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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IPCEF1_chr6_154149496_154361803	154357705	T T	TAAAAAAT others(36): Show TAAAAAATATATATATAATATATATATAAAATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01071.hp2 others(6): Show HG00140.hp2 HG01069.hp2 HG01071.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01496.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017	a0001c0001t0002g0085 a0001c0001t0002g0107 a0001c0001t0003g0092 others(6): Show a0001c0001t0002g0085 a0001c0001t0002g0107 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0004g0112 a0001c0001t0012g0084 a0001c0001t0014g0110 a0001c0001t0014g0111 a0001c0001t0017g0113	9	250	0.0360	43	c.-10 others(54): Show c.-1096_-1095insTTATATATATATATTTTATATATATATTATATAT ATATTTTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		903		chr6	TogoVar
IPO11_chr5_62407763_62633582	62470816	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	15	0.0667	43	c.708 others(58): Show c.708+537_708+538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18986.hp2 HG01257.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0089 a0001c0001t0001g0013 a0001c0001t0001g0089	2	26	0.0769	43	c.85- others(58): Show c.85-5948_85-5947insAAAAAAAAAAATATATATATATATATATAT ATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	25	0.0400	43	c.85- others(58): Show c.85-5948_85-5947insAAAAAAAAATATATATATATATATATATAT ATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18951.hp1 HG02165.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0025 a0001c0001t0001g0069	2	26	0.0769	43	c.85- others(58): Show c.85-5948_85-5947insAAAAAAATATATATATATATATATATATAT ATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQSEC2_chrX_53227876_53326350	53279900	A A	AAGGAAGG others(36): Show AAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGATGGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	211	0.0047	43	c.737 others(62): Show c.737+11994_737+11995insCTCTCTCCATCTTCCTCCCTCCCTCC CTCCCTCCTTCCTTCCT	IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding	2/14			chrX	TogoVar
IQSEC2_chrX_53261328_53286584	53279900	A A	AAGGAAGG others(36): Show AAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGATGGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	297	0.0034	43	c.27- others(56): Show c.27-242_27-241insCTCTCTCCATCTTCCTCCCTCCCTCCCTCCCT CCTTCCTTCCT	IQSEC2	ENSG00000124313.19	transcript	ENST00000639161.2	protein_coding	1/2			chrX	TogoVar
IRAG2_chr12_25047706_25113335	25085739	T T	TCCCATAT others(36): Show TCCCATATCACTAACCCTAACCCTAACCCTAACCCTAACCCTAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG06807.hp1 HG02572.hp2 HG06807.hp1	a0005 a0007 a0005 a0007	a0005c0006 a0007c0009 a0005c0006 a0007c0009	a0005c0006t0007 a0007c0009t0001 a0005c0006t0007 a0007c0009t0001	a0005c0006t0007g0051 a0007c0009t0001g0200 a0005c0006t0007g0051 a0007c0009t0001g0200	2	324	0.0062	43	c.315 others(60): Show c.315+2260_315+2261insCCTAACCCTAACCCTAACCCTAACCCTA ACCCATATCACTAAC	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
ISOC1_chr5_129089749_129119028	129101192	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0085 a0001c0003t0005g0085	1	103	0.0097	43	c.310 others(60): Show c.310-3764_310-3763insTATATATATATATATATATATATATATA TATATATATATATAT	ISOC1	ENSG00000066583.12	transcript	ENST00000173527.6	protein_coding	1/4			chr5	TogoVar
ITGA1_chr5_52782916_52964209	52911993	T T	TATATATA others(36): Show TATATATAGTGTATCTACTATATATACTATATATAGTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 NA19030.hp2 HG01884.hp2 HG02280.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0005 a0001c0002t0030 a0001c0001t0004 a0001c0002t0005 a0001c0002t0030	a0001c0001t0004g0087 a0001c0002t0005g0190 a0001c0002t0030g0189 a0001c0001t0004g0087 a0001c0002t0005g0190 a0001c0002t0030g0189	3	53	0.0566	43	c.185 others(62): Show c.1857+1574_1857+1575insATATATAGTGTATCTACTATATATAC TATATATAGTATATATA	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28			chr5	TogoVar
