2 NA18964.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0001 a0009c0009t0001g0001	8	426	0.0188	-30	c.679 others(37): Show c.679_708delGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	p.Glu others(13): Show p.Glu227_Pro236del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	742/2152	679/1758	227/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910446	GAGCAGCA others(53): Show GAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCT GGAGCTCCCAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19043.hp2 NA21309.hp2 NA19043.hp2 NA21309.hp2	a0040 a0041 a0040 a0041	a0040c0033 a0041c0032 a0040c0033 a0041c0032	a0040c0033t0001 a0041c0032t0007 a0040c0033t0001 a0041c0032t0007	a0040c0033t0001g0001 a0041c0032t0007g0001 a0040c0033t0001g0001 a0041c0032t0007g0001	2	426	0.0047	-60	c.676 others(67): Show c.676_735delCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCACAGCA GCAGGAGGGGCAGCTGGAGCTC	p.Pro others(13): Show p.Pro226_Leu245del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	739/2152	676/1758	226/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910476	GAGCAGCA others(23): Show GAGCAGCAGGAGGGGCAGCTGGAGCTCCCAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02970.hp1 HG03041.hp1 HG03139.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2	a0020 a0034 a0020 a0034	a0020c0025 a0034c0035 a0020c0025 a0034c0035	a0020c0025t0002 a0034c0035t0002 a0020c0025t0002 a0034c0035t0002	a0020c0025t0002g0006 a0034c0035t0002g0003 a0020c0025t0002g0006 a0034c0035t0002g0003	3	426	0.0070	-30	c.706 others(37): Show c.706_735delCCACAGCAGCAGGAGGGGCAGCTGGAGCTC	p.Pro others(13): Show p.Pro236_Leu245del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	769/2152	706/1758	236/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IWS1_chr2_127475812_127531489	127505296	GCTC GCTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02015.hp1 HG02015.hp2 NA19091.hp2 HG02015.hp1 HG02015.hp2 NA19091.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0056 a0006c0007t0001g0113 a0006c0007t0001g0114 a0006c0007t0001g0056 a0006c0007t0001g0113 a0006c0007t0001g0114	3	338	0.0089	-3	c.604 others(10): Show c.604_606delGAG	p.Glu others(6): Show p.Glu202del	IWS1	ENSG00000163166.15	transcript	ENST00000295321.9	protein_coding	3/14	887/2973	604/2460	202/819		chr2	TogoVar
KASH5_chr19_49383249_49422990	49409254	CTGGGCTT others(23): Show CTGGGCTTGGAGATCGAGGCCATTCGACAGG	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0083 a0008c0011t0001g0083	1	354	0.0028	-30	c.112 others(41): Show c.1123_1146+6delTTGGAGATCGAGGCCATTCGACAGGTGGGC	p.Leu others(13): Show p.Leu375_Gln382del	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	14/20	1297/2343	1123/1689	375/562	INFO_REALIGN_3_PRIME	chr19	TogoVar
KAT6B_chr10_74821600_75037624	75022147	GGAA GGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(159): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 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 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.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 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0007 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0006 a0001c0010 others(15): Show a0001c0001 a0001c0006 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0003c0003 a0003c0005 a0004c0004 a0005c0007 a0007c0021 a0009c0017 a0010c0009 a0011c0013 a0012c0011 a0013c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0006t0001 a0001c0010t0002 a0001c0012t0006 a0001c0014t0002 a0001c0015t0002 a0001c0016t0001 a0001c0018t0002 a0003c0003t0002 a0003c0005t0002 a0004c0004t0001 a0004c0004t0002 a0005c0007t0003 a0007c0021t0003 a0009c0017t0001 a0010c0009t0011 a0011c0013t0001 a0012c0011t0003 a0013c0008t0003	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0021 others(159): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0203 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0051 a0001c0001t0003g0096 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0174 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0221 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0005g0113 a0001c0001t0005g0214 a0001c0001t0008g0072 a0001c0001t0009g0121 a0001c0001t0010g0024 a0001c0006t0001g0075 a0001c0006t0001g0077 a0001c0010t0002g0074 a0001c0012t0006g0179 a0001c0014t0002g0071 