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
KCNQ2_chr20_63395208_63477655	63442692	T T	TCACCATC others(14): Show TCACCATCACCATCACCACCAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02148.hp1 HG02258.hp2 others(1): Show HG01109.hp2 HG02148.hp1 HG02258.hp2 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0058 a0002c0001t0020 a0002c0001t0058	a0002c0001t0020g0205 a0002c0001t0020g0207 a0002c0001t0020g0245 others(1): Show a0002c0001t0020g0205 a0002c0001t0020g0207 a0002c0001t0020g0245 a0002c0001t0058g0204	4	330	0.0121	21	c.691 others(36): Show c.691-162_691-161insGTGGTGGTGATGGTGATGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63443331	C C	CCATCACC others(14): Show CCATCACCACCATCACCATCAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0039 a0002c0006t0039	a0002c0006t0039g0305 a0002c0006t0039g0305	1	330	0.0030	21	c.691 others(36): Show c.691-801_691-800insATGATGGTGATGGTGGTGATG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63445758	T T	TGGGAGGG others(14): Show TGGGAGGGCCCTGTCTGAGCTG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0315 a0001c0009t0003g0315	1	330	0.0030	21	c.388 others(36): Show c.388-395_388-394insCAGCTCAGACAGGGCCCTCCC		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63472756	A A	AGGGAGGG others(14): Show AGGGAGGGGAGAGGGAGGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02738.hp2 HG03834.hp1 HG02698.hp2 HG02738.hp2 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0015 a0001c0014t0007 a0001c0014t0015	a0001c0014t0007g0226 a0001c0014t0007g0231 a0001c0014t0015g0230 a0001c0014t0007g0226 a0001c0014t0007g0231 a0001c0014t0015g0230	3	330	0.0091	21	c.-29 others(30): Show c.-294_-293insCGTCCCTCCCTCTCCCCTCCC		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding					102		chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132154192	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0046 a0001c0001t0047g0046	1	176	0.0057	21	c.126 others(40): Show c.1262+9275_1262+9276insAAAAAAAAAAAAAAAAAAAAA		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	9/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132154193	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03834.hp2 NA19088.hp1 HG02818.hp2 HG03834.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0030 a0001c0001t0044 a0001c0001t0010 a0001c0001t0030 a0001c0001t0044	a0001c0001t0010g0022 a0001c0001t0030g0152 a0001c0001t0044g0038 a0001c0001t0010g0022 a0001c0001t0030g0152 a0001c0001t0044g0038	3	176	0.0171	21	c.126 others(40): Show c.1262+9254_1262+9274dupAAAAAAAAAAAAAAAAAAAAA		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	9/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02647.hp1 others(5): Show HG02559.hp1 HG02615.hp1 HG02647.hp1 HG03041.hp1 HG03453.hp2 HG03471.hp2 HG03704.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 others(5): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0052 a0001c0001t0068 a0001c0001t0093	a0001c0001t0003g0153 a0001c0001t0019g0043 a0001c0001t0020g0051 others(5): Show a0001c0001t0003g0153 a0001c0001t0019g0043 a0001c0001t0020g0051 a0001c0001t0021g0089 a0001c0001t0024g0092 a0001c0001t0052g0049 a0001c0001t0068g0056 a0001c0001t0093g0131	8	176	0.0455	21	c.386 others(40): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTT		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ5_chr6_72617064_73203853	73024381	T T	TGATAGAT others(14): Show TGATAGATAGATAGATTAGATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	80	0.0125	21	c.490 others(40): Show c.490-17540_490-17539insTAGATAGATAGATAGATAGAT		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135731998	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0240 a0001c0005t0001g0240	1	272	0.0037	21	c.254 others(40): Show c.254+17279_254+17299dupGAGAGAGAGAGAGAGAGAGAG		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135732000	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	272	0.0037	21	c.254 others(40): Show c.254+17281_254+17301dupGAGAGAGAGAGAGAGAGAGAG		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135763244	A A	ATGACTGG others(14): Show ATGACTGGAAAGACTGAGCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(43): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03688.hp1 NA18522.hp1 NA19009.hp2 NA19043.