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
KCNJ6_chr21_37602373_37921457	37607483	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0108 a0001c0001t0042g0108	1	186	0.0054	33	c.17 others(46): Show c.17675_*17676insTATATATATATATATATATATATATATATATA T	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	17675		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37853862	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0181 a0001c0003t0181	a0001c0003t0181g0033 a0001c0003t0181g0033	1	196	0.0051	33	c.-27 others(52): Show c.-27-13154_-27-13153insATATATATATATATATATATATATAT ATATATA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	1/3			chr21	TogoVar
KCNK13_chr14_90056994_90190853	90101790	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	62	0.0161	33	c.334 others(52): Show c.334+39273_334+39274insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK13_chr14_90056994_90190853	90143171	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp2 HG02486.hp1 others(8): Show HG00673.hp2 HG02071.hp2 HG02486.hp1 HG02630.hp1 HG02683.hp1 HG03195.hp2 NA18956.hp2 NA18964.hp2 NA18983.hp1 NA18983.hp2 NA19070.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0046 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0214 a0001c0001t0001g0302 a0001c0001t0002g0282 a0001c0006t0002g0070 a0002c0002t0001g0192 a0003c0003t0001g0189	11	166	0.0663	33	c.335 others(52): Show c.335-40933_335-40932insCTTTCTTTCTTTCTTTCTTTCTTTCT TTTCTTT	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK1_chr1_233609106_233677514	233628760	A A	AAATAATA others(26): Show AAATAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02717.hp1 others(1): Show HG02258.hp1 HG02451.hp1 HG02717.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0006g0185 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0006g0185 a0001c0001t0010g0061	4	286	0.0140	33	c.355 others(52): Show c.355+14257_355+14258insTAATAATAATAATAATAATAATAATA ATAATAA	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK6_chr19_38314845_38337076	38328878	G G	GAAGAAAG others(26): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0049 a0002c0002t0049	a0002c0002t0049g0002 a0002c0002t0049g0002	1	314	0.0032	33	c.14 others(44): Show c.1476_*1477insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3	1477	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNK6_chr19_38314845_38337076	38328878	G G	GAGAGAAG others(26): Show GAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0071 a0003c0003t0071	a0003c0003t0071g0002 a0003c0003t0071g0002	1	314	0.0032	33	c.14 others(44): Show c.1478_*1479insGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3	1479	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0013 a0001c0001t0015g0013	1	222	0.0045	33	c.-12 others(44): Show c.-1284_-1283insATATATATATATATTTTTTTTTTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0007	1	222	0.0045	33	c.-12 others(44): Show c.-1284_-1283insATATATATATATATATTTTTTTTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG03486.hp1 HG01192.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0039 a0003c0003t0003g0083 a0001c0001t0001g0039 a0003c0003t0003g0083	2	223	0.0090	33	c.-12 others(44): Show c.-1284_-1283insATATATATATATATATATATATTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178758563	T T	TTATATAT others(26): Show TTATATATATATATATATATATATCCAAGAGGAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	231	0.0043	33	c.-67 others(52): Show c.-67-48780_-67-48779insTATATATATATATATATATATATCCA AGAGGAG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758803	A A	ATATATCT others(26): Show ATATATCTCCAAGAGGGATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp2 NA21309.hp2 HG00735.hp1 HG02451.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0003g0021 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0003g0021	3	216	0.0139	33	c.-67 others(52): Show c.