a0001c0015t0002g0097 a0001c0016t0001g0183 a0001c0018t0002g0236 a0003c0003t0002g0020 a0003c0003t0002g0025 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0090 a0003c0003t0002g0094 a0003c0003t0002g0102 a0003c0003t0002g0110 a0003c0003t0002g0129 a0003c0003t0002g0149 a0003c0003t0002g0150 a0003c0003t0002g0168 a0003c0003t0002g0227 a0003c0003t0002g0229 a0003c0005t0002g0068 a0003c0005t0002g0069 a0004c0004t0001g0012 a0004c0004t0001g0014 a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0002g0013 a0004c0004t0002g0017 a0004c0004t0002g0018 a0004c0004t0002g0019 a0005c0007t0003g0202 a0005c0007t0003g0204 a0007c0021t0003g0218 a0009c0017t0001g0111 a0010c0009t0011g0038 a0011c0013t0001g0042 a0012c0011t0003g0009 a0013c0008t0003g0194	162	236	0.6864	-3	c.331 others(12): Show c.3310_3312delGAA	p.Glu others(7): Show p.Glu1104del	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	16/18	3824/8314	3310/6222	1104/2073	INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNJ18_chr17_21687523_21709612	21703782	CGAG CGAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp1 HG01517.hp1 HG01517.hp2 others(40): Show HG01167.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG02300.hp1 HG02897.hp1 HG02976.hp2 HG03239.hp1 NA18941.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2	a0002 a0010 a0011 others(2): Show a0002 a0010 a0011 a0012 a0013	a0002c0002 a0002c0005 a0010c0010 others(3): Show a0002c0002 a0002c0005 a0010c0010 a0011c0007 a0012c0008 a0013c0009	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0012 a0002c0005t0005 a0002c0005t0006 a0002c0005t0007 a0010c0010t0009 a0011c0007t0002 a0012c0008t0002 a0013c0009t0005	a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 others(26): Show a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0030 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0026 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0008g0028 a0002c0002t0012g0054 a0002c0005t0005g0008 a0002c0005t0005g0014 a0002c0005t0005g0034 a0002c0005t0006g0019 a0002c0005t0006g0033 a0002c0005t0007g0035 a0010c0010t0009g0018 a0011c0007t0002g0003 a0012c0008t0002g0022 a0013c0009t0005g0008	43	112	0.3839	-3	c.100 others(12): Show c.1000_1002delGAG	p.Glu others(6): Show p.Glu334del	KCNJ18	ENSG00000260458.3	transcript	ENST00000567955.3	protein_coding	3/3	1370/2196	1000/1302	334/433	INFO_REALIGN_3_PRIME	chr17	TogoVar
KCTD1_chr18_26449910_26553553	26546916	ACACAGAC others(20): Show ACACAGACTCGTACAGGGCGCGCTTGGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18959.hp1 NA18999.hp2 NA19009.hp1 NA18959.hp1 NA18999.hp2 NA19009.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0297 a0004c0007t0001g0298 a0004c0007t0001g0299 a0004c0007t0001g0297 a0004c0007t0001g0298 a0004c0007t0001g0299	3	338	0.0089	-27	c.159 others(36): Show c.1594_1620delCCCAAGCGCGCCCTGTACGAGTCTGTG	p.Pro others(13): Show p.Pro532_Val540del	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	1/5	1637/3448	1594/2598	532/865		chr18	TogoVar
KIAA0040_chr1_175151986_175197776	175160788	CCTTCTTC others(2): Show CCTTCTTCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG00544.hp1 HG00597.hp2 others(110): Show HG00280.hp1 HG00544.hp1 HG00597.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp2 NA18999.hp1 NA19003.hp2 NA19010.hp1 NA19030.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19086.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 others(25): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0017 a0002c0002t0022 a0002c0002t0023 a0002c0002t0027 a0002c0002t0028 a0002c0002t0037 a0002c0002t0038 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0061 a0002c0002t0081 a0007c0009t0082	a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0013 others(83): Show a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0016 a0002c0002t0003g0024 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0062 a0002c0002t0003g0068 a0002c0002t0003g0078 a0002c0002t0003g0088 a0002c0002t0003g0103 a0002c0002t0003g0107 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0144 a0002c0002t0005g0014 a0002c0002t0005g0041 a0002c0002t0005g0192 a0002c0002t0005g0206 a0002c0002t0005g0254 a0002c0002t0005g0255 a0002c0002t0006g0031 a0002c0002t0006g0032 a0002c0002t0006g0054 a0002c0002t0006g0117 a0002c0002t0006g0118 a0002c0002t0007g0059 a0002c0002t0007g0060 a0002c0002t0007g0061 