Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
KCNQ2_chr20_63395208_63477655	63445954	G G	GCCCTGTC others(12): Show GCCCTGTCTGAGCTGGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG00741.hp1 others(20): Show HG00280.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01516.hp2 HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03453.hp2 HG03579.hp2 HG03942.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 others(1): Show a0001c0002 a0001c0004 a0002c0001 a0002c0013	a0001c0002t0014 a0001c0002t0022 a0001c0002t0061 others(9): Show a0001c0002t0014 a0001c0002t0022 a0001c0002t0061 a0001c0002t0081 a0001c0004t0004 a0001c0004t0033 a0001c0004t0060 a0001c0004t0082 a0002c0001t0002 a0002c0001t0013 a0002c0013t0001 a0002c0013t0013	a0001c0002t0014g0003 a0001c0002t0014g0109 a0001c0002t0022g0112 others(18): Show a0001c0002t0014g0003 a0001c0002t0014g0109 a0001c0002t0022g0112 a0001c0002t0022g0172 a0001c0002t0022g0256 a0001c0002t0061g0169 a0001c0002t0081g0168 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0166 a0001c0004t0033g0163 a0001c0004t0033g0204 a0001c0004t0060g0164 a0001c0004t0082g0165 a0002c0001t0002g0129 a0002c0001t0013g0006 a0002c0001t0013g0027 a0002c0001t0013g0162 a0002c0013t0001g0135 a0002c0013t0001g0137 a0002c0013t0013g0136	23	323	0.0712	19	c.388 others(34): Show c.388-609_388-591dupTCCCCCAGCTCAGACAGGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132154193	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp2 HG03579.hp1 HG01255.hp1 HG01891.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0043 a0001c0001t0012 a0001c0001t0014 a0001c0001t0043	a0001c0001t0012g0079 a0001c0001t0014g0113 a0001c0001t0043g0034 a0001c0001t0012g0079 a0001c0001t0014g0113 a0001c0001t0043g0034	3	120	0.0250	19	c.126 others(38): Show c.1262+9256_1262+9274dupAAAAAAAAAAAAAAAAAAA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	9/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132224081	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0059 a0001c0007t0059	a0001c0007t0059g0057 a0001c0007t0059g0057	1	98	0.0102	19	c.387 others(38): Show c.387-37919_387-37901dupAAAAAAAAAAAAAAAAAAA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132272859	T T	TTCACCAA others(12): Show TTCACCAAATCAATCCTTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0072 a0003c0004t0013g0072	1	176	0.0057	19	c.387 others(38): Show c.387-86679_387-86678insGGAAGGATTGATTTGGTGA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03139.hp1 HG03471.hp1 others(1): Show HG01884.hp2 HG03139.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0043 a0001c0001t0058 others(1): Show a0001c0001t0022 a0001c0001t0043 a0001c0001t0058 a0001c0001t0066	a0001c0001t0022g0084 a0001c0001t0043g0034 a0001c0001t0058g0065 others(1): Show a0001c0001t0022g0084 a0001c0001t0043g0034 a0001c0001t0058g0065 a0001c0001t0066g0068	4	5	0.8000	19	c.386 others(38): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132448502	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0068 a0001c0001t0066g0068	1	22	0.0455	19	c.386 others(38): Show c.386+31626_386+31644dupTTTTTTTTTTTTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNS3_chr2_17873667_17937958	17884304	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	380	0.0026	19	c.-25 others(38): Show c.-252+5498_-252+5499insATATATATATATATATATA	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2			chr2	TogoVar
KCNT1_chr9_135697185_135800502	135727143	T T	TACCTCTC others(12): Show TACCTCTCTCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	270	0.0037	19	c.254 others(38): Show c.254+12423_254+12424insACCTCTCTCTCCCTCCCTC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30			chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	29	0.0345	19	c.269 others(38): Show c.2697+1408_2697+1409insATATATATATTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	29	0.0345	19	c.269 others(38): Show c.2697+1408_2697+1409insATATATATATATTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196334487	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01891.hp2 HG02109.hp2 others(24): Show HG01168.hp2 HG01891.