-67-48539_-67-48538insATATCTCCAAGAGGGATATATATATA TATATCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178778457	C C	CACACACG others(26): Show CACACACGCACGCACGTGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	232	0.0043	33	c.-67 others(52): Show c.-67-28880_-67-28879insGCACGCACGTGCGCGCGCGCGCGCGC GACACAC	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114407083	C C	CACAAGGA others(26): Show CACAAGGATGTAATTTAATGCATCCTTGTAAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	248	0.0040	33	c.163 others(52): Show c.1637+2239_1637+2271dupATTTAATGCATCCTTGTAAAATACAA GGATGTA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114472395	A A	ATGAAGAT others(26): Show ATGAAGATGACCCGTGCCTTTCCTAGTGTCATGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	248	0.0040	33	c.178 others(50): Show c.1780-657_1780-625dupGAAGATGACCCGTGCCTTTCCTAGTGTC ATGTT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTAATATA others(26): Show TTAATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0104 a0001c0001t0018g0104	1	3	0.3333	33	c.144 others(52): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TATATTA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442713	C C	CCACCACC others(26): Show CCACCACCACCACCACCATCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02698.hp2 HG02738.hp2 others(8): Show HG02683.hp2 HG02698.hp2 HG02738.hp2 HG03017.hp1 HG03669.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2	a0001 a0001	a0001c0007 a0001c0014 a0001c0007 a0001c0014	a0001c0007t0005 a0001c0014t0005 a0001c0014t0014 a0001c0007t0005 a0001c0014t0005 a0001c0014t0014	a0001c0007t0005g0222 a0001c0007t0005g0224 a0001c0007t0005g0225 others(8): Show a0001c0007t0005g0222 a0001c0007t0005g0224 a0001c0007t0005g0225 a0001c0007t0005g0226 a0001c0007t0005g0230 a0001c0007t0005g0231 a0001c0007t0005g0233 a0001c0007t0005g0242 a0001c0014t0005g0227 a0001c0014t0005g0229 a0001c0014t0014g0228	11	324	0.0340	33	c.691 others(48): Show c.691-183_691-182insATGGTGGTGATGGTGATGGTGGTGGTGGTG GTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63455998	T T	TCACGGGC others(26): Show TCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0037 a0002c0001t0037	a0002c0001t0037g0262 a0002c0001t0037g0262	1	295	0.0034	33	c.297 others(50): Show c.297-9162_297-9161insGCAGAGGGGCCTCCCGGAGGTGGGGGGC CCGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0147 a0001c0001t0102g0147	1	2	0.5000	33	c.386 others(52): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72852640	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	21	0.0476	33	c.399 others(54): Show c.399-151268_399-151267insTATATATATATATATATATATATA TATATATAT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13			chr6	TogoVar
KCNQ5_chr6_72617064_73203853	72852661	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0070 a0001c0001t0036g0070	1	80	0.0125	33	c.399 others(54): Show c.399-151247_399-151246insTATATATATATATATATATATATA TATATATAT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13			chr6	TogoVar
KCNT1_chr9_135697185_135800502	135726959	C C	CTCTCTCC others(26): Show CTCTCTCCCTCTCTCCCTCTCTCTTTCCCATTCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA19068.hp2 HG01070.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0035 a0001c0001t0001 a0001c0002t0035	a0001c0001t0001g0067 a0001c0002t0035g0109 a0001c0001t0001g0067 a0001c0002t0035g0109	2	270	0.0074	33	c.254 others(52): Show c.254+12239_254+12240insTCTCTCCCTCTCTCCCTCTCTCTTTC CCATTCT	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30			chr9	TogoVar
