Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
KISS1_chr1_204185341_204201491	204200299	G G	GTGTGTGT others(35): Show GTGTGTGTGTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	87	0.0115	42	c.-39 others(53): Show c.-3963_-3962insTATATATATATATATATATATATATATATATATA CACACACA		KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding					3809		chr1	TogoVar
KLF9_chr9_70379604_70419657	70409174	A A	ATATGTGT others(35): Show ATATGTGTGTGTGTATATATACATATATGTATATATGTGTGTG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	398	0.0025	42	c.505 others(59): Show c.505+3684_505+3685insCACACACATATATACATATATGTATATA TACACACACACATA		KLF9	ENSG00000119138.5	transcript	ENST00000377126.4	protein_coding	1/1						chr9	TogoVar
KLF9_chr9_70379604_70419657	70409196	A A	ATGTATAT others(35): Show ATGTATATATGTGTGTGTATATATACATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	366	0.0027	42	c.505 others(59): Show c.505+3662_505+3663insCATATATATACATATATGTATATATACA CACACATATATACA		KLF9	ENSG00000119138.5	transcript	ENST00000377126.4	protein_coding	1/1						chr9	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	26	0.0385	42	c.22 others(53): Show c.2297_*2298insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATAT		KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding					920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(35): Show AAAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 NA19240.hp2 HG02615.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0079 a0001c0001t0001g0087	2	27	0.0741	42	c.22 others(53): Show c.2297_*2298insAAAAAAAAAAATATATATATATATATATATATAT ATATATAT		KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding					920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0042 a0001c0001t0001g0046	2	27	0.0741	42	c.22 others(53): Show c.2297_*2298insAAAAATATATATATATATATATATATATATATAT ATATATAT		KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding					920		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87706222	C C	CGGGGGGG others(35): Show CGGGGGGGGGTCAGCGTAATGCAAACACAAGCTGCAGCCCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18947.hp2 NA18990.hp2 others(5): Show NA18747.hp2 NA18947.hp2 NA18990.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19084.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0241 others(5): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0001g0285 a0002c0002t0001g0347	8	62	0.1290	42	c.18 others(53): Show c.1854_*1855insCGAGGGCTGCAGCTTGTGTTTGCATTACGCTGAC CCCCCCCC		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding					1589		chr16	TogoVar
KLHL1_chr13_69695597_70113452	70024620	T T	TTCTCTCT others(35): Show TTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	17	0.0588	42	c.498 others(61): Show c.498-48819_498-48818insGAGAGAGAAAGAGAGAAAGAGAGAAA GAGAGAGAGAGAGAGA		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/10						chr13	TogoVar
KLHL23_chr2_169728832_169756878	169753159	A A	ATATATAT others(35): Show ATATATATCTATATATATATCTATATATATCTATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02080.hp2 NA18947.hp1 others(8): Show HG00558.hp1 HG02080.hp2 NA18947.hp1 NA18964.hp1 NA18992.hp2 NA18995.hp2 NA19066.hp2 NA19074.hp1 NA19078.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0045 a0001c0001t0004 a0001c0001t0045	a0001c0001t0004g0015 a0001c0001t0004g0047 a0001c0001t0004g0048 others(7): Show a0001c0001t0004g0015 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0045g0042	11	188	0.0585	42	c.34 others(53): Show c.3427_*3428insTATATATCTATATATATATCTATATATATCTATA TATATATC		KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding					1282		chr2	TogoVar
KLHL28_chr14_44919324_44966947	44935890	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01256.hp1 HG02055.hp2 others(2): Show HG01070.hp1 HG01256.hp1 HG02055.hp2 HG03490.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0035 a0001c0001t0001 a0001c0001t0003 a0001c0001t0035	a0001c0001t0001g0015 a0001c0001t0001g0131 a0001c0001t0003g0113 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0131 a0001c0001t0003g0113 a0001c0001t0035g0085	5	79	0.0633	42	c.900 others(59): Show c.900-1333_900-1332insTATATATATATATATATATATATATATA TATATATATATATA		KLHL28	ENSG00000179454.14	transcript	ENST00000396128.9	protein_coding	2/4						chr14	TogoVar
