Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
COL18A1_chr21_45400165_45518720	45499444	CGTGTGGG others(54): Show CGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTC CCTCAGGAACCT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02572.hp1 HG02622.hp1 others(4): Show HG01978.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG03209.hp2 HG03471.hp2 NA18906.hp2	a0001 a0020 a0001 a0020	a0001c0008 a0001c0022 a0001c0038 others(1): Show a0001c0008 a0001c0022 a0001c0038 a0020c0094	a0001c0008t0002 a0001c0022t0001 a0001c0038t0004 others(1): Show a0001c0008t0002 a0001c0022t0001 a0001c0038t0004 a0020c0094t0011	a0001c0008t0002g0272 a0001c0022t0001g0008 a0001c0022t0001g0021 others(4): Show a0001c0008t0002g0272 a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0038t0004g0028 a0001c0038t0004g0029 a0020c0094t0011g0075	7	292	0.0240	-61	c.268 others(80): Show c.2683+1837_2683+1897delAGGAACCTGTGTGGGCTGCCCCGCAT GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL2A1_chr12_47967967_48009476	47971793	TTATATTG others(54): Show TTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATAT ATGTATATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0229 a0001c0027t0001g0229	1	414	0.0024	-61	c.15 others(72): Show c.1553_*1613delTAATATATACATATATTATTATACAATATAATAA TATATACATATATTATTATACAATATA	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1173		chr12	TogoVar
COL4A2_chr13_110302284_110518209	110481711	CATTGCTG others(54): Show CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGT TCTGTCCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0093 a0001c0015t0003g0093	1	372	0.0027	-61	c.275 others(78): Show c.2759-804_2759-744delATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACAGTTCTGTCCCTCCA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45988046	CGGGGTCC others(54): Show CGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGG GCTCCAGATGGA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0017	1	128	0.0078	-61	c.804 others(76): Show c.804+397_804+457delTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGTCGGGGCTCCAGATGGAGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46111728	GGGGGCCG others(54): Show GGGGGCCGGGGGCTCTGGGCATTTGGGGGGCAGTTGGGACCAGTACCCAG GTGCCAGGGGTC	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0162 a0005c0015t0001g0162	1	372	0.0027	-61	c.115 others(76): Show c.115+142_116-186delCCGGGGGCTCTGGGCATTTGGGGGGCAGTT GGGACCAGTACCCAGGTGCCAGGGGTCGGGG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46111728	GGGGGCCG others(54): Show GGGGGCCGGGGGCTCTGGGCATTTGGGGGGCAGTTGGGACCAGTACCCAG GTGCCAGGGGTC	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0012 a0012	a0012c0052 a0012c0052	a0012c0052t0001 a0012c0052t0001	a0012c0052t0001g0160 a0012c0052t0001g0160	1	364	0.0028	-61	c.115 others(76): Show c.115+142_116-186delCCGGGGGCTCTGGGCATTTGGGGGGCAGTT GGGACCAGTACCCAGGTGCCAGGGGTCGGGG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL9A3_chr20_62812050_62846159	62813338	GCCGAGAG others(54): Show GCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAG GGATGAGCCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0003 a0017c0043t0003	a0017c0043t0003g0357 a0017c0043t0003g0357	1	412	0.0024	-61	c.-37 others(72): Show c.-3726_-3666delCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCC GGCAGGACCTACAAGGGATGAGCCAGC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3711		chr20	TogoVar
CPLX1_chr4_779957_831129	826392	GTGGACCC others(54): Show GTGGACCCGGGGCGGGGGCGGGGGTGGACCCGGGGGCGGGGGCGGGGGGC GGGGGCGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0093	1	416	0.0024	-61	c.-48 others(70): Show c.-487_-427delGCCCCCGCCCCCGCCCCCCGCCCCCGCCCCCGGGTC CACCCCCGCCCCCGCCCCGGGTCCA	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		264		chr4	TogoVar
CPSF1_chr8_144388231_144414335	144413100	CCCCACCT others(54): Show CCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATC TTCCAGGCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	350	0.0029	-61	c.-38 others(72): Show c.-3887_-3827delCGGGGCCTGGAAGATGGGCGGGGCCGCACCTGGC TGGGTGGGGAGACCGGAAACAGGTGGG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding		3766		chr8	TogoVar
CPSF1_chr8_144388231_144414335	144413113	CGGTCTCC others(54): Show CGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGC CCACCTGTTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02015.hp1 HG02145.hp1 others(1): Show HG00673.hp1 HG02015.hp1 HG02145.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0002t0001g0053 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0002t0001g0053 a0001c0002t0001g0054	4	350	0.0114	-61	c.-39 others(72): Show c.-3900_-3840delTGGAACAGGTGGGCGGGGCCTGGAAGATGGGCGG GGCCGCACCTGGCTGGGTGGGGAGACC	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding		3779		chr8	TogoVar