ITGAM_chr16_31254975_31337877	31333578	A A	AAAATAAA others(36): Show AAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01256.hp2 HG02735.hp1 others(1): Show HG00099.hp1 HG01256.hp2 HG02735.hp1 HG03710.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0020 a0003c0004t0005g0032 a0003c0004t0005g0079 others(1): Show a0003c0004t0005g0020 a0003c0004t0005g0032 a0003c0004t0005g0079 a0003c0004t0005g0080	4	164	0.0244	43	c.18 others(54): Show c.1871_*1872insAAATAAAATAAATAAAATAAAATAAAATAAAATA AAATAAAAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		702		chr16	TogoVar
ITIH2_chr10_7698316_7754520	7701183	G G	GCTGTTGT others(36): Show GCTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0001 a0008c0026t0001	a0008c0026t0001g0350 a0008c0026t0001g0350	1	365	0.0027	43	c.-22 others(54): Show c.-2252_-2251insCTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT TGTTTTGTT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding		2132		chr10	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	109	0.0092	43	c.-14 others(64): Show c.-149+40300_-149+40301insAAATATATATATATATATATATAT ATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG03492.hp2 HG00738.hp1 HG01433.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0004t0016 a0001c0001t0013 a0001c0004t0016	a0001c0001t0013g0176 a0001c0004t0016g0175 a0001c0004t0016g0181 a0001c0001t0013g0176 a0001c0004t0016g0175 a0001c0004t0016g0181	3	111	0.0270	43	c.-14 others(64): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18989.hp1 HG02083.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0047 a0001c0008t0040 a0001c0001t0047 a0001c0008t0040	a0001c0001t0047g0148 a0001c0008t0040g0154 a0001c0001t0047g0148 a0001c0008t0040g0154	2	110	0.0182	43	c.-14 others(64): Show c.-149+40300_-149+40301insAAAAAAATATATATATATATATAT ATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JPH2_chr20_44101590_44192188	44134588	A A	ATATAAAT others(36): Show ATATAAATATATATTTATTATAAATATAATAAATATATATTTAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp2 HG02132.hp1 others(10): Show HG01255.hp1 HG01516.hp2 HG02132.hp1 HG02293.hp1 HG02698.hp2 HG02738.hp2 HG03491.hp2 NA18747.hp1 NA18944.hp2 NA18962.hp2 NA18983.hp1 NA19057.hp2 NA19065.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0013 a0001c0001 a0001c0003 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0049 a0001c0003t0002 a0004c0013t0003	a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0279 others(10): Show a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0040 a0001c0001t0002g0061 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0003g0071 a0001c0001t0007g0294 a0001c0001t0049g0077 a0001c0003t0002g0014 a0004c0013t0003g0068	13	336	0.0387	43	c.117 others(64): Show c.1170-16008_1170-15966dupATAAATATATATTTATTATATTTA TAATAAATATATATTTATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPT1_chr17_75130248_75159512	75156570	C C	CGGCCTAC others(36): Show CGGCCTACCAAAGTGCTGGGATTACAGCATGAGCCACCGCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	43	c.-22 others(54): Show c.-2216_-2174dupAGGTGCGGTGGCTCATGCTGTAATCCCAGCACTT TGGTAGGCC	JPT1	ENSG00000189159.16	transcript	ENST00000409753.8	protein_coding		2059		chr17	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	71	0.0141	43	c.37 others(54): Show c.3761_*3762insAAAAAAAAATATATATATATATATATATATATAT ATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KAT14_chr20_18132863_18193035	18176647	T T	TGGGTTGG others(36): Show TGGGTTGGTGTATGTGGCTGGAACCTAGTGATGGCAGAGGGAAC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	344	0.0029	43	c.166 others(62): Show c.1669-5038_1669-5037insAGTGATGGCAGAGGGAACGGGTTGGT GTATGTGGCTGGAACCT	KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
