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
CUL4A_chr13_113204613_113272108	113232190	C C	CTGCCACC others(189): Show CTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCC ACCACCACCTGTCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	232	0.0043	196	c.513 others(211): Show c.513-987_513-986insTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATT ACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGT	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(189): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTA CCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACCG CCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	314	0.0032	196	c.513 others(211): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACC ACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCAC CTGTCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232254	C C	CCACCACT others(189): Show CCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCG CCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0175 a0001c0001t0018g0175	1	227	0.0044	196	c.513 others(211): Show c.513-913_513-912insTGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGT CACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCAT TACTGTCACCACTACC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(189): Show ATATATATGTGTATATATATATATATATATATATGTGTATATATATATAT ATATATATATATGTGTATATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATGTGTATATATAT ATATATATATATATATATGTGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0223	1	218	0.0046	196	c.290 others(211): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TGTGTATATATATATATATATATATATATGTGTATATATATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATATGTGTATATATATATATATATATATATATATGTGTATATATATATA TATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24359234	A A	ATATATTA others(189): Show ATATATTATATATATTTTATATATTATATATTATATATATTTTATATATT ATATATAATATATATTTTATATATTTTATATATTATATATAATATATATT TTATATTTTATATATTATATATAATATATATTTTATATTTTATATATTAT ATATAATATATATTTTATATTTTATATATTATATATAATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03831.hp2 HG03710.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0014 a0001c0001t0001 a0002c0002t0014	a0001c0001t0001g0158 a0002c0002t0014g0157 a0001c0001t0001g0158 a0002c0002t0014g0157	2	130	0.0154	196	c.-14 others(207): Show c.-1485_-1484insAAATATATATTATATATAATATATAAAATATAAA ATATATATTATATATAATATATAAAATATAAAATATATATTATATATAAT ATATAAAATATAAAATATATATTATATATAATATATAAAATATATAAAAT ATATATTATATATAATATATAAAATATATATAATATATAATATATAAAAT ATATATAATATA	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		1176		chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251015	T T	TCCCCCTC others(189): Show TCCCCCTCACACCCCCCAACACCCCCACACACCCCCCCACACCACACATC CCTCACACCCCCCACATCCCCCACACACCCCCCACACCCCCCAACACCCC CACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACATC CCCCACACACCCCCCACACCCCCCAACACCCCCACACCCCCACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0074 a0004c0005t0001g0074	1	22	0.0455	196	c.207 others(215): Show c.2073+1336_2073+1337insTCACACCCCCCAACACCCCCACACAC CCCCCCACACCACACATCCCTCACACCCCCCACATCCCCCACACACCCCC CACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATC CCTCACACCCCCCACATCCCCCACACACCCCCCACACCCCCCAACACCCC CACACCCCCACACACCCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DGKB_chr7_14140049_14907751	14211576	A A	ATTTACTC others(189): Show ATTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCCTCTCATGTTTTGTGATTTTACTCTCA TGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTT GTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	139	0.0072	196	c.212 others(217): Show c.2123-33426_2123-33425insATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAAC ATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAG GAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAA TATCACAAAACACGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212132	