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
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(205): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCT TCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTT CCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	410	0.0024	212	c.-22 others(223): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(205): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0215 a0002c0003t0003g0215	1	424	0.0024	212	c.774 others(227): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDHR2_chr5_176544342_176600824	176591689	A A	ATGATGGT others(205): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19084.hp1 HG02056.hp1 NA19084.hp1	a0003 a0026 a0003 a0026	a0003c0002 a0026c0036 a0003c0002 a0026c0036	a0003c0002t0001 a0026c0036t0001 a0003c0002t0001 a0026c0036t0001	a0003c0002t0001g0234 a0026c0036t0001g0187 a0003c0002t0001g0234 a0026c0036t0001g0187	2	344	0.0058	212	c.373 others(229): Show c.3734+278_3734+279insTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDHR2_chr5_176544342_176600824	176591787	G G	GTGGTGTT others(205): Show GTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTG ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0265 a0001c0004t0001g0265	1	344	0.0029	212	c.373 others(229): Show c.3734+467_3734+468insTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(205): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0013 a0013	a0013c0059 a0013c0059	a0013c0059t0108 a0013c0059t0108	a0013c0059t0108g0327 a0013c0059t0108g0327	1	334	0.0030	212	c.-25 others(223): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATAAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CELSR3_chr3_48631463_48667886	48647407	A A	AGGGAGAT others(205): Show AGGGAGATGTGGGAGGGAGGGTGGAGGGGAGATGTGGGAGGGTGGAGGGT GGAGGGGAGATGTGGGAGGGTGGAGGGTGGAGGGGAGATGTGGGAGGGAG GGTGGAGGGGAGATGTGGGAGGGAGGGTGGAGGGGAGATGTGGGAGGGTG GAGGGTGGAGGGGAGATGTGGGAGGGTGGAGGGTGGAGGGGAGATGTGGG AGGGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp1 HG02559.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	2	206	0.0097	212	c.712 others(229): Show c.7129+433_7129+434insCTCCACCCTCCCTCCCACATCTCCCCTC CACCCTCCACCCTCCCACATCTCCCCTCCACCCTCCACCCTCCCACATCT CCCCTCCACCCTCCCTCCCACATCTCCCCTCCACCCTCCCTCCCACATCT CCCCTCCACCCTCCACCCTCCCACATCTCCCCTCCACCCTCCACCCTCCC ACATCTCCCCTCCACCCTCCCTCCCACATCTCCC	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding	20/34			chr3	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(205): Show ATAGAATATATATATATAGAATATATATATAGAATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	388	0.0026	212	c.487 others(229): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPVL3_chrX_51612020_51623912	51621690	T T	TTCTTCTT others(205): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	298	0.0034	212	c.-28 others(223): Show c.-2818_-2817insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGA	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2779		chrX	TogoVar
CFAP61_chr20_20047532_20365698	20296028	T T	TGCCTGCC others(205): Show TGCCTGCCTGCCTGCCTTCCTGCCTTCCCTTCCTCCCTCCCTCCCTACCT CCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTCCTTC CTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTTTCTT CCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCCCATC CTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp2 others(22): Show HG00099.hp2 HG00323.hp1 HG00639.hp2 HG00738.hp1 HG01346.hp2 HG01884.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02293.hp2 HG02300.hp2 HG02630.hp2 HG02965.hp2 HG03225.hp2 HG03490.hp1 HG03669.hp1 HG04204.hp2 HG06807.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA19003.hp2 NA19005.hp2 NA19064.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0047 a0002c0002 a0002c0004 a0002c0032 a0006c0011	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0004 a0001c0006t0001 a0001c0047t0002 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0002c0032t0001 a0006c0011t0003	a0001c0001t0002g0198 a0001c0001t0003g0124 a0001c0003t0001g0031 others(22): Show a0001c0001t0002g0198 a0001c0001t0003g0124 a0001c0003t0001g0031 a0001c0003t0001g0076 a0001c0003t0001g0164 a0001c0003t0001g0196 a0001c0003t0001g0202 a0001c0003t0001g0211 a0001c0003t0001g0221 a0001c0003t0004g0015 a0001c0006t0001g0220 a0001c0047t0002g0074 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0179 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0004t0001g0025 a0002c0004t0002g0209 a0002c0032t0001g0185 a0006c0011t0003g0098	25	236	0.1059	212	c.321 others(231): Show c.3217-2153_3217-2152insGCCTGCCTGCCTGCCTTCCTGCCTTC CCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCCCTTCCTCCC TCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTTCCTCCATCC TTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTCTTTCCCT TCCTCCCTCCCTTCCTTCCCATCCTCCTTCCCTCCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20296054	C C	CCTGCCTT others(205): Show CCTGCCTTCCCTTCCTCCCTCCCTCCCTACCTCCCCTCCCTCCTTCCTTC CCTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTT TCCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCC TTCTTTCCCTTCCTCCCTCCCTTCCTTCCCATCCTCCTTCCCTCCCTCCT TCCTTCCTGCCTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0028 a0028	a0028c0044 a0028c0044	a0028c0044t0002 a0028c0044t0002	a0028c0044t0002g0035 a0028c0044t0002g0035	1	236	0.0042	212	c.321 others(231): Show c.3217-2126_3217-2125insTGCCTTCCCTTCCTCCCTCCCTCCCT ACCTCCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTT CCTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCT TTCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTC CCATCCTCCTTCCCTCCCTCCTTCCTTCCTGCCTTC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHM_chrX_85856180_86052558	85911160	T T	TATATATA others(205): Show TATATATATATGAATATATATATATGTATATATATATATATGAATATATA TATATGAATATATATATGAATATATATATGAATATATATATGAATATATA TATGAATATATATATGAATATATATGAATATATATATGAATATATATATG AATATATATATGAATATATATATGAATATATATATGAATATATATATATG AATATATATATGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0244 a0001c0001t0021g0244	1	245	0.0041	212	c.124 others(229): Show c.1244+100_1244+101insTCATATATATATTCATATATATATATTC ATATATATATTCATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATTCATATATATATTCATATATATATTCATATAT ATATTCATATATATATTCATATATATATTCATATATATATATTCATATAT ATATATATACATATATATATATTCATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CLTCL1_chr22_19174473_19296719	19202509	C C	CGCCATCC others(205): Show CGCCATCCACGGCACCTCCCGCACCACCCTCCTTCCGCCATCCACGGCAC CTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACCCC TCCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCC ACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGC ACCACCCCTCCTT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0299 a0005c0007t0006g0299	1	346	0.0029	212	c.360 others(231): Show c.3601-1017_3601-1016insAAGGAGGGGTGGTGCGGGAGGTGCCG TGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGG AGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGCGGG AGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGG CGGAAGGAGGGTGGTGCGGGAGGTGCCGTGGATGGC	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNTNAP5_chr2_124020287_124926219	124860420	C C	CTTCTTTC others(205): Show CTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	64	0.0156	212	c.321 others(231): Show c.3218-4883_3218-4882insTTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL21A1_chr6_56051590_56252580	56098067	A A	ATATAAGT others(205): Show ATATAAGTATATAAATATATATAAATATATATAAGTATATAAATATATAT ATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATAT AAATATATATAAATATATATAAGTATATAAATATATATATAAATATATAT AAGTATATATAAATATATATAAATATATATAAGTATATATAAATATATAA AAATATATATAAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	264	0.0038	212	c.181 others(231): Show c.1812+3404_1812+3405insCTTATATATATTTTTATATATTTATA TATACTTATATATATTTATATATATTTATATATACTTATATATATTTATA TATATATTTATATACTTATATATATTTATATATATTTATATACTTATATA TATTTATATATATATTTATATACTTATATATATTTATATATATATTTATA TACTTATATATATTTATATATATTTATATACTTATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098067	A A	ATATAAGT others(205): Show ATATAAGTATATAAATATATATAAATATATATAAGTATATAATATATATT ATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATAT AAATATATATAAAATATATATAAGTATATAAATATATATATAAATATATA TATGTATATATAAATATATATAAATATATATAAGTATATATAAATATATA AAAATATATAAAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	264	0.0038	212	c.181 others(231): Show c.1812+3404_1812+3405insCTTTATATATTTTTATATATTTATAT ATACTTATATATATTTATATATATTTATATATACATATATATATTTATAT ATATATTTATATACTTATATATATTTTATATATATTTATATACTTATATA TATTTATATATATATTTATATACTTATATATATTTATAATATATATTATA TACTTATATATATTTATATATATTTATATACTTATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255622	A A	AGGCAGGC others(205): Show AGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGC AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp2 HG02155.hp2 others(9): Show HG02071.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp2 HG02717.hp2 NA18941.hp2 NA18968.hp2 NA18982.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0058 others(7): Show a0001c0001 a0001c0003 a0001c0058 a0002c0002 a0002c0004 a0002c0092 a0003c0049 a0004c0005 a0004c0077 a0004c0078	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0058t0001 a0002c0002t0002 a0002c0004t0001 a0002c0092t0001 a0003c0049t0001 a0004c0005t0001 a0004c0077t0001 a0004c0078t0001	a0001c0001t0001g0037 a0001c0001t0001g0155 a0001c0001t0005g0041 others(9): Show a0001c0001t0001g0037 a0001c0001t0001g0155 a0001c0001t0005g0041 a0001c0003t0001g0014 a0001c0058t0001g0102 a0002c0002t0002g0304 a0002c0004t0001g0214 a0002c0092t0001g0237 a0003c0049t0001g0243 a0004c0005t0001g0033 a0004c0077t0001g0015 a0004c0078t0001g0068	12	344	0.0349	212	c.85- others(229): Show c.85-12889_85-12888insCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGAA others(205): Show AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGAAGGC AGGAAAGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0143 a0001c0006t0001g0143	1	344	0.0029	212	c.85- others(229): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCTTTCCTGCCTTCCCCTTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD10_chr5_116080025_116298287	116129459	T T	TATATATA others(205): Show TATATATATACTATATACTAATGTAATATACATTAGTATATATATACTAT ATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATA TACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATA TACTATATACTAATGTAATATACATTAGTATATATATACTATATACTAAT GTAATATACATTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01928.hp1 HG01943.hp2 others(1): Show HG01167.hp2 HG01928.hp1 HG01943.