KAZN_chr1_14593685_15123043	14883340	G G	GAGAGAGA others(36): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0012 a0002c0006t0006g0012	1	131	0.0076	43	c.227 others(62): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA AAGAAAGAAAGGAAAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(36): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	132	0.0076	43	c.227 others(62): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGAAAGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883342	G G	GAGAGAGA others(36): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0119 a0003c0005t0011g0119	1	134	0.0075	43	c.227 others(62): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGAAAGAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AGAGGGAG others(36): Show AGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	40	0.0250	43	c.227 others(62): Show c.227-77329_227-77328insGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AGGGAGGG others(36): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	40	0.0250	43	c.227 others(62): Show c.227-77329_227-77328insGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGAGAGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1969537	A A	AATATATA others(36): Show AATATATATTTTATATATAAATATATATTTTATATTTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG02109.hp1 others(7): Show HG01891.hp1 HG01934.hp2 HG02109.hp1 HG02572.hp2 HG02622.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0019 a0001c0001t0033 others(1): Show a0001c0001t0004 a0001c0001t0019 a0001c0001t0033 a0001c0002t0011	a0001c0001t0004g0003 a0001c0001t0004g0281 a0001c0001t0004g0283 others(6): Show a0001c0001t0004g0003 a0001c0001t0004g0281 a0001c0001t0004g0283 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0349 a0001c0001t0019g0284 a0001c0001t0033g0282 a0001c0002t0011g0003	10	387	0.0258	43	c.-53 others(54): Show c.-5307_-5306insATATATATTTTATATATAAATATATATTTTATAT TTTATATAT	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4139		chr8	TogoVar
KCNH1_chr1_210673314_211139148	210806836	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19060.hp1 HG01943.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0016 a0001c0002t0001g0116 a0001c0001t0003g0016 a0001c0002t0001g0116	2	26	0.0769	43	c.146 others(62): Show c.1463-2671_1463-2670insATATATATATATATATATATATATAT ATATATATATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0097 a0001c0009t0001g0097	1	154	0.0065	43	c.137 others(62): Show c.1370-3607_1370-3606insGATATATATATATATATATATATATA TATATATATATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNJ6_chr21_37602373_37921457	37712753	C C	CCCTTTCT others(36): Show CCCTTTCTCTTCCCTCCCTCCTCCCCTCCTCCTCTCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(38): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp2 HG01975.hp1 HG01978.hp2 HG02071.hp2 HG02132.hp2 HG02145.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03486.hp1 HG03654.hp1 HG04115.hp2 HG04199.hp1 NA18950.hp2 NA18971.hp2 NA19060.hp2 NA19085.