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0038 others(24): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0003g0089 a0001c0001t0003g0102 a0001c0002t0001g0122 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026	27	42	0.6429	19	c.178 others(36): Show c.1784-428_1784-427insAAAAAAAAAAAAAAAAAAA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	16/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196509788	G G	GACAATGA others(12): Show GACAATGATGAGAGTGTGCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	134	0.0075	19	c.96- others(36): Show c.96-17466_96-17448dupGGCACACTCTCATCATTGT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196561675	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02451.hp1 HG02895.hp2 others(2): Show HG00741.hp1 HG02451.hp1 HG02895.hp2 HG02897.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0037 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0002g0033 a0001c0001t0003g0036	5	49	0.1020	19	c.95+ others(36): Show c.95+46539_95+46540insCTTTTTTTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCP_chr7_128871865_128915709	128908251	G G	GAGAAAGA others(12): Show GAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp1 HG03195.hp2 HG02622.hp1 HG03041.hp1 HG03195.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0001 a0006c0006t0002g0058 a0006c0006t0002g0062 a0006c0006t0002g0001 a0006c0006t0002g0058 a0006c0006t0002g0062	3	128	0.0234	19	c.219 others(34): Show c.219+174_219+175insTCTTTCTTTCTTTCTTTCT	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	2/39			chr7	TogoVar
KCTD15_chr19_33791870_33820761	33816579	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(67): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18957.hp2 NA18962.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18986.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0047 a0001c0003t0002	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 others(45): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0036 a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0003g0064 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0014g0005 a0001c0001t0016g0147 a0001c0001t0018g0005 a0001c0001t0021g0142 a0001c0001t0023g0160 a0001c0001t0029g0005 a0001c0001t0030g0005 a0001c0001t0047g0008 a0001c0003t0002g0128	70	242	0.2893	19	c.36 others(30): Show c.3631_*3632insAAAAAAAAAAAAAAAAAAA	KCTD15	ENSG00000153885.15	transcript	ENST00000683859.1	protein_coding		819		chr19	TogoVar
KCTD19_chr16_67284432_67331741	67331069	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	42	0.0238	19	c.-43 others(30): Show c.-4363_-4362insCTCTCTCTCTCTCTCTCTC	KCTD19	ENSG00000168676.11	transcript	ENST00000304372.6	protein_coding		4329		chr16	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	114	0.0088	19	c.25 others(30): Show c.2563_*2564insATATATATATATATTTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD5_chr16_2677523_2714030	2678197	T T	TAGGAGAG others(12): Show TAGGAGAGTGGCTCTCTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG00738.hp1 others(52): Show HG00621.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG02004.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02300.hp1 HG02647.hp1 HG02683.hp1 HG02896.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18959.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA19002.hp2 NA19011.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0002t0002 a0001c0005t0001 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0055 others(42): Show a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0262 a0001c0001t0007g0024 a0001c0001t0009g0277 a0001c0001t0012g0219 a0001c0002t0002g0102 a0001c0005t0001g0241 a0001c0007t0001g0273 a0002c0003t0001g0057	55	336	0.1637	19	c.-43 others(30): Show c.-4352_-4351insAGGAGAGTGGCTCTCTCAG	KCTD5	ENSG00000167977.9	transcript	ENST00000301738.9	protein_coding		4325		chr16	TogoVar
KCTD8_chr4_44168903_44453809	44317228	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp1 HG01109.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0186 a0001c0001t0001g0136 a0001c0001t0001g0186	2	35	0.0571	19	c.961 others(40): Show c.961+130316_961+130334dupAAAAAAAAAAAAAAAAAAA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KCTD8_chr4_44168903_44453809	44351384	G G	GTGCATTA others(12): Show GTGCATTAAAAAGAATTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	294	0.0034	19	c.961 others(38): Show c.961+96178_961+96179insAAAAATTCTTTTTAATGCA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM1A_chr1_23014468_23088689	23042440	A A	ATTATTAT others(12): Show ATTATTATTATTATTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04115.hp2 NA18972.hp2 others(1): Show HG02258.hp2 HG04115.hp2 NA18972.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0003g0076 a0001c0001t0003g0105 others(1): Show a0001c0001t0001g0007 a0001c0001t0003g0076 a0001c0001t0003g0105 a0001c0001t0003g0140	4	159	0.0252	19	c.518 others(36): Show c.518-1985_518-1984insATTATTATTATTTTTTTTT	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