a0002c0002t0007g0063 a0002c0002t0007g0064 a0002c0002t0007g0126 a0002c0002t0007g0127 a0002c0002t0008g0029 a0002c0002t0008g0070 a0002c0002t0008g0071 a0002c0002t0008g0074 a0002c0002t0008g0080 a0002c0002t0008g0125 a0002c0002t0011g0019 a0002c0002t0011g0156 a0002c0002t0017g0027 a0002c0002t0017g0108 a0002c0002t0022g0193 a0002c0002t0022g0212 a0002c0002t0022g0218 a0002c0002t0023g0208 a0002c0002t0023g0219 a0002c0002t0023g0234 a0002c0002t0027g0051 a0002c0002t0027g0110 a0002c0002t0028g0090 a0002c0002t0028g0102 a0002c0002t0037g0035 a0002c0002t0038g0190 a0002c0002t0038g0191 a0002c0002t0046g0100 a0002c0002t0047g0109 a0002c0002t0048g0113 a0002c0002t0049g0137 a0002c0002t0050g0116 a0002c0002t0051g0101 a0002c0002t0052g0075 a0002c0002t0053g0111 a0002c0002t0054g0046 a0002c0002t0055g0079 a0002c0002t0056g0089 a0002c0002t0057g0104 a0002c0002t0061g0217 a0002c0002t0081g0189 a0007c0009t0082g0188	113	394	0.2868	-9	c.217 others(16): Show c.217_225delAAGAAGAAG	p.Lys others(11): Show p.Lys73_Lys75del	KIAA0040	ENSG00000235750.10	transcript	ENST00000423313.6	protein_coding	4/4	745/4548	217/300	73/99		chr1	TogoVar
KIF20B_chr10_89696590_89779934	89738577	AAAG AAAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp2 HG02280.hp1 HG02622.hp1 others(5): Show HG02145.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02965.hp1 HG02970.hp1 NA18522.hp1 NA19030.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0008 a0010c0010t0002 a0010c0010t0008	a0010c0010t0002g0032 a0010c0010t0002g0279 a0010c0010t0002g0280 others(4): Show a0010c0010t0002g0032 a0010c0010t0002g0279 a0010c0010t0002g0280 a0010c0010t0002g0282 a0010c0010t0002g0288 a0010c0010t0002g0291 a0010c0010t0008g0284	8	382	0.0209	-3	c.375 others(12): Show c.3751_3753delGAA	p.Glu others(7): Show p.Glu1251del	KIF20B	ENSG00000138182.15	transcript	ENST00000371728.8	protein_coding	20/33	3843/6441	3751/5463	1251/1820	INFO_REALIGN_3_PRIME	chr10	TogoVar
KIR2DL3_chr19_54733513_54758052	54751705	ATCC ATCC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02976.hp2 HG03130.hp2 HG03453.hp2 others(4): Show HG02976.hp2 HG03130.hp2 HG03453.hp2 NA18952.hp1 NA18967.hp2 NA19066.hp1 NA21309.hp1	a0000 a0000	a0000c0006 a0000c0010 a0000c0016 a0000c0006 a0000c0010 a0000c0016	a0000c0006t0005 a0000c0010t0006 a0000c0016t0012 a0000c0006t0005 a0000c0010t0006 a0000c0016t0012	a0000c0006t0005g0056 a0000c0006t0005g0057 a0000c0006t0005g0058 others(4): Show a0000c0006t0005g0056 a0000c0006t0005g0057 a0000c0006t0005g0058 a0000c0006t0005g0059 a0000c0010t0006g0053 a0000c0010t0006g0055 a0000c0016t0012g0052	7	312	0.0224	-3	c.781 others(10): Show c.781_783delCTC	p.Leu others(6): Show p.Leu261del	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding	6/8	814/1592	781/1026	261/341	INFO_REALIGN_3_PRIME	chr19	TogoVar
KLF18_chr1_44132821_44146631	44139729	TAGCAGAG others(35): Show TAGCAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18984.hp2 NA18984.hp2	a0020 a0020	a0020c0039 a0020c0039	a0020c0039t0000 a0020c0039t0000	a0020c0039t0000g0041 a0020c0039t0000g0041	1	428	0.0023	-42	c.186 others(51): Show c.1861_1902delGGTAACCAGGCCCTCTACGGGGGGCAGATGACAACC TCTGCT	p.Gly others(13): Show p.Gly621_Ala634del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	1902/3159	1861/3159	621/1052		chr1	TogoVar
KLF18_chr1_44132821_44146631	44140023	TAGTAGAG others(287): Show TAGTAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACCAGTGGAG GTTGTCATCTGCTCTCCACAGAGGTTCTGGTTACCAGTGGAGGTCATCAT CTGCCCCCAGTAGAGGGTCTGGTTACCAGTGGAGGTCATCATCTGCCCCC CGTAGAGGGCCTGGTTACCAGTGGAGGTCGTCACCTGCTCCCCACAGAGG GTCTGGTTACTAGTGGAGGTCGTCGTCTGCTCTCCACAGAGGGTCTGGTT ACTAGTGGAGGTCATCACTTGCTCTCCACAGAGGTTCTGGTTACC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG01261.hp2 HG01978.hp1 others(12): Show HG00280.hp1 HG01261.hp2 HG01978.hp1 HG02004.hp2 HG02148.hp2 HG02293.hp1 NA18939.hp2 NA18943.hp1 NA18951.hp2 NA18962.hp1 NA18975.hp1 NA18995.hp2 NA19007.hp2 NA19060.hp1 NA19070.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0000 a0006c0006t0000	a0006c0006t0000g0006 a0006c0006t0000g0006	15	428	0.0351	-294	c.131 others(9): Show c.1315_1608del	p.Gly others(13): Show p.Gly439_Thr536del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	1608/3159	1315/3159	439/1052		chr1	TogoVar
