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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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	distance	status	chr	external
KRBA2_chr17_8353822_8381704	8372161	GAAGGTCC others(8): Show GAAGGTCCTTCACTAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0144 a0001c0002t0144	a0001c0002t0144g0163 a0001c0002t0144g0163	1	388	0.0026	-15	c.-20 others(32): Show c.-20-1790_-20-1776delTTAGTGAAGGACCTT		KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1						chr17	TogoVar
KRBA2_chr17_8353822_8381704	8377148	AAGTCATC others(8): Show AAGTCATCTAGAAGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02258.hp2 others(7): Show HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02486.hp2 HG02809.hp1 HG03225.hp2 HG03471.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0021 a0001c0001t0028 a0001c0001t0189 others(2): Show a0001c0001t0021 a0001c0001t0028 a0001c0001t0189 a0001c0001t0214 a0001c0010t0215	a0001c0001t0021g0230 a0001c0001t0021g0232 a0001c0001t0021g0233 others(5): Show a0001c0001t0021g0230 a0001c0001t0021g0232 a0001c0001t0021g0233 a0001c0001t0021g0234 a0001c0001t0028g0007 a0001c0001t0189g0231 a0001c0001t0214g0329 a0001c0010t0215g0330	10	388	0.0258	-15	c.-12 others(26): Show c.-1284_-1270delAGCTTCTAGATGACT		KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding					445		chr17	TogoVar
KRR1_chr12_75485863_75516609	75500511	GATTAATT others(8): Show GATTAATTCATTGAAT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00597.hp2 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0039 a0002c0002t0036 a0002c0002t0039	a0002c0002t0036g0140 a0002c0002t0039g0146 a0002c0002t0036g0140 a0002c0002t0039g0146	2	368	0.0054	-15	c.100 others(32): Show c.1004-575_1004-561delATTCAATGAATTAAT		KRR1	ENSG00000111615.14	transcript	ENST00000229214.9	protein_coding	9/9						chr12	TogoVar
KRT10_chr17_40813117_40827614	40818999	GCCGCCGC others(8): Show GCCGCCGCCGGAGCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG00621.hp2 HG00673.hp1 others(37): Show HG00438.hp1 HG00621.hp2 HG00673.hp1 HG01081.hp2 HG01109.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02155.hp1 HG02155.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18944.hp2 NA18954.hp1 NA18961.hp1 NA18969.hp2 NA18970.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19001.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19083.hp2 NA20905.hp2	a0006 a0010 a0025 a0006 a0010 a0025	a0006c0005 a0010c0011 a0025c0031 a0006c0005 a0010c0011 a0025c0031	a0006c0005t0001 a0010c0011t0001 a0025c0031t0001 a0006c0005t0001 a0010c0011t0001 a0025c0031t0001	a0006c0005t0001g0004 a0010c0011t0001g0010 a0025c0031t0001g0041 a0006c0005t0001g0004 a0010c0011t0001g0010 a0025c0031t0001g0041	40	426	0.0939	-15	c.152 others(24): Show c.1521_1535delAAGCTCCGGCGGCGG	p.Ser others(13): Show p.Ser508_Gly512del	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1564/2143	1521/1755	507/584			chr17	TogoVar
KRT10_chr17_40813117_40827614	40819077	GCCGCCGC others(8): Show GCCGCCGCCGGAGCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02970.hp1 HG03669.hp2 HG02970.hp1 HG03669.hp2	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0020 a0015c0017t0001g0020	2	426	0.0047	-15	c.144 others(24): Show c.1443_1457delAAGCTCCGGCGGCGG	p.Ser others(13): Show p.Ser482_Gly486del	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1486/2143	1443/1755	481/584			chr17	TogoVar