T T	TATTTACT others(189): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0123 a0001c0001t0023g0123	1	95	0.0105	196	c.212 others(217): Show c.2123-33982_2123-33981insTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAA ACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAG AGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAA ATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(189): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	218	0.0046	196	c.101 others(215): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(189): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01934.hp2 HG03669.hp2 others(2): Show HG01106.hp1 HG01934.hp2 HG03669.hp2 NA18994.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0035 a0001c0002t0003 a0001c0001t0001 a0001c0001t0035 a0001c0002t0003	a0001c0001t0001g0121 a0001c0001t0001g0159 a0001c0001t0035g0139 others(2): Show a0001c0001t0001g0121 a0001c0001t0001g0159 a0001c0001t0035g0139 a0001c0002t0003g0126 a0001c0002t0003g0171	5	222	0.0225	196	c.101 others(215): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	321834	G G	GGCGAGAG others(189): Show GGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGC GAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	53	0.0189	196	c.392 others(215): Show c.3924+5171_3924+5172insTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACACTGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTT CTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTC TAACAACGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321981	G G	GGCGAGAG others(189): Show GGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA GTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG TGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0007 a0001c0018t0003g0007	1	60	0.0167	196	c.392 others(215): Show c.3924+5024_3924+5025insTGGACCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTT CTAACAACACTGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTC TAACAACACTGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323061	C C	CGAGAGAC others(189): Show CGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	79	0.0127	196	c.392 others(215): Show c.3924+3944_3924+3945insACCGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAGCGCCGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACT GTTCTAACAACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGT TCTAACAACGCCGGTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323404	C C	CGAGAGAC others(189): Show CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCAGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGGCCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0065 a0001c0017t0002g0065	1	82	0.0122	196	c.392 others(215): Show c.3924+3601_3924+3602insACTGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACT GTTCTAACAACACCGGCCTCTCGCCGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCGCTGGACCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429448	C C	CCCCCCCG others(189): Show CCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCC CGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCC CTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCT GCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0032 a0001c0014t0001g0032	1	88	0.0114	196	c.395 others(213): Show c.395-6416_395-6415insAGGCAGCCAGGGCCCGGGGGGAGGCAGC CAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGC CCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGG GGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGG CAGCCAGGGCCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DLEC1_chr3_38034208_38129025	38087553	C C	CACACCAT others(189): Show CACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCAT CAGCATGCTCACACCATCCATCAGCACTGACACCATCCATTAGCACTGAC ACCATCCATCAGCATGCTCACACCATCCATCAGCACTGACACCATCCATC AGCATGCTCACACCATCCATCAGCACTGACACCATCCATTAGCACTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02572.hp2 