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0015 a0001c0027 a0003c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0013 a0001c0003t0031 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0004t0037 a0001c0006t0009 a0001c0006t0010 a0001c0006t0036 a0001c0010t0001 a0001c0010t0014 a0001c0013t0024 a0001c0015t0001 a0001c0027t0009 a0003c0018t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 others(43): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0003g0181 a0001c0001t0003g0218 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0154 a0001c0003t0001g0040 a0001c0003t0001g0272 a0001c0003t0002g0027 a0001c0003t0006g0023 a0001c0003t0013g0068 a0001c0003t0031g0269 a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0092 a0001c0004t0002g0147 a0001c0004t0007g0006 a0001c0004t0037g0004 a0001c0006t0009g0012 a0001c0006t0010g0010 a0001c0006t0010g0011 a0001c0006t0036g0009 a0001c0010t0001g0158 a0001c0010t0014g0161 a0001c0013t0024g0046 a0001c0015t0001g0271 a0001c0027t0009g0268 a0003c0018t0001g0061	46	272	0.1691	21	c.103 others(40): Show c.1036-1767_1036-1766insTTGACTGGAAAGACTGAGCCT		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	11/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284246	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0002 a0001c0004t0004g0002	1	136	0.0074	21	c.269 others(40): Show c.2697+1410_2697+1411insATATATATATATATATATATA		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27						chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	136	0.0074	21	c.269 others(40): Show c.2697+1408_2697+1409insATATATATATTTTTTTTTTTT		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27						chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	136	0.0074	21	c.269 others(40): Show c.2697+1408_2697+1409insATATATATATATTTTTTTTTT		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27						chr1	TogoVar
KCNT2_chr1_196220779_196613440	196334487	C C	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	136	0.0074	21	c.178 others(38): Show c.1784-428_1784-427insAAAAAAAAAAAAAAAAAGAAA		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	16/27						chr1	TogoVar
KCNT2_chr1_196220779_196613440	196334487	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG00741.hp2 others(26): Show HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01346.hp1 HG02145.hp1 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02717.hp2 HG03486.hp2 HG03492.hp2 HG03669.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA19009.hp1 NA19062.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0027 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0113 a0001c0001t0011g0066 a0001c0002t0001g0121 a0001c0006t0001g0061	29	136	0.2132	21	c.178 others(38): Show c.1784-428_1784-427insAAAAAAAAAAAAAAAAAAAAA		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	16/27						chr1	TogoVar
KCNT2_chr1_196220779_196613440	196561675	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	136	0.0074	21	c.95+ others(38): Show c.95+46539_95+46540insCTTTTTTTTTTTTTTTTTTTT		KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27						chr1	TogoVar
KCTD11_chr17_7347162_7359944	7354812	T T	TGGGATTT others(14): Show TGGGATTTCTGGGTCCCAGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0000 a0001c0001t0025g0000	1	418	0.0024	21	c.11 others(32): Show c.1175_*1195dupATTTCTGGGTCCCAGAGCGGG		KCTD11	ENSG00000213859.8	transcript	ENST00000333751.8	protein_coding	1/1				1196	WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr17	TogoVar
KCTD15_chr19_33791870_33820761	33816579	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	370	0.0027	21	c.36 others(32): Show c.3631_*3632insAAAAAAAAAAAAAAAAAAAAA		KCTD15	ENSG00000153885.15	transcript	ENST00000683859.1	protein_coding					819		chr19	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	352	0.0028	21	c.25 others(32): Show c.2563_*2564insATATATATATATATTTTTTTT		KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding					1628		chr13	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	352	0.0028	21	c.25 others(32): Show c.2563_*2564insATATATATATATATATTTTTT		KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding					1628		chr13	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	21	c.25 others(32): Show c.2563_*2564insATATATATATATATATATATT		KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding					1628		chr13	TogoVar