KCNT1_chr9_135697185_135800502	135726965	C C	CCCTCTCT others(26): Show CCCTCTCTCCCTCTCTCTTTCCCATTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	270	0.0037	33	c.254 others(52): Show c.254+12252_254+12253insCCCTCTCTCTTTCCCATTCTCCCTCT CCTCTCT	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135732024	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	137	0.0073	33	c.254 others(52): Show c.254+17321_254+17322insAGAGAGAGAGAGAGGGGAGAGAGAGA GAGAGAG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	29	0.0345	33	c.269 others(52): Show c.2697+1408_2697+1409insATATATATATATATATATTTTTTTTT TTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 HG01074.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0134 a0001c0001t0001g0013 a0001c0001t0001g0134	2	30	0.0667	33	c.269 others(52): Show c.2697+1408_2697+1409insATATATATATATATATATATTTTTTT TTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNU1_chr8_36779374_36941125	36822233	T T	TGTATGTA others(26): Show TGTATGTATATATGTATCAAACATATATACATAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02132.hp1 HG02165.hp2 others(1): Show HG00438.hp2 HG02132.hp1 HG02165.hp2 NA18972.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0001 a0003c0003t0001 a0001c0002t0001 a0003c0003t0001	a0001c0002t0001g0228 a0001c0002t0001g0229 a0003c0003t0001g0230 others(1): Show a0001c0002t0001g0228 a0001c0002t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231	4	292	0.0137	33	c.110 others(52): Show c.1106+4482_1106+4514dupATATGTATCAAACATATATACATACG TATGTAT	KCNU1	ENSG00000215262.8	transcript	ENST00000399881.8	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	114	0.0088	33	c.25 others(44): Show c.2563_*2564insATATATATATATATATATATATATATTTTTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KDM1B_chr6_18150422_18228854	18208628	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0343 a0001c0002t0004g0343	1	303	0.0033	33	c.186 others(50): Show c.1866+422_1866+423insATATATATATATATATATATATATATAT ATATA	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21			chr6	TogoVar
KDM4C_chr9_6752973_7180648	7052910	T T	TGAGTGAG others(26): Show TGAGTGAGAGATTGTTGTACAGTGGGGTGCTTTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp2 HG01167.hp2 others(37): Show HG00621.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01975.hp2 HG02004.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18957.hp2 NA18962.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18983.hp2 NA19005.hp2 NA19066.hp1 NA19087.hp2 NA19091.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0018 a0022 a0029	a0001c0001 a0001c0002 a0001c0027 others(10): Show a0001c0001 a0001c0002 a0001c0027 a0002c0003 a0002c0008 a0003c0004 a0003c0007 a0003c0059 a0006c0009 a0006c0047 a0018c0067 a0022c0054 a0029c0052	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0027t0015 a0002c0003t0001 a0002c0003t0002 a0002c0008t0001 a0002c0008t0008 a0003c0004t0001 a0003c0004t0003 a0003c0004t0005 a0003c0004t0016 a0003c0007t0001 a0003c0059t0001 a0006c0009t0001 a0006c0009t0003 a0006c0047t0001 a0018c0067t0002 a0022c0054t0005 a0029c0052t0002	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0041 others(37): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0002g0170 a0001c0001t0006g0259 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0027t0015g0260 a0002c0003t0001g0139 a0002c0003t0001g0220 a0002c0003t0002g0073 a0002c0008t0001g0178 a0002c0008t0001g0194 a0002c0008t0008g0208 a0003c0004t0001g0192 a0003c0004t0001g0248 a0003c0004t0003g0261 a0003c0004t0005g0078 a0003c0004t0016g0202 a0003c0007t0001g0193 a0003c0059t0001g0134 a0006c0009t0001g0152 a0006c0009t0001g0156 a0006c0009t0001g0157 a0006c0009t0003g0257 a0006c0047t0001g0163 a0018c0067t0002g0126 a0022c0054t0005g0042 a0029c0052t0002g0244	40	98	0.4082	33	c.242 others(52): Show c.2424+3711_2424+3712insAGTGAGAGATTGTTGTACAGTGGGGT GCTTTAG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4D_chr11_94968709_95004519	95001163	T T	TGTATATA others(26): Show TGTATATATATATATATATATATATACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0050 a0002c0007t0001g0050	1	410	0.0024	33	c.22 others(44): Show c.2219_*2220insGTATATATATATATATATATATATACACACACA	KDM4D	ENSG00000186280.7	transcript	ENST00000335080.6	protein_coding		1645		chr11	TogoVar