KRT14_chr17_41577279_41591895	41584049	CAATCTCT others(8): Show CAATCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0050 a0001c0008t0001g0050	1	330	0.0030	-15	c.766 others(30): Show c.766-143_766-129delAGAGAGAGAGAGATT		KRT14	ENSG00000186847.6	transcript	ENST00000167586.7	protein_coding	3/7						chr17	TogoVar
KRT1_chr12_52669736_52685407	52680016	TCCACCAA others(8): Show TCCACCAAAGCCACCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02622.hp1 NA18971.hp1 HG02622.hp1 NA18971.hp1	a0016 a0017 a0016 a0017	a0016c0013 a0017c0014 a0016c0013 a0017c0014	a0016c0013t0001 a0017c0014t0001 a0016c0013t0001 a0017c0014t0001	a0016c0013t0001g0027 a0017c0014t0001g0026 a0016c0013t0001g0027 a0017c0014t0001g0026	2	398	0.0050	-15	c.318 others(22): Show c.318_332delTGGTGGCTTTGGTGG	p.Gly others(13): Show p.Gly107_Gly111del	KRT1	ENSG00000167768.4	transcript	ENST00000252244.3	protein_coding	1/9	391/2451	318/1935	106/644			chr12	TogoVar
KRT25_chr17_40743021_40760331	40753683	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0068 a0003c0003t0002g0068	1	426	0.0024	-15	c.669 others(30): Show c.669+162_669+176delTTTTTTTTTTTTTTT		KRT25	ENSG00000204897.7	transcript	ENST00000312150.5	protein_coding	3/7						chr17	TogoVar
KRT25_chr17_40743021_40760331	40756762	TGTATGTC others(8): Show TGTATGTCTTTTGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	426	0.0024	-15	c.-15 others(26): Show c.-1506_-1492delTCTCAAAAGACATAC		KRT25	ENSG00000204897.7	transcript	ENST00000312150.5	protein_coding					1432		chr17	TogoVar
KRT27_chr17_40771808_40787550	40786298	CAGAAAAA others(8): Show CAGAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02965.hp2 HG01081.hp1 HG02965.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0004 a0004c0003t0001g0042 a0004c0003t0001g0004 a0004c0003t0001g0042	2	464	0.0043	-15	c.-38 others(26): Show c.-3820_-3806delTTTTTTTTTTTTTCT		KRT27	ENSG00000171446.7	transcript	ENST00000301656.4	protein_coding					3749		chr17	TogoVar
KRT39_chr17_40953417_40971948	40953770	GTGAGAGA others(8): Show GTGAGAGAGAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0008 a0004c0005t0003g0008	1	423	0.0024	-15	c.48 others(26): Show c.4816_*4830delTCTTTCTCTCTCTCA		KRT39	ENSG00000196859.8	transcript	ENST00000355612.7	protein_coding					4646		chr17	TogoVar
KRT72_chr12_52580589_52606463	52588574	TGGTTGAT others(8): Show TGGTTGATAGGTGATG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02257.hp1 others(6): Show HG01109.hp2 HG01884.hp1 HG02257.hp1 HG02572.hp2 HG02615.hp1 HG02886.hp2 HG02970.hp1 HG03041.hp2 NA19240.hp2	a0002 a0007 a0002 a0007	a0002c0008 a0007c0007 a0002c0008 a0007c0007	a0002c0008t0001 a0007c0007t0001 a0002c0008t0001 a0007c0007t0001	a0002c0008t0001g0013 a0002c0008t0001g0099 a0007c0007t0001g0100 a0002c0008t0001g0013 a0002c0008t0001g0099 a0007c0007t0001g0100	9	432	0.0208	-15	c.109 others(32): Show c.1090-738_1090-724delCATCACCTATCAACC		KRT72	ENSG00000170486.11	transcript	ENST00000293745.7	protein_coding	6/8						chr12	TogoVar
KRT77_chr12_52684626_52708524	52689425	GAGAGGAG others(8): Show GAGAGGAGGAGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	420	0.0024	-15	c.17 others(26): Show c.1725_*1739delTCCTCCTCCTCCTCT		KRT77	ENSG00000189182.10	transcript	ENST00000341809.8	protein_coding					200		chr12	TogoVar
KRT82_chr12_52388931_52411335	52404553	ACCCGGCT others(8): Show ACCCGGCTGGACATTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0081 a0006c0007t0009g0081	1	370	0.0027	-15	c.412 others(30): Show c.412-659_412-645delCAATGTCCAGCCGGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding	1/8						chr12	TogoVar