KLHL29_chr2_23380179_23713606	23670917	G G	GCGCGCGC others(35): Show GCGCGCGCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01255.hp2 HG00438.hp1 HG00438.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0150 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0150	3	59	0.0508	42	c.941 others(61): Show c.941-13481_941-13480insGCGCGCACTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTC		KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL31_chr6_53642916_53670756	53666063	G G	GGAAGGAA others(35): Show GGAAGGAAGGAAGGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	292	0.0034	42	c.-49 others(51): Show c.-497_-496insTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCTTCCT TCCTTC		KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding					308		chr6	TogoVar
KLHL31_chr6_53642916_53670756	53666063	G G	GGAAGGAA others(35): Show GGAAGGAAGGAAGGAAGGAAAGAAAGAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0193 a0001c0001t0014g0193	1	292	0.0034	42	c.-49 others(51): Show c.-497_-496insTTTCTTTCTTTCTTTCTCTTTCTTTCCTTCCTTCCT TCCTTC		KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding					308		chr6	TogoVar
KLHL31_chr6_53642916_53670756	53666063	G G	GGAAGGAA others(35): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	292	0.0034	42	c.-49 others(51): Show c.-497_-496insTTTCTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTC		KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding					308		chr6	TogoVar
KLHL3_chr5_137612500_137741089	137682403	T T	TAGAGAGA others(35): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02683.hp2 HG01167.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0094 a0001c0001t0002g0103	2	9	0.2222	42	c.527 others(59): Show c.527-4750_527-4749insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT		KLHL3	ENSG00000146021.15	transcript	ENST00000309755.9	protein_coding	5/14						chr5	TogoVar
KLHL4_chrX_87512802_87675050	87552693	T T	TTATATAT others(35): Show TTATATATATCTATCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0246 a0001c0002t0002g0246	1	164	0.0061	42	c.422 others(61): Show c.422+34387_422+34388insCTATCTATATATATATATATATATAT ATATATATATATATAT		KLHL4	ENSG00000102271.14	transcript	ENST00000373119.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
KLK10_chr19_51007739_51024709	51020198	C C	CAGAGAGA others(35): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	276	0.0036	42	c.-58 others(51): Show c.-582_-581insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT		KLK10	ENSG00000129451.12	transcript	ENST00000358789.8	protein_coding					490		chr19	TogoVar
KLK11_chr19_51017236_51031616	51020198	C C	CAGAGAGA others(35): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	276	0.0036	42	c.23 others(53): Show c.2346_*2347insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT		KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding					2037		chr19	TogoVar
KLK1_chr19_50814146_50828787	50818663	C C	CCAGCCTT others(35): Show CCAGCCTTCGCAGGCCACACCCTGAAGCCACTCTCCACCCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(297): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0006 a0002c0002 others(5): Show a0001c0001 a0001c0006 a0002c0002 a0002c0008 a0003c0005 a0004c0004 a0005c0009 a0006c0007	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0002c0008t0001 a0003c0005t0001 a0004c0004t0001 a0005c0009t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0006t0001g0018 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0034 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0008t0001g0049 a0003c0005t0001g0014 a0004c0004t0001g0005 a0004c0004t0001g0030 a0004c0004t0001g0035 a0004c0004t0001g0041 a0005c0009t0001g0024 a0006c0007t0001g0023	300	419	0.7160	42	c.53 others(51): Show c.530_*531insAGCGGGTGGAGAGTGGCTTCAGGGTGTGGCCTGCGA AGGCTG		KLK1	ENSG00000167748.11	transcript	ENST00000301420.3	protein_coding					482		chr19	TogoVar
KLRB1_chr12_9589551_9612916	9607415	T T	TTCTTTCT others(35): Show TTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	238	0.0042	42	c.85+ others(55): Show c.85+339_85+340insCAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAGA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0058 a0002c0004t0002g0058	1	113	0.0088	42	c.371 others(61): Show c.3712+4834_3712+4835insGTGTGTGTGTGTATATATATATATAT ATATATATATATATAT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 NA18974.hp1 HG00558.hp2 HG00673.hp2 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0070 a0002c0002t0002g0082 a0002c0002t0002g0063 a0002c0002t0002g0070 a0002c0002t0002g0082	3	115	0.0261	42	c.371 others(61): Show c.3712+4834_3712+4835insGTGTATATATATATATATATATATAT ATATATATATATATAT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	113	0.0088	42	c.371 others(61): Show