KLF18_chr1_44132821_44146631	44140275	TAGTGGAG others(77): Show TAGTGGAGGTCATCACTTGCTCTCCACAGAGGTTCTGGTTACCAGTGGAG GTCGTCATCTGCCCTCCACAGAGGGCTTGGTTACC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(303): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 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.hp1 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.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 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.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.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.hp1 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 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 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 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 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.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(19): Show a0001 a0003 a0004 a0007 a0008 a0009 a0011 a0012 a0013 a0015 a0016 a0021 a0022 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032	a0001c0001 a0001c0007 a0001c0011 others(27): Show a0001c0001 a0001c0007 a0001c0011 a0001c0013 a0001c0014 a0001c0018 a0003c0003 a0003c0019 a0004c0004 a0004c0026 a0007c0008 a0008c0009 a0009c0010 a0011c0015 a0012c0017 a0012c0025 a0013c0016 a0015c0020 a0016c0022 a0021c0035 a0022c0034 a0024c0030 a0025c0029 a0026c0023 a0027c0028 a0028c0027 a0029c0031 a0030c0033 a0031c0024 a0032c0040	a0001c0001t0000 a0001c0007t0000 a0001c0011t0000 others(27): Show a0001c0001t0000 a0001c0007t0000 a0001c0011t0000 a0001c0013t0000 a0001c0014t0000 a0001c0018t0000 a0003c0003t0000 a0003c0019t0000 a0004c0004t0000 a0004c0026t0000 a0007c0008t0000 a0008c0009t0000 a0009c0010t0000 a0011c0015t0000 a0012c0017t0000 a0012c0025t0000 a0013c0016t0000 a0015c0020t0000 a0016c0022t0000 a0021c0035t0000 a0022c0034t0000 a0024c0030t0000 a0025c0029t0000 a0026c0023t0000 a0027c0028t0000 a0028c0027t0000 a0029c0031t0000 a0030c0033t0000 a0031c0024t0000 a0032c0040t0000	a0001c0001t0000g0001 a0001c0001t0000g0026 a0001c0007t0000g0007 others(29): Show a0001c0001t0000g0001 a0001c0001t0000g0026 a0001c0007t0000g0007 a0001c0011t0000g0011 a0001c0013t0000g0013 a0001c0014t0000g0014 a0001c0018t0000g0018 a0003c0003t0000g0003 a0003c0003t0000g0029 a0003c0019t0000g0019 a0004c0004t0000g0004 a0004c0026t0000g0027 a0007c0008t0000g0008 a0008c0009t0000g0009 a0009c0010t0000g0010 a0011c0015t0000g0015 a0012c0017t0000g0017 a0012c0025t0000g0025 a0013c0016t0000g0016 a0015c0020t0000g0020 a0016c0022t0000g0022 a0021c0035t0000g0037 a0022c0034t0000g0036 a0024c0030t0000g0032 a0025c0029t0000g0031 a0026c0023t0000g0023 a0027c0028t0000g0030 a0028c0027t0000g0028 a0029c0031t0000g0033 a0030c0033t0000g0035 a0031c0024t0000g0024 a0032c0040t0000g0042	306	428	0.7150	-84	c.127 others(93): Show c.1273_1356delGGTAACCAAGCCCTCTGTGGAGGGCAGATGACGACC TCCACTGGTAACCAGAACCTCTGTGGAGAGCAAGTGATGACCTCCACT	p.Gly others(13): Show p.Gly425_Thr452del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	1356/3159	1273/3159	425/1052		chr1	TogoVar
KLF18_chr1_44132821_44146631	44140851	GGGTCTGG others(35): Show GGGTCTGGTTACCAGTGGAGGTCGTCATCTGTCTCCCGTAGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG01261.hp2 HG01978.hp1 others(16): Show HG00280.hp1 HG01261.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02148.hp2 HG02293.hp1 NA18939.hp2 NA18943.hp1 NA18951.hp2 NA18962.hp1 NA18965.hp2 NA18975.hp1 NA18981.hp2 NA18994.hp1 NA18995.hp2 NA19007.hp2 NA19060.hp1 NA19070.hp1	a0006 a0011 a0021 a0006 a0011 a0021	a0006c0006 a0011c0015 a0021c0035 a0006c0006 a0011c0015 a0021c0035	a0006c0006t0000 a0011c0015t0000 a0021c0035t0000 a0006c0006t0000 a0011c0015t0000 a0021c0035t0000	a0006c0006t0000g0006 a0011c0015t0000g0015 a0021c0035t0000g0037 a0006c0006t0000g0006 a0011c0015t0000g0015 a0021c0035t0000g0037	19	428	0.0444	-42	c.739 others(49): Show c.739_780delTTCTACGGGAGACAGATGACGACCTCCACTGGTAACCA GACC	p.Phe others(13): Show p.Phe247_Thr260del	KLF18	ENSG00000283039.1	transcript	ENST00000634670.1	protein_coding	1/2	780/3159	739/3159	247/1052		chr1	TogoVar
KLHL33_chr14_20420852_20441166	20429856	GTTCACTT others(5): Show GTTCACTTCCTGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18959.hp1 NA18959.hp1	a0034 a0034	a0034c0043 a0034c0043	a0034c0043t0001 a0034c0043t0001	a0034c0043t0001g0236 a0034c0043t0001g0236	1	480	0.0021	-12	c.160 others(21): Show c.1600_1611delGCAGGAAGTGAA	p.Ala others(13): Show p.Ala534_Glu537del	KLHL33	ENSG00000185271.9	transcript	ENST00000636854.3	protein_coding	3/5	1698/5478	1600/2394	534/797		chr14	TogoVar