KRT82_chr12_52388931_52411335	52405764	CCTCCTCA others(8): Show CCTCCTCAATGTCAGT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	370	0.0027	-15	c.411 others(29): Show c.411+88_411+102delACTGACATTGAGGAG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding	1/8						chr12	TogoVar
KRT83_chr12_52309301_52326398	52312217	TGCATCAC others(8): Show TGCATCACTGCCAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02723.hp1 others(1): Show HG01884.hp1 HG02109.hp2 HG02723.hp1 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0007 a0003c0003t0002g0011 a0003c0003t0002g0058 a0003c0003t0002g0007 a0003c0003t0002g0011 a0003c0003t0002g0058	4	428	0.0094	-15	c.23 others(26): Show c.2399_*2413delCTCTGGCAGTGATGC		KRT83	ENSG00000170523.3	transcript	ENST00000293670.3	protein_coding					2083		chr12	TogoVar
KRT86_chr12_52269645_52314163	52312217	TGCATCAC others(8): Show TGCATCACTGCCAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02723.hp1 others(1): Show HG01884.hp2 HG02109.hp1 HG02723.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0330 a0001c0001t0005g0340 a0001c0001t0005g0038 a0001c0001t0005g0330 a0001c0001t0005g0340	4	414	0.0097	-15	c.36 others(26): Show c.3633_*3647delGCATCACTGCCAGAG		KRT86	ENSG00000170442.12	transcript	ENST00000423955.7	protein_coding					3055		chr12	TogoVar
KRT8_chr12_52892191_52910076	52903858	GCCCACCC others(8): Show GCCCACCCCACCCCAC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03490.hp2 HG03831.hp1 others(1): Show HG01106.hp2 HG03490.hp2 HG03831.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0070 a0001c0001t0002g0022 a0001c0001t0002g0070	4	386	0.0104	-15	c.324 others(30): Show c.324+785_324+799delGTGGGGTGGGGTGGG		KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding	1/7						chr12	TogoVar
KRTAP1-3_chr17_41028884_41039874	41029985	TCTGGCAG others(8): Show TCTGGCAGCAGCTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18959.hp1 NA18951.hp2 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	435	0.0046	-15	c.43 others(26): Show c.4318_*4332delCCAAGCTGCTGCCAG		KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding					3898		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41032329	CGGGGGTA others(8): Show CGGGGGTAGGGTGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	435	0.0023	-15	c.19 others(26): Show c.1974_*1988delCACCACCCTACCCCC		KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding					1554		chr17	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
KRTAP1-4_chr17_41024351_41035195	41032329	CGGGGGTA others(8): Show CGGGGGTAGGGTGGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	429	0.0023	-15	c.-22 others(26): Show c.-2266_-2252delCACCACCCTACCCCC		KRTAP1-4	ENSG00000204887.5	transcript	ENST00000377747.5	protein_coding					2135		chr17	TogoVar
KRTAP1-5_chr17_41021026_41032208	41029985	TCTGGCAG others(8): Show TCTGGCAGCAGCTTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18959.hp2 NA18951.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	429	0.0047	-15	c.-28 others(26): Show c.-2845_-2831delCCAAGCTGCTGCCAG		KRTAP1-5	ENSG00000221852.5	transcript	ENST00000361883.6	protein_coding					2778		chr17	TogoVar
