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
TMPRSS9_chr19_2355265_2431261	2377575	C C	CCTCCCCA others(599): Show CCTCCCCATCTCCCACCCCTCTCCCCTCCCCTCCCACCCCCCCTCCCCTC TCCTCTCACCCACCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCCCCCACCCCTCACCCCTCCCCCTCCCCTCCCCCCTCCCCTCTCC CCTCTCCCCTCACCCCTCCCCCCTCCTCCCCCTCCCCACTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCC CTCCCTCCTCCCCTCCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TTCTCTGTCCTCCCCTCCTCTCTCTTCCCCCTCTCCTCCCCCTCTCCTCT CCTCCCCTCTCCTCCCCTCCCCCTCTCCTATCTCCTCCCTCTCCCCTCCC CTCGCCCTACCCCTCCCCCTCGCCCTTCCCCCTCTTCCCTCCCCTCTCCC CTCTCCCTCCCTCCCCATCTCCCCTCCTCATCTCCCCTCTCCCCTCCTCT CACCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCTCTCCCCTT CCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCC CTCCCCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0068 a0003c0009t0002g0068	1	112	0.0089	606	c.-25 others(625): Show c.-25-12185_-25-12184insTCCCCATCTCCCACCCCTCTCCCCTC CCCTCCCACCCCCCCTCCCCTCTCCTCTCACCCACCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCACCCCTCACCCCTCCCCC TCCCCTCCCCCCTCCCCTCTCCCCTCTCCCCTCACCCCTCCCCCCTCCTC CCCCTCCCCACTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCT CCCCTACCCTCTCCCCTCTCCCCTCCCTCCTCCCCTCCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCCTCCTCTCTCTTCC CCCTCTCCTCCCCCTCTCCTCTCCTCCCCTCTCCTCCCCTCCCCCTCTCC TATCTCCTCCCTCTCCCCTCCCCTCGCCCTACCCCTCCCCCTCGCCCTTC CCCCTCTTCCCTCCCCTCTCCCCTCTCCCTCCCTCCCCATCTCCCCTCCT CATCTCCCCTCTCCCCTCCTCTCACCCTTCCCTCCCGTCCCCTCTCCCCT TCCCTCCCCTCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCC CCTCCCCTCTCCCCTTCCCTCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TWIST2_chr2_238843085_238915534	238870157	C C	CCCACACA others(599): Show CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CATACACACCACACACCACACCCCACACACACCACACACCCCACACACAC CACACACCCCCCCACACCACACCCCATACACACCACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCCAT ACACACCACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCCCACACACCACACCCCACACACACCACAC CCCACACACACCACACACCATACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACCACACCCCACACACACCACACACCACA CACACCACACCCCATACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCCCACACACCACACCCCACACACACC ACACACA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	295	0.0034	606	c.35 others(625): Show c.35+21439_*35+21440insCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCCCCACACCACACCCCATACACACCACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACACCCCCCACACACCA CACCCCATACACACCACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCCCACACACCACACCCCACACA CACCACACCCCACACACACCACACACCATACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACCACACCCCACACACACCAC ACACCACACACACCACACCCCATACACACCACACCCCATACACACCACAC CCCACACACACCACACCCCACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCA CACACACCACACACACCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CAAACCAC others(599): Show CAAACCACACACCCCACACACACCACACACCCCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCATACACACCA CACACACCACACACCCCACACACACCACACCCCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACACCACACCCCATA CACACCACACCCCACACACCCCCCACACACCACACCCCATACACACCACA CCCCACACACCCCCCACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18982.hp1 NA18983.hp2 NA18951.hp1 NA18982.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0270 a0001c0001t0002g0039 a0001c0001t0002g0083 a0001c0001t0001g0270 a0001c0001t0002g0039 a0001c0001t0002g0083	3	98	0.0306	606	c.35 others(625): Show c.35+21564_*35+21565insAAACCACACACCCCACACACACCACA CACCCCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCCCACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCCATACACACCACACACACCACACACCCCACACACACCA CACCCCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACCACACACCACACCCCATACACACCACACCCCACACACCCCCCACA CACCACACCCCATACACACCACACCCCACACACCCCCCACACACCACACC CCATACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CAAACCAC others(599): Show CAAACCACACACCCCACACACACCACACACCCCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACACACCACACACCCCACACACACCACACCCCA CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACACCACACCCCATACACACCACACCCCACACACCCCCCACACACCACA CCCCATACACACCACACCCCACACACCCCCCACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACA CCACACA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	96	0.0104	606	c.35 others(625): Show c.35+21564_*35+21565insAAACCACACACCCCACACACACCACA CACCCCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCCCACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACACACCACA CACCCCACACACACCACACCCCACACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACACCACACCCCATACACACCACACC CCACACACCCCCCACACACCACACCCCATACACACCACACCCCACACACC CCCCACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACCCCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CAAACCAC others(599): Show CAAACCACACACCCCACACACACCACACACCCCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACACACCACACACCCCACACACACCACACCCCA CACACCCCACACACACCACACCCCATACACACCACACCCCACACGCACCA CACACCACACCCCATACACACCACACCCCACACACCCCCCACACACCACA CCCCATACACACCACACCCCACACACCCCCCACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	96	0.0104	606	c.35 others(625): Show c.35+21564_*35+21565insAAACCACACACCCCACACACACCACA CACCCCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCCCACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACACACCACA CACCCCACACACACCACACCCCACACACCCCACACACACCACACCCCATA CACACCACACCCCACACGCACCACACACCACACCCCATACACACCACACC CCACACACCCCCCACACACCACACCCCATACACACCACACCCCACACACC CCCCACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(599): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0234 a0001c0001t0027g0234	1	24	0.0417	606	c.82+ others(621): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGT TTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(599): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0231 a0001c0001t0036g0231	1	24	0.0417	606	c.82+ others(621): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGT TTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(599): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0083 a0001c0002t0008g0083	1	25	0.0400	606	c.483 others(621): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WRAP53_chr17_7683477_7708502	7699448	A A	ATATATAT others(599): Show ATATATATTTATATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATATTTATATATATATTTATATATATAT ATTTATATATATATTTATATATATATTTATATATATATATTTATATATAT ATTTATATATATTTATATCTATATTTATATATATTTATATCTATATTTAT ATATATATTTATATATCTATAGTTATATATATTTATATATCTATATTTAT ATCTATATTTATATATATATTTATATATATTTATATATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATTTATATATATAT ATTTATATATATATTTATATATATATTTATATATATATTTTTATATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATATT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0094 a0002c0011t0001g0094	1	371	0.0027	606	c.643 others(623): Show c.643-1286_643-1285insTTATATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATATTTATATATATATATTTATATATAT ATTTATATATATATATTTATATATATATTTATATATATATTTATATATAT ATATTTATATATATATTTATATATATTTATATCTATATTTATATATATTT ATATCTATATTTATATATATATTTATATATCTATAGTTATATATATTTAT ATATCTATATTTATATCTATATTTATATATATATTTATATATATTTATAT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATATATTTATATATATATTTATATATATATTTATATATAT ATTTTTATATATATATTTATATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATATTTATATAT	WRAP53	ENSG00000141499.18	transcript	ENST00000396463.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(599): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATATTATATTATATATTATAAATAATATATTATAT ATTATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATATTATATTATAAATAATATATTATATA TTATATTATAAATAATATATTATATATTATAAATAATATATTATATATAA TATGTTA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0162 a0001c0001t0108g0162	1	44	0.0227	606	c.-1- others(623): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATATTATATTATA AATAATATATTATATATTATATTATAAATAATATATTATATATTATAAAT AATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(599): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATATTATATTATATATTATAAATAATATATTATAT ATTATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATAAATAATATATTATATATTATAAATAATATATTATATATAA TATGTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG02027.hp2 others(23): Show HG00438.hp1 HG00544.hp1 HG02027.hp2 HG02132.hp2 HG02148.hp1 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03579.hp2 HG03942.hp1 HG06807.hp1 NA18747.hp2 NA18969.hp1 NA19012.hp1 NA19057.hp1 NA19084.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0031 a0001c0001t0085 a0001c0001t0092 a0001c0001t0095 a0001c0001t0096 a0001c0001t0100 a0001c0001t0103 a0001c0002t0002	a0001c0001t0001g0161 a0001c0001t0001g0298 a0001c0001t0002g0004 others(23): Show a0001c0001t0001g0161 a0001c0001t0001g0298 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0056 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0158 a0001c0001t0002g0252 a0001c0001t0009g0081 a0001c0001t0009g0254 a0001c0001t0015g0289 a0001c0001t0019g0008 a0001c0001t0019g0055 a0001c0001t0031g0054 a0001c0001t0085g0048 a0001c0001t0092g0051 a0001c0001t0095g0044 a0001c0001t0096g0154 a0001c0001t0100g0039 a0001c0001t0103g0071 a0001c0002t0002g0140	26	69	0.3768	606	c.-1- others(623): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATAAATAATATATTATATATTATAAAT AATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(599): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATTATATTATATATTATAAATAATATAT TATATATTATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATGTTATATATTATAAATAATATATA TTATATTATAAATAATATATTATATATTATAAATAATATATTATATATAA TATGTTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18961.hp2 NA18942.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0138 a0001c0001t0015g0088 a0001c0001t0005g0138 a0001c0001t0015g0088	2	45	0.0444	606	c.-1- others(623): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATGTTATATA TTATAAATAATATATATTATATTATAAATAATATATTATATATTATAAAT AATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(599): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATGTATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATATTATATTATATATTATAAATAATATATTATAT ATTATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATAAATAATATATTATATATTATAAATAATATATTATATATAA TATGTTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp1 HG02976.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0062 a0001c0001t0002g0064	2	45	0.0444	606	c.