KLHL34_chrX_21649690_21663330	21656801	ACTC ACTC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18969.hp1 NA18986.hp1 NA19055.hp1 NA18969.hp1 NA18986.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	3	265	0.0113	-3	c.985 others(10): Show c.985_987delGAG	p.Glu others(6): Show p.Glu329del	KLHL34	ENSG00000185915.5	transcript	ENST00000379499.3	protein_coding	1/1	1529/3641	985/1935	329/644		chrX	TogoVar
KLHL40_chr3_42680537_42697544	42691888	CGAG CGAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG01884.hp2 HG02258.hp1 others(4): Show HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02647.hp2 HG02886.hp1 HG03041.hp2 NA19240.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0007 a0005c0006t0002g0007	7	438	0.0160	-3	c.176 others(12): Show c.1768_1770delGAG	p.Glu others(6): Show p.Glu590del	KLHL40	ENSG00000157119.12	transcript	ENST00000287777.5	protein_coding	6/6	1850/2499	1768/1866	590/621	INFO_REALIGN_3_PRIME	chr3	TogoVar
KMT2B_chr19_35713003_35743878	35720452	AAAG AAAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp1 HG02647.hp2 HG03225.hp2 others(1): Show HG01891.hp1 HG02647.hp2 HG03225.hp2 NA20300.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0025 a0006c0008t0001g0083 a0006c0008t0001g0085 a0006c0008t0001g0025 a0006c0008t0001g0083 a0006c0008t0001g0085	4	396	0.0101	-3	c.111 others(12): Show c.1117_1119delGAA	p.Glu others(6): Show p.Glu373del	KMT2B	ENSG00000272333.8	transcript	ENST00000420124.4	protein_coding	3/37	1133/8485	1117/8148	373/2715	INFO_REALIGN_3_PRIME	chr19	TogoVar
KRT10_chr17_40813117_40827614	40818947	AGCCGCCG others(17): Show AGCCGCCGCTGGAACTGCCGCCGTG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02922.hp1 HG02976.hp2 HG02922.hp1 HG02976.hp2	a0024 a0028 a0024 a0028	a0024c0030 a0028c0018 a0024c0030 a0028c0018	a0024c0030t0006 a0028c0018t0006 a0024c0030t0006 a0028c0018t0006	a0024c0030t0006g0040 a0028c0018t0006g0021 a0024c0030t0006g0040 a0028c0018t0006g0021	2	426	0.0047	-24	c.156 others(33): Show c.1564_1587delCACGGCGGCAGTTCCAGCGGCGGC	p.His others(13): Show p.His522_Gly529del	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1616/2143	1564/1755	522/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40819013	TTCCGCCG others(20): Show TTCCGCCGCCGGAGCTTCCGCCTCCGTA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02074.hp1 HG02074.hp1	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0001 a0021c0026t0001	a0021c0026t0001g0035 a0021c0026t0001g0035	1	426	0.0024	-27	c.149 others(36): Show c.1495_1521delTACGGAGGCGGAAGCTCCGGCGGCGGA	p.Tyr others(13): Show p.Tyr499_Gly507del	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1550/2143	1495/1755	499/584		chr17	TogoVar
KRT10_chr17_40813117_40827614	40819055	TGCCGCCG others(5): Show TGCCGCCGTGGCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp1 HG00558.hp1 HG00558.hp2 others(93): Show HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02293.hp1 HG02683.hp2 HG02735.hp2 HG03139.hp2 HG03239.hp1 HG03492.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19091.hp1 NA20805.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0001c0020 a0018c0023 a0001c0001 a0001c0020 a0018c0023	a0001c0001t0001 a0001c0020t0001 a0018c0023t0001 a0001c0001t0001 a0001c0020t0001 a0018c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0020t0001g0024 a0018c0023t0001g0029	96	426	0.2254	-12	c.146 others(21): Show c.1468_1479delGGCCACGGCGGC	p.Gly others(13): Show p.Gly490_Gly493del	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1508/2143	1468/1755	490/584		chr17	TogoVar
KRT1_chr12_52669736_52685407	52675438	CACCTCCG others(14): Show CACCTCCGGAGCCGTAGCTGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(132): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0012 a0013	a0001c0001 a0001c0008 a0001c0024 others(4): Show a0001c0001 a0001c0008 a0001c0024 a0005c0009 a0007c0007 a0012c0021 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0008t0001 a0001c0024t0001 a0005c0009t0002 a0007c0007t0001 a0012c0021t0001 a0013c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0002g0010 a0001c0001t0005g0047 a0001c0001t0007g0046 a0001c0008t0001g0020 a0001c0024t0001g0057 a0005c0009t0002g0022 a0007c0007t0001g0017 a0012c0021t0001g0050 a0013c0020t0001g0048	135	398	0.3392	-21	c.166 others(30): Show c.1669_1689delAGCAGCTACGGCTCCGGAGGT	p.Ser others(13): Show p.Ser557_Gly563del	KRT1	ENSG00000167768.4	transcript	ENST00000252244.3	protein_coding	9/9	1748/2451	1669/1935	557/644		chr12	TogoVar