KRTAP10-10_chr21_44632356_44643455	44637695	CCTGCTGT others(8): Show CCTGCTGTGTGCCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(193): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0002 a0004 a0005 others(11): Show a0002 a0004 a0005 a0008 a0009 a0013 a0015 a0016 a0018 a0023 a0027 a0032 a0033 a0039	a0002c0002 a0002c0011 a0002c0020 others(21): Show a0002c0002 a0002c0011 a0002c0020 a0002c0034 a0002c0036 a0002c0037 a0002c0038 a0004c0004 a0004c0056 a0005c0006 a0008c0008 a0009c0012 a0009c0042 a0013c0027 a0013c0046 a0015c0015 a0016c0016 a0018c0045 a0018c0062 a0023c0035 a0027c0061 a0032c0041 a0033c0040 a0039c0051	a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 others(25): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 a0002c0011t0001 a0002c0020t0001 a0002c0034t0001 a0002c0036t0001 a0002c0037t0001 a0002c0038t0001 a0004c0004t0001 a0004c0004t0010 a0004c0056t0001 a0005c0006t0003 a0005c0006t0013 a0008c0008t0001 a0009c0012t0001 a0009c0042t0001 a0013c0027t0003 a0013c0046t0002 a0015c0015t0004 a0016c0016t0003 a0018c0045t0001 a0018c0062t0001 a0023c0035t0001 a0027c0061t0003 a0032c0041t0001 a0033c0040t0001 a0039c0051t0001	a0002c0002t0001g0000 a0002c0002t0004g0000 a0002c0002t0012g0000 others(25): Show a0002c0002t0001g0000 a0002c0002t0004g0000 a0002c0002t0012g0000 a0002c0011t0001g0000 a0002c0020t0001g0000 a0002c0034t0001g0000 a0002c0036t0001g0000 a0002c0037t0001g0000 a0002c0038t0001g0000 a0004c0004t0001g0000 a0004c0004t0010g0000 a0004c0056t0001g0000 a0005c0006t0003g0000 a0005c0006t0013g0000 a0008c0008t0001g0000 a0009c0012t0001g0000 a0009c0042t0001g0000 a0013c0027t0003g0000 a0013c0046t0002g0000 a0015c0015t0004g0000 a0016c0016t0003g0000 a0018c0045t0001g0000 a0018c0062t0001g0000 a0023c0035t0001g0000 a0027c0061t0003g0000 a0032c0041t0001g0000 a0033c0040t0001g0000 a0039c0051t0001g0000	196	438	0.4475	-15	c.291 others(22): Show c.291_305delTGTCTGCTGTGTGCC	p.Val others(12): Show p.Val98_Pro102del	KRTAP10-10	ENSG00000221859.2	transcript	ENST00000380095.2	protein_coding	1/1	353/1100	291/756	97/251		INFO_REALIGN_3_PRIME	chr21	TogoVar
KRTAP10-10_chr21_44632356_44643455	44637708	TGTCTGCT others(8): Show TGTCTGCTGTGTGCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01167.hp1 HG01175.hp2 HG01192.hp2 others(12): Show HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01433.hp2 HG02055.hp2 HG02109.hp2 HG02486.hp1 HG02683.hp1 HG02735.hp2 HG03669.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18989.hp2 NA20905.hp1	a0005 a0023 a0030 others(1): Show a0005 a0023 a0030 a0036	a0005c0007 a0005c0017 a0005c0039 others(3): Show a0005c0007 a0005c0017 a0005c0039 a0023c0054 a0030c0058 a0036c0055	a0005c0007t0001 a0005c0007t0015 a0005c0017t0008 others(5): Show a0005c0007t0001 a0005c0007t0015 a0005c0017t0008 a0005c0017t0009 a0005c0039t0008 a0023c0054t0001 a0030c0058t0006 a0036c0055t0001	a0005c0007t0001g0000 a0005c0007t0015g0000 a0005c0017t0008g0000 others(5): Show a0005c0007t0001g0000 a0005c0007t0015g0000 a0005c0017t0008g0000 a0005c0017t0009g0000 a0005c0039t0008g0000 a0023c0054t0001g0000 a0030c0058t0006g0000 a0036c0055t0001g0000	15	438	0.0343	-15	c.300 others(22): Show c.300_314delTGTGCCCGTCTGCTG	p.Val others(13): Show p.Val101_Cys105del	KRTAP10-10	ENSG00000221859.2	transcript	ENST00000380095.2	protein_coding	1/1	362/1100	300/756	100/251		INFO_REALIGN_3_PRIME	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	44573877	CCTGCTGC others(8): Show CCTGCTGCGCCCCCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp1 HG01258.hp1 HG01884.hp2 others(27): Show HG01081.hp1 HG01258.hp1 HG01884.hp2 HG01891.