-1- others(623): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATGTATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATAAATAATATATTATATATTATAAAT AATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(599): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGAGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGG GAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGGAGGGAGGG GAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAG GGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAA GGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAA GAAAGAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0154 a0003c0010t0002g0154	1	72	0.0139	606	c.205 others(625): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCC TCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCT CCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCTCCCCTTCCCTC CCCTCCCTCCCCTTCCCTCCCTCTCCTCCCTCCCCTCCCTCCCTCCCCTC CCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCC TCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTC TCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(599): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGG GAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGGAGGGAGGG GAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAG GGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAA GGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAA GAAAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00738.hp1 others(27): Show HG00140.hp1 HG00140.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01975.hp1 HG02083.hp1 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG03239.hp2 HG03654.hp1 NA18950.hp2 NA18961.hp2 NA18963.hp2 NA18971.hp2 NA19007.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0030 a0002c0009 a0002c0017 a0002c0018 a0004c0015 a0004c0020	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0002 a0001c0005t0002 a0001c0005t0005 a0001c0030t0002 a0002c0009t0002 a0002c0017t0003 a0002c0018t0002 a0004c0015t0002 a0004c0020t0002	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0263 others(27): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0263 a0001c0001t0003g0025 a0001c0001t0003g0205 a0001c0002t0001g0269 a0001c0004t0002g0024 a0001c0004t0002g0038 a0001c0004t0002g0071 a0001c0004t0002g0093 a0001c0004t0002g0114 a0001c0004t0002g0170 a0001c0004t0002g0171 a0001c0004t0002g0180 a0001c0005t0002g0022 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0044 a0001c0005t0002g0105 a0001c0005t0002g0138 a0001c0005t0002g0151 a0001c0005t0002g0224 a0001c0005t0005g0249 a0001c0030t0002g0041 a0002c0009t0002g0202 a0002c0017t0003g0183 a0002c0018t0002g0203 a0004c0015t0002g0060 a0004c0015t0002g0064 a0004c0020t0002g0256	30	101	0.2970	606	c.205 others(625): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCC TCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCT CCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCTCCCCTTCCCTC CCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTC CCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCC TCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTC TCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(600): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATAAATATATAAAAATTTATATTTATATATCATAAA TATAAATATATAAAAATTTATATTTATATATAATAAATATATAAAAATTT ATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATATC ATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	607	c.-10 others(618): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATTATATATA AATATAAATTTTTATATATTTATATTTATGATATATAAATATAAATTTTT ATATATTTATATTTATGATATATAAATATAAATTTTTATATATTTATATT TATGATATATAAATATAAATTTTTATATATTTATATTTATGATATATAAA TATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTTGC others(600): Show ACCCTTGCACCCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCC CCCACTCACCCTCACCTCCCCCCCACCCCTGCACCTCCCCCTCCCCTGCA CCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAA TCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCC ATCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCCTCACCCT GCACCTCCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCAACCCTGCCACCTCCCCTCCCCCTGCA CCTCCCGCCCTCACCCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACC CCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCC TCCCTTCATCTCCCCCCTCACCCTCACCTCCCCCCCGCACCCTGCACCTC CCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	63	0.0159	607	c.-36 others(618): Show c.-3643_-3642insCCCTTGCACCCTCCCCCATCCTTCACCTCCCCTC TCACCCTCCACCTCCCCCACTCACCCTCACCTCCCCCCCACCCCTGCACC TCCCCCTCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACC CTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCACCTCCCCCATCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCCTCACCCTGCACCTCCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCAC CCCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCAACCCTGCCACC TCCCCTCCCCCTGCACCTCCCGCCCTCACCCCTGCACCTCCCCCCATCCT TTACCTCCCCCCACCCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAAT CCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCACCTCCCCCC CGCACCCTGCACCTCCCACCCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AK3_chr9_4704556_4746202	4713996	G G	GCCTACAC others(600): Show GCCTACACATATACACACCTCCACATATACGCCTACACATACACACACCT CCACATATACACACCTCCACATATACACACCTACACATATATGCCTACAC ATATATGCCTACACATATATGCCTACACATATATGCCTACACATATACAC ACCTCCACATATACACACCTCCACATATACACACCTCCACATATATGCCT ACACATATACACACCTCCACATATACACACCTCCACATAATACACCTACA CATATACACACCTACACATACACACCTCCACATACACACCTCCACATATA CACACCTACACATATACACACCTACACATATACGCCTACACATATACACA CCTCCACATATACACACCTCCACATACACACACCTCCACATATACGCCTA CACATATACACACCTCCACATATACACACCTCCACATATACGCCTACACA TATACACCTACACATATACACACCTCCACATACACACACCTCCACACATA CGCCTACACATATACGCCTACACATATACGCCTACACATATACACCTCCA CATATACACGCCTCCACATATACACGCCTACACATATACACACCTCCACA TTTACACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03579.hp1 HG02723.