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0015 a0001c0001t0021 a0001c0001t0030 others(35): Show a0001c0001t0015 a0001c0001t0021 a0001c0001t0030 a0001c0001t0047 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0073 a0001c0001t0087 a0001c0001t0110 a0001c0001t0112 a0001c0001t0170 a0001c0001t0174 a0001c0001t0186 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0019 a0001c0002t0143 a0001c0002t0146 a0001c0002t0147 a0001c0002t0148 a0001c0002t0149 a0001c0002t0150 a0001c0002t0151 a0001c0002t0152 a0001c0002t0153 a0001c0002t0154 a0001c0002t0157 a0001c0002t0158 a0001c0002t0159 a0001c0002t0187 a0001c0006t0080	a0001c0001t0015g0167 a0001c0001t0021g0032 a0001c0001t0030g0130 others(38): Show a0001c0001t0015g0167 a0001c0001t0021g0032 a0001c0001t0030g0130 a0001c0001t0047g0113 a0001c0001t0062g0193 a0001c0001t0063g0172 a0001c0001t0064g0101 a0001c0001t0065g0126 a0001c0001t0066g0149 a0001c0001t0068g0098 a0001c0001t0073g0010 a0001c0001t0087g0169 a0001c0001t0110g0062 a0001c0001t0112g0074 a0001c0001t0170g0095 a0001c0001t0174g0134 a0001c0001t0186g0196 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0005g0127 a0001c0002t0005g0155 a0001c0002t0006g0053 a0001c0002t0006g0091 a0001c0002t0007g0040 a0001c0002t0013g0003 a0001c0002t0019g0022 a0001c0002t0143g0009 a0001c0002t0146g0176 a0001c0002t0147g0094 a0001c0002t0148g0192 a0001c0002t0149g0189 a0001c0002t0150g0184 a0001c0002t0151g0066 a0001c0002t0152g0004 a0001c0002t0153g0096 a0001c0002t0154g0188 a0001c0002t0157g0089 a0001c0002t0158g0043 a0001c0002t0159g0052 a0001c0002t0187g0197 a0001c0006t0080g0034	41	184	0.2228	43	c.946 others(60): Show c.946+1457_946+1458insAGGAGGGAGAGAGGAGGAGGGGAGGAGG GAGGGAAGAGAAAGG	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178691107	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	43	0.0233	43	c.-67 others(64): Show c.-67-116216_-67-116215insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759050	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	211	0.0047	43	c.-67 others(62): Show c.-67-48265_-67-48264insATATCTCCAAGAGGGATATATATATA TATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759474	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATCTTCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	213	0.0047	43	c.-67 others(62): Show c.-67-47855_-67-47854insATATATATATATATATATCTTCAAGA GGGATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114373658	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	245	0.0041	43	c.121 others(62): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TATATATATATATATAT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7			chr5	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	29	0.0345	43	c.269 others(62): Show c.2697+1408_2697+1409insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KDM4B_chr19_4964113_5158598	5084531	T T	TATAATTT others(36): Show TATAATTTATATATTATATATAAATATAAATTATATATGTTATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA20129.hp2 HG03669.hp1 NA20129.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0031 a0001c0001 a0020c0031	a0001c0001t0001 a0020c0031t0033 a0001c0001t0001 a0020c0031t0033	a0001c0001t0001g0211 a0020c0031t0033g0056 a0001c0001t0001g0211 a0020c0031t0033g0056	2	46	0.0435	43	c.918 others(60): Show c.918+2029_918+2030insAATTTATATATTATATATAAATATAAAT TATATATGTTATAAT	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KEAP1_chr19_10481125_10508356	10491385	A A	ATTTCCCA others(36): Show ATTTCCCAGCCCCAGGCACAGAATCAAAGGTCACTGACTAGAAC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0243 a0001c0003t0001g0243	1	390	0.0026	43	c.132 others(60): Show c.1325+149_1325+191dupGTTCTAGTCAGTGACCTTTGATTCTGTG CCTGGGGCTGGGAAA	KEAP1	ENSG00000079999.14	transcript	ENST00000171111.10	protein_coding	3/5			chr19	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(36): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0097	1	112	0.0089	43	c.183 others(62): Show c.1832-5301_1832-5300insATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIF13B_chr8_29062278_29268070	29228472	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0237 a0001c0001t0033g0237	1	104	0.0096	43	c.149 others(62): Show c.149+16873_149+16874insATATATATATATATATATATATATAT ATACTTTTTTTTTTTTT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39			chr8	TogoVar