CRACDL_chr2_98788846_98941225	98899767	GTGGACAG others(54): Show GTGGACAGAGGCTCAGCAGGAGGGGAGGCAGGGAATGGAGGCTCAGTGGG AGGGGAGGCAGA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	316	0.0032	-61	c.-11 others(80): Show c.-11+36110_-11+36170delTCTGCCTCCCCTCCCACTGAGCCTCC ATTCCCTGCCTCCCCTCCTGCTGAGCCTCTGTCCA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRACD_chr4_56044098_56335609	56079272	TATATGTA others(54): Show TATATGTAAAGATGTCTCCTTTCTGATTTTATTTCTGGAAGGAAGATTTC AAAAAAATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02258.hp1 HG02280.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0018 a0001c0001 a0007c0018	a0001c0001t0029 a0007c0018t0003 a0001c0001t0029 a0007c0018t0003	a0001c0001t0029g0098 a0007c0018t0003g0097 a0001c0001t0029g0098 a0007c0018t0003g0097	2	250	0.0080	-61	c.-33 others(82): Show c.-336+29976_-336+30036delATGTAAAGATGTCTCCTTTCTGAT TTTATTTCTGGAAGGAAGATTTCAAAAAAATTTTAAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CROCC2_chr2_240901336_240998311	240985557	GCACTCAC others(54): Show GCACTCACTGCACACACCCAGCACACACACCCAGGCACTCACTCCACACA CACCCAGACACT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01891.hp2 HG01169.hp1 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0021 a0001c0001 a0002c0021	a0001c0001t0001 a0002c0021t0006 a0001c0001t0001 a0002c0021t0006	a0001c0001t0001g0128 a0002c0021t0006g0072 a0001c0001t0001g0128 a0002c0021t0006g0072	2	350	0.0057	-61	c.455 others(80): Show c.4551+2534_4551+2594delACTGCACACACCCAGCACACACACCC AGGCACTCACTCCACACACACCCAGACACTCACTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985646	CCACACAC others(54): Show CCACACACACCCAGCACACACACCCAGGCACTCACTCCACACACACCCAG GCACTCACTCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18944.hp2 HG00099.hp2 NA18944.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0045 a0003c0003t0001g0019 a0003c0003t0001g0045	2	350	0.0057	-61	c.455 others(80): Show c.4551+2627_4551+2687delCCAGCACACACACCCAGGCACTCACT CCACACACACCCAGGCACTCACTCCACACACACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRX_chr19_47816937_47848324	47818306	CCATCACC others(54): Show CCATCACCCATCCATCCATCCATCCATCCATCCATCATCCATCCATCCAT CCATCCATCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02258.hp2 HG02280.hp1 others(12): Show HG00642.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0002c0002t0009	a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 others(12): Show a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0008g0226 a0001c0001t0009g0206 a0001c0001t0020g0304 a0001c0001t0020g0305 a0002c0002t0009g0223	15	344	0.0436	-61	c.-37 others(72): Show c.-3739_-3679delCATCACCCATCCATCCATCCATCCATCCATCCAT CATCCATCCATCCATCCATCCATCCAT	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		3630		chr19	TogoVar
CSMD1_chr8_2930361_4999914	3795904	TCATGTAC others(54): Show TCATGTACAGATATAGATATCTATCATGTACAGATATAGATATCTATCAT GTACAGATATAG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18983.hp1 NA18522.hp1 NA18983.hp1	a0001 a0027 a0001 a0027	a0001c0061 a0027c0023 a0001c0061 a0027c0023	a0001c0061t0001 a0027c0023t0001 a0001c0061t0001 a0027c0023t0001	a0001c0061t0001g0021 a0027c0023t0001g0052 a0001c0061t0001g0021 a0027c0023t0001g0052	2	126	0.0159	-61	c.819 others(80): Show c.819-41923_819-41863delCTATATCTGTACATGATAGATATCTA TATCTGTACATGATAGATATCTATATCTGTACATG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967699	CACCACCC others(54): Show CACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCCTCCCC AGGCTGCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00738.hp2 others(26): Show HG00438.hp1 HG00639.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01257.hp2 HG01975.hp2 HG02080.hp1 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA19009.hp2 NA19010.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0002t0002	a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0119 others(26): Show a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0335 a0001c0001t0001g0345 a0001c0001t0002g0330 a0001c0001t0005g0020 a0001c0001t0005g0242 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0012g0245 a0001c0001t0014g0104 a0001c0001t0017g0151 a0001c0001t0021g0107 a0001c0002t0002g0198 a0001c0002t0002g0333 a0001c0002t0002g0349	29	382	0.0759	-61	c.