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0079 a0001c0001t0016 a0001c0001t0079	a0001c0001t0016g0099 a0001c0001t0079g0424 a0001c0001t0016g0099 a0001c0001t0079g0424	2	417	0.0048	607	c.564 others(622): Show c.564-901_564-900insTGTGTAAATGTGGAGGTGTGTATATGTGTA GGCGTGTATATGTGGAGGCGTGTATATGTGGAGGTGTATATGTGTAGGCG TATATGTGTAGGCGTATATGTGTAGGCGTATGTGTGGAGGTGTGTGTATG TGGAGGTGTGTATATGTGTAGGTGTATATGTGTAGGCGTATATGTGGAGG TGTGTATATGTGGAGGTGTGTATATGTGTAGGCGTATATGTGGAGGTGTG TGTATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGTAGGCGTATA TGTGTAGGTGTGTATATGTGTAGGTGTGTATATGTGGAGGTGTGTATGTG GAGGTGTGTATGTGTAGGTGTGTATATGTGTAGGTGTATTATGTGGAGGT GTGTATATGTGGAGGTGTGTATATGTGTAGGCATATATGTGGAGGTGTGT ATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGTAGGCATATAT GTGTAGGCATATATGTGTAGGCATATATGTGTAGGCATATATGTGTAGGT GTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTGTATGTGTAGGCGT ATATGTGGAGGTGTGTATATGTGTAGG	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
BCL11A_chr2_60452194_60558654	60468025	A A	AGTGATGG others(600): Show AGTGATGGTGGTAGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAG TGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTAGTGATGGT GGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGG TGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTA ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGT GGTAATGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGATGG TACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTG GTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGATGGTACTGGT GGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTAGTGATGGTGCTGGTGGTCATGGTACTTTGTGGT GATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATAA TGGTGGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	41	0.0244	607	c.487 others(622): Show c.487+706_487+707insCACCACCATTATCACTACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACAAAGTACCATGACCACC AGCACCATCACTACCACCACCACCACCATCACCACCACCACCATTACCAC CACCATCACTACCACCACCACCATCACCACCAGTACCATCACCACCACCA CCATCACTACCACCACCACCACCACCACCACCACCATTACCACCACCATC ACTACCACCACCACCATCACCACCAGTACCATCACCACCACCACCATCAC TACCACCACCACCACCACCACCATTACCACCACCATCACTACCACCACCA CCACCACCACCATCACCACCACCACCATTACCACCACCATCACTACCACC ACCACCACCACCACCACCACCATTACCACCACCATCACTACCACCACCAC CATCACCACCAGTACCATCACCACCACCACCATCACTACCACCACCACCA CCACCACCATTACCACCACCATCACTACCACCACCACCACCACCACCATC ACCACCACCACCATTACCACCACCATCACTACCACCACCACCATCACCAC CAGTACCATCACCACTACCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
C20orf96_chr20_265863_295750	279046	G G	GGGAGGGC others(600): Show GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGA GGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGG GACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGA GGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGA GGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGG GCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGA GGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	403	0.0025	607	c.465 others(622): Show c.465+125_465+126insGTCCCTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCC TCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTC CCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC TCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCC GCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCC TCCCTCCCTCCCTCCGTCCCGCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(600): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp1 NA20129.hp1 HG02559.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0037 a0001c0001t0008 a0001c0001t0037	a0001c0001t0008g0013 a0001c0001t0008g0141 a0001c0001t0037g0054 a0001c0001t0008g0013 a0001c0001t0008g0141 a0001c0001t0037g0054	3	136	0.0221	607	c.238 others(626): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC183_chr9_136791338_136812741	136803080	G G	GGGGGCCC others(600): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	350	0.0029	607	c.666 others(622): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803080	G G	GGGGGCCC others(600): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	607	c.666 others(622): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803080	G G	GGGGGCCC others(600): Show GGGGGCCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	350	0.0029	607	c.666 others(622): Show c.666+304_666+305insCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(600): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	218	0.0046	607	c.666 others(622): Show c.666+360_666+361insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(600): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	218	0.0046	607	c.666 others(622): Show c.666+360_666+361insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(600): Show CACTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTAGTTATATATACTATATATACTA TATATAGTAGTTATATATACTATATATACTATATATAGTTTCTATATATA CTATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02273.hp1 HG00733.