c.3712+4834_3712+4835insGTATATATATATATATATATATATAT ATATATATATATATAT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152235207	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0098 a0001c0006t0002g0098	1	101	0.0099	42	c.276 others(59): Show c.2769+609_2769+610insTATATATATATATATATATATATATATA TATATATATATATA		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	16/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297051	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGACAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0007 a0004c0008t0003g0007	1	107	0.0093	42	c.849 others(61): Show c.849+12914_849+12915insCTTTCTGTCTGTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297051	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGACAGACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	107	0.0093	42	c.849 others(61): Show c.849+12914_849+12915insCTCTCTCTCTCTCTGTCTGTCTTTCT TTCTTTCTTTCTTTCT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152384552	C C	CACCACTA others(35): Show CACCACTACCACCACCACCACCACCACCACCATCACCACTAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0056 a0002c0024t0002g0056	1	160	0.0063	42	c.162 others(61): Show c.162-25878_162-25877insTTTAGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTAGTGGT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	1/58						chr7	TogoVar
KNDC1_chr10_133155219_133231412	133221809	G G	GCTCACGC others(35): Show GCTCACGCCTGTAACCCTAGGTAGGCCGGGCTGGGTGCAGCCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0237 a0003c0015t0002g0237	1	318	0.0031	42	c.501 others(61): Show c.5018+1719_5018+1760dupAGGCCGGGCTGGGTGCAGCCACTCAC GCCTGTAACCCTAGGT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221877	A A	AGGGCTGG others(35): Show AGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTAGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG03540.hp1 HG02451.hp1 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0140 a0001c0001t0004g0157 a0001c0004t0004g0147 a0001c0001t0004g0140 a0001c0001t0004g0157 a0001c0004t0004g0147	3	258	0.0116	42	c.501 others(61): Show c.5018+1803_5018+1844dupAGGCCGGGCTGGGTGCAGCCACTCAC GCCTGTAACCCTAGGT		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133221915	A A	AGGCCGGG others(35): Show AGGCCGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0046 a0007c0009t0001g0046	1	279	0.0036	42	c.501 others(61): Show c.5018+1854_5018+1895dupTGGGTGCAGCCACTCACGCCTGTAAC CCTAGGTGGGCCGGGC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133222003	C C	CGGGCTGG others(35): Show CGGGCTGGGTGCAGCCACTCACGCCTGTAACCCTAGGTGGGCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01074.hp2 others(18): Show HG00438.hp1 HG00642.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG01934.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02818.hp1 HG03209.hp2 HG03239.hp1 HG03654.hp1 NA18943.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0035 others(1): Show a0001c0003 a0001c0004 a0001c0035 a0001c0036	a0001c0003t0001 a0001c0004t0001 a0001c0035t0003 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0035t0003 a0001c0036t0001	a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0280 others(16): Show a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0004t0001g0029 a0001c0004t0001g0104 a0001c0004t0001g0105 a0001c0004t0001g0106 a0001c0004t0001g0155 a0001c0004t0001g0162 a0001c0004t0001g0222 a0001c0004t0001g0314 a0001c0035t0003g0260 a0001c0036t0001g0272	21	296	0.0709	42	c.501 others(61): Show c.5018+1895_5018+1896insTGGGTGCAGCCACTCACGCCTGTAAC CCTAGGTGGGCTGGGC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNG1_chr3_186712359_186749410	186714226	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0006 a0002c0011t0006	a0002c0011t0006g0143 a0002c0011t0006g0143	1	428	0.0023	42	c.-33 others(53): Show c.-3317_-3316insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding					3132		chr3	TogoVar