-26 others(80): Show c.-265-1714_-265-1654delTTCCTCCCTCCTCCCCAGGCTGCCCC CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1967803	CCTCCCCA others(54): Show CCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCT CCCTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG04199.hp1 NA18952.hp1 others(1): Show HG00673.hp1 HG04199.hp1 NA18952.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0132 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0132 a0001c0001t0001g0137	4	382	0.0105	-61	c.-26 others(80): Show c.-265-1584_-265-1524delTTCTCCCCAGGCTGCCCCCGACCACC CTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1968046	GCCCCCAC others(54): Show GCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCC TCCCCAGGCTGC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0156 a0002c0003t0003g0156	1	382	0.0026	-61	c.-26 others(80): Show c.-265-1457_-265-1397delCACCACCCTTCAGTTCTGCAGGTGGG GCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CUL2_chr10_35003551_35095341	35017338	AATGTTTA others(54): Show AATGTTTAATCTGAATGTTTTCATAAAAATGAAAAACATTTAATCTGAAT GTTTTCATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0239 a0001c0001t0012g0239	1	300	0.0033	-61	c.168 others(79): Show c.1685-1005_1685-945delATTTATGAAAACATTCAGATTAAATGT TTTTCATTTTTATGAAAACATTCAGATTAAACAT	CUL2	ENSG00000108094.17	transcript	ENST00000374749.8	protein_coding	17/20			chr10	TogoVar
CYFIP1_chr15_22862052_22985368	22890630	AGAACAGA others(54): Show AGAACAGAGACAGGGTGGAGGGGCACAGCGGAGGCCGCACCTGCCAACAG CCTCGAGAACAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp2 HG01496.hp2 others(16): Show HG00621.hp2 HG01109.hp2 HG01496.hp2 HG02040.hp1 HG02040.hp2 HG02280.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp2 NA18944.hp1 NA18957.hp2 NA18974.hp2 NA19043.hp2 NA19057.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0020 a0002c0003 a0002c0004 a0002c0009 a0002c0010 a0013c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0010 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0010 a0001c0002t0025 a0001c0002t0041 a0001c0005t0001 a0001c0007t0008 a0001c0007t0010 a0001c0020t0022 a0002c0003t0007 a0002c0003t0010 a0002c0004t0031 a0002c0009t0040 a0002c0010t0021 a0013c0021t0001	a0001c0001t0001g0249 a0001c0002t0001g0317 a0001c0002t0001g0318 others(16): Show a0001c0001t0001g0249 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0010g0299 a0001c0002t0025g0118 a0001c0002t0041g0205 a0001c0005t0001g0328 a0001c0007t0008g0002 a0001c0007t0010g0101 a0001c0007t0010g0111 a0001c0020t0022g0086 a0002c0003t0007g0027 a0002c0003t0010g0106 a0002c0003t0010g0164 a0002c0003t0010g0165 a0002c0004t0031g0052 a0002c0009t0040g0310 a0002c0010t0021g0159 a0013c0021t0001g0179	19	342	0.0556	-61	c.267 others(80): Show c.2676+2199_2676+2259delGTGTTCTCGAGGCTGTTGGCAGGTGC GGCCTCCGCTGTGCCCCTCCACCCTGTCTCTGTTC	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	23/30			chr15	TogoVar
DCC_chr18_52335197_53540899	53404380	AAGCTTAA others(54): Show AAGCTTAATTTTGCTTCTTCAGGAAAAAAAAAAAAATAGAAGTCTAGCCC ATATTAAGAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00642.hp1 others(19): Show HG00280.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01106.hp2 HG01993.hp1 HG02080.hp1 HG02280.hp1 HG02572.hp1 HG02602.hp2 HG03017.hp1 HG03471.hp2 HG04199.hp1 HG04228.hp1 NA18948.hp2 NA18966.hp1 NA18971.hp2 NA18979.hp1 NA19030.hp2 NA19065.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0002c0020 others(1): Show a0001c0002 a0002c0001 a0002c0020 a0004c0009	a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 others(8): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 a0002c0001t0001 a0002c0001t0002 a0002c0001t0015 a0002c0001t0018 a0002c0001t0029 a0002c0020t0007 a0004c0009t0002 a0004c0009t0027	a0001c0002t0002g0005 a0001c0002t0009g0049 a0001c0002t0014g0051 others(19): Show a0001c0002t0002g0005 a0001c0002t0009g0049 a0001c0002t0014g0051 a0002c0001t0001g0053 a0002c0001t0001g0080 a0002c0001t0002g0017 a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0027 a0002c0001t0002g0055 a0002c0001t0002g0063 a0002c0001t0002g0070 a0002c0001t0002g0081 a0002c0001t0002g0089 a0002c0001t0002g0107 a0002c0001t0015g0064 a0002c0001t0015g0069 a0002c0001t0018g0034 a0002c0001t0029g0040 a0002c0020t0007g0113 a0004c0009t0002g0016 a0004c0009t0027g0084	22	114	0.1930	-61	c.293 others(80): Show c.2935+1488_2935+1548delAGCTTAATTTTGCTTCTTCAGGAAAA AAAAAAAAATAGAAGTCTAGCCCATATTAAGAAAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	19/28			chr18	TogoVar
