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
ZDHHC11B_chr5_705355_789729	754204	A A	ATGCTCAG others(499): Show ATGCTCAGGGGAAACAACTCTCGCCTATGAGCCTCCACCATGCTCAGGGG AAAGACTTCTCGCCTGTGAGCCTCCACCATGCTCAGTGGAAACACCTCTC ATCTGTGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATCTATGAGCC TCCACCATGCTCAGGAGAAACACCTCTCGCCTGTGAGCCTCCACCATGCT CAGGGGAAAGACCTCTCGCCTGTGAGCCTCCACCGTGCTCAGGGAAACAT CTCTCTTCCTTGCATCTCCACCGTGCTCAGGGGAAACACCTCTCGTCTAT GAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATCTGTGAGCCTCCACC ATGCTCAGCGGAAACACCTCTCGTCCTTGAGCCTCCACCGTGCTCAGGGG AAACACATCTCATCTATGAGTCTCCACTGTGCTCAGGGGAAACACCTCTC ATCTATGAGTCTCCACCATGCTCAGGGGAAACATGTCTCATCTATGAGCC TCCACCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0055 a0006c0018t0055	a0006c0018t0055g0261 a0006c0018t0055g0261	1	233	0.0043	506	c.503 others(521): Show c.503+793_503+794insCGGTGGAGGCTCATAGATGAGACATGTTTC CCCTGAGCATGGTGGAGACTCATAGATGAGAGGTGTTTCCCCTGAGCACA GTGGAGACTCATAGATGAGATGTGTTTCCCCTGAGCACGGTGGAGGCTCA AGGACGAGAGGTGTTTCCGCTGAGCATGGTGGAGGCTCACAGATGAGAGG TGTTTCCCCTGAGCACGGTGGAGGCTCATAGACGAGAGGTGTTTCCCCTG AGCACGGTGGAGATGCAAGGAAGAGAGATGTTTCCCTGAGCACGGTGGAG GCTCACAGGCGAGAGGTCTTTCCCCTGAGCATGGTGGAGGCTCACAGGCG AGAGGTGTTTCTCCTGAGCATGGTGGAGGCTCATAGATGAGAGGTGTTTC CCCTGAGCACGGTGGAGGCTCACAGATGAGAGGTGTTTCCACTGAGCATG GTGGAGGCTCACAGGCGAGAAGTCTTTCCCCTGAGCATGGTGGAGGCTCA TAGGCGAGAGTTGTTTCCCCTGAGCA	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13			chr5	TogoVar
ZDHHC11B_chr5_705355_789729	754593	A A	ATGCTCAG others(499): Show ATGCTCAGCGGAAACACCTCTCGTCCTTGAGCCTCCACCGTGCTCAGGGG AAACACGTCTCATCTATGAGTCTCCACTGTGCTCAGGGGAAACACCTCTC ATTTATGAGTCTCCACCATGCTCAGGGGAAACACGTCTCATCTATGAGCC TCCACCGTGCTCAGGGGAAACACCTCTCGCCTATGAGCCTCCACCATGCT CAGGGGAAACACCTCTCGCCTGTGAGCCTCCACCATGCTCAGTGGAAACA CCTCTCATCTGTGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCGCCTG TGAGCCTCCACCATGCTCAGGGGAAAGACCTCTCGCCTGTGAGCCTCCAC CATGCTCAGTGGAAACACCTCTCATCTGTAAGCCTCCACCGTGCTCAGGG AAACATCTCTCTTCCTTGCATCTCCACCGTGCTCAGGGGAAACACCTCTC GTCTATGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATCTGTGAGCC TCCACCG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0020 a0020	a0020c0055 a0020c0055	a0020c0055t0008 a0020c0055t0008	a0020c0055t0008g0184 a0020c0055t0008g0184	1	243	0.0041	506	c.503 others(521): Show c.503+404_503+405insCGGTGGAGGCTCACAGATGAGAGGTGTTTC CCCTGAGCACGGTGGAGGCTCATAGACGAGAGGTGTTTCCCCTGAGCACG GTGGAGATGCAAGGAAGAGAGATGTTTCCCTGAGCACGGTGGAGGCTTAC AGATGAGAGGTGTTTCCACTGAGCATGGTGGAGGCTCACAGGCGAGAGGT CTTTCCCCTGAGCATGGTGGAGGCTCACAGGCGAGAGGTGTTTCCCCTGA GCACGGTGGAGGCTCACAGATGAGAGGTGTTTCCACTGAGCATGGTGGAG GCTCACAGGCGAGAGGTGTTTCCCCTGAGCATGGTGGAGGCTCATAGGCG AGAGGTGTTTCCCCTGAGCACGGTGGAGGCTCATAGATGAGACGTGTTTC CCCTGAGCATGGTGGAGACTCATAAATGAGAGGTGTTTCCCCTGAGCACA GTGGAGACTCATAGATGAGACGTGTTTCCCCTGAGCACGGTGGAGGCTCA AGGACGAGAGGTGTTTCCGCTGAGCA	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13			chr5	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(499): Show CATATATATCACATATATCATATATATCACATATATCATATATCATATAT ATCATATATATCACATACATGATATATATCATATGTGATATATATCATAT ATATCATATGTGATATATATCATATGTGATATATAGCATATATATCATAT GTGATATATATCATATGTGATATATATCATATGTGATATATATGGTATAT ATGATATATATCATATATATCATATGTGATATATATGATACATATGACAT ATATCATATGTGATACATATGACATATATCATATGTGATACATATGACAT ATATCATATGTGATACATATGACATATATCATATGTGATACATATGACAT ATATCATATGTGATACATATGACATATATCATATGTGATACATGTCACAT ATATCATATGTGATATATGTCACATATATCACATGTGATATATGTCACAT ATATCACATGTGATATATATCACATATATCACATGTGATATATATCATAT ATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	88	0.0114	506	c.-32 others(517): Show c.-3203_-3202insATATATATCACATATATCATATATATCACATATA TCATATATCATATATATCATATATATCACATACATGATATATATCATATG TGATATATATCATATATATCATATGTGATATATATCATATGTGATATATA GCATATATATCATATGTGATATATATCATATGTGATATATATCATATGTG ATATATATGGTATATATGATATATATCATATATATCATATGTGATATATA TGATACATATGACATATATCATATGTGATACATATGACATATATCATATG TGATACATATGACATATATCATATGTGATACATATGACATATATCATATG TGATACATATGACATATATCATATGTGATACATATGACATATATCATATG TGATACATGTCACATATATCATATGTGATATATGTCACATATATCACATG TGATATATGTCACATATATCACATGTGATATATATCACATATATCACATG TGATATATATCATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ACSF3_chr16_89088852_89161233	89147208	A A	AGAGGAGG others(500): Show AGAGGAGGGAGGGTCCACAGAGTGAGTGAGAGAGGAGGGAGGGTCCACAG AGTGAGTGAGGGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGA GGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAG GGAGGAGGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAG AGTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGA GGGTCCACAGAGTGAGTGAGAGAGGAGGGAGGGTCCACAGAGTGAGTGAG GGAGGAGGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAG AGTGAGTGAGAGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGA GGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAG GGAGGAGGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGGGCCACAGAGT GAGTGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0296 a0001c0001t0049g0296	1	107	0.0093	507	c.161 others(526): Show c.1613+1188_1613+1189insAGAGGAGGGAGGGTCCACAGAGTGAG TGAGGGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGAGGGGTC ACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAGGGAGGA GGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGAGTGAG TGAGGGAGGAGGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGTCC ACAGAGTGAGTGAGAGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGA GGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGAGTGAG TGAGAGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGAGGGGTC ACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAGGGAGGA GGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGGGCCACAGAGTGAGTGA GGGAGGAGGGAGGGTCCACAGAGTGAGTGAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAMTS16_chr5_5135330_5325304	5305067	A A	ACACACAC others(500): Show ACACACACATCCCACACCACACACACACATCCACACCACACACACACACA TCCCACACCACACACACACAATCCCACACCACACACACAATCCCACACCA CACACACACACATCCCACACCACACACACACATCCCACACCACACACACA CACATCCCACACCACACACACACACACCCCACACCACACACACACATCCA CACCACACACACACACATCCCACACCACACACAAATCCCACACCACACAC ACAATCCCACACCACACACACACACATCCCACACCACACACAACCCACGC CACACACACACATCCCACACCCATCCCACGCCACACACATCCACACCACA CACACATCCCACACCACACACACACACACACACATCCCATACCACACACA CACATCCCACACCACACACATCCCACACCACACACACATCCCACACCACA CACACACATCCCACACCACACACACACACATCCCACACCACACATACACA TCCCACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18906.hp2 HG03098.