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA18981.hp2 NA19030.hp1 NA20129.hp1 NA21309.hp2	a0000 a0006 a0014 others(5): Show a0000 a0006 a0014 a0015 a0021 a0024 a0025 a0026	a0000c0011 a0000c0015 a0000c0047 others(9): Show a0000c0011 a0000c0015 a0000c0047 a0000c0049 a0000c0067 a0006c0008 a0014c0019 a0015c0020 a0021c0063 a0024c0048 a0025c0027 a0026c0055	a0000c0011t0005 a0000c0011t0006 a0000c0015t0005 others(10): Show a0000c0011t0005 a0000c0011t0006 a0000c0015t0005 a0000c0047t0005 a0000c0049t0006 a0000c0067t0005 a0006c0008t0001 a0014c0019t0002 a0015c0020t0003 a0021c0063t0002 a0024c0048t0003 a0025c0027t0003 a0026c0055t0002	a0000c0011t0005g0000 a0000c0011t0006g0000 a0000c0015t0005g0000 others(10): Show a0000c0011t0005g0000 a0000c0011t0006g0000 a0000c0015t0005g0000 a0000c0047t0005g0000 a0000c0049t0006g0000 a0000c0067t0005g0000 a0006c0008t0001g0000 a0014c0019t0002g0000 a0015c0020t0003g0000 a0021c0063t0002g0000 a0024c0048t0003g0000 a0025c0027t0003g0000 a0026c0055t0002g0000	30	476	0.0630	-15	c.132 others(22): Show c.132_146delCAGCTGCTGCGCCCC	p.Ser others(11): Show p.Ser45_Pro49del	KRTAP10-4	ENSG00000215454.7	transcript	ENST00000400374.4	protein_coding	1/1	162/1643	132/1206	44/401		INFO_REALIGN_3_PRIME	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	44591768	ACAGCACA others(8): Show ACAGCACACAGGCACG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18986.hp2 NA19080.hp1 NA18986.hp2 NA19080.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0000 a0023c0027t0001g0000	2	428	0.0047	-15	c.702 others(22): Show c.702_716delCGTGCCTGTGTGCTG	p.Val others(13): Show p.Val235_Cys239del	KRTAP10-6	ENSG00000188155.11	transcript	ENST00000400368.1	protein_coding	1/1	737/1238	702/1098	234/365			chr21	TogoVar
KRTAP12-2_chr21_44661189_44671927	44661367	TAAGTAAA others(8): Show TAAGTAAAAGTAAAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	424	0.0024	-15	c.50 others(26): Show c.5064_*5078delGTTTTACTTTTACTT		KRTAP12-2	ENSG00000221864.4	transcript	ENST00000360770.3	protein_coding					4821		chr21	TogoVar
KRTAP12-3_chr21_44652932_44663341	44661367	TAAGTAAA others(8): Show TAAGTAAAAGTAAAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	424	0.0024	-15	c.30 others(26): Show c.3098_*3112delAAGTAAAAGTAAAAC		KRTAP12-3	ENSG00000205439.10	transcript	ENST00000397907.1	protein_coding					3027		chr21	TogoVar
KRTAP13-1_chr21_30391031_30401822	30394017	ATTTTCCA others(8): Show ATTTTCCAAAGCTCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01433.hp1 HG03239.hp1 HG00741.hp2 HG01433.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	3	424	0.0071	-15	c.-20 others(26): Show c.-2069_-2055delTTTTCCAAAGCTCTG		KRTAP13-1	ENSG00000198390.5	transcript	ENST00000355459.4	protein_coding					2013		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
KRTAP2-3_chr17_41054240_41065114	41064589	GAAGTGAT others(8): Show GAAGTGATAGAAAATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19082.hp2 NA19005.hp2 NA19082.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0000 a0003c0003t0002g0000	2	441	0.0045	-15	c.-45 others(26): Show c.-4554_-4540delTATTTTCTATCACTT		KRTAP2-3	ENSG00000212724.3	transcript	ENST00000391418.3	protein_coding					4476		chr17	TogoVar
KRTAP2-4_chr17_41060116_41070879	41064589	GAAGTGAT others(8): Show GAAGTGATAGAAAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19082.hp2 NA19005.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	433	0.0046	-15	c.85 others(24): Show c.855_*869delTATTTTCTATCACTT		KRTAP2-4	ENSG00000213417.3	transcript	ENST00000394015.3	protein_coding					526		chr17	TogoVar
