Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(163): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCGCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0090 a0009c0027t0001g0090	1	428	0.0023	170	c.217 others(187): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCGCCCCGCCCCGCCCCGCCCCTCCCCTCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575519	C C	CATATATA others(163): Show CATATATACACGTATATATACTCATATACATGTGTATATATACACGTATA TATACTCATATACATGTGTATATATACACGTATATATACTCATATACATG TGTATATATACACGTATATATACTCATATACATGTGTATATATACACGTA TATATACTCATATACATGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0157 a0003c0005t0002g0157	1	372	0.0027	170	c.894 others(185): Show c.894+751_894+752insACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGT ATATATACACATGTATATGAGTATATATACGTGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(163): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	372	0.0027	170	c.894 others(185): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575824	G G	GTATATAT others(163): Show GTATATATACGTGTATATATACTCATACATGTGTATATATACGTGTATAT ATACTCATATACATGAGTATATATACGTGTATATATACTCATATACATGT GTATATATACGTGTATATATACTCATATACATGTGTATATATACGTGTAT ATATACTCATATACATGTGTA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	372	0.0027	170	c.894 others(185): Show c.894+446_894+447insTACACATGTATATGAGTATATATACACGTA TATATACACATGTATATGAGTATATATACACGTATATATACACATGTATA TGAGTATATATACACGTATATATACTCATGTATATGAGTATATATACACG TATATATACACATGTATGAGTATATATACACGTATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCCCTCC others(163): Show CTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	223	0.0045	170	c.-42 others(181): Show c.-4275_-4274insTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar
CNR2_chr1_23865515_23918362	23899932	A A	AAAGGAAG others(163): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAAGAAGGAAA GAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAA GAAAAGAAAGAAAGAGGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0065 a0003c0003t0065	a0003c0003t0065g0185 a0003c0003t0065g0185	1	268	0.0037	170	c.-46 others(189): Show c.-46+13313_-46+13314insCTTCCCTCTTTCTTTCTTTTCTTTCT TTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899932	A A	AAAGGAAG others(163): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAA GAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAA GAAAAGAAAGAAAGAGGGAAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	268	0.0037	170	c.-46 others(189): Show c.-46+13313_-46+13314insCTTCCCTCTTTCTTTCTTTTCTTTCT TTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGAAG others(163): Show GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAAGAAAAGAAAGAA AGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0208 a0003c0003t0009g0208	1	268	0.0037	170	c.-46 others(189): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL18A1_chr21_45400165_45518720	45490482	C C	CCATGTGC others(163): Show CCATGTGCCCTCGTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCT GGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTCCGTGTGCCCACTCCC GGGTCTCTGGGCCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGC CCTCCCGGGTCCCTGGGCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp2 HG02258.hp2 others(14): Show HG00544.hp1 HG00733.hp2 HG02258.hp2 HG02280.hp1 HG02683.hp1 HG02717.hp1 HG02922.hp2 HG04228.hp1 NA18944.hp1 NA18964.hp2 NA18969.hp1 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19010.hp2 NA19088.hp2	a0003 a0011 a0019 others(2): Show a0003 a0011 a0019 a0020 a0026	a0003c0009 a0003c0010 a0003c0015 others(7): Show a0003c0009 a0003c0010 a0003c0015 a0003c0045 a0003c0046 a0003c0047 a0011c0040 a0019c0096 a0020c0094 a0026c0044	a0003c0009t0001 a0003c0010t0002 a0003c0010t0006 others(8): Show a0003c0009t0001 a0003c0010t0002 a0003c0010t0006 a0003c0015t0001 a0003c0045t0006 a0003c0046t0001 a0003c0047t0001 a0011c0040t0001 a0019c0096t0015 a0020c0094t0011 a0026c0044t0001	a0003c0009t0001g0054 a0003c0009t0001g0171 a0003c0009t0001g0247 others(14): Show a0003c0009t0001g0054 a0003c0009t0001g0171 a0003c0009t0001g0247 a0003c0010t0002g0068 a0003c0010t0002g0151 a0003c0010t0002g0172 a0003c0010t0006g0014 a0003c0015t0001g0168 a0003c0015t0001g0189 a0003c0015t0001g0202 a0003c0045t0006g0242 a0003c0046t0001g0002 a0003c0047t0001g0069 