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0055 a0001c0002t0003g0242 a0001c0001t0002g0055 a0001c0002t0003g0242	2	28	0.0714	607	c.349 others(622): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTAGTTATATATACTATATATACTA TATATAGTAGTTATATATACTATATATACTATATATAGTTTCTATATATA CTATATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278724	C C	CCCCCCTC others(600): Show CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCC CCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCC TCCCCTCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCC CCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCTCCCCCCATCCCCCCTCCCCTCCCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0018 a0001c0001t0011g0018	1	252	0.0040	607	c.-45 others(628): Show c.-455+14573_-455+14574insCTCCCCTCCCCCTCCCCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCC CCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCATCCCCCCTCCCCT CCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(600): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTC TCCCCTCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	12	0.0833	607	c.-45 others(628): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC TTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132826072	C C	CGGAGCCA others(600): Show CGGAGCCAGGCAGGGGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCA GGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCC ACGGAGACCAGCCACGGAGCCAGGCAGGAACTGGAGCCACAGAGACCAGC CACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAGCCAGG CAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAG CCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCACGGAGCCAG GCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGA GCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCGGAGCCACGGAGACC AGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAGAGCC AGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAGAGAC CAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAGC CAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGAGCC GGAGCCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG00099.hp1 HG01081.hp2	a0030 a0034 a0030 a0034	a0030c0056 a0034c0057 a0030c0056 a0034c0057	a0030c0056t0001 a0034c0057t0001 a0030c0056t0001 a0034c0057t0001	a0030c0056t0001g0163 a0034c0057t0001g0234 a0030c0056t0001g0163 a0034c0057t0001g0234	2	236	0.0085	607	c.711 others(626): Show c.7117+7285_7117+7286insATGGCTCCGGCTCCTGCCTGGCTCCG TGGCTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCAGTT CCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGGGTCTC TGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGC CCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCT CCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTC TCTGTGGCTCCGGCTCCTGCCTGGCTCCATGGCTCCGGCTCCTGCCTGGC TCCGTGGCTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGT CTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCC AGTTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTG GCTCCGTGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTG GTCTCCGTGGCTCCGGCCCCTGCCTGGCTCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(600): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAAT ATTTATTTTATATATAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAAT ATTTTATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	92	0.0109	607	c.80- others(622): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTT ATTTTATATATAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTT TATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNTN6_chr3_1088024_1409217	1245281	A A	ATATATAA others(600): Show ATATATAATATATATAACATATATATATTATATATATAACATATATATTA TATATATAACATATATATAATATATATATAACATATATATAATATATATA TAACATATATATAATATATATATAACATATATATAATATATATATAACAT ATATAATATATATATAACATATATAATATATATATCATATATATATTATA TATATATCATATATATATTATATATATAACATATATATAATATATATATA ACATATATATATAACATATATAACATATATATATAACATATATATAACAT ATATAACATATATAACATATATATATTATATATATAACATATATATTATA TATATAACATATATATAATATATATATAACATATATATATTATATATATC ATATATATAATATATATATAACATATATATATTATATATATATAACATAT ATATAATATATATATAACATATATATAATATATATAACATATATAATATA TATATAACATATATAATATATATATAACATATATATATAATATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	222	0.0045	607	c.358 others(626): Show c.358+17288_358+17289insTATATAATATATATAACATATATATA TTATATATATAACATATATATTATATATATAACATATATATAATATATAT ATAACATATATATAATATATATATAACATATATATAATATATATATAACA TATATATAATATATATATAACATATATAATATATATATAACATATATAAT ATATATATCATATATATATTATATATATATCATATATATATTATATATAT AACATATATATAATATATATATAACATATATATATAACATATATAACATA TATATATAACATATATATAACATATATAACATATATAACATATATATATT ATATATATAACATATATATTATATATATAACATATATATAATATATATAT AACATATATATATTATATATATCATATATATAATATATATATAACATATA TATATTATATATATATAACATATATATAATATATATATAACATATATATA ATATATATAACATATATAATATATATATAACATATATAATATATATATAA CATATATATATAATATATATATAACATATATATATAATATATATATAACA TATATATATAATATATATATAACATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(600): Show AGGGAGGGAGGAAGGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGGAG GGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGGAGGGGAGTGGAA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAAGGG GAGGGGGAGGGGGAGGGGAGGGGGAAGGGGAGGGGGAGGGGAAGGGGAGG GGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGACAG AGGGGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0139 a0003c0003t0002g0139	1	97	0.0103	607	c.923 others(626): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCC CTCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCC CCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCC TCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCCTCCCCATCCC TCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CATTCCTCCCTCCCTCCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(600): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACC CGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCG CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCA CCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACC CCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCC CACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCA CCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACC CGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCCC CACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCA CCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCACC CCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0019 a0019	a0019c0050 a0019c0050	a0019c0050t0001 a0019c0050t0001	a0019c0050t0001g0203 a0019c0050t0001g0203	1	86	0.0116	607	c.39 others(618): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGC GGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DNAJC4_chr11_64225548_64239281	64237081	C C	CGAGAGAG others(600): Show CGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGAGAGAGAGGGAGGGAGAGAGAGAGAGAGAGAG AGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	279	0.0036	607	c.28 others(618): Show c.2897_*2898insGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGGGAGA GAGAGAGAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2801		chr11	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATT others(600): Show ATATAATTATATATTATATATTATATATAATATATAATTATATATAATAT ATAATATATATTATATATAATTATATATTATATATATTATATAAATATAT AATATATTATATATAATTATATAATATATTATATATAATATATAATTATA TGTTATATATTATATATATTATATATTATATATATATTATATATATAATA TATATTATATATTAAATTATATATAATATATATTATATATATAATTTATA TATATAAAATATATTATATATTATATAAATATATATATTTTATATATATA AAATATATATTTTATAATATATAATATAGAAATATATATTATATAATATA TAATTATATATAATTATATATTATATAATATATATTTCTATATTATATAT TTATAATGTATAATATATAAATATATTATAAATATATATTATATACTATA TAATGCATTATAAATATATTATATTTATATATTATAAATATATTACATAT TTATATATTATATATATAATATATATATTATATATTATAAATATATTTTA TAAAATATAATATATATATTATATATTATATTTTATAAAATATAATAATA ATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	92	0.0109	607	c.551 others(626): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATATATAATATATATATTATATTTTATAAAATATATTTATAATA TATAATATATATATTATATATATAATATATAAATATGTAATATATTTATA ATATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATA TTTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATA TATATTATATAATATATAATTATATATAATTATATATTATATAATATATA TTTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATAT ATATTTATATAATATATAATATATTTTATATATATAAATTATATATATAA TATATATTATATATAATTTAATATATAATATATATTATATATATAATATA TATATAATATATAATATATATAATATATAACATATAATTATATATTATAT ATAATATATTATATAATTATATATAATATATTATATATTTATATAATATA TATAATATATAATTATATATAATATATATTATATATTATATATAATTATA TATTATATATAATATATAATATATAATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(600): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACC CTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTC TGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCC TCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGA GCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGC CCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTCC TCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCA TCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAG GGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCT GCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02683.hp1 HG03017.hp2 others(5): Show HG02129.hp1 HG02683.hp1 HG03017.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0006t0001g0067 others(3): Show a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0006t0001g0067 a0001c0006t0001g0076 a0001c0006t0001g0078 a0001c0006t0001g0082	8	59	0.1356	607	c.13 others(618): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGAGGGT GGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGGCAGG TTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGC AGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAG GGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGG GTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGC AGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCC CTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGG ATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
FAM118B_chr11_126206782_126267968	126226335	C C	CAGGCCAG others(600): Show CAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	343	0.0029	607	c.-76 others(624): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCCAG AAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAA GGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGA ACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACG TGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBXL14_chr12_1560993_1599581	1574360	A A	AGGAGGCT others(600): Show AGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTAAGAGGAGGCTG GTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAC TGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGG AGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTG TGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGG CTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGA GGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGG CTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGT GAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGC TGGTGGCAGTGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAG CGGTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGG TGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTG GGGTGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 NA18906.hp2 others(1): Show HG02258.hp1 HG02559.