KRTAP27-1_chr21_30332013_30342694	30334508	TGATAGAT others(8): Show TGATAGATGATAGATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(34): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00621.hp2 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG02055.hp1 HG02083.hp2 HG02165.hp1 HG02300.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp2 HG03516.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18950.hp2 NA18956.hp2 NA18963.hp1 NA19002.hp2 NA19007.hp1 NA19070.hp1 NA19078.hp2 NA19091.hp2 NA20752.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0000 a0004c0004t0001g0000 a0001c0001t0001g0000 a0004c0004t0001g0000	37	420	0.0881	-15	c.25 others(26): Show c.2522_*2536delTATCTATCATCTATC		KRTAP27-1	ENSG00000206107.2	transcript	ENST00000382835.2	protein_coding					2504		chr21	TogoVar
KRTAP3-2_chr17_40994193_41004906	41000477	ATTTTTAT others(8): Show ATTTTTATTAAATCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	473	0.0021	-15	c.-63 others(24): Show c.-639_-625delCAGATTTAATAAAAA		KRTAP3-2	ENSG00000212900.3	transcript	ENST00000391587.3	protein_coding					572		chr17	TogoVar
KRTAP4-11_chr17_41112181_41123373	41121825	AAAGGGAA others(8): Show AAAGGGAAGGGAAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(81): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18973.hp1 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0011	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0004c0018 a0006c0007 a0011c0012	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0004c0018t0001 a0006c0007t0001 a0011c0012t0009	a0001c0002t0001g0000 a0001c0003t0001g0000 a0002c0001t0001g0000 others(3): Show a0001c0002t0001g0000 a0001c0003t0001g0000 a0002c0001t0001g0000 a0004c0018t0001g0000 a0006c0007t0001g0000 a0011c0012t0009g0000	84	427	0.1967	-15	c.-35 others(26): Show c.-3525_-3511delCCCTTCCCTTCCCTT		KRTAP4-11	ENSG00000212721.4	transcript	ENST00000391413.4	protein_coding					3453		chr17	TogoVar
KRTAP4-12_chr17_41118091_41129182	41121825	AAAGGGAA others(8): Show AAAGGGAAGGGAAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(78): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA19000.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0003c0009 others(2): Show a0001c0001 a0003c0003 a0003c0009 a0004c0004 a0006c0010	a0001c0001t0001 a0001c0001t0005 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0003c0003t0001 a0003c0009t0001 a0004c0004t0001 a0006c0010t0001	a0001c0001t0001g0000 a0001c0001t0005g0000 a0003c0003t0001g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0005g0000 a0003c0003t0001g0000 a0003c0009t0001g0000 a0004c0004t0001g0000 a0006c0010t0001g0000	81	423	0.1915	-15	c.16 others(26): Show c.1677_*1691delCCCTTCCCTTCCCTT		KRTAP4-12	ENSG00000213416.4	transcript	ENST00000394014.2	protein_coding					1265		chr17	TogoVar
KRTAP4-1_chr17_41179100_41189911	41187031	TGCAGCAG others(8): Show TGCAGCAGGTGGTCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG03453.hp2 others(2): Show HG01884.hp2 HG02055.hp2 HG03453.hp2 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	426	0.0117	-15	c.-21 others(26): Show c.-2192_-2178delCAGACCACCTGCTGC		KRTAP4-1	ENSG00000198443.8	transcript	ENST00000398472.2	protein_coding					2121		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158501	GGAAGAAG others(8): Show GGAAGAAGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02040.hp1 HG02074.hp1 others(8): Show HG00423.hp1 HG02040.hp1 HG02074.hp1 HG02486.hp1 HG06807.hp2 NA18995.hp2 NA18998.hp2 NA19056.