KDM1A_chr1_23014468_23088689	23042440	A A	ATTATTAT others(12): Show ATTATTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	156	0.0064	19	c.518 others(36): Show c.518-1985_518-1984insATTATTTTTTTTTTTTTTT	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
KDM1B_chr6_18150422_18228854	18208628	T T	TATATATA others(12): Show TATATATATATATAGATATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0340 a0001c0002t0001g0340	1	303	0.0033	19	c.186 others(36): Show c.1866+422_1866+423insATATATATATATAGATATA	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21			chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208628	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp1 HG01981.hp1 others(4): Show HG01934.hp1 HG01952.hp1 HG01981.hp1 NA18946.hp2 NA19009.hp2 NA19086.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0001c0002t0008 a0002c0006t0002 a0001c0002t0001 a0001c0002t0008 a0002c0006t0002	a0001c0002t0001g0313 a0001c0002t0001g0358 a0001c0002t0008g0359 others(4): Show a0001c0002t0001g0313 a0001c0002t0001g0358 a0001c0002t0008g0359 a0002c0006t0002g0321 a0002c0006t0002g0322 a0002c0006t0002g0325 a0002c0006t0002g0327	7	309	0.0227	19	c.186 others(36): Show c.1866+422_1866+423insATATATATATATATATATA	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21			chr6	TogoVar
KDM4A_chr1_43645149_43710518	43647351	A A	AAAAAATC others(12): Show AAAAAATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	78	0.0128	19	c.-29 others(30): Show c.-2941_-2940insAAAAATCTATCTATCTATC	KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding		2797		chr1	TogoVar
KDM4A_chr1_43645149_43710518	43649226	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	72	0.0139	19	c.-10 others(30): Show c.-1066_-1065insTTTTTTTTTTTTTTTTTTT	KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding		922		chr1	TogoVar
KDM4B_chr19_4964113_5158598	5060433	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0236 a0003c0009t0001g0236	1	162	0.0062	19	c.627 others(38): Show c.627-10565_627-10547dupAAAAAAAAAAAAAAAAAAA	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4C_chr9_6752973_7180648	6889211	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0076 a0004c0005t0002g0076	1	53	0.0189	19	c.783 others(36): Show c.783+1148_783+1149insGTGTGTGTGTGTGTGTGTG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	7/21			chr9	TogoVar
KDM4C_chr9_6752973_7180648	6919247	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG02165.hp1 others(19): Show HG00735.hp1 HG01123.hp1 HG02165.hp1 HG02572.hp2 HG02735.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp1 HG03710.hp1 NA18943.hp1 NA18959.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp1 NA18984.hp1 NA18989.hp1 NA19011.hp2 NA19066.hp1 NA19066.hp2 NA19086.hp1 NA19087.hp1 NA20752.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0008 a0013 a0016 a0029 a0032 a0033 a0035	a0001c0001 a0001c0002 a0001c0027 others(11): Show a0001c0001 a0001c0002 a0001c0027 a0002c0003 a0002c0008 a0004c0005 a0006c0053 a0008c0062 a0013c0025 a0016c0030 a0029c0052 a0032c0043 a0033c0051 a0035c0066	a0001c0001t0002 a0001c0002t0002 a0001c0027t0015 others(12): Show a0001c0001t0002 a0001c0002t0002 a0001c0027t0015 a0002c0003t0001 a0002c0003t0002 a0002c0008t0001 a0004c0005t0002 a0006c0053t0001 a0008c0062t0001 a0013c0025t0001 a0016c0030t0001 a0029c0052t0002 a0032c0043t0002 a0033c0051t0002 a0035c0066t0001	a0001c0001t0002g0111 a0001c0002t0002g0129 a0001c0027t0015g0260 others(19): Show a0001c0001t0002g0111 a0001c0002t0002g0129 a0001c0027t0015g0260 a0002c0003t0001g0072 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0234 a0002c0003t0002g0060 a0002c0003t0002g0167 a0002c0003t0002g0187 a0002c0003t0002g0241 a0002c0008t0001g0194 