KPNA7_chr7_99168572_99213115	99181061	G G	GTCTCTCT others(35): Show GTCTCTCTCTATCTGTGTCTCTCTCTCTCTCTATCTGTGTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02165.hp1 HG02258.hp1 others(3): Show HG00735.hp1 HG02165.hp1 HG02258.hp1 NA18944.hp2 NA18954.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0055 a0001c0002t0001g0151 a0001c0002t0001g0166 others(3): Show a0001c0001t0001g0055 a0001c0002t0001g0151 a0001c0002t0001g0166 a0001c0002t0001g0185 a0001c0002t0001g0198 a0001c0002t0001g0234	6	185	0.0324	42	c.131 others(59): Show c.1317+821_1317+822insGAGACACAGATAGAGAGAGAGAGAGACA CAGATAGAGAGAGA		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KPNA7_chr7_99168572_99213115	99181081	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTATCTGTGTCTCTCTCTCTCTCTATCTGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	325	0.0031	42	c.131 others(59): Show c.1317+801_1317+802insCACAGATAGAGAGAGAGAGAGACACAGA TAGAGAGAGAGAGA		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KRT40_chr17_40972715_40989326	40974724	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG01261.hp2 others(18): Show HG01099.hp2 HG01192.hp2 HG01261.hp2 HG01361.hp1 HG01952.hp2 HG01981.hp1 HG02055.hp1 HG02109.hp2 HG02451.hp1 HG02683.hp2 HG03041.hp2 HG03579.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18951.hp2 NA18963.hp1 NA19010.hp1 NA19055.hp2 NA19087.hp1	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0005 a0004c0007 a0005c0004 others(1): Show a0004c0005 a0004c0007 a0005c0004 a0006c0006	a0004c0005t0002 a0004c0007t0002 a0005c0004t0002 others(1): Show a0004c0005t0002 a0004c0007t0002 a0005c0004t0002 a0006c0006t0002	a0004c0005t0002g0015 a0004c0005t0002g0025 a0004c0007t0002g0014 others(6): Show a0004c0005t0002g0015 a0004c0005t0002g0025 a0004c0007t0002g0014 a0005c0004t0002g0003 a0005c0004t0002g0016 a0006c0006t0002g0006 a0006c0006t0002g0011 a0006c0006t0002g0024 a0006c0006t0002g0031	21	349	0.0602	42	c.34 others(53): Show c.3472_*3473insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA		KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding					2990		chr17	TogoVar
KRT4_chr12_52801549_52819116	52813799	C C	CCACCAAA others(35): Show CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0034 a0002c0010t0001g0034	2	20	0.1000	42	c.259 others(49): Show c.259_260insCTGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTT GGTG	p.Gly others(53): Show p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyG lyPheGly	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/9	317/2141	259/1563	87/520			chr12	TogoVar
KRT4_chr12_52801549_52819116	52813799	C C	CCACCAAA others(35): Show CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(442): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0002c0002 a0002c0005 a0002c0015 a0002c0016 a0004c0006 a0004c0008 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0007t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0015t0002 a0002c0016t0001 a0004c0006t0001 a0004c0008t0001 a0007c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0003t0001g0014 a0001c0003t0001g0022 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0057 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0003g0010 a0001c0003t0003g0013 a0001c0007t0001g0023 a0001c0013t0001g0042 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0002g0007 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0005t0001g0008 a0002c0015t0002g0065 a0002c0016t0001g0066 a0004c0006t0001g0016 a0004c0008t0001g0026 a0007c0012t0001g0041	445	463	0.9611	42	c.259 others(49): Show c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTT GGTG	p.Gly others(53): Show p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyG lyPheGly	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/9	317/2141	259/1563	87/520			chr12	TogoVar
KRT4_chr12_52801549_52819116	52813799	C C	CCACCAAA others(35): Show CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19054.hp1 NA19054.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0035 a0006c0011t0001g0035	1	19	0.0526	42	c.259 others(49): Show c.259_260insCCAGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTT GGTG	p.Gly others(53): Show p.Gly86_Gly87insAlaSerGlyPheGlyAlaGlyPheGlyThrGlyG lyPheGly	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/9	317/2141	259/1563	87/520			chr12	TogoVar
KRT4_chr12_52801549_52819116	52813799	C C	CCACCAAA others(35): Show CCACCAAAGCCACCAGTGCCGAAACCAGCTCTGAAGCCGCCGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01074.hp2 HG01081.hp1 HG01074.hp2 HG01081.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0027 a0005c0009t0001g0027	2	20	0.1000	42	c.259 others(49): Show c.259_260insCCGGCGGCTTCAGAGCTGGTTTCGGCACTGGTGGCTTT GGTG	p.Gly others(53): Show p.Gly86_Gly87insAlaGlyGlyPheArgAlaGlyPheGlyThrGlyG lyPheGly	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/9	317/2141	259/1563	87/520			chr12	TogoVar