a0011c0040t0001g0046 a0019c0096t0015g0045 a0020c0094t0011g0075 a0026c0044t0001g0037	17	292	0.0582	170	c.203 others(187): Show c.2031+137_2031+138insATGTGCCCTCGTGGGTCCCTGGGCCTCC ATGTGCCCTCGTGGGTTCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGG GCCTCCGTGTGCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCTCAG GTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	20/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL22A1_chr8_138583235_138919041	138660899	A A	AACACACA others(163): Show AACACACACATACACAGACACACACACAGACACACACATAAACACACAGA CACACACGCACACACACATACACACACAGACACACATACACACATACACA CATACACACATACACACACAGACACACACACAAACACACAGACACACACA TACACAGACACACACATAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02630.hp1 others(6): Show HG02055.hp1 HG02451.hp1 HG02630.hp1 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03516.hp1 HG06807.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0001c0012 a0001c0018 others(5): Show a0001c0010 a0001c0012 a0001c0018 a0001c0024 a0001c0026 a0001c0027 a0001c0056 a0004c0040	a0001c0010t0007 a0001c0012t0002 a0001c0018t0004 others(6): Show a0001c0010t0007 a0001c0012t0002 a0001c0018t0004 a0001c0024t0004 a0001c0024t0016 a0001c0026t0001 a0001c0027t0002 a0001c0056t0004 a0004c0040t0004	a0001c0010t0007g0155 a0001c0012t0002g0059 a0001c0018t0004g0086 others(6): Show a0001c0010t0007g0155 a0001c0012t0002g0059 a0001c0018t0004g0086 a0001c0024t0004g0136 a0001c0024t0016g0158 a0001c0026t0001g0061 a0001c0027t0002g0022 a0001c0056t0004g0039 a0004c0040t0004g0035	9	158	0.0570	170	c.324 others(187): Show c.3241-420_3241-419insGTTTATGTGTGTGTCTGTGTATGTGTGT GTCTGTGTGTTTGTGTGTGTGTCTGTGTGTGTATGTGTGTATGTGTGTAT GTGTGTATGTGTGTCTGTGTGTGTATGTGTGTGTGCGTGTGTGTCTGTGT GTTTATGTGTGTGTCTGTGTGTGTGTCTGTGTATGTGTGTGT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	43/64			chr8	TogoVar
COL4A3_chr2_227159624_227319792	227203018	T T	TATATATA others(163): Show TATATATACATATATGTGTATATATGTGTATATATATACATATATGTGTA TATATGTGTATATATACATATATGTGTATATATGTGTATATATGTGTATA TATACATATATATACATATATGTGTATATATACGTATATATACATATATG TGTATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0026 a0026	a0026c0049 a0026c0049	a0026c0049t0001 a0026c0049t0001	a0026c0049t0001g0272 a0026c0049t0001g0272	1	344	0.0029	170	c.88- others(187): Show c.88-34944_88-34943insACATATATGTGTATATATGTGTATATAT ATACATATATGTGTATATATGTGTATATATACATATATGTGTATATATGT GTATATATGTGTATATATACATATATATACATATATGTGTATATATACGT ATATATACATATATGTGTATATATACGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203759	A A	ATATGTGT others(163): Show ATATGTGTATATATACGTATGTGTGTATATGTGTATATATACGTATATGT GTGTATATGTGTATATATACGTATATGTGTGTATATGTGTATATATACGT ATATGTGTGTATATGTATATATACGTATATGTGTATATATACGTATATGT GTGTATATACGTATATGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03209.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0013 a0002c0007t0010 a0002c0004t0013 a0002c0007t0010	a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0010g0052 a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0010g0052	3	344	0.0087	170	c.88- others(187): Show c.88-34206_88-34205insGTGTATATATACGTATGTGTGTATATGT GTATATATACGTATATGTGTGTATATGTGTATATATACGTATATGTGTGT ATATGTGTATATATACGTATATGTGTGTATATGTATATATACGTATATGT GTATATATACGTATATGTGTGTATATACGTATATGTGTGTAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	442006	C C	CACACACA others(163): Show CACACACACACACACACACACACACACACACACACACAGCTTCTGATGAC TGTCAGTGGGGACTGAGTGAGACTCTCTCTCTCTACACACACACACACAC ACACACACACACACACACACACACAGCTTCTGATGACTGTCAGTGGGGAC TGAGTGAGACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 HG02145.hp1 HG02896.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0009 a0002c0001 a0006c0009	a0002c0001t0234 a0006c0009t0100 a0002c0001t0234 a0006c0009t0100	a0002c0001t0234g0333 a0006c0009t0100g0133 a0002c0001t0234g0333 a0006c0009t0100g0133	2	366	0.0055	170	c.58+ others(187): Show c.58+38700_58+38701insAGAGAGAGAGAGTCTCACTCAGTCCCCA CTGACAGTCATCAGAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTAGAGAGAGAGAGTCTCACTCAGTCCCCACTGACAGTCATCA GAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	442008	C C	CACACACA others(163): Show CACACACACACACACACACACACACACACACACACACAGCTTCTGATGAC TGTCAGTGGGGACTGAGTGAGACTCTCTCTCTCTACACACACACACACAC ACACACACACACACACACACACACAGCTTCTGATGACTGTCAGTGGGGAC TGAGTGAGACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0041 a0003c0002t0041	a0003c0002t0041g0307 a0003c0002t0041g0307	1	366	0.0027	170	c.58+ others(187): Show c.58+38698_58+38699insAGAGAGAGAGAGTCTCACTCAGTCCCCA CTGACAGTCATCAGAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTAGAGAGAGAGAGTCTCACTCAGTCCCCACTGACAGTCATCA GAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(163): Show CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCGTCTCCTCTCTCTCCGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0056	1	350	0.0029	170	c.510 others(189): Show c.510+24113_510+24114insTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(163): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19065.hp2 NA18972.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0156 a0001c0002t0001g0141 a0001c0002t0001g0156	2	350	0.0057	170	c.510 others(189): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(163): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02300.hp2 HG03710.hp2 others(1): Show HG02071.hp2 HG02300.hp2 HG03710.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0001g0148 others(1): Show a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0001g0148 a0001c0002t0001g0185	4	350	0.0114	170	c.510 others(189): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(163): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18964.hp1 NA19062.hp2 others(1): Show NA18961.hp2 NA18964.hp1 NA19062.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0111 a0001c0002t0001g0112 others(1): Show a0001c0002t0001g0098 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0180	4	350	0.0114	170	c.510 others(189): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(163): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp1 HG02273.hp2 others(3): Show HG00280.hp1 HG01261.hp1 HG02273.hp2 HG03130.hp2 NA18965.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0327 a0001c0001t0001g0335 a0001c0002t0001g0102 others(3): Show a0001c0001t0001g0327 a0001c0001t0001g0335 a0001c0002t0001g0102 a0001c0002t0001g0164 a0001c0002t0001g0178 a0001c0002t0001g0187	6	350	0.0171	170	c.510 others(189): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(163): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01123.hp1 HG00423.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0151 a0001c0002t0001g0097 a0001c0002t0001g0151	2	350	0.0057	170	c.510 others(189): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(163): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCC CCCCGCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0307 a0002c0004t0002g0307	1	348	0.0029	170	c.927 others(185): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCCGCCCCCGCCCCCGCCCCCGCC CCCGCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(163): Show GCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCCGCCCCGCCC CCTCAGTCCGTGACCCCGCCCCCTCCACACCGGGACCCGCCCCCCGCCCA CCCGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCCC GCCCCCGCCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	348	0.0029	170	c.927 others(185): Show c.927+237_927+238insTCCCTGCCCCCTCAGTCTGTGGCCCCGCCC CGCCCCGCCCCCTCAGTCCGTGACCCCGCCCCCTCCACACCGGGACCCGC CCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCCCCC GCCGCCCCCCGCCCCCGCCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF3_chr2_9418654_9478101	9428157	T T	TGGCTAAT others(163): Show TGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG01884.hp2 others(11): Show HG01070.hp2 HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0130 a0001c0001t0001g0131 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144	14	230	0.0609	170	c.51- others(183): Show c.51-596_51-595insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9428157	T T	TGGCTAAT others(163): Show TGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02717.hp2 HG03098.hp1 others(3): Show HG01496.hp2 HG02717.hp2 HG03098.hp1 NA18522.