a0004c0005t0002g0250 a0006c0053t0001g0053 a0008c0062t0001g0149 a0013c0025t0001g0239 a0016c0030t0001g0153 a0016c0030t0001g0154 a0029c0052t0002g0244 a0032c0043t0002g0181 a0033c0051t0002g0081 a0035c0066t0001g0169	22	136	0.1618	19	c.921 others(38): Show c.921+26017_921+26018insCTTTCTTTCTTTCTTTCTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6926341	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	52	0.0192	19	c.921 others(38): Show c.921+33123_921+33124insAAAAAAAAAAAAAAAAAAA	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6983613	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	263	0.0038	19	c.111 others(36): Show c.1116-553_1116-552insACACACACACACACACACA	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	9/21			chr9	TogoVar
KDM4C_chr9_6752973_7180648	7116414	G G	GAGGTTAT others(12): Show GAGGTTATGTGGACCACCTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(141): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0020 a0021 a0022 a0024 a0025 a0026 a0027 a0030 a0035 a0036	a0001c0001 a0001c0027 a0002c0003 others(35): Show a0001c0001 a0001c0027 a0002c0003 a0002c0008 a0003c0004 a0003c0063 a0003c0069 a0004c0006 a0005c0011 a0005c0012 a0005c0032 a0005c0037 a0006c0009 a0006c0053 a0007c0020 a0007c0029 a0007c0034 a0008c0019 a0008c0062 a0010c0013 a0011c0015 a0012c0016 a0012c0036 a0013c0025 a0014c0014 a0016c0030 a0017c0021 a0019c0022 a0020c0050 a0021c0044 a0022c0054 a0024c0033 a0025c0039 a0026c0065 a0027c0041 a0030c0031 a0035c0066 a0036c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0027t0001 a0001c0027t0015 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0014 a0002c0008t0001 a0003c0004t0001 a0003c0004t0003 a0003c0004t0005 a0003c0004t0016 a0003c0004t0017 a0003c0063t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0002 a0005c0011t0001 a0005c0012t0001 a0005c0012t0004 a0005c0032t0002 a0005c0037t0001 a0006c0009t0001 a0006c0009t0003 a0006c0053t0001 a0007c0020t0001 a0007c0029t0001 a0007c0029t0002 a0007c0034t0001 a0008c0019t0001 a0008c0019t0005 a0008c0062t0001 a0010c0013t0003 a0010c0013t0007 a0010c0013t0009 a0011c0015t0001 a0011c0015t0002 a0012c0016t0001 a0012c0016t0005 a0012c0036t0001 a0013c0025t0001 a0014c0014t0001 a0016c0030t0001 a0017c0021t0001 a0019c0022t0001 a0020c0050t0001 a0021c0044t0001 a0022c0054t0005 a0024c0033t0001 a0025c0039t0001 a0026c0065t0005 a0027c0041t0002 a0030c0031t0013 a0035c0066t0001 a0036c0040t0001	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0041 others(141): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0002g0052 a0001c0001t0002g0087 a0001c0001t0002g0111 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0170 a0001c0001t0002g0214 a0001c0001t0002g0238 a0001c0001t0002g0263 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0265 a0001c0001t0006g0256 a0001c0001t0006g0259 a0001c0027t0001g0122 a0001c0027t0015g0260 a0002c0003t0001g0057 a0002c0003t0001g0061 a0002c0003t0001g0072 a0002c0003t0001g0095 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0242 a0002c0003t0002g0016 a0002c0003t0002g0034 a0002c0003t0002g0049 a0002c0003t0002g0060 a0002c0003t0002g0068 a0002c0003t0002g0073 a0002c0003t0002g0079 a0002c0003t0002g0092 a0002c0003t0002g0098 a0002c0003t0002g0136 a0002c0003t0002g0167 a0002c0003t0002g0187 a0002c0003t0002g0212 a0002c0003t0002g0224 a0002c0003t0002g0228 a0002c0003t0002g0241 a0002c0003t0003g0251 a0002c0003t0014g0180 a0002c0008t0001g0178 a0003c0004t0001g0045 a0003c0004t0001g0056 a0003c0004t0001g0084 a0003c0004t0001g0086 a0003c0004t0001g0089 a0003c0004t0001g0105 a0003c0004t0001g0120 a0003c0004t0001g0159 a0003c0004t0001g0192 a0003c0004t0001g0200 a0003c0004t0001g0225 a0003c0004t0001g0232 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0003g0261 a0003c0004t0005g0078 a0003c0004t0016g0202 a0003c0004t0017g0109 a0003c0063t0001g0026 a0003c0069t0001g0131 a0004c0006t0001g0059 a0004c0006t0001g0102 a0004c0006t0001g0106 a0004c0006t0001g0175 a0004c0006t0001g0233 a0004c0006t0002g0004 a0004c0006t0002g0074 a0004c0006t0002g0240 a0005c0011t0001g0058 a0005c0012t0001g0039 a0005c0012t0001g0054 a0005c0012t0001g0179 a0005c0012t0001g0223 a0005c0012t0004g0264 a0005c0032t0002g0091 a0005c0037t0001g0051 a0006c0009t0001g0077 a0006c0009t0001g0107 a0006c0009t0001g0152 a0006c0009t0001g0156 a0006c0009t0001g0157 a0006c0009t0001g0219 