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0290 others(1): Show a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0290 a0001c0001t0001g0347	4	350	0.0114	212	c.400 others(229): Show c.400-4458_400-4457insCTATATACTAATGTAATATACATTAGTA TATATATACTATATACTAATGTAATATACATTAATATATATACTATATAC TAATGTAATATACATTAGTATATATATACTATATACTAATGTAATATACA TTAGTATATATATACTATATACTAATGTAATATACATTAGTATATATATA CTATATACTAATGTAATATACATTAGTATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(205): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	324	0.0031	212	c.101 others(229): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(205): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03834.hp2 HG02723.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0065 a0001c0001t0001g0066	2	324	0.0062	212	c.101 others(229): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(205): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCTGGGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	324	0.0031	212	c.101 others(229): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCTGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(205): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATTTCTATATATATATATATATTTCTAT ATATATATATTTCTATATATATATATTTCTATATATATATTTCTATATAT ATATATTTCTATATATATATATTTCTATATATATATATATATTTCTATAT ATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18969.hp1 NA18943.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0292 a0001c0001t0006g0294 a0001c0001t0006g0292 a0001c0001t0006g0294	2	370	0.0054	212	c.56 others(223): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATATATTTCTATATATATATATTTCTATATATATATATTTCTATATA TATATTTCTATATATATATATTTCTATATATATATATTTCTATATATATA TATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(205): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATTTCTATATATATATATATATTTCTATATAT ATATATATTTCTATATATATATATTTCTATATATATATATTTCTATATAT ATATATTTCTATATATATATATTTCTATATATATATATATATTTCTATAT ATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	370	0.0027	212	c.56 others(223): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATTTCTATATATATATA TATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATA TATATTTCTATATATATATATTTCTATATATATATATTTCTATATATATA TATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(205): Show ATATATATATATATATATATGTATATATTTCTATATATATATATATATAT ATATATATTTCTATATATATATATATATATATATATATATTTCTATATAT ATATATTTCTATATATATATATTTCTATATATATATATATTTCTATATAT ATATATATTTCTATATATATATATTTCTATATATATATATATTTCTATAT ATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	370	0.0027	212	c.56 others(223): Show c.5645_*5646insTATATATATATATATATATGTATATATTTCTATA TATATATATATATATATATATATTTCTATATATATATATATATATATATA TATATTTCTATATATATATATTTCTATATATATATATTTCTATATATATA TATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATA TATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240923922	G G	GTCCCCAC others(205): Show GTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACT AACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCC ACACTGACCCGGC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0220 a0011c0019t0001g0220	1	350	0.0029	212	c.488 others(229): Show c.488+1277_488+1278insTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCCCACACTAACCCAGCCCCCCA CACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCC AACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCACACTAACCCAGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924460	A A	AGCCCCCC others(205): Show AGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCCACACTGACCCAGTCCCCACAC TAACCCGGCCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCA CACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC CCACACTAACCCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0037 a0037	a0037c0033 a0037c0033	a0037c0033t0001 a0037c0033t0001	a0037c0033t0001g0104 a0037c0033t0001g0104	1	350	0.0029	212	c.489 others(229): Show c.489-1258_489-1257insCACACTAACCCGGCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTG ACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCACA CTGACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924583	G G	GGCCCCCC others(205): Show GGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGCCCCCACAC TAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCC CCACACTAACCCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0296 a0008c0008t0002g0296	1	350	0.0029	212	c.489 others(229): Show c.489-1124_489-1123insAGTCCCCACACTAACCCAGCCCCCAACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGCCCCC ACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCC CCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTAACCCAGCCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924583	G G	GGCCCCCC others(205): Show GGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGCCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCC CCACACTAACCCA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	350	0.0029	212	c.489 others(229): Show c.489-1124_489-1123insAGTCCCCACACTAACCCAGCCCCCAACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGCCCCC ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCC CCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTAACCCAGCCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461849	A A	ACACACAT others(205): Show ACACACATTCACCATGGAGGGCATATCCGCACAGCGGCCACATTCACCAT GGAGGGCCTATCCCCACAGCAGCCACATTCGCCATGGAGGGTGTATCCGC ACAGCAGCCACATTCGCCATGGGGGGCATATCCGCACAGCACCCACATTC CCCATGGAGGGCCTATCCACACAGCAGCCACATTCACCATGGGGGAGGCG TATCCGCACAATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00733.hp1 others(13): Show HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01515.hp2 HG02055.hp1 HG02698.hp2 HG03041.hp1 HG04115.hp1 HG04199.hp2 NA20752.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0007 a0007c0014 a0001c0002 a0001c0007 a0007c0014	a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 others(3): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 a0001c0002t0022 a0001c0007t0031 a0007c0014t0006	a0001c0002t0002g0008 a0001c0002t0002g0027 a0001c0002t0002g0046 others(13): Show a0001c0002t0002g0008 a0001c0002t0002g0027 a0001c0002t0002g0046 a0001c0002t0002g0067 a0001c0002t0002g0084 a0001c0002t0002g0103 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0164 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0006g0045 a0001c0002t0014g0120 a0001c0002t0022g0169 a0001c0007t0031g0029 a0007c0014t0006g0230	16	238	0.0672	212	c.635 others(229): Show c.635-3208_635-3207insCATTGTGCGGATACGCCTCCCCCATGGT GAATGTGGCTGCTGTGTGGATAGGCCCTCCATGGGGAATGTGGGTGCTGT GCGGATATGCCCCCCATGGCGAATGTGGCTGCTGTGCGGATACACCCTCC ATGGCGAATGTGGCTGCTGTGGGGATAGGCCCTCCATGGTGAATGTGGCC GCTGTGCGGATATGCCCTCCATGGTGAATGTGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448323	G G	GCAAGGGA others(205): Show GCAAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGAAGGGAGGGAGGGAGGGGGAGGAGGGAGGAGGAAGGGAAAGAA GGAAGGAAGAAAGGGAGGGAGGGAGAGAGGGAGGGAGGCAGGAGGGAGGG AGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0015 a0015	a0015c0063 a0015c0063	a0015c0063t0010 a0015c0063t0010	a0015c0063t0010g0045 a0015c0063t0010g0045	1	126	0.0079	212	c.156 others(233): Show c.1561+20388_1561+20389insTCCCTCCCTCCCTCCCTCCCTCCT GCCTCCCTCCCTCTCTCCCTCCCTCCCTTTCTTCCTTCCTTCTTTCCCTT CCTCCTCCCTCCTCCCCCTCCCTCCCTCCCTTCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTCCCTCCCT TCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSNK1G3_chr5_123507177_123622049	123510415	T T	TACGTTTC others(205): Show TACGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0143 a0001c0001t0009g0143	1	294	0.0034	212	c.-24 others(223): Show c.-2403_-2402insACGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAG	CSNK1G3	ENSG00000151292.19	transcript	ENST00000696905.1	protein_coding		1761		chr5	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(205): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	360	0.0028	212	c.28- others(227): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CTU2_chr16_88701503_88720396	88712921	C C	CCCCCTTC others(205): Show CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02280.hp2 others(4): Show HG01891.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG03209.hp2 HG03453.hp2 NA18906.hp2	a0005 a0010 a0005 a0010	a0005c0006 a0010c0014 a0005c0006 a0010c0014	a0005c0006t0001 a0010c0014t0001 a0005c0006t0001 a0010c0014t0001	a0005c0006t0001g0019 a0005c0006t0001g0020 a0005c0006t0001g0162 others(1): Show a0005c0006t0001g0019 a0005c0006t0001g0020 a0005c0006t0001g0162 a0010c0014t0001g0020	7	418	0.0168	212	c.737 others(225): Show c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(205): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGC GCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCG CGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGC AGCGCGGGAGGCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01346.hp2 others(6): Show HG00609.hp2 HG00639.hp2 HG01346.hp2 HG02109.hp1 HG02132.hp2 NA18747.hp2 NA18967.hp2 NA19066.