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0042 a0004c0009t0001 a0001c0001t0042 a0004c0009t0001	a0001c0001t0042g0088 a0004c0009t0001g0139 a0001c0001t0042g0088 a0004c0009t0001g0139	2	323	0.0062	507	c.318 others(526): Show c.3186+1309_3186+1310insTCCCACACCACACACACACATCCACA CCACACACACACACATCCCACACCACACACACACAATCCCACACCACACA CACAATCCCACACCACACACACACACATCCCACACCACACACACACATCC CACACCACACACACACACATCCCACACCACACACACACACACCCCACACC ACACACACACATCCACACCACACACACACACATCCCACACCACACACAAA TCCCACACCACACACACAATCCCACACCACACACACACACATCCCACACC ACACACAACCCACGCCACACACACACATCCCACACCCATCCCACGCCACA CACATCCACACCACACACACATCCCACACCACACACACACACACACACAT CCCATACCACACACACACATCCCACACCACACACATCCCACACCACACAC ACATCCCACACCACACACACACATCCCACACCACACACACACACATCCCA CACCACACATACACATCCCACACCACACACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	100058248	T T	TATCCCGG others(500): Show TATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACCCTCCTATCCCGGC TCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACAC CCCTATCCCGGCTCTAACCGTCCTATCCCGGCTCTAACACCCCTATCCCG GCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACC CTCCTATCCCAGCTCTAACACCCCATATCCCGGCTCTAACCCTCCTATCC CGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTA ACACCCCTATCCTGGCTCTAACCCTCCTATCCCGGCTCTAACCGTCCTAT CCCGGCTCTAACACCCCTATCCTGGCTCTAACCCTCCTATCCCGGCTCTT AACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCT ATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTC TTAACACC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0059 a0001c0034t0059	a0001c0034t0059g0157 a0001c0034t0059g0157	1	83	0.0120	507	c.213 others(526): Show c.2138-4195_2138-4194insGGTGTTAAGAGCCGGGATAGGAGGGT TAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGG GATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGG GTTAGAGCCAGGATAGGGGTGTTAGAGCCGGGATAGGACGGTTAGAGCCG GGATAGGAGGGTTAGAGCCAGGATAGGGGTGTTAGAGCCGGGATAGGGGT GTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGC CGGGATATGGGGTGTTAGAGCTGGGATAGGAGGGTTAGAGCCGGGATAGG GGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGA GCCGGGATAGGACGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAG GGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTA GAGCCGGGATAGGGGGTGTTAGAGCCGGGAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100058268	C C	CCCTATCC others(500): Show CCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCG GCTCTTAACACCCCTATCCCGGCTCTAACACCCCTATCCCAGCTCTAACC CTCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACACCCCTATCC CGGCTCTAACACCCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAA CCCTCCTATCCCAGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTA TCCCGGCTCTTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTC TAACCCTCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACACCCCT ATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCT CTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACCCTCC TATCCCGGCTCTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCT CTAACCCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0061 a0002c0001t0061	a0002c0001t0061g0141 a0002c0001t0061g0141	1	207	0.0048	507	c.213 others(526): Show c.2138-4215_2138-4214insAGGGTTAGAGCCGGGATAGGGGTGTT AGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGA TAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTT AAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGG ATAGGAGGGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGT TAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCG GGATAGGGGTGTTAAGAGCTGGGATAGGAGGGTTAGAGCCGGGATAGGGG GTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGC CGGGATAGGGGGTGTTAGAGCCGGGATAGGAGGGTTAGAGCTGGGATAGG GGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGA GCCGGGATAGGGGTGTTAGAGCCGGGATAGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(500): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGGAGGAGGAGGGGGGGAG GAGGGGGGGAGGAGGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGGGAGG AGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGAGGGGAGGAGGAG GAGGGGGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	183	0.0055	507	c.125 others(528): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCC TCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCC CCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCC CTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCCCC TCCCCCTCCCCCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCT CCCCCCCCTCCCCCCCCCTCCTCCCCCCCCCCTCCTCCTCCCCCCCTCCC CCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCT CCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCT CCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCT CTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(500): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAACA TAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATA TACGTATATACATATATAAATATATGTTGTATATACGTATATACTATATA TGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATAT ACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAT ATATAAAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0104 a0001c0006t0003g0105 a0001c0006t0003g0104 a0001c0006t0003g0105	2	99	0.0202	507	c.676 others(524): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA TATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATATTTATAT ATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATAC AACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGT ATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACA TATATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTAT ATACAACATATATTTATATATGTATATACGTATATACAACATATATTTAT ATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(500): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCAC CCCCCACCTCCCCCCACCCCCCACCCCCCACCTCCCCCCACCTCCCCCCA CCCCCACCCCCCACCTCCCCCCACCCCCACCCCCCACCCCCACCCCCCAC CCCCCACCCCCCACCTCCCCCCACCCCCCCCACCCCCACCCCCCACCCCC CACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0250 a0001c0004t0003g0250	1	5	0.2000	507	c.39+ others(524): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCACCTCCCCCCACCT CCCCCCACCCCCACCCCCCACCTCCCCCCACCCCCACCCCCCACCCCCAC CCCCCACCCCCCACCCCCCACCTCCCCCCACCCCCCCCACCCCCACCCCC CACCCCCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCAC CTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(500): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGTGGGGCTCATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0285 a0013c0017t0001g0285	1	214	0.0047	507	c.144 others(524): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCC CCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCAGGCGTGGGGCTCATCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C4orf50_chr4_5954375_6023431	6004211	G G	GTGATGGT others(500): Show GTGATGGTGATAATGATGGTGATGATGGTGATGGTGATGGTGATGATGGT GATGGTGGTGATGGTGATGGTGATGTTGGTGATGGTGGTGATGATGTGAT GGTAATGGTGATGATGGTGATGGTGATGATGTGGTGGTGATGGTGATGGT GACTGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGG TGATGGTGATGATGTGATGGTGATGTTGATGATGGTGGTGATGGTGATGA TGTGATGGCGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGT GATAGTGATGATGGTGATGATGCTGATGGTGATGATGGTGATGGTGATGA TGGTGATAGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGATG GTGATGGTGATTATGGTGATGATGGGATGGTGATGTTGATGATGGTGGTG ATGGTGATGATGTGATGGCGATGATAGTGATGATGGTGATGATGGTGATG GTGATGAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00558.hp2 others(52): Show HG00280.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02738.hp2 HG03017.hp1 HG03130.hp1 HG03491.hp2 HG03927.hp1 HG04184.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18995.hp1 NA19056.hp2 NA19057.hp1 NA19079.hp2 NA19084.hp1 NA19090.hp2 NA19091.hp2 NA20905.hp2	a0002 a0003 a0007 others(12): Show a0002 a0003 a0007 a0008 a0009 a0013 a0025 a0028 a0034 a0042 a0044 a0052 a0075 a0094 a0098	a0002c0002 a0003c0004 a0007c0007 others(12): Show a0002c0002 a0003c0004 a0007c0007 a0008c0008 a0009c0010 a0013c0080 a0025c0023 a0028c0031 a0034c0040 a0042c0043 a0044c0088 a0052c0108 a0075c0098 a0094c0059 a0098c0094	a0002c0002t0001 a0003c0004t0001 a0007c0007t0001 others(12): Show a0002c0002t0001 a0003c0004t0001 a0007c0007t0001 a0008c0008t0001 a0009c0010t0001 a0013c0080t0001 a0025c0023t0001 a0028c0031t0001 a0034c0040t0001 a0042c0043t0001 a0044c0088t0001 a0052c0108t0001 a0075c0098t0001 a0094c0059t0001 a0098c0094t0001	a0002c0002t0001g0081 a0002c0002t0001g0090 a0002c0002t0001g0091 others(51): Show a0002c0002t0001g0081 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0143 a0002c0002t0001g0156 a0002c0002t0001g0160 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0146 a0003c0004t0001g0191 a0003c0004t0001g0192 a0007c0007t0001g0171 a0007c0007t0001g0190 a0007c0007t0001g0193 a0007c0007t0001g0195 a0007c0007t0001g0203 a0007c0007t0001g0260 a0008c0008t0001g0003 a0008c0008t0001g0076 a0008c0008t0001g0184 a0008c0008t0001g0198 a0008c0008t0001g0199 a0009c0010t0001g0144 a0013c0080t0001g0212 a0025c0023t0001g0318 a0025c0023t0001g0319 a0028c0031t0001g0220 a0034c0040t0001g0291 a0034c0040t0001g0321 a0042c0043t0001g0335 a0042c0043t0001g0336 a0044c0088t0001g0159 a0052c0108t0001g0290 a0075c0098t0001g0272 a0094c0059t0001g0217 a0098c0094t0001g0180	55	344	0.1599	507	c.963 others(524): Show c.963+3784_963+3785insATCATCACCATCACCATCATCACCATCA TCACTATCATCGCCATCACATCATCACCATCACCACCATCATCAACATCA CCATCCCATCATCACCATAATCACCATCACCATCATCACCATCATCACCA TCATCACCATCACCATCATCACTATCACCATCATCACCATCACCATCATC ACCATCAGCATCATCACCATCATCACTATCACATCATCACCATCACCATC ATCACCATCATCACTATCATCGCCATCACATCATCACCATCACCACCATC ATCAACATCACCATCACATCATCACCATCACCATCATCACCATCATCACC ATCACCATCATCACCATCACCATCACAGTCACCATCACCATCACCACCAC ATCATCACCATCACCATCATCACCATTACCATCACATCATCACCACCATC ACCAACATCACCATCACCATCACCACCATCACCATCATCACCATCACCAT CACCATCATCACCATCATTATCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(500): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGAC GGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGCATGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0030 a0030	a0030c0111 a0030c0111	a0030c0111t0029 a0030c0111t0029	a0030c0111t0029g0255 a0030c0111t0029g0255	1	103	0.0097	507	c.300 others(524): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894500	C C	CGCACACA others(500): Show CGCACACATGCACACACACATGCATACATATACACATGCACACAATGTAC ACACATGCACGCACACATGCACACACACATGCATACATATACACATGCAC ACAATGTACACACATGCACACACACATGCATACATATACACATGCACACA ATGTACACACATGCACGCACACATGCACACACACATGCATACATATACAC ATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCATA CATATACACATGCACACAATGTACACACATGCACGCACACATGCACACAC ACATGCATACATATACACATGCACACAATGTACACACATGCACGCACACA TGCACACACACATGCATACATATACACATGCACACAATGTACACACATGC ACGCACACATGCACACACACATGCATACATATACACATGCACACAATGTA CACACATGCACGCACACATGCACACACACATGCATACATATACACATGCA CACAATGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	279	0.0036	507	c.380 others(524): Show c.380-2016_380-2015insACATTGTGTGCATGTGTATATGTATGCA TGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTAT ATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTG CATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTA CATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGC ATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATG TGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGT GTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTA TGCATGTGTGTGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGC ATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTA TATGTATGCATGTGTGTGTGCATGTGTGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CDHR2_chr5_176544342_176600824	176591689	A A	ATGATGGT others(500): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGAT GACGATGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0214 a0003c0002t0001g0214	1	225	0.0044	507	c.373 others(524): Show c.3734+278_3734+279insTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGA CGATGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGG TTGTGATGGTGATGGTGGTGATGATGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(500): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCCTTCCCC ACTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCC TTCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCC CACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCC CCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCG TCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCAC TCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTC TCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTC TCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCCT CCCTCTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0193 a0001c0002t0002g0193	1	2	0.5000	507	c.75- others(524): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCC CTCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCC CACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCC TTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCC CTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCT CCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCA CTCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCT CTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCC CTCCCCACTCCCCACTCCCTCCCTCTTCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(500): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCCCCCCTCCCCACTCCCCACTCCCT CCCTCTTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0113	1	2	0.5000	507	c.75- others(524): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC CTCCCCACTCCCCACTCCCTCCCTCTTCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(500): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCCTC CCTCTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	2	0.5000	507	c.75- others(524): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC TCCCCACTCCCCACTCCCTCCCTCTTCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(500): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTTCCCCCTCTTCCTACTGCC CCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCG TCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCAC TCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTC TCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTC TCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCCT CCCTCTTC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	2	0.5000	507	c.75- others(524): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCC CTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCT CCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCA CTCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCT CTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCC CTCCCCACTCCCCACTCCCTCCCTCTTCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(500): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTT CCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCT TTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA19043.hp2 NA19240.hp2 HG02258.hp2 NA19043.hp2 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0005 a0002c0001 a0004c0005	a0002c0001t0002 a0004c0005t0001 a0002c0001t0002 a0004c0005t0001	a0002c0001t0002g0003 a0004c0005t0001g0035 a0002c0001t0002g0003 a0004c0005t0001g0035	3	10	0.3000	507	c.69 others(518): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTT CCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCC TTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114198619	T T	TGGTCCCC others(500): Show TGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACA GCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCG TGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTC CCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGC GTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCG TCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGT ACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGAC GGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCC GTGGGTAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04228.hp2 HG06807.hp1 HG01168.hp2 HG04228.