DDX11_chr12_31068860_31109799	31097161	TGGGAGGA others(54): Show TGGGAGGAGATCGAAGGGCTGGGATGGGGGTCCCGTGACCAGGGTAAGCA GTGGAGGTGGAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp2 HG02055.hp1 others(6): Show HG01192.hp1 HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02622.hp2 HG03130.hp2 HG04115.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0014 a0001c0004t0001 a0001c0004t0014	a0001c0004t0001g0284 a0001c0004t0001g0286 a0001c0004t0001g0288 others(6): Show a0001c0004t0001g0284 a0001c0004t0001g0286 a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0004t0001g0294 a0001c0004t0001g0308 a0001c0004t0001g0309 a0001c0004t0014g0049 a0001c0004t0014g0050	9	418	0.0215	-61	c.176 others(78): Show c.1762+185_1762+245delAGGGCTGGGATGGGGGTCCCGTGACCAG GGTAAGCAGTGGAGGTGGACGGGAGGAGATCGA	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
DGKG_chr3_186142201_186367234	186294671	TATGCCTG others(54): Show TATGCCTGAATATGCCTCCTCTAGTCCATAGAAGATATAAGAGTTATCTG TGCCTTACACAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02451.hp2 others(10): Show HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp2 HG03471.hp1 NA19030.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0001c0003 a0001c0010 others(4): Show a0001c0002 a0001c0003 a0001c0010 a0002c0001 a0002c0005 a0005c0011 a0007c0016	a0001c0002t0011 a0001c0003t0003 a0001c0003t0007 others(9): Show a0001c0002t0011 a0001c0003t0003 a0001c0003t0007 a0001c0003t0011 a0001c0003t0042 a0001c0010t0030 a0002c0001t0003 a0002c0001t0022 a0002c0001t0039 a0002c0005t0019 a0005c0011t0003 a0007c0016t0003	a0001c0002t0011g0204 a0001c0003t0003g0162 a0001c0003t0007g0089 others(10): Show a0001c0002t0011g0204 a0001c0003t0003g0162 a0001c0003t0007g0089 a0001c0003t0011g0223 a0001c0003t0042g0221 a0001c0010t0030g0149 a0002c0001t0003g0226 a0002c0001t0022g0197 a0002c0001t0039g0203 a0002c0005t0019g0138 a0005c0011t0003g0177 a0005c0011t0003g0178 a0007c0016t0003g0181	13	234	0.0556	-61	c.373 others(78): Show c.373+2689_373+2749delCTGTGTAAGGCACAGATAACTCTTATAT CTTCTATGGACTAGAGGAGGCATATTCAGGCAT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	5/24			chr3	TogoVar
DHRS12_chr13_51762993_51809163	51775195	CCTACATG others(54): Show CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACAGTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(47): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01257.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp2 HG02074.hp2 HG02258.hp2 HG02683.hp2 HG02698.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18939.hp2 NA18952.hp1 NA18964.hp1 NA18965.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA18997.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19012.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19086.hp2 NA20129.hp2 NA20752.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0009 a0001c0001 a0003c0003 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0006c0009t0002	a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0138 others(40): Show a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0002g0020 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0230 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0003c0003t0002g0201 a0003c0003t0002g0248 a0006c0009t0002g0311	50	420	0.1191	-61	c.364 others(78): Show c.364-1222_364-1162delTAGAATACTGTAGGAGAATACTGTAGAA TACATGTAGGAGAATACTGTAGAATACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775420	CCTACAGT others(54): Show CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCT CCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01975.hp2 HG03704.hp1 others(4): Show HG01515.hp2 HG01975.hp2 HG03704.hp1 HG04204.hp1 NA18950.hp2 NA19062.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0102 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0250 a0001c0001t0002g0261 a0003c0003t0001g0223	7	420	0.0167	-61	c.364 others(78): Show c.364-1447_364-1387delAATACATGTAGGAGAATACTGTAGGAGA ATACTGTAGAATACATGTAGGAGAATACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2B_chr12_50499985_50753657	50579629	AAAAAAAA others(54): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0212 a0001c0002t0004g0212	1	284	0.0035	-61	c.101 others(80): Show c.101-46345_101-46285delAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579633	AAAAAAAA others(54): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0183 a0001c0002t0004g0183	1	284	0.0035	-61	c.101 others(80): Show c.101-46341_101-46281delAAAAAAAAAAATATATATATATATAT ATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	1014355	GTGACCAG others(54): Show GTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCATTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	-61	c.73+ others(80): Show c.73+106405_73+106465delCCTCCACTGTGTGAGACCAGGACAGA CGATGCCTCCATTGTGTGTATGACCAGGACAGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1254980	TGCTGTGT others(54): Show TGCTGTGTGTGTGTCCTCTCATCCTGCTTGGGCGCTGTGTGTGTGTCTTC TCCTGCCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02258.hp2 HG03486.hp2 HG02071.hp2 HG02258.