HG01934.hp2 HG02572.hp2	a0001 a0014 a0001 a0014	a0001c0031 a0014c0027 a0001c0031 a0014c0027	a0001c0031t0003 a0014c0027t0001 a0001c0031t0003 a0014c0027t0001	a0001c0031t0003g0029 a0014c0027t0001g0220 a0001c0031t0003g0029 a0014c0027t0001g0220	2	281	0.0071	196	c.157 others(213): Show c.1573-713_1573-712insTAGCACTGACACCATCCATCAGCATGCT CACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCAT CAGCATGCTCACACCATCCATCAGCACTGACACCATCCATCAGCATGCTC ACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCATC AGCACTGACACCATCCAT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLEC1_chr3_38034208_38129025	38087553	C C	CACACCAT others(189): Show CACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCAT CAGCATGCTCACACCATCCATCAGCACTGACACCATCCATTAGCACTGAC ACCATCCATCAGCATGCTCACACCATCCATCAGCACTGACACCATCCATC AGCATGCTCACACCATCCATTAGCACTGACACCATCCATTAGCACTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01074.hp2 others(14): Show HG00621.hp2 HG00642.hp1 HG01074.hp2 HG01192.hp2 HG01433.hp2 HG02004.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02630.hp2 HG02895.hp2 HG02896.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 NA20752.hp1 NA20752.hp2	a0001 a0011 a0001 a0011	a0001c0004 a0001c0013 a0001c0018 others(5): Show a0001c0004 a0001c0013 a0001c0018 a0001c0028 a0001c0029 a0001c0038 a0001c0039 a0011c0049	a0001c0004t0001 a0001c0004t0002 a0001c0013t0001 others(6): Show a0001c0004t0001 a0001c0004t0002 a0001c0013t0001 a0001c0018t0002 a0001c0028t0001 a0001c0029t0005 a0001c0038t0001 a0001c0039t0001 a0011c0049t0002	a0001c0004t0001g0214 a0001c0004t0002g0206 a0001c0004t0002g0207 others(14): Show a0001c0004t0001g0214 a0001c0004t0002g0206 a0001c0004t0002g0207 a0001c0004t0002g0208 a0001c0004t0002g0209 a0001c0004t0002g0210 a0001c0004t0002g0211 a0001c0004t0002g0216 a0001c0004t0002g0217 a0001c0004t0002g0219 a0001c0013t0001g0215 a0001c0018t0002g0163 a0001c0028t0001g0218 a0001c0029t0005g0135 a0001c0038t0001g0008 a0001c0039t0001g0149 a0011c0049t0002g0212	17	296	0.0574	196	c.157 others(213): Show c.1573-713_1573-712insTAGCACTGACACCATCCATCAGCATGCT CACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCAT CAGCATGCTCACACCATCCATCAGCACTGACACCATCCATCAGCATGCTC ACACCATCCATTAGCACTGACACCATCCATTAGCACTGACACCATCCATC AGCACTGACACCATCCAT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLG2_chr11_83450173_85632344	84100255	C C	CGATATAT others(189): Show CGATATATATATATCTAAAGAGATATATATATCTAAAGGTATATATATAT CTAAAGAGATATATATATCTAAAGGTATATATATATCTAAAGAGATATAT ATATCTAAAGAGATATATATATATCTAAAGAGATATATATCTAAAGATAT ATATCTCTAAAGAGATATATATATATAAAGATATATATATCTCTAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	3	0.3333	196	c.625 others(213): Show c.625-1209_625-1208insTTTAGAGATATATATATCTTTATATATA TATATCTCTTTAGAGATATATATCTTTAGATATATATCTCTTTAGATATA TATATATCTCTTTAGATATATATATCTCTTTAGATATATATATACCTTTA GATATATATATCTCTTTAGATATATATATACCTTTAGATATATATATCTC TTTAGATATATATATATC	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	9/27			chr11	TogoVar
DNAH10_chr12_123757301_123940714	123911989	G G	GGGGGGGG others(189): Show GGGGGGGGTCTGTGTTGGGGTGTCTGTCCTGGGGGGTCTGTCCTGGGGGG GGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGGT CTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCCGGGGGGGTCTGTC CTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0055 a0055	a0055c0049 a0055c0049	a0055c0049t0001 a0055c0049t0001	a0055c0049t0001g0078 a0055c0049t0001g0078	1	167	0.0060	196	c.101 others(217): Show c.10135-1097_10135-1096insGTTGGGGTGTCTGTCCTGGGGGGT CTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGGTCT GTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCC GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GGTCTGTCCTGGGGGGGTCTGT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK10_chr2_224760090_225047468	225018569	A A	ATATATAT others(189): Show ATATATATATAATATATATGTAATATTATATATATAATATATATGTAATA