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0241 a0001c0001t0001g0034 a0001c0001t0001g0241	3	368	0.0082	507	c.172 others(524): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC ACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGA GGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTG CGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGT	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198619	T T	TGGTCCCC others(500): Show TGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACA GCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCG TGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTC CCCACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGC GTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCG TCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGT ACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGAC GGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCC GTGGGTAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	366	0.0027	507	c.172 others(524): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC GCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGA GGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTG CGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGT	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198733	G G	GTACGGTC others(500): Show GTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACG GTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGC GCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTG CGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGT GACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	331	0.0030	507	c.172 others(524): Show c.172-1589_172-1588insGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTAC GGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTA CGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGCTTAC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(500): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAAT ATTTTATT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03834.hp2 NA18939.hp1 others(3): Show HG03688.hp1 HG03834.hp2 NA18939.hp1 NA18964.hp1 NA18968.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0099 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102	6	97	0.0619	507	c.80- others(522): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTT TATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(500): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAAT ATTTTATT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	92	0.0109	507	c.80- others(522): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTT TATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(500): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAAT ATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAAT ATTTTATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0138 a0001c0001t0006g0138	1	92	0.0109	507	c.80- others(522): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTT ATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTT TATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CKM_chr19_45301413_45327875	45325126	A A	AAGGAGGC others(500): Show AAGGAGGCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCACC CTGGCCAACGCGGTGAAACCCTGTCTCTACTAAAATACAAAAATTAGCCG GACATGGTGGGACACACCAATAGTCTCAGCTACTCAGGAGGCCGAGATGG GAGGATCACTTGAGCCTGGGGAGGTGAGGCTGCGGTGAGCTGTGATCGCA CTGCTGCACTCCAGCCTTGGTGACAGAGCGAGACTGGTCTAAAAAAAAAA CAAAAAACAAAAAACAATTGAACTGAGGGAGACAGAGCAGAAGGATGGAC TCCAGAGCCTGAGAAGGGTAATAGGCCAGGTGCAGTGGCTCACACCTGTA ATCCCAGCACTTTGGGAGGCCAAGGAGGAAGGATCCCTTGAGCCCAGGAG TTAGAGACTAGCCTCGGCAACATAGCTAAACCCCGTCTCCACAAAAAATA AAAAAAACTACAAAAATTATCTGGGCGTAGTGGAGTGCATCTGTGGTCCC AGCTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	381	0.0026	507	c.-23 others(518): Show c.-2325_-2324insGAGTAGCTGGGACCACAGATGCACTCCACTACGC CCAGATAATTTTTGTAGTTTTTTTTATTTTTTGTGGAGACGGGGTTTAGC TATGTTGCCGAGGCTAGTCTCTAACTCCTGGGCTCAAGGGATCCTTCCTC CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGC CTATTACCCTTCTCAGGCTCTGGAGTCCATCCTTCTGCTCTGTCTCCCTC AGTTCAATTGTTTTTTGTTTTTTGTTTTTTTTTTAGACCAGTCTCGCTCT GTCACCAAGGCTGGAGTGCAGCAGTGCGATCACAGCTCACCGCAGCCTCA CCTCCCCAGGCTCAAGTGATCCTCCCATCTCGGCCTCCTGAGTAGCTGAG ACTATTGGTGTGTCCCACCATGTCCGGCTAATTTTTGTATTTTAGTAGAG ACAGGGTTTCACCGCGTTGGCCAGGGTGGTCTTGAACTCCTGAGCTCAAG CAATCCTCCTGCCTCAGCCTCCT	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding		2252		chr19	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(500): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	235	0.0043	507	c.630 others(522): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CPNE4_chr3_131528569_132040014	131978272	T T	TATATATA others(500): Show TATATATATTTATATATATATTTATATATATTTTATATATATTTATATAT ATTTATATTTATATATATATTTATATATATTTATATATATTTATATATTT ATATATATTTATATATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTATATATATATTTTATATATTTTTTATATATATATTT ATATTTATATATATATTTATATATATATTTTTATATATTTATATATATTT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATATATTTATATATATATTTTATATATATTTATATATATA TATTTATATATATATTTATATATATTTATATATATATATTTATATATATT TATATATATATTTATATATATTTATATATATGTATATTTATATATTTATA TATATTTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	84	0.0119	507	c.-2+ others(524): Show c.-2+56294_-2+56295insTAAATATATATAAATATATAAATATACA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TATAAATATATATAAATATATATATAAATATATATATATAAATATATATA AAATATATATATAAATATATATATATATAAATATATATATAAATATATAT ATAAATATATATATATAAATATATATAAATATATATATAAATATATATAT AAATATATATATAAATATATATAAATATATAAATATATATAAATATATAA AAATATATATATAAATATATATATAAATATAAATATATATATAAAAAATA TATAAAATATATATATAAATATATATATAAATATATATAAATATATAAAT ATATATATAAATATATATATAAATATATATAAATATATAAATATATATAA ATATATATAAATATATATATAAATATAAATATATATAAATATATATAAAA TATATATAAATATATATATAAATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CROCC2_chr2_240901336_240998311	240923889	T T	TCCCCACA others(500): Show TCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCA GTCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCAGC CCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCA GTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCGGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	210	