a0006c0009t0003g0254 a0006c0009t0003g0257 a0006c0053t0001g0053 a0007c0020t0001g0044 a0007c0020t0001g0173 a0007c0029t0001g0218 a0007c0029t0002g0230 a0007c0034t0001g0001 a0008c0019t0001g0104 a0008c0019t0005g0112 a0008c0062t0001g0149 a0010c0013t0003g0255 a0010c0013t0007g0088 a0010c0013t0009g0189 a0011c0015t0001g0003 a0011c0015t0001g0182 a0011c0015t0002g0130 a0012c0016t0001g0199 a0012c0016t0005g0174 a0012c0036t0001g0171 a0013c0025t0001g0239 a0014c0014t0001g0128 a0014c0014t0001g0162 a0014c0014t0001g0196 a0016c0030t0001g0153 a0016c0030t0001g0154 a0017c0021t0001g0019 a0017c0021t0001g0209 a0019c0022t0001g0029 a0019c0022t0001g0062 a0020c0050t0001g0071 a0021c0044t0001g0222 a0022c0054t0005g0042 a0024c0033t0001g0002 a0025c0039t0001g0040 a0026c0065t0005g0246 a0027c0041t0002g0108 a0030c0031t0013g0195 a0035c0066t0001g0169 a0036c0040t0001g0172	144	264	0.5455	19	c.261 others(40): Show c.2611-11645_2611-11644insGTGGACCACCTAAGGTTAT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM5A_chr12_275057_394320	289907	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18978.hp1 NA18981.hp2 others(7): Show HG02083.hp2 NA18978.hp1 NA18981.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19056.hp1 NA19065.hp1 NA19088.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 others(2): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0004t0028	a0002c0002t0003g0198 a0002c0002t0003g0201 a0002c0002t0005g0322 others(7): Show a0002c0002t0003g0198 a0002c0002t0003g0201 a0002c0002t0005g0322 a0002c0002t0005g0323 a0002c0002t0006g0086 a0002c0002t0006g0095 a0002c0002t0006g0097 a0002c0002t0006g0100 a0002c0002t0009g0257 a0002c0004t0028g0300	10	175	0.0571	19	c.486 others(38): Show c.4866+2833_4866+2851dupAAAAAAAAAAAAAAAAAAA	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	27/27			chr12	TogoVar
KDM5A_chr12_275057_394320	357827	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0304 a0001c0001t0064g0304	1	73	0.0137	19	c.673 others(36): Show c.673-1309_673-1291dupTTTTTTTTTTTTTTTTTTT	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	5/27			chr12	TogoVar
KDM8_chr16_27198526_27226768	27199700	A A	ATTTAAAT others(12): Show ATTTAAATTACAGGCTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	400	0.0025	19	c.-39 others(30): Show c.-3968_-3967insTTTAAATTACAGGCTTCTG	KDM8	ENSG00000155666.12	transcript	ENST00000286096.9	protein_coding		3825		chr16	TogoVar
KEL_chr7_142936114_142967363	142948914	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	252	0.0040	19	c.120 others(38): Show c.1204-2598_1204-2597insGTGTGTGTGTGTGTGTGTG	KEL	ENSG00000197993.9	transcript	ENST00000355265.7	protein_coding	10/18			chr7	TogoVar
KHDRBS3_chr8_135452456_135652610	135515365	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA21309.hp1 HG01255.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0142 a0001c0001t0001g0111 a0001c0001t0001g0142	2	20	0.1000	19	c.89- others(34): Show c.89-5853_89-5835dupAAAAAAAAAAAAAAAAAAA	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHSRP_chr19_6408102_6429811	6414368	C C	CGGAGGGC others(12): Show CGGAGGGCGGAGGCGCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0063 a0001c0001t0042g0063	1	384	0.0026	19	c.63 others(28): Show c.637_*655dupCCTAGCGCCTCCGCCCTCC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding	19/19	655		chr19	TogoVar
KIAA0319_chr6_24539107_24651191	24597917	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0035 a0001c0001t0012g0035	1	30	0.0333	19	c.56- others(34): Show c.56-1318_56-1300dupTTTTTTTTTTTTTTTTTTT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding	2/20			chr6	TogoVar
KIAA0319_chr6_24539107_24651191	24648659	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 NA19240.hp1 HG02109.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0030 a0004c0005t0051 a0004c0005t0030 a0004c0005t0051	a0004c0005t0030g0007 a0004c0005t0051g0046 a0004c0005t0030g0007 a0004c0005t0051g0046	2	221	0.0090	19	c.-30 others(30): Show c.-3030_-3029insTTTTTTTTTTTTTTTTTTT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding		2469		chr6	TogoVar
KIAA0753_chr17_6573147_6645711	6584160	C C	CCAACCTC others(12): Show CCAACCTCTGTCCTCTGATT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0202	1	368	0.0027	19	c.278 others(38): Show c.2787-4297_2787-4296insAATCAGAGGACAGAGGTTG	KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	18/18			chr17	TogoVar