TTATATATAATATATATGTAATATTATATATATAATATATATGTAATATT ATATATATAATATATATGTAATATTATATATATAATATATATGTAATATT ATATATATAATATATATGTAATATTATATATATAATATATGTAATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0062 a0002c0003t0001g0062	1	170	0.0059	196	c.123 others(215): Show c.123+23682_123+23683insATATTACATATATTATATATATAATA TTACATATATATTATATATATAATATTACATATATATTATATATATAATA TTACATATATATTATATATATAATATTACATATATATTATATATATAATA TTACATATATATTATATATAATATTACATATATATTATATATATAATATT ACATATATATTATATATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(189): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATAATATATATAATATATATAATATATATATAATATATATAATATAT ATATAATATATATATTATATATATTATATATATAATATATATATAATATA TATATAATATATATATAATATATATATTTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	51	0.0196	196	c.554 others(213): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATAATATATATAATATATATAATATATAT ATAATATATATAATATATATATAATATATATATTATATATATTATATATA TAATATATATATAATATATATATAATATATATATAATATATATATTTAAA AGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(189): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATAATATATATAATATAT ATATAATATATATATTATATATATTATATATATAATATATATATAATATA TATATAATATATATATAATATATATATTTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01993.hp1 others(1): Show HG00642.hp1 HG00733.hp2 HG01993.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0157 a0001c0001t0001g0167 others(1): Show a0001c0001t0001g0124 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0178	4	54	0.0741	196	c.554 others(213): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATAATATATATAATATATATATAATATATATATTATATATATTATATATA TAATATATATATAATATATATATAATATATATATAATATATATATTTAAA AGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(189): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATAATATATATATTATATATATTATATATATAATATATATATAATATA TATATAATATATATATAATATATATATTTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03017.hp1 HG01255.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0207 a0001c0001t0001g0159 a0001c0001t0001g0207	2	52	0.0385	196	c.554 others(213): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATAATATATATATTATATATATTATATATA TAATATATATATAATATATATATAATATATATATAATATATATATTTAAA AGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(189): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTATATATATTATATATATAATATATAATATATA TATATAATATATATATAATATATATATTTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	51	0.0196	196	c.554 others(213): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATATTATATATATTATATA TATAATATATAATATATATATATAATATATATATAATATATATATTTAAA AGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(189): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTATATATATTATATATATAATATATATATTATA TATATAATATATATATAATATATATATTTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	51	0.0196	196	c.554 others(213): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATATTATATATATTATATA TATAATATATATATTATATATATAATATATATATAATATATATATTTAAA AGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(189): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATATAAT ATATATAATATATATATTATATATATTATATATATAATATATATATAATA TATATATAATATATATATAATATATATATTTAAAAGTATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	51	0.0196	196	c.554 others(213): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATATAATATATATAATATATATATTATATATATTATATA TATAATATATATATAATATATATATAATATATATATAATATATATATTTA AAAGTATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