KRT33A_chr17_41341092_41355828	41350492	TGACCGCT others(5329): Show TGACCGCTCCCGGATGAGGTTCTCCAGCTCCGCGTTGTCCCGCTCCAGCT GACGCACCTTCTCCAGGTAGCTGGCCAGGCGGTCGTTCAGGAACTGCATG GTCTCCTTCTCACTGCCATTGAAGGAGCCCTCACAGAACCAGTTGCAGTT GCTCACATTGGCGGGGATGTTGCAGGCCCCGGGCAGGGTGCAGCCGTGGC AGCTGGGGGGCACACAGGGCCGGGAGGAGCAGCTGGTGCGGCAGCTCAGG CTGGGCAGGCCACAACTGTAAGACATGGTGCAGGGAGGGAGTGTCCAGCT GAAGACAGAGTCCAAAATCTCCAGGTTGTAGAGCGGTGGGTCTCCTTCCT CCAGGGAGCATTTATACCTCGTCCATGGAGGGTGTGGACACGTAAGACAA CCCCTTTTTTTTTTTTTTTTTTTTGCTCATTTGGTGATTGTCAAAAGCCC TTCCCTCCATTTGTTGTGTTTCTTCAGAAGAGTCTCTCCCCTCATAAAAT ACTTTACTTGGGCTTCTCGCTAAGTCGGGACTCCTCTTCCATGCTGTGTG TCATGATGTAAGAGCTTCATGGTGTGACTTCAAAGACCTGGACTCATGAA AGCCCTGGCCTTCTTCAGTGGGGTGCAGCAGGTCAAGAGACAGTATTGCT GTTCTGCTTTGTGGCTTGAGGCCCCTAACTCTTTGGCAAGCTCTGGCTCT CCTTGGTGAAATGGAAAAGCATAGCTCTTGCCCTGTGTCTTTTGCTAGGT CACATTTCCAAGTGCCAAATTCCAAATTCATGGTTCTCAGAAAGAGGAAT AGATCCTTTCTGGGACAGTTCCTGATGGCCATGTTTCCTGATATGATGGG CTTTTTTCATGTCCATGATGACGTCAATCAACCAAATAATAGATATCCAC TATGACAATTTCATCCAGGGCGATGTAATAGACACTGGGAGGGGTGGAAA ATAGGACTCAATGCTATGGTCAGAAGAAGTTCTTACTTGTTAAGAAACTG CACAAGCCCAAGGTAGTGTGGACACTTTTCACAAACTAGATCCTTTTTAC AAACATGATCCTCAAACATGCAGAACTTAGATGTCCATTATTCCTCACCA GAACTCTTAAAGGTAAACTGTATAATTCCCATTTTATAGATGAGAACACC AAGGCATAGAGGGTGAGGATAATAAGTTGTGGACCTAGGATTCCAAAGCA GATCACTTTTCTTTTCATCACAACACTTGGCTTAAATATAAATGGCTTAC TTCCTTCCCTTCTTCAGACAGGCCGTCCCTTTCTCCTCTCCAAGCTCTCT TTTTACCTTGAGCATGACACTGTCATGACTTATGTGCTTGTCTCTCTGTC TCTATTTGAGGTCCCTGAAGGCAAGGGCAGGGTCTAGTTTGTCTTTGAAT CCCCAGCTCTAGGCACCTGGTAGGCACTGTTGAATGGGTGTGGGTAGAGT GATGAAGGGATGAACAGGAAATAATAATCTGAGGCAGAAGTTGACAAGTG ATAACTGAGTGGTTTACACACTGGGGAGGGCGAGCAGCTCCAGGATTGGA GGCTCTTAGGAATGGATGAATGGATTTGTGCTGGGATAGGGAGGCTTCTA AGAAGCAGAGGGGAGAAAAGTAGGAAGTGCAGGTGAGGAGAATAATGTGC ACACAGGAATGGGGTGGGAAAGCCCAAGGCATGGTTGAAGGACCAGGGTA AGTCTAGGCAGCAGGAAGGGGAGAGTTGTGAAGGGAAGTGCTAGAAATTA AAGCTTTATGGGGGATTGTATGGGGACCCTATGGTAGGGGGTCTCGATGG TGAAGTGGAGCAGCTTGGACTTCCCCAGAAGCTGTAGAGCCAGTATAAGC TTTTGAACCTAAGTGTGGTGTGACAAAAGGTGTTTTAGGAAATGTTTTAG CAAATATTTATCTGTTTTTGAAAAATGAAGGAAAGATTGGAGGCAAAGAG TTCAGCAAAGAGACTATTGCAACAGTCCATGCAAGACTAGAATTTATGGC AGGGATGATGATACAGATAAGGTTTAGTACAAGTGAGAGAGTTAGAGAAC TGGGCCAAGGGAGAGTACAAAGAGAAGAGCAACAAGGAGCTGAGGACCAA ACTTTGGAGAATTTCCCAATCAGAGATCAGGAGAAGGAAAAAGAATCTGT GATAAATGGAGAAATGGTGAGAAAAAAATGATAAAAACAAGTTCATGGCA TCCCAGAAGGGCAGGAAGGAGGGTGCTTCCAAGAGGAGGTGATGTTAGAA GTGCCAAGTGCAGCAAAGGGGCCGCACATGATCAGGACCATGGAGAGGGT ATTGGCTGCCTTGACCAGAAATTTACCAGGACCTTTCCAGGGTCACACAG GTATGCCTGCTGTACGCAGCGCCTGTGCACATTCTTAAAGTAATGCCCAC AGTGAACTTCGGTAAACCAAGACTTCAAACACACAGAATTGAGATGTTCA TTACTTAGAGAAGTTCTGCTGCAATAAATTTATATATCTGATTATTAAGC TTGGAGCTTTGATCTTACCAATACAGACTTTTATACAATAATTGGAGTGG GCTTTACGCAGATGCCAGACTTGTTTGAACTTGATGATTCGTAATAGTTT ATTATTTAGGAACAATTATCCAAGAAGCATGAGTAATCTGAACTGACCGT GCATATGACACCACTTCTGTTTTGTCACAAGATGTAAGATGAGCCTTATT TGATATCCTAAAGAGGCAATGAGGAAAAAATTCAAGTATGGGCCTGAGGA GGCATACATTGGCCAGAAAGAGGAGGGGCTTCCTATGTCCTTGCTAGCAG AGGATAAAGCAGACAACAGATTCCAAGCCTCCCAGCTACAGCTACCAATC CAAGCAGCTTCCAAGCCTCCCAGCTACAGCTACAGACCAAAAACCAGATG GCTTTGCATTTGGCTCTTCTCTTCCTCCCTCTTACCTCCTAACATAGATC CTAAATATGAAAATGGTTAAAAGAGAGAGGGAAAATCTTGGAACAAGATA TTGGGGATCCTAATGGTCAACTCATCCAAACCGTTCGTTTTACGAAGGGG AAACTGAGGCTCAGAATGGAGAAATGCCTTGCTTAGTATCATCTAGCTAG GACCCAGATCTTCTGATTCCCACTGCATTATCAGCCCAATCACCATTCTA CTGAAATGTTGAAGAATTTCACAAACAATCTGATCTGTTATTACCTAAGG ACAGAAATCAAGGGCAGTGAGAAAAACATCTTGTTAACCATAGATATGCT GTGTTGAAGAAGAATTATGAGTCAATGTGTAAATAAAGATAGAATTCAGC AATAGTACAGTTTCTTGTTAACTCTCTGATTTCAATTATTTCTAAGTTGA TGATACAATTATATACCAACAATTTGGAGTAATTTAAACATAATTATATC CCATCAGATATAGATTATATCCCATCTGTTTGGAGCAACTTAGAACAATT GGTCAAACAATGGTGACCCTACTCGACAGCAATATGCTTATCCAGAGTAA GGTACACAAAAGATAGTCACAACAAAATTAAACTATTATTAAAATGGGGA CAATTGAGAGATTAAAGAAAACACACCACAATGACACTGGATGCTATTAA ATGACAGGATTATGAATGTTTTTTTTCTTCTCTCCAAATTCTTTGAAAAT ATATGTTACTTCTGCACAATAAACAAAATAAAATTTACATTTAAAATTTC AGAAGGAAATTCTTGCAAATCTTCTAGAGGAACAATGAGTTATTAAAAAA AAAAAGCCTAGGAGGCTCCTGTTCCAATATAATTACTACATTACACTTGA