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0022 a0002c0003 others(1): Show a0001c0001 a0001c0022 a0002c0003 a0002c0009	a0001c0001t0001 a0001c0022t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0022t0002 a0002c0003t0001 a0002c0009t0001	a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0345 others(6): Show a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0345 a0001c0022t0002g0117 a0002c0003t0001g0032 a0002c0003t0001g0051 a0002c0003t0001g0056 a0002c0003t0001g0075 a0002c0009t0001g0072	9	380	0.0237	212	c.121 others(229): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCG CCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCC TGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAZAP1_chr19_1402586_1440684	1420019	C C	TGAACGTC others(205): Show TGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCA CCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	374	0.0027	212	c.304 others(229): Show c.304-1130_304-1129insTGAACGTCACGGCGGCGAGCACTCACCC CACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCA CCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCAC TCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAG CACTCACCCCACGCGCACACTCATGAAACCACCC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11			chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420072	C C	TGAACGTC others(205): Show TGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCA CCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	374	0.0027	212	c.304 others(229): Show c.304-1077_304-1076insTGAACGTCACGGCGGCGAGCACTCACCC CACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCA CCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCAC TCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAG CACTCACCCCACGCGCACACTCATGAAACCACCC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11			chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420076	A A	AGTCACGG others(205): Show AGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCC GAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCAC CCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAAC CACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGA AACCACCCCGAAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0106 a0001c0001t0021g0106	1	374	0.0027	212	c.304 others(229): Show c.304-1064_304-1063insGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACA CTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGC ACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACG CGCACACTCATGAAACCACCCCGAACGTCACGGC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420122	T T	TCCCGAAC others(205): Show TCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACA CTCATGAAACCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03688.hp1 NA19070.hp2 others(2): Show HG02280.hp1 HG03688.hp1 NA19070.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0003 a0001c0002t0009 others(1): Show a0001c0001t0009 a0001c0002t0003 a0001c0002t0009 a0001c0002t0020	a0001c0001t0009g0128 a0001c0002t0003g0123 a0001c0002t0003g0129 others(2): Show a0001c0001t0009g0128 a0001c0002t0003g0123 a0001c0002t0003g0129 a0001c0002t0009g0119 a0001c0002t0020g0116	5	374	0.0134	212	c.304 others(227): Show c.304-973_304-762dupCCCCGAACGTCACGGCGGCGAGCACTCACC CCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTC ACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCA CTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGA GCACTCACCCCACGCGCACACTCATGAAACCA	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420122	T T	TCCCGAAC others(205): Show TCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGTGAGCACTCACCCCACGCGCACA CTCATGAAACCAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0114 a0001c0002t0012g0114	1	374	0.0027	212	c.304 others(227): Show c.304-850_304-849insTGAGCACTCACCCCACGCGCACACTCATGA AACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCA TGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACAC TCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCA CACTCATGAAACCACCCCGAACGTCACGGCGG	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(205): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATACATATAT ATACTATATATGTGTGTGTGTGTATATATATATATATATATATATATATA TTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0116 a0001c0002t0007g0116	1	380	0.0026	212	c.-11 others(223): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DDX51_chr12_132131594_132149319	132135485	A A	ACTCCTCC others(205): Show ACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTG CCCACGGTGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0001 a0013c0026t0001	a0013c0026t0001g0060 a0013c0026t0001g0060	1	334	0.0030	212	c.37 others(223): Show c.3786_*3787insCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG AGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGG GCACACTCGGGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGAGGT GGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGCGGGCACC GTGGGCACACTCGGGGAGGTGGGAGGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1108		chr12	TogoVar