EBF3_chr10_129830233_129969274	129919957	A A	ACCCCGCT others(189): Show ACCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCG CCCCACTGTGCGGTCTAGGGCCAGTATCTCCAGGAGGGCCACAAACCCGC CCCGCTGTGCGGTCTAGGGCCAGTATCTCCAGGAGGGCCACAAACCCGCC CCGCTGTGCGGTCTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0267 a0001c0001t0007g0267	1	327	0.0031	196	c.554 others(215): Show c.554+37300_554+37301insCGGGTTTGTGGCCCTCCTGGAGATAC TCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCCTGGAGATACT GGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCCTGGAGATACTG GCCCTAGACCGCACAGTGGGGCGGGTTTGTGGCCCTCCTGGAGATACTCG CCCTAGACTGCACAGCGGGG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920067	G G	GGTCTAGG others(189): Show GGTCTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCG GTCTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGG TCTAGGGCCAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGT CTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp1 NA18522.hp1 HG02109.hp2 HG02895.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 a0001c0001t0001 a0001c0001t0004 a0001c0001t0023	a0001c0001t0001g0009 a0001c0001t0004g0274 a0001c0001t0023g0271 a0001c0001t0001g0009 a0001c0001t0004g0274 a0001c0001t0023g0271	3	320	0.0094	196	c.554 others(215): Show c.554+37190_554+37191insTGCACAGCGGGGCGGGTTTGTGGCCC TCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTTTGTGGCCCT CCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTC CTGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCC TGGAGATACTCGCCCTAGAC	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CTCCCTCC others(189): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTTTTCTTCCTCTCCCTCTT CTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCTCCCTTCCTTTTCTTCCCC CCCTCCCTGTTCTTTCCTTCCTCCCTCCCTCCCTCTTCTTCCTCCCCGTT CCTCCCTCCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	304	0.0033	196	c.423 others(211): Show c.423+486_423+487insTCCCTCCCCCCTTCCTTTTCTTCCTCCCCC TTTTCTTCCTCTCCCTCTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCC TCCCTTCCTTTTCTTCCCCCCCTCCCTGTTCTTTCCTTCCTCCCTCCCTC CCTCTTCTTCCTCCCCGTTCCTCCCTCCCTCCCCCCTTCCTTTTCTTCCT CCCTCCCTCCCCCCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
ERICH1_chr8_659200_736224	695691	T T	TGCTCGCT others(189): Show TGCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGC ACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCA CTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCAC TCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	376	0.0027	196	c.170 others(213): Show c.170-3080_170-3079insGCAGGCTGATGGGGAGGAAGGAGAGGAG TGGAGGGTGAGAGGAGCGAGTGCAGGCTGATGGGGAGGAAGGAGAGGAGT GGAGGGTGAGAGGAGCGAGTGCAGGCTGATGGGGAGGAAGGAGAGGAGTG GAGGGTGAGAGGAGCGAGTGCAGGCTGATGGGGAGGAAGGAGAGGAGTGG AGGGTGAGAGGAGCGAGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ESPNL_chr2_238095340_238138287	238098563	A A	AGGACCGC others(189): Show AGGACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGGACCGC CCACATAGGACCGCCCACATAGAACCGCCCACATGGGAACGCCCACATAG GACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCC ACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0100 a0005c0007t0008g0100	1	363	0.0028	196	c.-18 others(207): Show c.-1857_-1856insGGACCGCCCACATAGGACCGCCCACATGGGAACG CCCACATAGGACCGCCCACATAGGACCGCCCACATAGAACCGCCCACATG GGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCC CACATAGAACCGTCCACATAGGACCGCCCACATGGGACCGCCCACATAGA ACCGTCCACATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1776		chr2	TogoVar
EXD3_chr9_137301896_137428162	137328610	G G	GACTACGC others(189): Show GACTACGCGGGACTACGCGGGACTACGCGGGACTACACGGGACTACACGG GAGCTACACGGGAGCTACACGGGAGCTACGCGGGACTACGCGGGACTACG CGGGACTACGCGGGACTACACGGGACTACACGGGAGCTACACGGGACTAC GCGGGACTACGCGGGACTACGCGGGACTACGCGGGAGCTACGCGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0018 a0006c0005t0001g0018	1	79	0.0127	196	c.199 others(215): Show c.1999-4468_1999-4467insTCCCGCGTAGCTCCCGCGTAGTCCCG CGTAGTCCCGCGTAGTCCCGCGTAGTCCCGTGTAGCTCCCGTGTAGTCCC GTGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGCTCC CGTGTAGCTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGTCCCGCGTAGT CCCGCGTAGTCCCGCGTAGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM135B_chr8_138125023_138502261	138206716	T T	TCATCCCC others(189): Show