KIF13B_chr8_29062278_29268070	29228472	A A	AAAAAAAA others(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	104	0.0096	43	c.149 others(62): Show c.149+16873_149+16874insATATATATATATATATATATATATAT ATATATATTTTTTTTTT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39			chr8	TogoVar
KIF17_chr1_20659014_20723007	20712738	A A	AATATAGA others(36): Show AATATAGATAATATTATCTATATATATAATATAGATAATATTAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp1 HG01952.hp2 others(25): Show HG01192.hp2 HG01256.hp1 HG01952.hp2 HG02040.hp1 HG02083.hp2 HG02602.hp2 HG02723.hp1 HG03239.hp2 HG03710.hp1 HG04115.hp2 NA18947.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp2 NA18979.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18992.hp2 NA18995.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19030.hp1 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19089.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0037	a0001c0001 a0001c0083 a0002c0016 others(10): Show a0001c0001 a0001c0083 a0002c0016 a0002c0039 a0003c0011 a0003c0042 a0003c0089 a0003c0109 a0003c0126 a0004c0006 a0004c0050 a0004c0088 a0037c0082	a0001c0001t0001 a0001c0001t0002 a0001c0083t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0083t0001 a0002c0016t0001 a0002c0039t0001 a0003c0011t0001 a0003c0011t0002 a0003c0042t0001 a0003c0089t0001 a0003c0109t0001 a0003c0126t0001 a0004c0006t0001 a0004c0050t0001 a0004c0088t0001 a0037c0082t0001	a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 others(25): Show a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0255 a0001c0083t0001g0243 a0002c0016t0001g0244 a0002c0039t0001g0250 a0002c0039t0001g0274 a0003c0011t0001g0236 a0003c0011t0001g0241 a0003c0011t0001g0262 a0003c0011t0002g0245 a0003c0042t0001g0246 a0003c0042t0001g0249 a0003c0089t0001g0247 a0003c0109t0001g0161 a0003c0126t0001g0294 a0004c0006t0001g0239 a0004c0006t0001g0242 a0004c0006t0001g0248 a0004c0006t0001g0251 a0004c0006t0001g0252 a0004c0006t0001g0263 a0004c0006t0001g0275 a0004c0006t0001g0278 a0004c0050t0001g0188 a0004c0088t0001g0254 a0037c0082t0001g0258	28	231	0.1212	43	c.480 others(58): Show c.480+715_480+716insATAATATTATCTATATTATATATATAGATA ATATTATCTATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712868	G G	GATATTAT others(36): Show GATATTATCTATATATTATATATATTATATATAATATAGATAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0010 a0010	a0010c0033 a0010c0033	a0010c0033t0001 a0010c0033t0001	a0010c0033t0001g0361 a0010c0033t0001g0361	1	194	0.0052	43	c.480 others(58): Show c.480+585_480+586insATTATCTATATTATATATAATATATATAAT ATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712868	G G	GATATTAT others(36): Show GATATTATCTATATTATATATAGATAATATCTATAATATAGATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0013 a0013	a0013c0044 a0013c0044	a0013c0044t0001 a0013c0044t0001	a0013c0044t0001g0277 a0013c0044t0001g0277	1	194	0.0052	43	c.480 others(58): Show c.480+585_480+586insTATCTATATTATAGATATTATCTATATATA ATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF18A_chr11_28015619_28113156	28105067	T T	TATTTAAT others(36): Show TATTTAATTATTTAGTAACATTTAGTACATTAGTACATTAGTAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp1 HG02165.hp2 others(2): Show HG00673.hp1 HG02040.hp1 HG02165.hp2 HG02523.hp1 NA19058.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0003 a0004c0005t0001 a0004c0005t0003	a0004c0005t0001g0104 a0004c0005t0001g0105 a0004c0005t0001g0106 others(2): Show a0004c0005t0001g0104 a0004c0005t0001g0105 a0004c0005t0001g0106 a0004c0005t0001g0286 a0004c0005t0003g0013	5	344	0.0145	43	c.-47 others(60): Show c.-47+2996_-47+2997insTTACTAATGTACTAATGTACTAAATGTT ACTAAATAATTAAAT	KIF18A	ENSG00000121621.7	transcript	ENST00000263181.7	protein_coding	1/16			chr11	TogoVar