0.0048	507	c.489 others(524): Show c.489-1489_489-1488insAGCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAG TCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC AGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(500): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGG GGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGAGGAGGGGGAGGGGAGGG GGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGAGGACGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGTGGGGAGGGGTGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0015 a0015	a0015c0063 a0015c0063	a0015c0063t0010 a0015c0063t0010	a0015c0063t0010g0045 a0015c0063t0010g0045	1	16	0.0625	507	c.416 others(528): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CACCCCTCCCCACCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTC CTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACAT CCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DOCK8_chr9_209865_470255	400959	C C	CCACCACC others(500): Show CCACCACCTCCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTC CTTCACCATCACCACAACATCCACCACCACCATCACCACCACCATCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCATCACCACC ACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCATCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCAC CACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCA TCACCACCTCCTCCACCATCACCACCATCACCTCCACCACCACCACCTCC TCCACCAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0133 a0003c0001t0001g0133	1	218	0.0046	507	c.323 others(526): Show c.3234+1735_3234+1736insTCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCAC CACAACATCCACCACCACCATCACCACCACCATCACCATCACCACCACCT CCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCT CCACCATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACC ACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACATCCAC CACCACCATCACCACCACCACCACCACCTCCTCCACCATCACCACCTCCT CCACCATCACCACCATCACCTCCACCACCACCACCTCCTCCACCATCACC ACCTCCTCCACCATCACCACCTCCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89635202	C C	CCCTTCCT others(500): Show CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCCCTTTCCCCTTCCTTCCTTTTCCCCTTCCTTCCCTTTCCCTT CCTTTCCTTTCCTTCCTTCTCCTTTCCCTTCTTCTCCTTTCCCTTCCTTC TCCTTTCCCCTTCCTTCCCTTCCTCCTTCCTTCTCCTTTCCCTTCCTTCC CTTCCTTCTTCTCCTTTCCCTTCCTTCCCTTTCCTTCCCCTTCCTTCCCT CTCCTTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCGTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTCCTTCTCCTTTCCC TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTCCT TCTCCTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	241	0.0041	507	c.105 others(522): Show c.105-704_105-703insTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCTTTTCCCC TTCCTTCCCTTTCCCTTCCTTTCCTTTCCTTCCTTCTCCTTTCCCTTCTT CTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTCCTCCTTCCTTC TCCTTTCCCTTCCTTCCCTTCCTTCTTCTCCTTTCCCTTCCTTCCCTTTC CTTCCCCTTCCTTCCCTCTCCTTTTCCCCTTCCTTCCCTTTCCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCGTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTCCTTCTCCTTTCCCTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EML1_chr14_99788413_99947060	99928006	A A	AGGTGGTG others(500): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGG TGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0139 a0002c0001t0002g0139	1	175	0.0057	507	c.190 others(526): Show c.1909+7163_1909+7164insATGGTGGTGGTGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTG GTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(500): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATATAAGTACATATAAATATAT ATACATAAATATATAAATATATAAATATATAAATATATAAATACATAATA TATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAAA AATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATATA CACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAAA TATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03491.hp2 HG03017.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0301 a0001c0001t0001g0302	2	13	0.1538	507	c.617 others(524): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATA TTTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTT TTATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTT TATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTT ATATATTTATATATTTATATATTTATGTATATATATTTATATGTACTTAT ATATATTTATATATTTATATATTTATGTATTTATATATTTTTATATATTT ATATATTTATATATTTATATATATTTATATATTTATATATTTATATATAT TTATATATATTTATATATTTATATATTTTTATATATTTATATATTTTTAT ATATTTATATTTATATATTTATATATTTATATATTTATATATTATATATT TATATTTATATATGTATATATTTTTATATATTTTTATTTATATATTTATA TATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FMN2_chr1_240086883_240480187	240184919	G G	GGGTGCCC others(500): Show GGGTGCCCGTTACAGTGTCGGCTCCAGGAGGGACCGTGTCGCCCCGGCTT CTCTTTCTCCCTCCGTATACCTTCCCCCTTCTCTTTCTCCCTCCTGATAC CTTCCTTCCCTTACTCTTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCCTTCTCTTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCC TATACCTTCCCCTGTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0089 a0002c0089	a0002c0089t0002 a0002c0089t0002	a0002c0089t0002g0090 a0002c0089t0002g0090	1	171	0.0058	507	c.193 others(526): Show c.1931-3288_1931-3287insGGTGCCCGTTACAGTGTCGGCTCCAG GAGGGACCGTGTCGCCCCGGCTTCTCTTTCTCCCTCCGTATACCTTCCCC CTTCTCTTTCTCCCTCCTGATACCTTCCTTCCCTTACTCTTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCT TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CTTCTCTTTCTCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCCTATACCTTCCCCTGTCTCTTTCTCCCT CCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCCTTCTCTTTCTCCCTCCTATACCT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17			chr1	TogoVar