TCATCCCCTCCACCTACCCACAGCTCTATCATCCCCTCCACCTACCCACA GCTCTATCATCCCATCCACCTACACACAATTCTATCATCCCCTCCACCTA CACACAACTCCAGCATCCCCTCCACCTACACACAGCTCTATCATCCCCTC CACCTACCCACGGCTCTATCATCCCCTCCACCTACACACAACTCCAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0033 a0003c0021t0033	a0003c0021t0033g0143 a0003c0021t0033g0143	1	210	0.0048	196	c.670 others(213): Show c.670-9048_670-9047insCTGGAGTTGTGTGTAGGTGGAGGGGATG ATAGAGCCGTGGGTAGGTGGAGGGGATGATAGAGCTGTGTGTAGGTGGAG GGGATGCTGGAGTTGTGTGTAGGTGGAGGGGATGATAGAATTGTGTGTAG GTGGATGGGATGATAGAGCTGTGGGTAGGTGGAGGGGATGATAGAGCTGT GGGTAGGTGGAGGGGATG	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FER1L5_chr2_96637764_96709883	96659358	C C	CTTTCTTT others(189): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0168 a0001c0004t0001g0168	1	169	0.0059	196	c.748 others(211): Show c.748-981_748-980insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L5_chr2_96637764_96709883	96659382	T T	TTTCTTTC others(189): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTT TCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0162 a0002c0001t0001g0162	1	197	0.0051	196	c.748 others(211): Show c.748-910_748-909insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L6_chr8_123846987_124125061	124009943	A A	ACTGCAGA others(189): Show ACTGCAGACCCAGGGAGGAGCAATGTTGTTGTAGTTCAAGGGTCTGCAAA CCGGTGACCCCGGGAGGAGAGGTCTTGTCCTAGTTTGAGGGTCGTGGAGC TGCAGACCCCGGGAGGAGCAATATTGTTGTAGTTCTAGGGTTAGGAAGCT GGCAACTCAGGGAAGAGAGCTCTTGTTCTAGTTTGAGGGTCATGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG02071.hp1 others(20): Show HG00738.hp1 HG01070.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03654.hp2 NA18951.hp1 NA18970.hp2 NA19002.hp2 NA19062.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0014 a0015 a0019 a0020	a0001c0004 a0001c0005 a0001c0008 others(12): Show a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0014 a0001c0015 a0001c0046 a0002c0003 a0002c0010 a0002c0012 a0005c0021 a0014c0044 a0015c0057 a0019c0032 a0020c0031	a0001c0004t0001 a0001c0005t0002 a0001c0008t0002 others(16): Show a0001c0004t0001 a0001c0005t0002 a0001c0008t0002 a0001c0009t0001 a0001c0014t0005 a0001c0015t0001 a0001c0015t0002 a0001c0046t0001 a0002c0003t0001 a0002c0003t0004 a0002c0010t0004 a0002c0012t0001 a0002c0012t0002 a0002c0012t0005 a0005c0021t0004 a0014c0044t0004 a0015c0057t0011 a0019c0032t0001 a0020c0031t0004	a0001c0004t0001g0002 a0001c0005t0002g0001 a0001c0008t0002g0070 others(20): Show a0001c0004t0001g0002 a0001c0005t0002g0001 a0001c0008t0002g0070 a0001c0009t0001g0103 a0001c0014t0005g0094 a0001c0015t0001g0172 a0001c0015t0002g0052 a0001c0046t0001g0139 a0002c0003t0001g0106 a0002c0003t0001g0110 a0002c0003t0001g0115 a0002c0003t0001g0193 a0002c0003t0004g0071 a0002c0010t0004g0100 a0002c0012t0001g0091 a0002c0012t0002g0060 a0002c0012t0005g0025 a0005c0021t0004g0098 a0005c0021t0004g0099 a0014c0044t0004g0083 a0015c0057t0011g0038 a0019c0032t0001g0148 a0020c0031t0004g0074	23	194	0.1186	196	c.170 others(213): Show c.1701-623_1701-622insTGTAGTTCAAGGGTCTGCAAACCGGTGA CCCCGGGAGGAGAGGTCTTGTCCTAGTTTGAGGGTCGTGGAGCTGCAGAC CCCGGGAGGAGCAATATTGTTGTAGTTCTAGGGTTAGGAAGCTGGCAACT CAGGGAAGAGAGCTCTTGTTCTAGTTTGAGGGTCATGGAGCTGCAGACCC AGGGAGGAGCAATGTTGT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	13/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(189): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCC TCCCTCCCTTCCCTCCCCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0087 a0004c0087	a0004c0087t0046 a0004c0087t0046	a0004c0087t0046g0121 a0004c0087t0046g0121	1	121	0.0083	196	c.426 others(213): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTG CCCCACCTCCCTCCCTCCCTTCCCTCCCCAGGCCCTGCCCCACCTCCCTC CCTCCATTCCCTCCCCAG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(189): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCCTCCCTC CTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCC TCCCTCCCTTCCCTCCTCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02922.hp2 