KRT75_chr12_52419070_52439371	52438135	C C	CCCAGGGG others(35): Show CCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00673.hp2 others(59): Show HG00099.hp1 HG00408.hp1 HG00673.hp2 HG01069.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02683.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18941.hp2 NA18949.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18967.hp2 NA18971.hp1 NA18979.hp1 NA18984.hp1 NA19011.hp2 NA19012.hp1 NA19082.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0010	a0001c0005 a0004c0004 a0005c0006 others(1): Show a0001c0005 a0004c0004 a0005c0006 a0010c0012	a0001c0005t0004 a0004c0004t0001 a0004c0004t0009 others(2): Show a0001c0005t0004 a0004c0004t0001 a0004c0004t0009 a0005c0006t0001 a0010c0012t0001	a0001c0005t0004g0016 a0001c0005t0004g0093 a0004c0004t0001g0007 others(9): Show a0001c0005t0004g0016 a0001c0005t0004g0093 a0004c0004t0001g0007 a0004c0004t0001g0012 a0004c0004t0001g0022 a0004c0004t0001g0057 a0004c0004t0009g0055 a0005c0006t0001g0008 a0005c0006t0001g0017 a0005c0006t0001g0023 a0005c0006t0001g0056 a0010c0012t0001g0029	62	395	0.1570	42	c.-38 others(53): Show c.-3832_-3831insAGTGTCCACAACAGAATTACCTTCTCCACACTCG GCCCCTGG		KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding					3765		chr12	TogoVar
KRT75_chr12_52419070_52439371	52438145	G G	GAGTGTGG others(35): Show GAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0016 a0001c0005t0004g0016	1	359	0.0028	42	c.-38 others(53): Show c.-3842_-3841insTGGCCCCTGGAGTGTCCACAACAGAATTACCTTC TCCACACT		KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding					3775		chr12	TogoVar
KRT75_chr12_52419070_52439371	52438235	G G	GGAGAAGG others(35): Show GGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02970.hp2 HG02615.hp2 HG02630.hp1 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0008 a0005c0006t0001g0008	3	414	0.0072	42	c.-39 others(53): Show c.-3932_-3931insTACACTCGGCCCCTGGAGTGTCCACAACAGAATT ACCTTCTC		KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding					3865		chr12	TogoVar
KRT78_chr12_52832807_52853994	52842959	G G	GAGAGAGA others(35): Show GAGAGAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0013 a0004c0004t0002g0013	1	263	0.0038	42	c.104 others(61): Show c.1047+1133_1047+1134insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTTCTCTCTCT		KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	6/8						chr12	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035727	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	369	0.0027	42	c.51 others(53): Show c.5136_*5137insAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAA		KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding					4813		chr17	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035727	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	369	0.0027	42	c.51 others(53): Show c.5136_*5137insAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAA		KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding					4813		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035727	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	398	0.0025	42	c.-90 others(51): Show c.-907_-906insAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAA		KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding					854		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035727	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0000 a0002c0002t0005g0000	1	398	0.0025	42	c.-90 others(51): Show c.-907_-906insAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAA		KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding					854		chr17	TogoVar
KRTAP2-1_chr17_41041541_41052316	41050873	A A	AAAATATA others(35): Show AAAATATAATATAGTAAAATATATATAATATATTATATATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	340	0.0029	42	c.-36 others(53): Show c.-3607_-3606insACTATATATAATATATTATATATATTTTACTATA TTATATTT		KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding					3558		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41050873	A A	AAAATATA others(35): Show AAAATATAATATAGTAAAATATATATAATATATTATATATAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0006 a0008c0014t0006	a0008c0014t0006g0000 a0008c0014t0006g0000	1	342	0.0029	42	c.39 others(53): Show c.3966_*3967insACTATATATAATATATTATATATATTTTACTATA TTATATTT		KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding					3624		chr17	TogoVar
KRTAP20-2_chr21_30630206_30640619	30639227	C C	CCCCAATC others(35): Show CCCCAATCCCCCCTCCCACCCCCCCCTTCCCCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	376	0.0027	42	c.37 others(53): Show c.3766_*3767insCCCAATCCCCCCTCCCACCCCCCCCTTCCCCCCC CCTCCCCT		KRTAP20-2	ENSG00000184032.3	transcript	ENST00000330798.3	protein_coding					3609		chr21	TogoVar

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