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(205): Show ATATGTATATATATGTGTGTATATATATACACACATATATATGTATATAT GTGTGTATATATATACACACATATATATGTATATATATGTGTGTATATAT ATACACACACATATATGTATATATATGTGTGTATATATATACACACATAT ATGTATATATACACATATATACATATATGTATATATACACATATATACAT ATATGTATATGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0062 a0001c0005t0029g0062	1	94	0.0106	212	c.804 others(229): Show c.804+6897_804+6898insCACATATACATATATGTATATATGTGTA TATATACATATATGTATATATGTGTATATATACATATATGTGTGTATATA TATACACACATATATATACATATATGTGTGTGTATATATATACACACATA TATATACATATATATGTGTGTATATATATACACACATATATACATATATA TGTGTGTATATATATACACACATATATATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DHRSX_chrX_2214506_2505976	2282770	G G	GGGAGAGA others(205): Show GGGAGAGAGGGAAGGAAGGAGAGAGGGAGGGAGGGAGAGGGAGAATGGGA GAGAGAGAAGAGGGGAGAAAGAGGGAGAGAGGGAAGGAAGGAGAGAGGGA GAGAGAGAATGGGAGAAAAGGAGAGAGAGAAGAGGGGAGAAAGAGGGAGA GAGGGAAGGAAGGAGAGAGGGAGGGAGGGAGAGGGAGAATGGGAGAGAGA GAAGAGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0004 a0002c0005t0004g0004	1	50	0.0200	212	c.388 others(229): Show c.388+8731_388+8732insTTCTCCCCTCTTCTCTCTCTCCCATTCT CCCTCTCCCTCCCTCCCTCTCTCCTTCCTTCCCTCTCTCCCTCTTTCTCC CCTCTTCTCTCTCTCCTTTTCTCCCATTCTCTCTCTCCCTCTCTCCTTCC TTCCCTCTCTCCCTCTTTCTCCCCTCTTCTCTCTCTCCCATTCTCCCTCT CCCTCCCTCCCTCTCTCCTTCCTTCCCTCTCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHX40_chr17_59560610_59613345	59569699	A A	AAAATATA others(205): Show AAAATATATATATCTATATATATATTATAGATATATATATTATATATATA TCTATATATATATAGATATATATATAATATATATATCTATATATATAGAT ATATATATAATATATATATCTATATATATATAGATATATATATAATATAT ATATCTATATATATATAGATATATATATAATATATATATCTATATATATA TAGATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0039 a0001c0004t0002g0039	1	324	0.0031	212	c.281 others(227): Show c.281-819_281-818insAAATATATATATCTATATATATATTATAGA TATATATATTATATATATATCTATATATATATAGATATATATATAATATA TATATCTATATATATAGATATATATATAATATATATATCTATATATATAT AGATATATATATAATATATATATCTATATATATATAGATATATATATAAT ATATATATCTATATATATATAGATATATATAT	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17			chr17	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(205): Show TCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19011.hp2 NA18995.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0135 a0001c0001t0001g0140	2	284	0.0070	212	c.101 others(231): Show c.101-32145_101-32144insCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	322878	C C	CTGTTAGA others(205): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGT TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAGAC CGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGC GAGAGACCGGCGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	88	0.0114	212	c.392 others(231): Show c.3924+4127_3924+4128insACGCCGGTCTCTCGCTGGAGCCCCGC ACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGA GCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCT CGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGCCTCTC GCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322878	C C	CTGTTAGA others(205): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAG ACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCA GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG CGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGC GAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	88	0.0114	212	c.392 others(231): Show c.3924+4127_3924+4128insACACTGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCA CCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCAC CCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGC CCCGCACCCCCGCACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323010	G G	GGCGAGAG others(205): Show GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCG GGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGG GGTGCGGGGCTCCAGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGG GTGCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	88	0.0114	212	c.392 others(231): Show c.3924+3995_3924+3996insTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGAC TGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGCAC CCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323319	C C	CTGTTAGA others(205): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAG ACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCA GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG CGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGC GAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	88	0.0114	212	c.392 others(231): Show c.3924+3686_3924+3687insACACTGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCA CCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCAC CCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGC CCCGCACCCCCGCACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGAAGAA others(205): Show GGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGGAGGGG AGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGG GAGGAAGGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCG GGGCGGAGAGGGGGCGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCAGGGA GGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0006 a0001c0020t0006	a0001c0020t0006g0014 a0001c0020t0006g0014	1	88	0.0114	212	c.158 others(229): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCTCTCCGCCCCGCCCCCTCTCCGCCCCGCCCCTCTCCTTCT CTCCTCCTCTCCCCTCCCTTCCCCTCCCCTTCCTCCCCTCCCCTCCCCTC CCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTCTCCCCTCCCCCTCCCC TCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar

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