NA18906.hp1 HG01167.hp1 HG02922.hp2 NA18906.hp1	a0032 a0046 a0059 a0032 a0046 a0059	a0032c0114 a0046c0089 a0059c0065 a0032c0114 a0046c0089 a0059c0065	a0032c0114t0056 a0046c0089t0050 a0059c0065t0043 a0032c0114t0056 a0046c0089t0050 a0059c0065t0043	a0032c0114t0056g0200 a0046c0089t0050g0105 a0059c0065t0043g0005 a0032c0114t0056g0200 a0046c0089t0050g0105 a0059c0065t0043g0005	3	123	0.0244	196	c.426 others(213): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCCTCCCTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTG CCCCACCTCCCTCCCTCCCTTCCCTCCTCAGGCCCTGCCCCACCTCCCTC CCTCCATTCCCTCCCCAG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FHIT_chr3_59742277_61256452	60860765	C C	CGTATCAT others(189): Show CGTATCATATATGATATATATGATACGTATCATATATGATATATATGATA CGTATCATATATGATATATATGATACGTATCATATATGATATATATGATA CGTATCATATATGATATATATGATACGTATCATATATGATATATATGATA CGTATCATATATGATATATATGATACGTATCATATATGATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0044 a0001c0002t0005g0044	1	46	0.0217	196	c.-11 others(217): Show c.-110-38755_-110-38754insCATATATATCATATATGATACGTA TCATATATATCATATATGATACGTATCATATATATCATATATGATACGTA TCATATATATCATATATGATACGTATCATATATATCATATATGATACGTA TCATATATATCATATATGATACGTATCATATATATCATATATGATACGTA TCATATATATCATATATGATAC	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435859	G G	GGAAGGGA others(189): Show GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0084 a0001c0001t0066 a0001c0001t0084	a0001c0001t0066g0022 a0001c0001t0084g0065 a0001c0001t0066g0022 a0001c0001t0084g0065	2	85	0.0235	196	c.-16 others(217): Show c.-168+57566_-168+57567insTTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GABRG3_chr15_26966181_27546984	27307363	C C	CCATAGGT others(189): Show CCATAGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTTTAT ATATAACCATAGGTTTATATATGTTTATATATAACCATAGGTTTATATAT GTTTATATATAACCATAGGTTTATATATGTTTATATATAACCATAGGTTT ATATATGTTTATATATAAACATAGGTTTATATATGTTTATATATAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	44	0.0227	196	c.271 others(215): Show c.271-19442_271-19441insGGTTTATATATGTTTATATATAACCA TAGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTTTATATA TAACCATAGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTT TATATATAACCATAGGTTTATATATGTTTATATATAAACATAGGTTTATA TATGTTTATATATAAACATA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292369	T T	TATATATA others(189): Show TATATATATATATATATATATCAGATATATATCGTATCTCTGATATATAT ATCAGATATATATCGTATCTCTGATATATATATCAGATATATATCGTATC TCTGATATATATATCAGATATATATCGTATCTCTGATATATATATCAGAT ATATATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0187 a0001c0013t0006g0187	1	349	0.0029	196	c.220 others(213): Show c.220+7389_220+7390insCAGAGATACGATATATATCTGATATATA TATCAGAGATACGATATATATCTGATATATATATCAGAGATACGATATAT ATCTGATATATATATCAGAGATACGATATATATCTGATATATATATCAGA GATACGATATATATCTGATATATATATCAGAGATACGATATATATCTGAT ATATATATATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241806087	C C	CCCCTCAA others(189): Show CCCCTCAACCCAGGAACCTCCGCAGCCACCCTCCCTCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	306	0.0033	196	c.19 others(207): Show c.1921_*1922insCCCTCAACCCAGGAACCTCCGCAGCCACCCTCCC TCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACC CAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCTCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1801		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806758	A A	ACCCTCCC others(189): Show ACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0036	1	192	0.0052	196	c.25 others(207): Show c.2592_*2593insCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCT GCAGGCCACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2472		chr2	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(189): Show GGGGGAGGAGGAGGGGGGAGTGGGGGGGGAGGAGGAGGGGGGGAGTGGGG GGGAGGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGTAGGAGGAGGAA GATGGGGAGGAGGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGA GGAAGATGGGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	4	0.2500	196	c.590 others(213): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTACTCCCCATCTTCCTCCTCC TCTTTCTTCTCCTCCTCCCCCCCACTCCCCCCCTCCTCCTCCCCCCCCAC TCCCCCCTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GLB1L3_chr11_134271379_134324564	134308489	T T	TGTCCACC others(189): Show TGTCCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCCAC CACCACTACCACCACCATCACCATCACCATCACCATCATCACCATCACCA CTACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATC ATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	204	0.0049	196	c.962 others(213): Show c.962-1137_962-1136insGTCCACCACCACCACCACCACCAAATAC CACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCA TCACCATCATCACCATCACCACTACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCAC	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19			chr11	TogoVar
GMDS_chr6_1618806_2250605	1652606	A A	ATATATAT others(189): Show ATATATATTATTTATATATAATATATATATTATATATAATATATATTATT TATATATAATATATTATATATAATATATATTTATATATAATATATTATAT ATAATATATATTATTTATATATAATATATTATATATAATATATATTATTT ATATATAATATATTATATATAATATATATTATTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	90	0.0111	196	c.988 others(215): Show c.988-28067_988-28066insATATATTATATATAAATAATATATAT TATATATAATATATTATATATAAATAATATATATTATATATAATATATTA TATATAAATAATATATATTATATATAATATATTATATATAAATATATATT ATATATAATATATTATATATAAATAATATATATTATATATAATATATATA TTATATATAAATAATATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GOLM1_chr9_86021146_86104558	86053686	A A	ACACACCA others(189): Show ACACACCACACACCATTCCAAACCATGCTACACACCACACACTACCACAC CACACACTCCACACCAGAACACACACCATGCCACACCACTCCACACAACA CGCCACACACCATTCCACACCAAACCACACCCCACACACTCCACACCACA CACAACCACTCCATACCAAACCACACACCATACCACACTCCACACTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp1 others(31): Show HG00099.hp2 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01993.hp2 HG02698.hp2 HG02735.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03927.hp2 HG04115.hp2 NA18973.hp2 NA19043.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0004t0002 a0002c0006t0002	a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0189 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0297 a0001c0001t0001g0305 a0001c0001t0002g0108 a0001c0001t0021g0145 a0001c0004t0002g0078 a0001c0004t0002g0137 a0002c0006t0002g0001	34	311	0.1093	196	c.310 others(213): Show c.310-1096_310-1095insGAGTGTGGAGTGTGGTATGGTGTGTGGT TTGGTATGGAGTGGTTGTGTGTGGTGTGGAGTGTGTGGGGTGTGGTTTGG TGTGGAATGGTGTGTGGCGTGTTGTGTGGAGTGGTGTGGCATGGTGTGTG TTCTGGTGTGGAGTGTGTGGTGTGGTAGTGTGTGGTGTGTAGCATGGTTT GGAATGGTGTGTGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GPC5_chr13_91393621_92872237	91571886	C C	CGTGTGTG others(189): Show CGTGTGTGTGTGTATACACACATATACGTGTGTGTGTATACACACATATA CGTGTGTGTGTATACACACATATACGTGTGTGTGTATACACACATATACG TGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACATATA CGTGTGTGTATACACACATATACGTGTGTGTATACACACATATACGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	18	0.0556	196	c.326 others(217): Show c.326-121295_326-121294insGTGTGTATACACACATATACGTGT GTGTGTATACACACATATACGTGTGTGTGTATACACACATATACGTGTGT GTGTATACACACATATACGTGTGTGTGTGTATACACACATATACGTGTGT GTGTGTATACACACATATACGTGTGTGTATACACACATATACGTGTGTGT ATACACACATATACGTGTGTGT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66683359	T T	TATGTTCA others(189): Show TATGTTCATATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATGTATGTTCATATATATATGTACATATATATGTTCATATATGTA TGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATATA TATATGTACATATATATGTTCATATATATATGTTCATATATATGTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	228	0.0044	196	c.143 others(213): Show c.143+2176_143+2177insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar

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