GCCTGTTCTAGAAATAAAGTCTTTGTTGTGATCGGCATTCATGCCCTTGT GATATCTGCTGACTTTGTCCATTCCAAAGGTGAGCTACTAAGAAGGAATG AAGGGAAATCAAGCTACCTATAGCTCATGAATTGACTGGCATGAGGTCTG AGCTTCGGGTGAAGGAGAAGACAAGGAGGAGTAACCCTTGGAGAAACATT CTGCCATTGACTGCTAGCCCATGGTCCAAGATTGGCTGCTAGAACCACCT CATATTGACCCGCATCCATAGACTATACTTCCCACATACACATAAGGGAT AATTAAATTTCTTTTCTGGAAATACTATCTAAGTCAGATAAAGCCTACAG GCTTAGCATGCTGGAGTTACCAAGGACCTAACTGGTCATTTCACTCAACT CTTTCATTTTAAAAATGGGATAACTTTGACCCAAAAGGGGAAGTGACTTG CCCAAACTTGCAGAGAGCTTGTGAAAGAGTCTAAACTGAAAGAGGATAAA TTAGACTAAAGAAATAGGATAAGGCTTTTAGTCTTTATGAGAGAGTTCAG GCGGAGACCACCGAACGATGCAAGTCTCTCTAAACACTAAACCCTTAGTA AAAAGGTGAACTAGAAAAATAAAGGATGCTTGTTGTTAAAGGAAAACTTT AAAAAGCTGAACTATCTATCTCTTAGTGGGCTCTAATTTTAAAATTATAA TAGTAAATAATAGTAAATAGTAAAATAGTAAAAAAAAAAAGTAAATAGTA AAAATCTCCTTTGAGATTGTTAAACTAGTGACCTATTTATCATTAAGGTT TGGGGGTTGAATCAATGCAAGAACCTTCATGCTGATAAATTAACAAAACA CCCAAGGAAATAACTCACAATTAGCAAGGAGGAGAAGATACAAGAAACAG AAGGTTAAAGCCAAGTATATTAAATAACTATGTTTAAAGAGCTTATACGA CAAAATAAGGAATCAAATCCCTAAAAGAAAATGGTAGCCACTATGCAAAA AGTATAGGCATGTTTAAAAAAAAAATGTCAAACAACTTCTAAAAGTGAAG AGTATAATTTAAAGTGCAAATTTTAAGTGTAAAATTTCATCACTAGGTCT TTTGTGGCTTCAAAAAATCAAAATTTTCTTTTGATATCAATAATATTATT CAGGGTGCTAAATTTTCACTCATCTCCTACTGAACTAATGAAATTTTAAT TAAAAACAAAGTTTTAGCTCTCATAATTCTATTGGACATTTTTAGATATT TTATACTTCTCCTATTAAGTCACAGCAATTGTTTAATTGTTGCATTTGTT CTGTCAGCTTAATTTTATTAATAATTGTTCCACAGAGCTTCACAGAAATA TTTTAACAGAGTTCTAGGAGTCAATAAATTTAATTGTTTTACTTTTTTCA TTAAATGACAAATTCATTTTTATAAAATTAAGTTGACTCCTAATAGATTT TGTCTGGGAATTGATGTAATTTTGTTAGTTTTTACATGGAATGTTGCATT TATTCATTTCTGTTAAGATATAAAATATGCATTTCTG	T T	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	HG02145.hp1 HG02258.hp1 HG02280.hp2 others(7): Show HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02809.hp2 HG02896.hp1 HG03453.hp1 NA19043.hp1 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0006 a0003c0004t0002g0006	10	449	0.0223	-5336	c.-50 others(9): Show c.-5061_275del	p.Met others(10): Show p.Met1_Ser92del	KRT33A	ENSG00000006059.4	transcript	ENST00000007735.4	protein_coding	1/7	336/1303	1/1215	1/404		chr17	TogoVar
KRT78_chr12_52832807_52853994	52848813	TCCTGCTG others(11): Show TCCTGCTGCTGAAGCCGCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01952.hp1 HG01952.hp1	a0021 a0021	a0021c0024 a0021c0024	a0021c0024t0001 a0021c0024t0001	a0021c0024t0001g0093 a0021c0024t0001g0093	1	410	0.0024	-18	c.100 others(25): Show c.100_117delGGCGGCTTCAGCAGCAGG	p.Gly others(11): Show p.Gly34_Arg39del	KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	1/9	181/2933	100/1563	34/520		chr12	TogoVar
KRTAP1-4_chr17_41024351_41035195	41029985	TCTGGCAG others(8): Show TCTGGCAGCAGCTTGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18951.hp2 NA18959.hp2 NA18951.hp2 NA18959.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	2	429	0.0047	-15	c.79_ others(20): Show c.79_93delCCAAGCTGCTGCCAG	p.Pro others(11): Show p.Pro27_Gln31del	KRTAP1-4	ENSG00000204887.5	transcript	ENST00000377747.5	protein_coding	1/1	210/845	79/366	27/121		chr17	TogoVar
KRTAP10-11_chr21_44641414_44652650	44646960	TGCTGCCA others(134): Show TGCTGCCAGCAGTCTAGCTGCCAGCCAGCTTGCTGCACCTCCTCCTCCTA CCAGCAGGCCTGCTGCGTGCCTGTCTGCTGCAAGACTGTCTACTGCAAGC CCATCTGCTGTGTGCCTGTCTGCTCTAGGGCTTCCTCTTCAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03225.hp1 HG03225.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0001 a0014c0025t0001	a0014c0025t0001g0000 a0014c0025t0001g0000	1	422	0.0024	-141	c.514 others(7): Show c.514_654del	p.Ser others(13): Show p.Ser172_Gln218del	KRTAP10-11	ENSG00000243489.4	transcript	ENST00000334670.9	protein_coding	1/1	559/1237	514/897	172/298	INFO_REALIGN_3_PRIME	chr21	TogoVar
KRTAP10-1_chr21_44533981_44545195	44539457	CGGA CGGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02280.hp1 HG02280.hp2 HG02451.hp2 others(12): Show HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp1	a0004 a0007 a0004 a0007	a0004c0004 a0007c0010 a0004c0004 a0007c0010	a0004c0004t0001 a0007c0010t0001 a0004c0004t0001 a0007c0010t0001	a0004c0004t0001g0000 a0007c0010t0001g0000 a0004c0004t0001g0000 a0007c0010t0001g0000	15	438	0.0343	-3	c.691 others(10): Show c.691_693delTCC	p.Ser others(6): Show p.Ser231del	KRTAP10-1	ENSG00000215455.4	transcript	ENST00000400375.1	protein_coding	1/1	738/1215	691/849	231/282		chr21	TogoVar