KCTD8_chr4_44168903_44453809	44317228	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	294	0.0034	21	c.961 others(42): Show c.961+130314_961+130334dupAAAAAAAAAAAAAAAAAAAAA		KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1						chr4	TogoVar
KDM1B_chr6_18150422_18228854	18208627	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18967.hp1 NA19081.hp2 HG00673.hp2 NA18967.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0010 a0001c0002t0001g0334 a0001c0002t0003g0341 a0001c0002t0001g0010 a0001c0002t0001g0334 a0001c0002t0003g0341	3	392	0.0077	21	c.186 others(38): Show c.1866+422_1866+423insATATATATATATATATATATT		KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208627	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0326 a0002c0006t0002g0326	1	392	0.0026	21	c.186 others(38): Show c.1866+422_1866+423insATATATATATATATATATTTT		KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208628	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02040.hp2 HG02083.hp2 others(2): Show HG01975.hp2 HG02040.hp2 HG02083.hp2 HG02698.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0002c0006t0002 a0001c0001t0001 a0001c0002t0001 a0002c0006t0002	a0001c0001t0001g0295 a0001c0002t0001g0320 a0002c0006t0002g0310 others(2): Show a0001c0001t0001g0295 a0001c0002t0001g0320 a0002c0006t0002g0310 a0002c0006t0002g0331 a0002c0006t0002g0362	5	392	0.0128	21	c.186 others(38): Show c.1866+422_1866+423insATATATATATATATATATATA		KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21						chr6	TogoVar
KDM2A_chr11_67114263_67263082	67241419	T T	TTCTTGGC others(14): Show TTCTTGGCTATGAGTGAAAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01928.hp1 HG01981.hp1 HG00140.hp2 HG01928.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0053	3	220	0.0136	21	c.148 others(40): Show c.1480-1585_1480-1565dupGGCTATGAGTGAAAGGGTCTT		KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67247071	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	220	0.0046	21	c.196 others(38): Show c.1965+956_1965+957insATATATATATATATATATTTT		KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2B_chr12_121424096_121586023	121515207	T T	TCCCCATC others(14): Show TCCCCATCCCCCAATCACACTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	270	0.0037	21	c.104 others(40): Show c.1048-1806_1048-1805insGAGTGTGATTGGGGGATGGGG		KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22						chr12	TogoVar
KDM4A_chr1_43645149_43710518	43647351	A A	AAAAAAAA others(14): Show AAAAAAAATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	370	0.0027	21	c.-29 others(32): Show c.-2941_-2940insAAAAAAATCTATCTATCTATC		KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding					2797		chr1	TogoVar
KDM4C_chr9_6752973_7180648	6926341	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18984.hp1 NA19091.hp2 HG03041.hp2 NA18984.hp1 NA19091.hp2	a0002 a0033 a0002 a0033	a0002c0008 a0002c0046 a0033c0051 a0002c0008 a0002c0046 a0033c0051	a0002c0008t0001 a0002c0046t0001 a0033c0051t0002 a0002c0008t0001 a0002c0046t0001 a0033c0051t0002	a0002c0008t0001g0178 a0002c0046t0001g0133 a0033c0051t0002g0081 a0002c0008t0001g0178 a0002c0046t0001g0133 a0033c0051t0002g0081	3	266	0.0113	21	c.921 others(40): Show c.921+33123_921+33124insAAAAAAAAAAAAAAAAAAAAA		KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6944652	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	266	0.0038	21	c.922 others(40): Show c.922-36271_922-36251dupTTTTTTTTTTTTTTTTTTTTT		KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	7052910	T T	TGTTGTAC others(14): Show TGTTGTACAGTGGGGTGCTTTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01099.hp1 others(32): Show HG00408.hp2 HG00438.hp2 HG01099.hp1 HG01243.hp2 HG01884.hp2 HG01952.hp1 HG02055.hp2 HG02080.hp1 HG02132.hp2 HG02165.hp1 HG02257.hp1 HG02602.