FOXN3_chr14_89151177_89422233	89386685	C C	CGGAAGCG others(500): Show CGGAAGCGCCCTGTTCAACTAAGCACTCTACTCTCAGTTTACTGCTAAAT CCACCTTCGACCCTTAAGTTTCATAAGGGCTATCGTAGTTTTCTGGGGTA GAAAATGTAGCCCATTTCTTGCCACCTCATGGGCTACACCTTGACCTAAC GTCTTTACGTGGGTACTTGCGCTTACTTTGTAGCCTTCATCAGGGTTTGC TGAAGATGGCGGTATATAGGCTGAGCAAGAGGTGGTGAGGTTGATCGGGG TTTATCGATTACAGAACAGGCTCCTCTAGAGGGATATGAAGCACCGCCAG GTCCTTTGAGTTTTAAGCTGTGGCTCGTAGTGTTCTGGCGAGCAGTTTTG TTGATTTAACTGTTGAGGTTTAGGGCTAAGCATAGTGGGGTATCTAATCC CAGTTTGGGTCTTAGCTATTGTGTGTTCAGATATGTTAAAGCCACTTTCG TAGTCTATTTTGTGTCAACTGGAGTTTTTTACAACTCAGGTGAGTTTTAG CTTTATTG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	228	0.0044	507	c.543 others(526): Show c.543+25248_543+25249insCAATAAAGCTAAAACTCACCTGAGTT GTAAAAAACTCCAGTTGACACAAAATAGACTACGAAAGTGGCTTTAACAT ATCTGAACACACAATAGCTAAGACCCAAACTGGGATTAGATACCCCACTA TGCTTAGCCCTAAACCTCAACAGTTAAATCAACAAAACTGCTCGCCAGAA CACTACGAGCCACAGCTTAAAACTCAAAGGACCTGGCGGTGCTTCATATC CCTCTAGAGGAGCCTGTTCTGTAATCGATAAACCCCGATCAACCTCACCA CCTCTTGCTCAGCCTATATACCGCCATCTTCAGCAAACCCTGATGAAGGC TACAAAGTAAGCGCAAGTACCCACGTAAAGACGTTAGGTCAAGGTGTAGC CCATGAGGTGGCAAGAAATGGGCTACATTTTCTACCCCAGAAAACTACGA TAGCCCTTATGAAACTTAAGGGTCGAAGGTGGATTTAGCAGTAAACTGAG AGTAGAGTGCTTAGTTGAACAGGGCGCTTCC	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(500): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGA GACGGAGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01981.hp1 HG02074.hp1 others(2): Show HG01884.hp2 HG01981.hp1 HG02074.hp1 HG02647.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0283 a0001c0002t0001g0051 a0001c0002t0001g0276 others(2): Show a0001c0001t0001g0283 a0001c0002t0001g0051 a0001c0002t0001g0276 a0001c0002t0001g0375 a0001c0009t0001g0264	5	92	0.0543	507	c.146 others(524): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGG AGCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(500): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGA GACGGAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00673.hp2 others(22): Show HG00323.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01175.hp2 HG01361.hp1 HG01993.hp2 HG02004.hp1 HG02148.hp2 HG02735.hp1 HG02735.hp2 HG03239.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 NA18940.hp2 NA18954.hp1 NA19064.hp2 NA19074.hp2 NA19085.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0087 a0001c0001t0001g0206 a0001c0001t0001g0212 others(22): Show a0001c0001t0001g0087 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0239 a0001c0001t0001g0352 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0393 a0001c0001t0001g0403 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0002t0001g0031 a0001c0002t0001g0292 a0001c0002t0001g0383 a0001c0002t0001g0389 a0001c0002t0001g0394 a0001c0003t0001g0032 a0001c0003t0001g0076	25	112	0.2232	507	c.146 others(524): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGG AGCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(500): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTATATATATATATTTTATACATATAAATATATA TTATAAATATATATTTATACATATAAATATATATTATAAATATATATTAT AAATATATATTTATACATATAAATATATATTATAAATATATATATTTATA TTTATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATATATAAATATATATATTTATATTTATTTCTATATATAAA TATATATATTTATATATAAATATATATTTATATATATAAATATATATATT TATATTTATAAATATATATATTTATATATATTTATATTTATATATATTTA TATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0171 a0001c0002t0042g0171	1	133	0.0075	507	c.-97 others(524): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTATATATATATATTTTATACATATAAATA TATATTATAAATATATATTTATACATATAAATATATATTATAAATATATA TTATAAATATATATTTATACATATAAATATATATTATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATTTATTTATATATATATAAA TATATATATTTATATATATAAATATATATATTTATATTTATTTCTATATA TAAATATATATATTTATATATAAATATATATTTATATATATAAATATATA TATTTATATTTATAAATATATATATTTATATATATTTATATTTATATATA TTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATAAATA others(500): Show TATAAATATATATATTTATATTTATTTATATATATATAAATATATATATT TATATTTATATTTATATATTTATATTTATATATATAAATATATATATTTA TATTATTTATATATATAAATATATATATTATATATATTTATATATATAAA TATATATATTATATATAAATATATATTATGTATATTTATATATAAATATA TATATTTATATATATAAAATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATAAATATATATTTATATATAAATATAT ATATAAATATATATATTTATATATAAATATATATATTTATATATATATTT ATATATAAATATATATATTTATATATAAATATATATATTTATATTACAAA TATATATATTTATATATATATTATATTTATATATATTATATTTATATATA TATATAAATATATATTTATGTATATTATATATAAATATAAATATATATTT ATATATAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	95	0.0105	507	c.-97 others(524): Show c.-97-2616_-97-2615insAATATATATATTTATATTTATTTATATA TATATAAATATATATATTTATATTTATATTTATATATTTATATTTATATA TATAAATATATATATTTATATTATTTATATATATAAATATATATATTATA TATATTTATATATATAAATATATATATTATATATAAATATATATTATGTA TATTTATATATAAATATATATATTTATATATATAAAATATATATATTTAT ATATAAATATATATATTTATATATAAATATATATATTTATATAAATATAT ATTTATATATAAATATATATATAAATATATATATTTATATATAAATATAT ATATTTATATATATATTTATATATAAATATATATATTTATATATAAATAT ATATATTTATATTACAAATATATATATTTATATATATATTATATTTATAT ATATTATATTTATATATATATATAAATATATATTTATGTATATTATATAT AAATATAAATATATATTTATATATAAATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPRIN1_chr5_176590802_176615156	176591689	A A	ATGATGGT others(500): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGAT GACGATGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	253	0.0040	507	c.51 others(518): Show c.5118_*5119insCCATCACAACCATCACCATCACCTCAACACCAAC ACCACCACCACCACCACCATCGTCATCATCACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAA CACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACAC CAACACCATCATCACCACCATCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4112		chr5	TogoVar