KDM4D_chr11_94968709_95004519	95001166	A A	ATATATAT others(26): Show ATATATATATATATATATATATACACACACAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0039 a0004c0004t0001g0039	1	408	0.0025	33	c.22 others(44): Show c.2222_*2223insTATATATATATATATATATATACACACACAATG	KDM4D	ENSG00000186280.7	transcript	ENST00000335080.6	protein_coding		1648		chr11	TogoVar
KDM4D_chr11_94968709_95004519	95001168	A A	ATATATAT others(26): Show ATATATATATATATATATATACACACACAATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0039 a0004c0004t0001g0039	1	410	0.0024	33	c.22 others(44): Show c.2224_*2225insTATATATATATATATATATACACACACAATGTG	KDM4D	ENSG00000186280.7	transcript	ENST00000335080.6	protein_coding		1650		chr11	TogoVar
KHDRBS2_chr6_61674961_62291225	61983200	T T	TTTTCTTT others(26): Show TTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02738.hp1 HG02922.hp2 others(4): Show HG02055.hp2 HG02738.hp1 HG02922.hp2 HG03130.hp1 NA18993.hp1 NA19003.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0003t0002	a0001c0001t0006g0222 a0001c0002t0002g0110 a0001c0002t0004g0195 others(4): Show a0001c0001t0006g0222 a0001c0002t0002g0110 a0001c0002t0004g0195 a0001c0002t0004g0214 a0001c0002t0004g0215 a0001c0003t0002g0027 a0001c0003t0002g0041	7	91	0.0769	33	c.337 others(50): Show c.337-4989_337-4988insGAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAAA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	62241734	T T	TATTATTA others(26): Show TATTATTACATAGTTATTACATGATATTACATGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG03486.hp2 HG02559.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0114 a0001c0003t0003g0115 a0001c0003t0003g0116 a0001c0001t0001g0114 a0001c0003t0003g0115 a0001c0003t0003g0116	3	242	0.0124	33	c.91+ others(50): Show c.91+44123_91+44124insTCATGTAATATCATGTAATAACTATGTA ATAAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	1/8			chr6	TogoVar
KHSRP_chr19_6408102_6429811	6429023	T T	TTATATAT others(26): Show TTATATATATATATATATAATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	374	0.0053	33	c.-43 others(44): Show c.-4323_-4322insTATATATATATATATTATATATATATATATATA	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4213		chr19	TogoVar
KIAA0319_chr6_24539107_24651191	24648659	G G	GAAAAAAA others(26): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01981.hp2 HG00544.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0053 a0001c0001t0007 a0001c0001t0053	a0001c0001t0007g0082 a0001c0001t0053g0055 a0001c0001t0007g0082 a0001c0001t0053g0055	2	221	0.0090	33	c.-30 others(44): Show c.-3030_-3029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding		2469		chr6	TogoVar
KIAA0586_chr14_58422719_58556297	58484924	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18959.hp2 NA18971.hp2 others(1): Show NA18951.hp1 NA18959.hp2 NA18971.hp2 NA18974.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0005c0005t0001 a0001c0001t0001 a0001c0001t0004 a0005c0005t0001	a0001c0001t0001g0053 a0001c0001t0001g0269 a0001c0001t0004g0024 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0269 a0001c0001t0004g0024 a0005c0005t0001g0057	4	102	0.0392	33	c.314 others(52): Show c.3145-2082_3145-2081insATATATATATATATATATATATATAT ATTTTTT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0586_chr14_58422719_58556297	58484924	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	99	0.0101	33	c.314 others(52): Show c.3145-2082_3145-2081insATATATATATATATATATATATATAT TTTTTTT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0930_chr22_45187244_45245894	45229053	A A	ACTCACCC others(26): Show ACTCACCCGAAAGATCCCTCTCCACCCCCACACC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0198 a0001c0001t0011g0198	1	384	0.0026	33	c.64+ others(50): Show c.64+11586_64+11587insGGTGTGGGGGTGGAGAGGGATCTTTCGG GTGAG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229053	A A	ACTCACCT others(26): Show ACTCACCTGAAAGATTCCTCTCCACATCCCCACC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0189 a0001c0001t0052g0189	1	384	0.0026	33	c.64+ others(50): Show c.64+11586_64+11587insGGTGGGGATGTGGAGAGGAATCTTTCAG GTGAG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1210_chrX_119073635_119132812	119125735	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02280.hp2 HG02683.hp2 HG00741.hp1 HG02280.