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0012 a0001c0003 a0001c0009 a0001c0012	a0001c0003t0006 a0001c0009t0012 a0001c0012t0004 a0001c0003t0006 a0001c0009t0012 a0001c0012t0004	a0001c0003t0006g0033 a0001c0009t0012g0006 a0001c0012t0004g0036 a0001c0003t0006g0033 a0001c0009t0012g0006 a0001c0012t0004g0036	3	40	0.0750	-61	c.74- others(76): Show c.74-3844_74-3784delTTGGGCGCTGTGTGTGTGTCTTCTCCTGCC CAGCCGCTGTGTGTGTGTCCTCTCATCCTGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642028	CGACCCTG others(54): Show CGACCCTGCCGGCCCCCACCTGTGTCACCCTCGACCCCGCCGGCCCTCAC CTGTGTCACCCT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	-61	c.181 others(80): Show c.1810+8983_1810+9043delGACCCTGCCGGCCCCCACCTGTGTCA CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642551	CCCTCGAC others(54): Show CCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCC TCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	40	0.0250	-61	c.181 others(80): Show c.1810+9508_1810+9568delTCGACCCCGCCGGTCCTCACCTGTGT CACCCTCGACCCCCCCGGTCCTCACCTGTGTCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643947	CCCTCGAC others(54): Show CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCC TCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02895.hp1 others(1): Show HG02258.hp1 HG02258.hp2 HG02895.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0006 a0002c0001t0005 a0001c0003t0001 a0001c0003t0006 a0002c0001t0005	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 others(1): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0002c0001t0005g0028	4	40	0.1000	-61	c.181 others(82): Show c.1810+10904_1810+10964delTCGACCCCGCCGGCCCTCACCTGT GTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78540939	GTGGGTGG others(54): Show GTGGGTGGATCGGTGGATGAGTGGATGGGTGGATGGGTGGGTGGCGTGGG TGGGTGAGCGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0136 a0136	a0136c0193 a0136c0193	a0136c0193t0008 a0136c0193t0008	a0136c0193t0008g0108 a0136c0193t0008g0108	1	252	0.0040	-61	c.253 others(80): Show c.2533-1120_2533-1060delTCCGCTCACCCACCCACGCCACCCAC CCATCCACCCATCCACTCATCCACCGATCCACCCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH8_chr6_38710311_39035792	38874137	TTCTCTTT others(54): Show TTCTCTTTCTCCTTCCTTCCTTCCTCCTTCTCTCTTTCTTTCTTTCTCTC TCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03831.hp1 HG01943.hp1 HG03831.hp1	a0003 a0013 a0003 a0013	a0003c0002 a0013c0014 a0003c0002 a0013c0014	a0003c0002t0001 a0013c0014t0001 a0003c0002t0001 a0013c0014t0001	a0003c0002t0001g0036 a0013c0014t0001g0193 a0003c0002t0001g0036 a0013c0014t0001g0193	2	284	0.0070	-61	c.762 others(78): Show c.7620+771_7620+831delCCTTCCTTCCTTCCTCCTTCTCTCTTTC TTTCTTTCTCTCTCTCTTTCTTTCTCTCTTTCT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	52/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAJC2_chr7_103307289_103349767	103333052	AAATCTGA others(54): Show AAATCTGAAAAGCCAAAATCCTCCAGTGAACATTTCCTTTGAAGTGTCAT GCTGGCACTCAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0129 a0005c0006t0001g0129	1	406	0.0025	-61	c.331 others(78): Show c.331+4623_331+4683delCTGAGTGCCAGCATGACACTTCAAAGGA AATGTTCACTGGAGGATTTTGGCTTTTCAGATT	DNAJC2	ENSG00000105821.15	transcript	ENST00000379263.8	protein_coding	3/16			chr7	TogoVar
DNAJC5_chr20_63890126_63941011	63940912	AGACCCAC others(54): Show AGACCCACCCTCCACCTCGCGGGCTACGGGCTACGAACCTGAAAGGGCAG GAAGGAGAGCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0080 a0001c0001t0055g0080	1	372	0.0027	-61	c.93 others(72): Show c.9345_*9405delGACCCACCCTCCACCTCGCGGGCTACGGGCTACG AACCTGAAAGGGCAGGAAGGAGAGCGC	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding		4902		chr20	TogoVar
DNAL1_chr14_73639986_73708732	73704231	CGCTTTTC others(54): Show CGCTTTTCTGGGGAAGGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTC TATCCCTTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	340	0.0029	-61	c.82 others(72): Show c.8290_*8350delGCTTTTCTGGGGAAGGGGCAAGTACCCCAACCCC TTCTCTCCTTGTCTCTATCCCTTCTCT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding		500		chr14	TogoVar