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0000 a0004c0004t0002g0000 a0001c0001t0001g0000 a0004c0004t0002g0000	11	420	0.0262	-15	c.16 others(26): Show c.1675_*1689delTTCTTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1147		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158564	AGAAGAAG others(8): Show AGAAGAAGAAGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	420	0.0024	-15	c.16 others(26): Show c.1612_*1626delCTCTTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1084		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158567	AGAAGAAG others(8): Show AGAAGAAGAAGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02738.hp2 HG02886.hp2 others(10): Show HG00639.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp2 HG03239.hp2 HG03688.hp2 HG03927.hp1 NA18979.hp1 NA18987.hp1 NA19009.hp1 NA19067.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0000 a0002c0002t0003g0000 a0001c0001t0001g0000 a0002c0002t0003g0000	13	420	0.0310	-15	c.16 others(26): Show c.1609_*1623delCTCCTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1081		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158570	AGAAGAAG others(8): Show AGAAGAAGAGGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA19066.hp2 NA18985.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	420	0.0048	-15	c.16 others(26): Show c.1606_*1620delCTCCTCCTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1078		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41160598	TGCAGCAG others(8): Show TGCAGCAGGTGGTCTG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01361.hp1 HG01361.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0000 a0010c0010t0001g0000	1	420	0.0024	-15	c.79_ others(20): Show c.79_93delCAGACCACCTGCTGC	p.Gln others(11): Show p.Gln27_Cys31del	KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding	1/1	150/1100	79/501	27/166			chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1580901	ATTACAAG others(8): Show ATTACAAGCGTGAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0000 a0010c0017t0001g0000	1	429	0.0023	-15	c.34 others(26): Show c.3497_*3511delGGCTCACGCTTGTAA		KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding					3440		chr11	TogoVar
KRTAP5-3_chr11_1602565_1613463	1613054	CTTTATTT others(8): Show CTTTATTTTATTTTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02451.hp1 others(9): Show HG01109.hp1 HG01884.hp1 HG02451.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0000 a0001c0002t0004g0000 a0001c0002t0002g0000 a0001c0002t0004g0000	12	427	0.0281	-15	c.-46 others(26): Show c.-4684_-4670delATAAAATAAAATAAA		KRTAP5-3	ENSG00000196224.7	transcript	ENST00000399685.1	protein_coding					4592		chr11	TogoVar
KRTAP5-4_chr11_1615958_1627138	1623608	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	427	0.0023	-15	c.-15 others(26): Show c.-1530_-1516delCTTTTTTTTTTTTTT		KRTAP5-4	ENSG00000241598.6	transcript	ENST00000399682.1	protein_coding					1471		chr11	TogoVar
KRTAP5-9_chr11_71543420_71554608	71552730	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	422	0.0024	-15	c.35 others(26): Show c.3564_*3578delTTTTTTTTTTTTTTT		KRTAP5-9	ENSG00000254997.4	transcript	ENST00000528743.4	protein_coding					3123		chr11	TogoVar
KRTAP9-1_chr17_41184887_41195639	41187031	TGCAGCAG others(8): Show TGCAGCAGGTGGTCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG03453.hp2 others(2): Show HG01884.hp2 HG02055.hp2 HG03453.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	5	460	0.0109	-15	c.-28 others(26): Show c.-2855_-2841delGCAGCAGGTGGTCTG		KRTAP9-1	ENSG00000240542.6	transcript	ENST00000398470.1	protein_coding					2855		chr17	TogoVar

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Search Results (Total: 10000 hits)