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(3): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146	6	230	0.0261	170	c.51- others(183): Show c.51-596_51-595insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(163): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATTTCTATATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	370	0.0027	170	c.56 others(181): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATTTCTATATATATATATATT TCTATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(163): Show ATATATATATATATATATATATATATATATATATATATATATATATTTCT ATATATATATATATATATATTTCTATATATATATTTCTATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	370	0.0027	170	c.56 others(181): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATTTCTATATATATATATATATATATTTCTATATATATATT TCTATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(163): Show ATATATATATATATATATATATATATATATATATATATATATATTTCTAT ATATATATATATATATATTTCTATATATATATATATTTCTATATATATAT ATTTCTATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0221 a0001c0001t0015g0222 a0001c0001t0015g0221 a0001c0001t0015g0222	2	370	0.0054	170	c.56 others(181): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATTTCTATATATATATATATATATATTTCTATATATATATATA TTTCTATATATATATATTTCTATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(163): Show ATATATATATATATATATATATATATATATATATATATATTTCTATATAT ATATATATATATATATTTCTATATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01943.hp2 NA19085.hp1 HG01192.hp2 HG01943.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0001g0212	3	370	0.0081	170	c.56 others(181): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATTTCTATATATATATATATATATATATTTCTATATATATATATATT TCTATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(163): Show ATATATATATATATATATATATATATATATATATATATTTCTATATATAT ATATATATATATATATTTCTATATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	370	0.0027	170	c.56 others(181): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATTTCTATATATATATATATATATATATATTTCTATATATATATATATT TCTATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(163): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTCTATATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	370	0.0027	170	c.56 others(181): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTCTATATATATATATATT TCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(163): Show ATATATATATATATATATATATTTCTATATATATATATATATATATTTCT ATATATATATATATATTTCTATATATATATATTTCTATATATATATATTT CTATATATATATATTTCTATATATATATATTTCTATATATATATATATAT TTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	370	0.0027	170	c.56 others(181): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATTTCTATATATATATATATATTTCTATATATATATATTTC TATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTA TATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240924204	C C	CCCCACAC others(163): Show CCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAG TCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0263 a0001c0020t0002g0263	1	350	0.0029	170	c.489 others(187): Show c.489-1517_489-1516insACACTAACCCAGCCCCCACACTAACCCA GCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCTCACACTAAC CCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSPP1_chr8_67059392_67201614	67159924	C C	CTCTTTCT others(163): Show CTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCCTTCCTTCCTTCCTCCTTC CTTCCTTCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTTCTTCCTTCCT TCCTTCTTTCTTTCTTTTCTTTTCCTTTCTTTCTTTCCTTCCTTCCTTCC TTCTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	158	0.0063	170	c.253 others(187): Show c.2538+787_2538+788insTCTTTCTTTCTTTCTTTCTTTCCTTCTT TCCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTTCCTTCCTCCTTCCTT CCTTCTTCCTTCTTCCTTCCTTCCTTCTTTCTTTCTTTTCTTTTCCTTTC TTTCTTTCCTTCCTTCCTTCCTTCTCTTTCTTTCTTTCTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30			chr8	TogoVar
CTU2_chr16_88701503_88720396	88713164	A A	ACCCGAGA others(163): Show ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATGCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0187 a0003c0004t0001g0187	1	418	0.0024	170	c.738 others(185): Show c.738-146_738-145insCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232165	T T	TACCCGCC others(163): Show TACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCAC CGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	396	0.0025	170	c.513 others(185): Show c.513-999_513-998insTATTACTGCTGCTGCCACCACCAGTATTAC TGTCACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTAC CCGCCCACCACCATTACTGTCACCACCACCCGCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232165	T T	TACCCGCC others(163): Show TACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCAC CGCCACCACCGCTATTACTACTGTCACCACCACCTGTCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01106.