KIF25_chr6_167992671_168050091	168044331	G G	GGGTGAGG others(36): Show GGGTGAGGGGTGCTAGTGACCGGCTGCTGACCCTCCCGGACCCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0010 a0001c0022t0010	a0001c0022t0010g0257 a0001c0022t0010g0257	1	321	0.0031	43	c.986 others(58): Show c.986-487_986-445dupGTGCTAGTGACCGGCTGCTGACCCTCCCGG ACCCAGGTGAGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168044454	G G	GGACCCAG others(36): Show GGACCCAGGTGAGGGACGCTAGTGACTGGCTGCTGACCCTCCCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0075 a0002c0002t0003g0075	1	374	0.0027	43	c.986 others(58): Show c.986-369_986-368insCAGGTGAGGGACGCTAGTGACTGGCTGCTG ACCCTCCCTGACC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIFAP3_chr1_169916329_170079695	169953280	T T	TAAAATGC others(36): Show TAAAATGCCATCTAGGGAGGAAAAGTCTTCAATTTAATAAAAGC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	370	0.0027	43	c.227 others(60): Show c.2273+688_2273+730dupGCTTTTATTAAATTGAAGACTTTTCCTC CCTAGATGGCATTTT	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	19/19			chr1	TogoVar
KIR3DL1_chr19_54811468_54835778	54830848	C C	CCCATCTG others(36): Show CCCATCTGTTCTCCGCTGGGTTCTCACCCCTGGATTCTGAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0014 a0006c0007t0001g0014	1	394	0.0025	43	c.57 others(52): Show c.573_*574insCCATCTGTTCTCCGCTGGGTTCTCACCCCTGGATTC TGAGCTT	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding		71		chr19	TogoVar
KISS1_chr1_204185341_204201491	204195186	G G	GCACACAC others(36): Show GCACACACACATATATACGCACACACCCATACACACACATCATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02559.hp2 others(8): Show HG02055.hp2 HG02145.hp1 HG02559.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0006 a0002c0002t0006 a0002c0002t0007 others(3): Show a0001c0001t0006 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0021 a0004c0004t0006	a0001c0001t0006g0061 a0001c0001t0006g0084 a0001c0001t0006g0088 others(7): Show a0001c0001t0006g0061 a0001c0001t0006g0084 a0001c0001t0006g0088 a0002c0002t0006g0086 a0002c0002t0006g0091 a0002c0002t0007g0041 a0002c0002t0008g0089 a0002c0002t0008g0090 a0002c0002t0021g0094 a0004c0004t0006g0087	11	398	0.0276	43	c.-39 others(60): Show c.-39+1189_-39+1190insTATGATGTGTGTGTATGGGTGTGTGCGT ATATATGTGTGTGTG	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KLC3_chr19_45335750_45356519	45337746	C C	CTCCTGAT others(36): Show CTCCTGATCTCAGGTGATCCGCCCTCCTGATCTCAGGTGATCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	432	0.0023	43	c.-31 others(54): Show c.-3109_-3108insTCCTGATCTCAGGTGATCCGCCCTCCTGATCTCA GGTGATCCG	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding		3003		chr19	TogoVar
KLHDC4_chr16_87702812_87770986	87706142	C C	CGGGGGGG others(36): Show CGGGGGGGTCAGCGTAATGCAAACACAAGCTGCAGCCCTCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	362	0.0028	43	c.18 others(54): Show c.1892_*1934dupCCCCGAGGGCTGCAGCTTGTGTTTGCATTACGCT GACCCCCCC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		1669		chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87706222	C C	CGGGGGGG others(36): Show CGGGGGGGGGTCAGCGTAATGCAAACACAAGCTGCAGCCCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02615.hp2 others(3): Show HG01884.hp1 HG02280.hp2 HG02615.hp2 HG02809.hp2 HG03516.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0269 others(3): Show a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0002c0002t0001g0195 a0002c0002t0001g0196	6	60	0.1000	43	c.18 others(54): Show c.1854_*1855insCCGAGGGCTGCAGCTTGTGTTTGCATTACGCTGA CCCCCCCCC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		1589		chr16	TogoVar

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