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0005 a0001c0003t0015 a0001c0001t0001 a0001c0002t0005 a0001c0003t0015	a0001c0001t0001g0142 a0001c0002t0005g0383 a0001c0002t0005g0384 others(1): Show a0001c0001t0001g0142 a0001c0002t0005g0383 a0001c0002t0005g0384 a0001c0003t0015g0053	4	403	0.0099	607	c.119 others(626): Show c.1195-7551_1195-7550insCCCCACCCCAGCCTCCACCCACACCG CTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCA GCCTCCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCC CACCCCAGCCTCCACCCACACCACTGCCACCAGCCTCCCCTCACCCAGCC TCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCAC ACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCTG CTGCCACCAGCCTCCCCCACCCCAGCCTCCCCTCACCCCAGCCTCCACCC ACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCATCCACACCGCTG CCACCAGCCTCCCCCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCT CCTCTCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACGGCTGCCA CCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCC CCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCTCTTACCCCA GCCTCCACCCACACCGCTGCCACCAGCCTCC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(600): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATGT ATATTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTACATACATATAAATATATATTTACATACATATA AATATATACATTTATATACATATAAATATATACATATATACATATAAATA TATATTTATATACATATAAATATATATATTTATATATATTTATATATATA TAAATATATATATATTTGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACATATAAATATATATTTA TATACATATAAATATATAATTATATACATATAAATATATAATTATATACA TATAAATATATATAATTATATACATATAAATATATATAATTATATACATA TAAATATATATTTATATACATATAAATTTATATACATATAAATATAAATA TTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0139 a0001c0004t0002g0139	1	28	0.0357	607	c.49 others(618): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATATTTATATGTATATAATTATATATTTATATGTA TATAATTATATATTTATATGTATATAAATATATATTTATATGTATATATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATATA TATATACAAATATATATATATTTATATATATATAAATATATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATT TATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATA TGTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATA TATATATTTATATGTATATAATATACATACATATATATTTATATGTATAT ACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(600): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATATATTTATATATATATAAATATATATATATTTGTATATATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATATA TATATACATATAAATATATATTTATATACATATAAATATATAATTATATA CATATAAATATATAATTATATACATATAAATATATATAATTATATACATA TAAATATATATTTATATACATATAAATTTATATACATATAAATATAAATA TTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00597.hp1 others(17): Show HG00099.hp1 HG00280.hp1 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp2 HG01192.hp2 HG02027.hp1 HG02056.hp2 HG02129.hp1 HG02155.hp2 HG02698.hp2 HG02738.hp2 HG03704.hp2 HG03710.hp2 HG06807.hp1 NA18955.hp1 NA18964.hp1 NA18986.hp1 NA19058.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0003c0010 a0004c0005 a0004c0006	a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 others(8): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0002c0002t0002 a0002c0002t0003 a0003c0003t0001 a0003c0003t0002 a0003c0010t0010 a0004c0005t0001 a0004c0005t0002 a0004c0006t0001	a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0081 others(17): Show a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0081 a0001c0001t0002g0173 a0001c0004t0001g0100 a0001c0004t0002g0098 a0002c0002t0002g0074 a0002c0002t0002g0108 a0002c0002t0002g0180 a0002c0002t0003g0066 a0003c0003t0001g0236 a0003c0003t0002g0216 a0003c0003t0002g0218 a0003c0003t0002g0222 a0003c0010t0010g0267 a0004c0005t0001g0252 a0004c0005t0001g0255 a0004c0005t0002g0204 a0004c0005t0002g0251 a0004c0006t0001g0209	20	47	0.4255	607	c.49 others(618): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATA TTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
IFFO2_chr1_18899280_18961676	18926017	A A	ATGGATGG others(600): Show ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0044 a0001c0001t0004g0045	2	364	0.0055	607	c.666 others(624): Show c.666-4897_666-4896insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCAACCAATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322401	T T	TATATACA others(600): Show TATATACATGGAATATATGTATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATAT ATGTATATGGAATATATACATGGAATATATATATGGAATATATACATGGA ATATATATATGGAATATATACATGGAATATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATAGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAACATATACATGGAATATATACATGGAACATATACAT GGAATATATACATGGAACATATACATGGAATATATATATATGGAACATAT ACGGAATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TGGAATATATATACGGAATATGTATATGGAATATATATATATGGAATATG TATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0198 a0002c0002t0040g0198	1	282	0.0035	607	c.-26 others(618): Show c.-2655_-2654insATATACATGGAATATATGTATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAAT ATATACATGGAATATATGTATATGGAATATATACATGGAATATATATATG GAATATATACATGGAATATATATATGGAATATATACATGGAATATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATAGAATATATACATGGAATATATATATGGAATATATACATGG AATATATATATATGGAATATATACATGGAACATATACATGGAATATATAC ATGGAACATATACATGGAATATATACATGGAACATATACATGGAATATAT ATATATGGAACATATACGGAATATATATATGGAATATATATACGGAATAT ATATATATGGAATATATATACGGAATATATATATGGAATATATATACGGA ATATATATATATGGAATATATATACGGAATATATATATATGGAATATATA TACGGAATATATATATGGAATATATATACGGAATATGTATATGGAATATA TATATATGGAATATGTATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2568		chr21	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(600): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCAACCACCCTGTCC TCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCAC CTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCCC CCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACCT CCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCCT CCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTC CTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCC TCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTC CTCCCCCACCTCCCCCCCTCCCCCCCTCCTCCCTGTCTTCCTCCCCCACC TCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCC TCCTCCCA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	11	0.0909	607	c.10- others(624): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCAC CTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTC CCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCC TCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTG CTCTCCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCTCCTCCCTGT CTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(600): Show CTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCT CTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCC CTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCCCCCTCTCT CCCCTCCCCCTCCCCTCTCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTCT CCCCCTTCCCTCCCCCCTCTCCCCCTCCTCCTCCCCCCTCCCCCTCCCCC CATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCCC CATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCC CTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCT CCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCC CTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCCCT CCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCT TCCCCCTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0003 a0003c0020t0003	a0003c0020t0003g0070 a0003c0020t0003g0070	1	56	0.0179	607	c.11 others(628): Show c.1103+4103_*1103+4104insTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTC TCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCC CCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCTCCCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTC TCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCTCCTCCTCCC CCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCC CATCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCC CCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTC TCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTC TCTCTCCCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCT CTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCAGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	157	0.0064	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCTGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCAGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCACCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0117 a0002c0002t0003g0117	1	157	0.0064	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCTGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0021 a0001c0006t0002g0021	1	157	0.0064	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCTGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCACCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 NA20905.hp2 HG01257.hp2 HG01258.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0225 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0001g0225 a0002c0002t0002g0223 a0002c0002t0002g0224	3	159	0.0189	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGTGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(600): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCACCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTC ACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCAGCCTTCACCTCAAGGATCCGCCTTCACCTC GGGGATCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG02818.hp1 others(1): Show HG02258.hp2 HG02647.hp1 HG02818.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0004g0191 a0001c0005t0001g0189 a0001c0005t0001g0190 others(1): Show a0001c0001t0004g0191 a0001c0005t0001g0189 a0001c0005t0001g0190 a0001c0005t0001g0192	4	160	0.0250	607	c.-61 others(624): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCTTG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCCGAGGTGAAGGTGGATCCCCGAGGTGAAGGCTGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC GGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGT GAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCA GAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAG ATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAG GTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGAT CCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar

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