DOCK2_chr5_169632275_170088382	169866011	GGCAGGGC others(54): Show GGCAGGGCTGAAGAGTCAGAGGGGCGAGGGGGCCTGTTTTATAGCAAGAC TGATGGGTTGTT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02647.hp1 HG02896.hp2 others(5): Show HG01981.hp2 HG02647.hp1 HG02896.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp2 NA19240.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0003 a0001c0006 a0001c0008 others(5): Show a0001c0003 a0001c0006 a0001c0008 a0001c0017 a0001c0039 a0001c0040 a0003c0050 a0010c0085	a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 others(5): Show a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0017t0002 a0001c0039t0005 a0001c0040t0001 a0003c0050t0002 a0010c0085t0002	a0001c0003t0001g0129 a0001c0006t0001g0180 a0001c0008t0001g0065 others(5): Show a0001c0003t0001g0129 a0001c0006t0001g0180 a0001c0008t0001g0065 a0001c0017t0002g0059 a0001c0039t0005g0178 a0001c0040t0001g0150 a0003c0050t0002g0174 a0010c0085t0002g0132	8	184	0.0435	-61	c.279 others(82): Show c.2799+25216_2799+25276delTTGTTGCAGGGCTGAAGAGTCAGA GGGGCGAGGGGGCCTGTTTTATAGCAAGACTGATGGG	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	27/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK8_chr9_209865_470255	320212	TGACCGAA others(54): Show TGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTG GGCTCAAAACCG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01099.hp1 others(37): Show HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp2 HG02145.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03490.hp2 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(20): Show a0001 a0002 a0004 a0006 a0008 a0012 a0014 a0018 a0022 a0024 a0025 a0029 a0030 a0032 a0034 a0035 a0044 a0045 a0046 a0049 a0050 a0058 a0059	a0001c0014 a0001c0033 a0001c0046 others(34): Show a0001c0014 a0001c0033 a0001c0046 a0002c0077 a0002c0099 a0002c0111 a0004c0039 a0004c0041 a0004c0042 a0004c0043 a0006c0010 a0006c0024 a0006c0025 a0006c0027 a0006c0028 a0008c0083 a0012c0148 a0014c0034 a0018c0085 a0018c0086 a0022c0150 a0022c0152 a0024c0124 a0025c0125 a0025c0126 a0029c0082 a0030c0084 a0032c0089 a0034c0087 a0035c0090 a0044c0037 a0045c0038 a0046c0045 a0049c0153 a0050c0149 a0058c0132 a0059c0131	a0001c0014t0001 a0001c0033t0004 a0001c0046t0006 others(34): Show a0001c0014t0001 a0001c0033t0004 a0001c0046t0006 a0002c0077t0003 a0002c0099t0004 a0002c0111t0010 a0004c0039t0004 a0004c0041t0001 a0004c0042t0002 a0004c0043t0001 a0006c0010t0001 a0006c0024t0001 a0006c0025t0001 a0006c0027t0002 a0006c0028t0001 a0008c0083t0001 a0012c0148t0017 a0014c0034t0004 a0018c0085t0006 a0018c0086t0006 a0022c0150t0001 a0022c0152t0001 a0024c0124t0001 a0025c0125t0002 a0025c0126t0002 a0029c0082t0001 a0030c0084t0003 a0032c0089t0001 a0034c0087t0001 a0035c0090t0003 a0044c0037t0003 a0045c0038t0001 a0046c0045t0003 a0049c0153t0001 a0050c0149t0010 a0058c0132t0001 a0059c0131t0002	a0001c0014t0001g0243 a0001c0014t0001g0244 a0001c0033t0004g0125 others(37): Show a0001c0014t0001g0243 a0001c0014t0001g0244 a0001c0033t0004g0125 a0001c0046t0006g0063 a0002c0077t0003g0018 a0002c0099t0004g0031 a0002c0111t0010g0248 a0004c0039t0004g0056 a0004c0041t0001g0246 a0004c0042t0002g0197 a0004c0043t0001g0245 a0006c0010t0001g0183 a0006c0010t0001g0185 a0006c0010t0001g0187 a0006c0024t0001g0210 a0006c0025t0001g0186 a0006c0027t0002g0193 a0006c0028t0001g0211 a0008c0083t0001g0034 a0012c0148t0017g0070 a0014c0034t0004g0128 a0018c0085t0006g0029 a0018c0086t0006g0030 a0022c0150t0001g0179 a0022c0152t0001g0175 a0024c0124t0001g0205 a0025c0125t0002g0123 a0025c0126t0002g0122 a0029c0082t0001g0228 a0030c0084t0003g0198 a0032c0089t0001g0120 a0034c0087t0001g0083 a0035c0090t0003g0019 a0044c0037t0003g0236 a0045c0038t0001g0026 a0046c0045t0003g0004 a0049c0153t0001g0171 a0050c0149t0010g0071 a0058c0132t0001g0066 a0059c0131t0002g0069	40	256	0.1563	-61	c.827 others(78): Show c.827+3145_827+3205delGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	320432	TCAGAGAT others(54): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0110 a0002c0110	a0002c0110t0002 a0002c0110t0002	a0002c0110t0002g0040 a0002c0110t0002g0040	1	256	0.0039	-61	c.827 others(78): Show c.827+3365_827+3425delCCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	321347	TCAGAGAT others(54): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0006 a0001c0016t0006	a0001c0016t0006g0060 a0001c0016t0006g0060	1	256	0.0039	-61	c.828 others(78): Show c.828-4202_828-4142delCCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	321713	TCAGAGAT others(54): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01433.hp1 HG02486.hp1 others(15): Show HG01099.hp1 HG01433.