KRTAP10-2_chr21_44545357_44556505	44550876	ACTTGCAG others(8): Show ACTTGCAGCAGACAGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00639.hp2 HG00642.hp1 HG00673.hp2 others(121): Show HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02735.hp2 HG02896.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0002 a0009 a0012 a0002 a0009 a0012	a0002c0002 a0002c0017 a0009c0012 others(1): Show a0002c0002 a0002c0017 a0009c0012 a0012c0020	a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0014 a0002c0017t0002 a0009c0012t0002 a0012c0020t0002	a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0011g0000 others(4): Show a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0011g0000 a0002c0002t0014g0000 a0002c0017t0002g0000 a0009c0012t0002g0000 a0012c0020t0002g0000	124	464	0.2672	-15	c.568 others(22): Show c.568_582delCCTGTCTGCTGCAAG	p.Pro others(13): Show p.Pro190_Lys194del	KRTAP10-2	ENSG00000205445.3	transcript	ENST00000391621.1	protein_coding	1/1	629/1149	568/768	190/255		chr21	TogoVar
KRTAP10-4_chr21_44568729_44580371	44574451	CGTCTGCT others(8): Show CGTCTGCTGCAAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01258.hp1 HG01258.hp1	a0000 a0000	a0000c0047 a0000c0047	a0000c0047t0005 a0000c0047t0005	a0000c0047t0005g0000 a0000c0047t0005g0000	1	476	0.0021	-15	c.706 others(22): Show c.706_720delACTGTCTGCTGCAAG	p.Thr others(13): Show p.Thr236_Lys240del	KRTAP10-4	ENSG00000215454.7	transcript	ENST00000400374.4	protein_coding	1/1	736/1643	706/1206	236/401	INFO_REALIGN_3_PRIME	chr21	TogoVar
KRTAP10-6_chr21_44586268_44597505	44591710	CTGGCTGG others(119): Show CTGGCTGGCAGCTAGACTGCTGGCAGCATGAAGAGGAATCCTCAGAGCAG GTGGGCACACAGCACACAGGCACGCAGCAGACGGGCACGCAGCAGGCCTG CTGGCAGGGGGAGGAGGTGCAGCAAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02451.hp2 HG02451.hp2	a0041 a0041	a0041c0050 a0041c0050	a0041c0050t0001 a0041c0050t0001	a0041c0050t0001g0000 a0041c0050t0001g0000	1	428	0.0023	-126	c.649 others(7): Show c.649_774del	p.Thr others(13): Show p.Thr217_Pro258del	KRTAP10-6	ENSG00000188155.11	transcript	ENST00000400368.1	protein_coding	1/1	795/1238	649/1098	217/365		chr21	TogoVar
KRTAP10-7_chr21_44595597_44607174	44600740	GCTGCTGC others(569): Show GCTGCTGCGAGCCCCCCTGCTGCGCCCCGGCCCCCTGCCTGAGCCTGGTC TGCACCCCAGTGAGCTATGTGTCCAGCCCCTGCTGCCGAGTGACCTGTGA GCCCAGCCCCTGCCAATCAGGCTGCACCAGCTCCTGCACGCCCTCGTGCT GCCAGCAGTCTAGCTGCCAGCTGGCTTGCTGTGCCTCCTCCCCCTGCCAG CAGGCCTGCTGCGTGCCCGTCTGCTGCAAGACTGTCTGCTGCAAGCCTGT GTACTGTGTGCCTGTCTGCAGTGGGGATTCTTCATGCTGCCAGCAGTCTA GCTGCCAGTCAGCTTGCTGCACCTCCTCCCCCTGCCAGCAGGCCTGCTGT GTGCCCATCTGCTGCAAGCCTGTCTGCTCTGGGATTTCCTCTTCGTGCTG CCAGCAGTCTAGCTGTGTGAGCTGTGTGTCCAGTCCCTGCTGCCAGGCGG TCTGTGAGCCCAGCCCCTGCCAATCAGGCTGCATCAGCTCCTGCACGCCC TCGTGCTGCCAGCAGTCTAGCTGCAAGCCGGCTTGCTGCACCTCCTCCCC TTGCCAGCAGGCCTGCTGTGTGCCTGT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03579.hp1 HG03579.hp1	a0034 a0034	a0034c0035 a0034c0035	a0034c0035t0002 a0034c0035t0002	a0034c0035t0002g0000 a0034c0035t0002g0000	1	446	0.0022	-576	c.127 others(7): Show c.127_702del	p.Glu others(12): Show p.Glu43_Cys234del	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding	1/1	152/1578	127/1113	43/370	INFO_REALIGN_3_PRIME	chr21	TogoVar
KRTAP17-1_chr17_41309912_41320710	41315500	TGCCCCCG others(8): Show TGCCCCCGCAGCCAGA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp2 HG00544.hp2 HG00639.hp2 others(105): Show HG00408.hp2 HG00544.hp2 HG00639.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG06807.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18948.hp2 NA18950.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18993.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19072.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0003c0005 a0002c0002 a0003c0004 a0003c0005	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(2): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0003c0004t0001 a0003c0005t0001	a0002c0002t0002g0000 a0002c0002t0004g0000 a0002c0002t0005g0000 others(2): Show a0002c0002t0002g0000 a0002c0002t0004g0000 a0002c0002t0005g0000 a0003c0004t0001g0000 a0003c0005t0001g0000	108	413	0.2615	-15	c.136 others(22): Show c.136_150delTCTGGCTGCGGGGGC	p.Ser others(11): Show p.Ser46_Gly50del	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding	1/1	210/799	136/318	46/105		chr17	TogoVar

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