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18967.hp2 NA18983.hp1 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19086.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0012 a0017 a0020 a0026 a0031 a0036	a0001c0001 a0001c0002 a0002c0003 others(17): Show a0001c0001 a0001c0002 a0002c0003 a0002c0023 a0003c0004 a0003c0007 a0003c0069 a0005c0011 a0005c0012 a0005c0018 a0005c0032 a0005c0037 a0005c0061 a0012c0016 a0012c0036 a0017c0021 a0020c0050 a0026c0065 a0031c0049 a0036c0040	a0001c0001t0002 a0001c0002t0002 a0002c0003t0002 others(21): Show a0001c0001t0002 a0001c0002t0002 a0002c0003t0002 a0002c0003t0014 a0002c0023t0002 a0003c0004t0001 a0003c0007t0001 a0003c0069t0001 a0005c0011t0001 a0005c0011t0002 a0005c0012t0001 a0005c0012t0004 a0005c0018t0001 a0005c0032t0002 a0005c0037t0001 a0005c0061t0002 a0012c0016t0001 a0012c0016t0003 a0012c0036t0001 a0017c0021t0001 a0020c0050t0001 a0026c0065t0005 a0031c0049t0002 a0036c0040t0001	a0001c0001t0002g0052 a0001c0001t0002g0111 a0001c0001t0002g0137 others(32): Show a0001c0001t0002g0052 a0001c0001t0002g0111 a0001c0001t0002g0137 a0001c0002t0002g0140 a0002c0003t0002g0136 a0002c0003t0014g0180 a0002c0023t0002g0007 a0002c0023t0002g0132 a0003c0004t0001g0138 a0003c0007t0001g0141 a0003c0007t0001g0183 a0003c0007t0001g0185 a0003c0069t0001g0130 a0005c0011t0001g0201 a0005c0011t0002g0050 a0005c0011t0002g0113 a0005c0011t0002g0135 a0005c0012t0001g0039 a0005c0012t0001g0054 a0005c0012t0001g0179 a0005c0012t0001g0224 a0005c0012t0004g0264 a0005c0018t0001g0114 a0005c0018t0001g0116 a0005c0032t0002g0091 a0005c0037t0001g0051 a0005c0061t0002g0026 a0012c0016t0001g0199 a0012c0016t0003g0253 a0012c0036t0001g0171 a0017c0021t0001g0020 a0020c0050t0001g0071 a0026c0065t0005g0246 a0031c0049t0002g0005 a0036c0040t0001g0172	35	266	0.1316	21	c.242 others(40): Show c.2424+3711_2424+3712insTTGTACAGTGGGGTGCTTTAG		KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM5A_chr12_275057_394320	289907	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02080.hp2 NA18612.hp1 others(1): Show HG00597.hp2 HG02080.hp2 NA18612.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0070 a0002c0002t0005 a0002c0002t0070	a0002c0002t0005g0332 a0002c0002t0005g0333 a0002c0002t0005g0337 others(1): Show a0002c0002t0005g0332 a0002c0002t0005g0333 a0002c0002t0005g0337 a0002c0002t0070g0334	4	350	0.0114	21	c.486 others(40): Show c.4866+2831_4866+2851dupAAAAAAAAAAAAAAAAAAAAA		KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	27/27						chr12	TogoVar
KDM5A_chr12_275057_394320	357827	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	350	0.0029	21	c.673 others(38): Show c.673-1311_673-1291dupTTTTTTTTTTTTTTTTTTTTT		KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	5/27						chr12	TogoVar
KDM6A_chrX_44868188_45117779	44899004	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	199	0.0050	21	c.225 others(40): Show c.225+25017_225+25018insTGTGTGTGTGTGTGTGTGTGT		KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	2/29						chrX	TogoVar
KDM6A_chrX_44868188_45117779	44958604	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	199	0.0050	21	c.226 others(38): Show c.226-2675_226-2655dupTTTTTTTTTTTTTTTTTTTTT		KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	2/29					INFO_REALIGN_3_PRIME	chrX	TogoVar
KDM6A_chrX_44868188_45117779	45046981	A A	ATGGTGGT others(14): Show ATGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0199 a0001c0001t0007g0199	1	199	0.0050	21	c.655 others(38): Show c.655-4720_655-4700dupGGTGGTGGTGGTGGTGGTGGT		KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29					INFO_REALIGN_3_PRIME	chrX	TogoVar
KDM6B_chr17_7829217_7859796	7846859	T T	TACCACCA others(14): Show TACCACCACCACCACCACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18906.hp2 NA18906.hp2	a0033 a0033	a0033c0084 a0033c0084	a0033c0084t0010 a0033c0084t0010	a0033c0084t0010g0130 a0033c0084t0010g0130	1	388	0.0026	21	c.771 others(28): Show c.771_791dupACCACCACCACCACCACCACC	p.Pro others(13): Show p.Pro258_Pro264dup	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	10/24	1313/6728	792/4932	264/1643		INFO_REALIGN_3_PRIME	chr17	TogoVar