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03669.hp1 NA18522.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0008 a0012 a0014 a0018 a0029 a0032 a0044 a0045 a0058 a0059	a0001c0033 a0001c0046 a0002c0077 others(15): Show a0001c0033 a0001c0046 a0002c0077 a0002c0095 a0002c0099 a0002c0111 a0004c0039 a0008c0083 a0012c0148 a0014c0034 a0018c0085 a0018c0086 a0029c0082 a0032c0089 a0044c0037 a0045c0038 a0058c0132 a0059c0131	a0001c0033t0004 a0001c0046t0006 a0002c0077t0003 others(15): Show a0001c0033t0004 a0001c0046t0006 a0002c0077t0003 a0002c0095t0001 a0002c0099t0004 a0002c0111t0010 a0004c0039t0004 a0008c0083t0001 a0012c0148t0017 a0014c0034t0004 a0018c0085t0006 a0018c0086t0006 a0029c0082t0001 a0032c0089t0001 a0044c0037t0003 a0045c0038t0001 a0058c0132t0001 a0059c0131t0002	a0001c0033t0004g0125 a0001c0046t0006g0063 a0002c0077t0003g0018 others(15): Show a0001c0033t0004g0125 a0001c0046t0006g0063 a0002c0077t0003g0018 a0002c0095t0001g0002 a0002c0099t0004g0031 a0002c0111t0010g0248 a0004c0039t0004g0056 a0008c0083t0001g0034 a0012c0148t0017g0070 a0014c0034t0004g0128 a0018c0085t0006g0029 a0018c0086t0006g0030 a0029c0082t0001g0228 a0032c0089t0001g0120 a0044c0037t0003g0236 a0045c0038t0001g0026 a0058c0132t0001g0066 a0059c0131t0002g0069	18	256	0.0703	-61	c.828 others(78): Show c.828-3897_828-3837delCCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	380030	TGCAGGGG others(54): Show TGCAGGGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATCGCTTGGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG00741.hp1 others(63): Show HG00544.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18970.hp2 NA18994.hp2 NA18997.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011 a0012 a0014 a0018 a0019 a0023 a0025 a0027 a0030 a0037 a0040 a0053 a0057	a0001c0011 a0001c0033 a0001c0050 others(50): Show a0001c0011 a0001c0033 a0001c0050 a0001c0051 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0067 a0002c0006 a0002c0008 a0002c0021 a0002c0076 a0002c0077 a0002c0098 a0002c0111 a0002c0112 a0002c0114 a0002c0122 a0003c0134 a0003c0138 a0004c0040 a0004c0042 a0004c0043 a0004c0044 a0005c0144 a0005c0145 a0006c0010 a0006c0025 a0006c0026 a0006c0027 a0006c0028 a0008c0083 a0008c0117 a0008c0118 a0008c0120 a0011c0154 a0011c0161 a0012c0148 a0012c0163 a0014c0034 a0014c0058 a0014c0065 a0018c0086 a0019c0047 a0023c0143 a0025c0126 a0027c0101 a0030c0084 a0037c0029 a0040c0048 a0053c0139 a0057c0130	a0001c0011t0001 a0001c0033t0004 a0001c0050t0004 others(51): Show a0001c0011t0001 a0001c0033t0004 a0001c0050t0004 a0001c0051t0004 a0001c0061t0001 a0001c0062t0001 a0001c0063t0002 a0001c0064t0001 a0001c0067t0001 a0002c0006t0001 a0002c0008t0001 a0002c0021t0001 a0002c0021t0005 a0002c0076t0001 a0002c0077t0003 a0002c0098t0001 a0002c0111t0010 a0002c0112t0001 a0002c0114t0001 a0002c0122t0002 a0003c0134t0001 a0003c0138t0001 a0004c0040t0001 a0004c0042t0002 a0004c0043t0001 a0004c0044t0001 a0005c0144t0004 a0005c0145t0001 a0006c0010t0001 a0006c0025t0001 a0006c0026t0001 a0006c0027t0002 a0006c0028t0001 a0008c0083t0001 a0008c0117t0001 a0008c0118t0001 a0008c0120t0002 a0011c0154t0001 a0011c0161t0002 a0012c0148t0017 a0012c0163t0001 a0014c0034t0004 a0014c0058t0001 a0014c0065t0001 a0018c0086t0006 a0019c0047t0001 a0023c0143t0001 a0025c0126t0002 a0027c0101t0007 a0030c0084t0003 a0037c0029t0001 a0040c0048t0008 a0053c0139t0003 a0057c0130t0001	a0001c0011t0001g0023 a0001c0011t0001g0024 a0001c0011t0001g0025 others(63): Show a0001c0011t0001g0023 a0001c0011t0001g0024 a0001c0011t0001g0025 a0001c0033t0004g0125 a0001c0050t0004g0057 a0001c0051t0004g0059 a0001c0061t0001g0080 a0001c0062t0001g0164 a0001c0063t0002g0163 a0001c0064t0001g0032 a0001c0067t0001g0006 a0002c0006t0001g0116 a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 a0002c0006t0001g0237 a0002c0006t0001g0238 a0002c0008t0001g0111 a0002c0008t0001g0112 a0002c0008t0001g0113 a0002c0008t0001g0114 a0002c0021t0001g0242 a0002c0021t0005g0250 a0002c0076t0001g0087 a0002c0077t0003g0018 a0002c0098t0001g0027 a0002c0111t0010g0248 a0002c0112t0001g0224 a0002c0114t0001g0015 a0002c0122t0002g0232 a0003c0134t0001g0217 a0003c0138t0001g0143 a0004c0040t0001g0216 a0004c0042t0002g0197 a0004c0043t0001g0245 a0004c0044t0001g0072 a0005c0144t0004g0028 a0005c0145t0001g0172 a0006c0010t0001g0183 