ICA1_chr7_8108184_8267167	8152787	A A	ACCTCCTC others(500): Show ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCAT CACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCA CCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAAC ACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCAT CTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCA CTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACC ACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCAC CATCACCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02965.hp1 others(1): Show HG02717.hp1 HG02723.hp2 HG02965.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0104 a0001c0001t0003g0093 a0001c0001t0003g0213 others(1): Show a0001c0001t0002g0104 a0001c0001t0003g0093 a0001c0001t0003g0213 a0001c0002t0002g0255	4	256	0.0156	507	c.804 others(524): Show c.804+4328_804+4329insAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGG AGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATG GTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGA GGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGG TGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAG GAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGT AGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGA TAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTG ATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGT TGTGGTGGTGGTGGTGATGGTGGAGGAGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(500): Show TCCACCACCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCAC TACCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCA CTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCATC TCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCAC CACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCA CCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACC ACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTC CTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTA CCCCCACCACTATCACCATCACCTCCTCCACCATCACCACCACCACCACC ACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCTCCTC CACCATCA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	149	0.0067	507	c.804 others(524): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGTGGTGATGG TGGAGGAGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATG GTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGG TGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGG GTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGT GATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(500): Show CCTCCTCCCCCCACCCACCCCCTCCCCTCTCCTCCCCCCAACCACCCTGT CCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	11	0.0909	507	c.10- others(524): Show c.10-16129_10-16128insCCCCACCCACCCCCTCCCCTCTCCTCCC CCCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTC CCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(500): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03688.hp2 HG03209.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0221 a0001c0001t0001g0066 a0001c0001t0001g0221	2	12	0.1667	507	c.10- others(524): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTC CCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(500): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCC CACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 NA20129.hp2 HG02717.hp1 HG02723.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0002t0001g0116 a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0002t0001g0116	3	13	0.2308	507	c.10- others(524): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(500): Show CCTCCTCCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGT CCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	11	0.0909	507	c.10- others(524): Show c.10-16129_10-16128insCCCCCACCCACCCCTCCCCTCTCCTCCC CCCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTC CCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(500): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAG GGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTC AGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGG GAGGCGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0192 a0002c0001t0003g0192	1	100	0.0100	507	c.623 others(524): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGG GGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CCTCTCTC others(500): Show CCTCTCTCTCTCCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCC TCCCCCTCTCTCTCCCCCCTCCCCCCTCTCTGTCCCCCTCCCCCCCTCTC TCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCCTCTCTCTCCCCCT CCCCTCCCCCCTCTCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCC CCTCCCCCTCCCCTCCCCCTCCCCCCCATCCCCCTCCCCCTCATCCCCCC TCCCCCTCCTTCCCCTCTCCCCCTCCCCTCCTTCCCTCTCTCCCCCCCCT CCTTCCCCTCTCTCTCTCTCCCCCCCCCTTCCCTCTCTCTCCCCCCCCCT CCTTCCCTCTCTCTCCCCCCCCTCCTTCCTCTCTCTCTCTCTCCCCCCTC CTTCCCTCTGTCTCTCTCCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCT TCCCCCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0018 a0002c0005t0018	a0002c0005t0018g0139 a0002c0005t0018g0139	1	56	0.0179	507	c.11 others(528): Show c.1103+4093_*1103+4094insCTCTCTCTCTCCCCCCTCCCCCTC CTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCCTCCCCC CTCTCTGTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCC CCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCT CCCCTCCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCTCCCCCCT CTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCTCCCCCTCCCCC CCATCCCCCTCCCCCTCATCCCCCCTCCCCCTCCTTCCCCTCTCCCCCTC CCCTCCTTCCCTCTCTCCCCCCCCTCCTTCCCCTCTCTCTCTCTCCCCCC CCCTTCCCTCTCTCTCCCCCCCCCTCCTTCCCTCTCTCTCCCCCCCCTCC TTCCTCTCTCTCTCTCTCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCC TTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23			chr10	TogoVar

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