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059	3	187	0.0160	33	c.-11 others(50): Show c.-11+1991_-11+1992insATATATATATATATATATATATATATAT ATATA	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1210_chrX_119073635_119132812	119125735	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19010.hp2 HG02723.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0040 a0002c0002t0006g0232 a0001c0001t0001g0040 a0002c0002t0006g0232	2	186	0.0108	33	c.-11 others(50): Show c.-11+1991_-11+1992insAAATATATATATATATATATATATATAT ATATA	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1210_chrX_119073635_119132812	119125736	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG03704.hp1 HG00741.hp2 HG02451.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0017t0003 a0001c0001t0001 a0001c0001t0003 a0001c0017t0003	a0001c0001t0001g0021 a0001c0001t0003g0169 a0001c0017t0003g0099 a0001c0001t0001g0021 a0001c0001t0003g0169 a0001c0017t0003g0099	3	122	0.0246	33	c.-11 others(50): Show c.-11+1990_-11+1991insTATATATATATATATATATATATATATA TATAT	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1217_chr10_24204138_24552843	24520651	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	29	0.0345	33	c.230 others(50): Show c.2308+398_2308+399insTATATATATATATATATATATATATATA TATAT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	11/20			chr10	TogoVar
KIAA1671_chr22_24947716_25202448	24970389	G G	GAGGGGAG others(26): Show GAGGGGAGTTTGGGGTTGGAGACATCTGTAGGGA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	252	0.0040	33	c.-20 others(54): Show c.-208+17620_-208+17652dupGGGAGTTTGGGGTTGGAGACATCT GTAGGGAAG	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIAA1671_chr22_24947716_25202448	25068147	T T	TAGGGAGC others(26): Show TAGGGAGCAGGGCCGGCCTTCCGACTGTGCCGTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG01243.hp2 others(6): Show HG00642.hp1 HG01168.hp2 HG01243.hp2 HG02015.hp1 HG02055.hp1 HG02717.hp1 HG02970.hp2 HG02976.hp1 NA19043.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0028	a0001c0005 a0002c0113 a0005c0029 others(2): Show a0001c0005 a0002c0113 a0005c0029 a0005c0068 a0028c0074	a0001c0005t0004 a0001c0005t0012 a0002c0113t0003 others(3): Show a0001c0005t0004 a0001c0005t0012 a0002c0113t0003 a0005c0029t0004 a0005c0068t0004 a0028c0074t0004	a0001c0005t0004g0039 a0001c0005t0004g0040 a0001c0005t0012g0150 others(6): Show a0001c0005t0004g0039 a0001c0005t0004g0040 a0001c0005t0012g0150 a0001c0005t0012g0230 a0002c0113t0003g0155 a0005c0029t0004g0096 a0005c0029t0004g0128 a0005c0068t0004g0156 a0028c0074t0004g0069	9	248	0.0363	33	c.453 others(54): Show c.4530+18797_4530+18829dupGGCCTTCCGACTGTGCCGTCAGGG AGCAGGGCC	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIAA1671_chr22_24947716_25202448	25093824	T T	TTCTCCTC others(26): Show TTCTCCTCTCTCTCTCTCTCTCTGTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0073 a0004c0023t0001g0073	1	113	0.0088	33	c.453 others(54): Show c.4530+44464_4530+44465insCTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTC	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0236 a0002c0001t0002g0236	1	112	0.0089	33	c.183 others(52): Show c.1832-5301_1832-5300insATATATATATATATATATATATTTTT TTTTTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0160 a0001c0004t0001g0160	1	112	0.0089	33	c.183 others(52): Show c.1832-5301_1832-5300insATATATATATATATTTTTTTTTTTTT TTTTTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar

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