KHDRBS2_chr6_61674961_62291225	61983200	T T	TTTTCTTT others(14): Show TTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp1 HG01515.hp1 others(17): Show HG00558.hp1 HG01074.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp1 NA18964.hp1 NA19005.hp1 NA19056.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0005c0010	a0001c0001t0002 a0001c0002t0004 a0001c0002t0007 others(7): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0007 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0004t0008 a0001c0008t0001 a0005c0010t0005	a0001c0001t0002g0117 a0001c0002t0004g0191 a0001c0002t0004g0192 others(17): Show a0001c0001t0002g0117 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0198 a0001c0002t0007g0236 a0001c0002t0007g0237 a0001c0003t0002g0005 a0001c0003t0002g0118 a0001c0003t0002g0123 a0001c0003t0003g0026 a0001c0003t0004g0222 a0001c0003t0004g0228 a0001c0003t0004g0231 a0001c0003t0007g0188 a0001c0003t0007g0229 a0001c0003t0007g0230 a0001c0004t0008g0234 a0001c0004t0008g0243 a0001c0008t0001g0069 a0005c0010t0005g0020	20	244	0.0820	21	c.337 others(38): Show c.337-4989_337-4988insGAAAGAAAGAAAAGAAAGAAA		KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8						chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61983236	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0063 a0001c0007t0001g0063	1	244	0.0041	21	c.337 others(38): Show c.337-5025_337-5024insAGAAAGAAAGAAAGAAAGAAA		KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8						chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	62059198	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0003g0082 a0001c0003t0003g0083	2	244	0.0082	21	c.220 others(40): Show c.220-11225_220-11205dupAAAAAAAAAAAAAAAAAAAAA		KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	2/8						chr6	TogoVar
KHK_chr2_27081772_27105762	27103260	C C	CCTACAAC others(14): Show CCTACAACACCCAACCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	324	0.0031	21	c.35 others(32): Show c.3510_*3511insCTACAACACCCAACCCCCACT		KHK	ENSG00000138030.14	transcript	ENST00000260598.10	protein_coding					2499		chr2	TogoVar
KHSRP_chr19_6408102_6429811	6410127	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	386	0.0026	21	c.48 others(32): Show c.4896_*4897insGAGAGAGAGAGAGAGAGAGAG		KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding					2974		chr19	TogoVar
KIAA0319L_chr1_35428492_35562403	35513289	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	324	0.0031	21	c.143 others(38): Show c.143-6155_143-6154insTATATATATATATATATATAT		KIAA0319L	ENSG00000142687.19	transcript	ENST00000325722.8	protein_coding	2/20						chr1	TogoVar
KIAA0319_chr6_24539107_24651191	24648659	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0019 a0004c0005t0019	a0004c0005t0019g0053 a0004c0005t0019g0053	1	300	0.0033	21	c.-30 others(32): Show c.-3030_-3029insTTTTTTTTTTTTTTTTTTTTT		KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding					2469		chr6	TogoVar
KIAA0586_chr14_58422719_58556297	58484925	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	300	0.0033	21	c.314 others(40): Show c.3145-2082_3145-2081insATATATATATATATATATATA		KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30						chr14	TogoVar
KIAA0753_chr17_6573147_6645711	6591040	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0319 a0001c0001t0010g0319	1	370	0.0027	21	c.244 others(38): Show c.2441-431_2441-411dupTTCTTCTTCTTCTTCTTCTTC		KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	16/18						chr17	TogoVar
KIAA0825_chr5_94145851_94623604	94182250	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0004 a0001c0001t0038g0004	1	54	0.0185	21	c.371 others(42): Show c.3711-28147_3711-28127dupAAAAAAAAAAAAAAAAAAAAA		KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	20/20						chr5	TogoVar
KIAA1210_chrX_119073635_119132812	119125735	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01516.hp2 HG01433.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0069 a0001c0001t0001g0070	2	261	0.0077	21	c.-11 others(38): Show c.-11+1991_-11+1992insATATATATATATATATATATA		KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11						chrX	TogoVar

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