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0186 a0001c0001t0003g0187	2	396	0.0051	170	c.513 others(185): Show c.513-999_513-998insTATTACTGCTGCTGCCACCACCAGTATTAC TGTCACCGCCACCACCGCTATTACTACTGTCACCACCACCTGTCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTAC CCGCCCACCACCATTACTGTCACCACCACCCGCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUX2_chr12_111029165_111355554	111325978	G G	GGGTTTTG others(163): Show GGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAG TGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTTTATAG TGTTGGGGTGGGGGAGGGGTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0075 a0001c0004t0006g0075	1	100	0.0100	170	c.292 others(189): Show c.2926+3417_2926+3418insTGATGGGGGAGGGGTGGGTTTTGTTT ATAGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGGGA GGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTTT ATAGTGTTGGGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYFIP1_chr15_22862052_22985368	22963494	A A	AATAACAT others(163): Show AATAACATAACATAACATAACATAACATAACATAACATAACATAACATAA CATAACATAACATAACATAACATAACATAACATAACATAACATAACATAA CATAACATAACATAACATAACATAACATAACATAACATAACATAACATAA CATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0009 a0002c0025t0009	a0002c0025t0009g0076 a0002c0025t0009g0076	1	342	0.0029	170	c.-6- others(187): Show c.-6-16204_-6-16203insGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYLC1_chrX_83856146_83891698	83878374	T T	TATATAAA others(163): Show TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATAAATATATAAA TATATATAAATATATAAATATATATATATAAATATATAAATATATATAAA TATATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	208	0.0048	170	c.192 others(189): Show c.1923+3748_1923+3749insAATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATAAATATATAAATATATATAAATATATAAATATATATATATAAA TATATAAATATATATAAATATATAAATATATATATATAAATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP3A5_chr7_99643194_99684996	99675633	T T	TCCCCACT others(163): Show TCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCCCCTCC CCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCC TCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCCCTCCTCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0193 a0002c0003t0001g0193	1	292	0.0034	170	c.165 others(185): Show c.165+481_165+482insGGGAGGGGGGAGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGGGAGGGG AGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAGGGGAGGGGAA GGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TCTTTCTC others(163): Show TCTTTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTTCCTTCCTTCC TTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCGTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTTTCTCT TTCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	424	0.0024	170	c.918 others(185): Show c.918+555_918+556insCTTTCTCTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTTCCTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGT TCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCT TCTTTCTTTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12			chr19	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(163): Show ATGTGTGTGTATATATACATATATACTATATGTGTGTATATATATACATA TATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTATA TATATACATATATATACTATATATGTGTGTGTGTGTATATATATATATAT ATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0022 a0002c0003t0020g0022	1	380	0.0026	170	c.-11 others(181): Show c.-1175_-1174insTGTGTGTGTATATATACATATATACTATATGTGT GTATATATATACATATATACTATATGTGTGTATATATATACATATATACT ATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTGTG TATATATATATATATATATATATTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(163): Show ATGTGTGTGTATATATACATATATACTATATGTGTGTATATATATACATA TATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTATA TATATACATATATATACTATATATGTGTGTGTGTGTATATATATATATAT ATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03225.hp1 HG06807.hp2 HG03209.hp2 HG03225.hp1 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0068 a0002c0003t0020 a0002c0003t0068	a0002c0003t0020g0022 a0002c0003t0068g0022 a0002c0003t0020g0022 a0002c0003t0068g0022	3	380	0.0079	170	c.