a0006c0010t0001g0185 a0006c0010t0001g0187 a0006c0025t0001g0186 a0006c0026t0001g0184 a0006c0027t0002g0193 a0006c0028t0001g0211 a0008c0083t0001g0034 a0008c0117t0001g0016 a0008c0118t0001g0036 a0008c0120t0002g0225 a0011c0154t0001g0067 a0011c0161t0002g0234 a0012c0148t0017g0070 a0012c0163t0001g0170 a0014c0034t0004g0128 a0014c0058t0001g0021 a0014c0065t0001g0165 a0018c0086t0006g0030 a0019c0047t0001g0022 a0023c0143t0001g0166 a0025c0126t0002g0122 a0027c0101t0007g0055 a0030c0084t0003g0198 a0037c0029t0001g0047 a0040c0048t0008g0012 a0053c0139t0003g0177 a0057c0130t0001g0169	66	256	0.2578	-61	c.260 others(78): Show c.2605+100_2605+160delGGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCGCTTGGAGCAG	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	380451	GCTTGGAG others(54): Show GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp1 HG02071.hp1 others(10): Show HG00280.hp2 HG01261.hp1 HG02071.hp1 HG02083.hp2 HG03017.hp2 HG03490.hp2 HG03942.hp1 HG06807.hp1 NA18987.hp2 NA18994.hp1 NA19005.hp1 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0012 a0017	a0001c0059 a0002c0005 a0003c0135 others(9): Show a0001c0059 a0002c0005 a0003c0135 a0004c0019 a0004c0073 a0005c0160 a0006c0024 a0008c0022 a0010c0103 a0012c0164 a0012c0165 a0017c0023	a0001c0059t0001 a0002c0005t0001 a0003c0135t0001 others(9): Show a0001c0059t0001 a0002c0005t0001 a0003c0135t0001 a0004c0019t0001 a0004c0073t0001 a0005c0160t0005 a0006c0024t0001 a0008c0022t0001 a0010c0103t0003 a0012c0164t0001 a0012c0165t0005 a0017c0023t0005	a0001c0059t0001g0100 a0002c0005t0001g0206 a0003c0135t0001g0173 others(10): Show a0001c0059t0001g0100 a0002c0005t0001g0206 a0003c0135t0001g0173 a0004c0019t0001g0091 a0004c0073t0001g0068 a0005c0160t0005g0129 a0006c0024t0001g0210 a0008c0022t0001g0201 a0010c0103t0003g0230 a0012c0164t0001g0215 a0012c0165t0005g0017 a0017c0023t0005g0207 a0017c0023t0005g0208	13	256	0.0508	-61	c.260 others(78): Show c.2605+577_2605+637delACTTGGAGCAGTGGCTCACATCTGCAAC CCCAGCACTCTAGGAGGCTGAGATGGCAGGATC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619165	CCCCTCCC others(54): Show CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCCT GCCCTCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02486.hp2 others(4): Show HG01192.hp2 HG01243.hp1 HG02486.hp2 HG03453.hp1 HG06807.hp2 NA18980.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 others(4): Show a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0002c0002t0003g0161 a0002c0002t0003g0164	7	250	0.0280	-61	c.-10 others(80): Show c.-107+5460_-107+5520delTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCCTGCCCTCCCTGCTCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619209	CCCCCTGC others(54): Show CCCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCACTCCC CTCCCTGCAGCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18522.hp1 HG01346.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0080 a0001c0001t0001g0044 a0001c0001t0001g0080	2	250	0.0080	-61	c.-10 others(80): Show c.-107+5494_-107+5554delCTGCCCTCCCTGCTCCCTCCCTGCAG CCCCCTGCCCCCCCACTCCCCTCCCTGCAGCTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP6_chr7_154047398_154899285	154062923	GGGTGTTA others(54): Show GGGTGTTAGTTGTCCAGGTAGAAATTTCAAATCTTCCGACGGCAGGTACC TTACGTGGAATT	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0002 a0002c0002t0029g0002	1	38	0.0263	-61	c.243 others(78): Show c.243+9861_243+9921delGGTGTTAGTTGTCCAGGTAGAAATTTCA AATCTTCCGACGGCAGGTACCTTACGTGGAATT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DPP6_chr7_154047398_154899285	154827766	GGGTGTCT others(54): Show GGGTGTCTCCCAGAAAGGATGTCCTGTGGGGGGGTGTCAGATCCCAAGCG GAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0001 a0002c0008t0012g0001	1	38	0.0263	-61	c.166 others(82): Show c.1666+20662_1666+20722delCCCAGAAAGGATGTCCTGTGGGGG GGTGTCAGATCCCAAGCGGAGTGAGGAGAAGGTGTCT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYSL5_chr2_26843132_26955351	26887694	CAAGACAG others(54): Show CAAGACAGTGGTTGGATAGCAATAATTGTTACTATTTTAAACATGGAGAG GCTTTCTCATGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG01891.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0166 a0001c0001t0003g0167 others(2): Show a0001c0001t0003g0088 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0171	5	232	0.0216	-61	c.-4- others(78): Show c.-4-10796_-4-10736delAGTGGTTGGATAGCAATAATTGTTACTA TTTTAAACATGGAGAGGCTTTCTCATGAAAGAC	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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