KIAA0753_chr17_6573147_6645711	6591047	G G	GGAAGAAG others(12): Show GGAAGAAGGAAGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	257	0.0039	19	c.244 others(36): Show c.2441-418_2441-417insTCTTCCTTCTTCCTTCTTC	KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	16/18			chr17	TogoVar
KIAA0825_chr5_94145851_94623604	94152856	T T	TATATATA others(12): Show TATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0005 a0001c0004t0009g0005	1	33	0.0303	19	c.11 others(30): Show c.1150_*1151insTATATATATATATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	21/21	1150		chr5	TogoVar
KIAA1210_chrX_119073635_119132812	119125735	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02602.hp1 NA18969.hp1 HG02083.hp1 HG02602.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0016g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0016g0069	3	187	0.0160	19	c.-11 others(36): Show c.-11+1991_-11+1992insATATATATATATATATATA	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1210_chrX_119073635_119132812	119125736	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00642.hp1 others(12): Show HG00280.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG02258.hp1 HG02630.hp1 HG03453.hp1 HG03471.hp1 NA18963.hp2 NA18964.hp2 NA19002.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0011 a0012 a0015 a0021 a0024	a0001c0001 a0002c0002 a0005c0006 others(5): Show a0001c0001 a0002c0002 a0005c0006 a0011c0010 a0012c0009 a0015c0015 a0021c0022 a0024c0023	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0002c0002t0002 a0005c0006t0002 a0011c0010t0013 a0012c0009t0013 a0015c0015t0007 a0021c0022t0002 a0024c0023t0002	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(12): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0009g0189 a0002c0002t0002g0188 a0002c0002t0002g0193 a0002c0002t0002g0195 a0005c0006t0002g0251 a0011c0010t0013g0116 a0012c0009t0013g0115 a0015c0015t0007g0196 a0021c0022t0002g0117 a0024c0023t0002g0194	15	134	0.1119	19	c.-11 others(36): Show c.-11+1990_-11+1991insTATATATATATATATATAT	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1217_chr10_24204138_24552843	24422901	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18980.hp1 NA19068.hp1 others(1): Show HG00621.hp1 NA18980.hp1 NA19068.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0037	a0001c0001t0002 a0001c0005t0002 a0001c0008t0002 others(1): Show a0001c0001t0002 a0001c0005t0002 a0001c0008t0002 a0001c0037t0001	a0001c0001t0002g0215 a0001c0005t0002g0080 a0001c0008t0002g0217 others(1): Show a0001c0001t0002g0215 a0001c0005t0002g0080 a0001c0008t0002g0217 a0001c0037t0001g0053	4	155	0.0258	19	c.554 others(38): Show c.554-10091_554-10073dupTTTTTTTTTTTTTTTTTTT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24459982	A A	AAAATGCT others(12): Show AAAATGCTAGTACCGGGACT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18944.hp1 NA18970.hp1 HG02135.hp2 NA18944.hp1 NA18970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0012 a0001c0001 a0001c0006 a0003c0012	a0001c0001t0001 a0001c0006t0001 a0003c0012t0002 a0001c0001t0001 a0001c0006t0001 a0003c0012t0002	a0001c0001t0001g0151 a0001c0006t0001g0197 a0003c0012t0002g0155 a0001c0001t0001g0151 a0001c0006t0001g0197 a0003c0012t0002g0155	3	238	0.0126	19	c.847 others(38): Show c.847-13236_847-13235insACCGGGACTAAATGCTAGT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24520643	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	162	0.0062	19	c.230 others(36): Show c.2308+390_2308+391insTATATATATATATATATAT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	11/20			chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24520651	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0182 a0001c0013t0005g0182	1	29	0.0345	19	c.230 others(36): Show c.2308+399_2308+400insAAAAAAAAAAAAATATATA	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24520651	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0008 a0008	a0008c0063 a0008c0063	a0008c0063t0002 a0008c0063t0002	a0008c0063t0002g0149 a0008c0063t0002g0149	1	29	0.0345	19	c.230 others(36): Show c.2308+399_2308+400insAAAAATATATATATATATA	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

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