-11 others(181): Show c.-1175_-1174insTGTGTGTGTATATATACATATATACTATATGTGT GTATATATATACATATATACTATATGTGTGTATATATATACATATATACT ATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTGTG TATATATATATATATATATATTTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCDC1_chr11_30858603_31374739	31213162	T T	TCTCTCCC others(163): Show TCTCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC CTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0027 a0027	a0027c0025 a0027c0025	a0027c0025t0001 a0027c0025t0001	a0027c0025t0001g0085 a0027c0025t0001g0085	1	152	0.0066	170	c.122 others(191): Show c.1221+28287_1221+28288insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGAG	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DCDC2_chr6_24166755_24363059	24359355	A A	ATATATAT others(163): Show ATATATATATTATATATATTTTATATATTATATATTATATATATTTTATA TATTATATATTATATATATTTTATATATTATATATTATATATATTTTATA TATTATATATTATATATATTTTATATATTATATATTATATATATTTTATA TATTATATATTATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0080 a0003c0003t0005g0080	1	216	0.0046	170	c.-16 others(181): Show c.-1606_-1605insAAATATATATAATATATAATATATAAAATATATA TAATATATAATATATAAAATATATATAATATATAATATATAAAATATATA TAATATATAATATATAAAATATATATAATATATAATATATAAAATATATA TAATATATAATATATAAAATATATATAATATATATA	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		1297		chr6	TogoVar
DDX10_chr11_108660069_108945927	108678768	C C	CCTGATGT others(163): Show CCTGATGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCACTCTTTCGCCCAAGCTGGACTGCAGTGGCGC TATCCCGGCTCACTGCAAGCTCTGCCTCTTGGGTTCATGTCATTCTCCTG CCTCAGCCTCCCGAGTAGCTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA20129.hp1 HG01106.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0139 a0001c0001t0001g0140	2	320	0.0063	170	c.658 others(185): Show c.658+348_658+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCACTCTTTCGCCCAAGCTGGACTGCAGTG GCGCTATCCCGGCTCACTGCAAGCTCTGCCTCTTGGGTTCATGTCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGCTGATGTGTATTTTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX51_chr12_132131594_132149319	132148904	C C	CGCCGCCT others(163): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	334	0.0030	170	c.-46 others(181): Show c.-4609_-4608insACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCG AGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGG CACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCA CCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4586		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149006	T T	TACCACAC others(163): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCTCACTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	170	c.-47 others(181): Show c.-4711_-4710insGTGAGTGAGGCGGCACTCACCGAGGGGATTAGGG GTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGG TGTGAGTGAGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4688		chr12	TogoVar
DGKD_chr2_233349494_233477098	233463515	G G	GTCCTCAC others(163): Show GTCCTCACTGCACGCATGTCCTCACTGCACGCATCTCCTCACTCCACGCA TCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGC ATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACG CATCTCCTCACTCCACGCATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0248 a0001c0002t0003g0248	1	336	0.0030	170	c.318 others(187): Show c.3187-641_3187-640insGCACGCATGTCCTCACTGCACGCATCTC CTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCT CCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATC TCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463515	G G	GTCCTCAC others(163): Show GTCCTCACTGCACGCATGTCCTCACTGCACGCATGTCCTCACTCCACGCA TCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGC ATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACG CATCTCCTCACTCCACGCATC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02970.hp1 HG01099.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0028 a0001c0003t0005g0144 a0001c0001t0005g0028 a0001c0003t0005g0144	2	336	0.0060	170	c.318 others(187): Show c.3187-641_3187-640insGCACGCATGTCCTCACTGCACGCATGTC CTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCT CCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATC TCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar