Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
TH_chr11_2158929_2176815	2161664	C C	CACCCCTA others(391): Show CACCCCTATCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTATCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	2	347	0.0058	398	c.25 others(409): Show c.2568_*2569insCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGG GACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGG ATAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGATAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2264		chr11	TogoVar
TMPRSS9_chr19_2355265_2431261	2377590	T T	TCCTCTCC others(391): Show TCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCT CTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCC TCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTC CCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCC CCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	77	0.0130	398	c.-25 others(417): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTC TCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCC CCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTC GCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTC CCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGT CCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTC TCCCCTTCCCTCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930772	A A	AGGGGTTA others(391): Show AGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGG GATTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAG GCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGT CAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	114	0.0088	398	c.48 others(409): Show c.4818_*4819insCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTG GTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCC CTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGC CTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAATCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCTG GCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4597		chr11	TogoVar
TPO_chr2_1408463_1548673	1529641	C C	CCCCGCTA others(391): Show CCCCGCTATGTGCAACCTCATCAAATTTTCCCACTGTGTGCAACTTCCCT AAGTCGTCCAACTGTTCAACCTGCCCAAATCCCTCCAGCTGTGTGCAACC TCCCCAAATCCCCCCCACCCTGTGCAACCTCACAAAATTACACCCACTGC AACCTCCTCAAATCGTTCCCACTTTGTGCAAACTCCTCAAACCCCCCCCC ACAGTGTGCAACCTCCCTAAATCCCCACCACTCTGTGCAACCTCCCCAAA TCCCCCCACACTGTGTGCAACTACGCCAAATCGCGCCACTGTGTGCAACC TCCACAAATCCCGCCCACTCTGTGAAACGTCCCCAAATCCCCCCACTCTG TGCAACCTCCCAAAATCCCCCACACAGTGTGCAACCTCCTCAATTCCCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19058.hp1 HG03239.hp1 NA19058.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0007 a0003c0003 a0004c0007	a0003c0003t0005 a0004c0007t0004 a0003c0003t0005 a0004c0007t0004	a0003c0003t0005g0082 a0004c0007t0004g0076 a0003c0003t0005g0082 a0004c0007t0004g0076	2	126	0.0159	398	c.261 others(419): Show c.2619-10953_2619-10952insCCCGCTATGTGCAACCTCATCAAA TTTTCCCACTGTGTGCAACTTCCCTAAGTCGTCCAACTGTTCAACCTGCC CAAATCCCTCCAGCTGTGTGCAACCTCCCCAAATCCCCCCCACCCTGTGC AACCTCACAAAATTACACCCACTGCAACCTCCTCAAATCGTTCCCACTTT GTGCAAACTCCTCAAACCCCCCCCCACAGTGTGCAACCTCCCTAAATCCC CACCACTCTGTGCAACCTCCCCAAATCCCCCCACACTGTGTGCAACTACG CCAAATCGCGCCACTGTGTGCAACCTCCACAAATCCCGCCCACTCTGTGA AACGTCCCCAAATCCCCCCACTCTGTGCAACCTCCCAAAATCCCCCACAC AGTGTGCAACCTCCTCAATTCCCT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(391): Show TTATATATAAAAATTATATATATATTATATATATATAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATTATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	149	0.0067	398	c.28 others(409): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA TAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATTATATATAAAAA TTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028613	G G	GTCCTGAA others(391): Show GTCCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTG AAGACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACC CCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACA TACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACT CGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAA GACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCC CGTCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCAC ACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02280.hp2 HG03669.hp2 HG00733.hp2 HG02280.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0148 a0003c0003t0001g0154 a0003c0003t0001g0179 a0003c0003t0001g0148 a0003c0003t0001g0154 a0003c0003t0001g0179	3	218	0.0138	398	c.225 others(417): Show c.2251+1816_2251+1817insTGGTGTGATGGGGGTCTTTACGAGGG TATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTG GGGGTCTTTAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAG GATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGT GTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGATGGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGACGGGGGTCTTTACG AGTGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CCACACCC others(391): Show CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	229	0.0044	398	c.35 others(417): Show c.35+21584_*35+21585insACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870431	C C	CCATACAC others(391): Show CCATACACACCACACCCCACACACACCCCACACACACCACACACCCCACA CACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACAAACCACACACCCTACACACCCCACACACACCACACACCA CACACACACCACACCCCATACACACCACACCCCACACACACCACACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACAA ACCACACACCCTACACACCCCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	320	0.0031	398	c.35 others(417): Show c.35+21698_*35+21699insCATACACACCACACCCCACACACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACAAACCACACACCCTACA CACCCCACACACACCACACACCACACACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACAC ACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACAC ACCACACACCCCACACACACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VCX3A_chrX_6528618_6540118	6533128	C C	CCCTCCCT others(391): Show CCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCC TCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCTCT TCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACTTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0005 a0009c0014t0005	a0009c0014t0005g0038 a0009c0014t0005g0038	1	65	0.0154	398	c.61 others(407): Show c.616_*617insAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAAG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		489		chrX	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(391): Show TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT CGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC ATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCTG ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCG ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01175.hp1 others(1): Show HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0037 a0001c0001t0134 a0001c0006t0043 a0001c0001t0037 a0001c0001t0134 a0001c0006t0043	a0001c0001t0037g0126 a0001c0001t0037g0162 a0001c0001t0134g0165 others(1): Show a0001c0001t0037g0126 a0001c0001t0037g0162 a0001c0001t0134g0165 a0001c0006t0043g0001	4	85	0.0471	398	c.87 others(409): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAG CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG ACTGGTGAGGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8794		chr17	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(391): Show TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT CGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC ATATCAAATCCTGTCTCATCCCTCACTAGTCACATTTCAAATCTTGGCTG ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCG ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0130 a0001c0001t0118 a0001c0001t0130	a0001c0001t0118g0160 a0001c0001t0130g0161 a0001c0001t0118g0160 a0001c0001t0130g0161	2	83	0.0241	398	c.87 others(409): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGAAATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAG CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG ACTGGTGAGGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8794		chr17	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(391): Show TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA CATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGGCT CGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC ATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCTG ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCG ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG02129.hp1 HG02132.hp1 others(9): Show HG00621.hp1 HG02129.hp1 HG02132.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp1 NA18983.hp1 NA18986.hp1 NA19090.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0015 a0002c0003 others(1): Show a0001c0001 a0001c0015 a0002c0003 a0006c0013	a0001c0001t0036 a0001c0015t0120 a0002c0003t0019 others(5): Show a0001c0001t0036 a0001c0015t0120 a0002c0003t0019 a0002c0003t0040 a0002c0003t0129 a0002c0003t0132 a0002c0003t0138 a0006c0013t0125	a0001c0001t0036g0114 a0001c0001t0036g0204 a0001c0015t0120g0149 others(9): Show a0001c0001t0036g0114 a0001c0001t0036g0204 a0001c0015t0120g0149 a0002c0003t0019g0172 a0002c0003t0019g0214 a0002c0003t0019g0231 a0002c0003t0040g0115 a0002c0003t0040g0168 a0002c0003t0129g0216 a0002c0003t0132g0167 a0002c0003t0138g0170 a0006c0013t0125g0163	12	93	0.1290	398	c.87 others(409): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG ACTGGTGAGGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8794		chr17	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(391): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCCCCTC CCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCC TCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCC CCTCCTCTCCCCCTCTCCCCCTCACCCTCTCCCCCTCCCCCTCTCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0027 a0003c0003t0026g0027	1	33	0.0303	398	c.53- others(411): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTC CCCCTCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCC CGTCCCCCTCCTCTCCCCCTCTCCCCCTCACCCTCTCCCCCTCCCCCTCT CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCC CCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZC3H3_chr8_143432659_143546447	143498699	G G	GGGGGCAG others(391): Show GGGGGCAGAGGGGCACAGGGCGGGGCAGAGGGGTACAGGGCGGGGCAGAG GGGTACAGGGCGGGGAAGAGGGGCACAGGGCAGGGCGGAGGGGCACAGGG CAGGGCAGGGGGCACAGGGCAGGGCGGAGGGGCACAGGGCGGGGCGGAGG GGCACAGGGCGGGGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGC GGGGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCGGGGCGGAGG GGCACAGGGCAGGGCAGGGGGTACAAGACGGGGCGGAGGGGCACAGGGCG GGGCGGAGGGGCACAGGGCGGGGCGGAGGGGCACAGGGCGGGGCGGAGGG GTACAGGGCGGGGCAGAGGGGCACAGGACGGGGCAGAGGGGCACAGGGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0159 a0007c0008t0001g0159	1	350	0.0029	398	c.171 others(417): Show c.1715+9046_1715+9047insGCCCTGTGCCCCTCTGCCCCGTCCTG TGCCCCTCTGCCCCGCCCTGTACCCCTCCGCCCCGCCCTGTGCCCCTCCG CCCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCCCGTCTTG TACCCCCTGCCCTGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGC CCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCCCGCCCTGT GCCCCTCCGCCCCGCCCTGTGCCCCTCCGCCCCGCCCTGTGCCCCTCCGC CCTGCCCTGTGCCCCCTGCCCTGCCCTGTGCCCCTCCGCCCTGCCCTGTG CCCCTCTTCCCCGCCCTGTACCCCTCTGCCCCGCCCTGTACCCCTCTGCC CCGCCCTGTGCCCCTCTGCCCC	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZFPM1_chr16_88448280_88542031	88461004	G G	GGACCGAG others(391): Show GGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGG GAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGA GGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGAC CAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTG GTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGGTGGGGCGGG AGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGC AGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGG GATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	218	0.0046	398	c.40+ others(413): Show c.40+7336_40+7337insCGGGGCGGGAGGCCTGGTGAGGACCGAGGG GAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGT GAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCT GGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCG GGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGG TGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGA CCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGA GGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGC CTGGTGATGACCGAGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF543_chr19_57315472_57335770	57319209	T T	TATACATA others(391): Show TATACATACATATACATACATATACATACATATACATACATATACATACA TATATACATATACATATATATACATATACATACATATACATACATATATA CATATACATACATATACATACATATATACATATACATACATATATATATA CATATATATACATATACATACATATATACATATATATACATATACATACA TATATACATATATATACATATATACATATACATACATATATATACATATA CATACATATATATACATATATATACATATACATACATATATATACATATA TATACATATACATACATATATATATATATATACATATACATACATATATA CATATATATACATATACATACATATATACATATATATACATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0031 a0004c0004t0031	a0004c0004t0031g0129 a0004c0004t0031g0129	1	455	0.0022	398	c.-16 others(409): Show c.-1645_-1644insATACATACATATACATACATATACATACATATAC ATACATATACATACATATATACATATACATATATATACATATACATACAT ATACATACATATATACATATACATACATATACATACATATATACATATAC ATACATATATATATACATATATATACATATACATACATATATACATATAT ATACATATACATACATATATACATATATATACATATATACATATACATAC ATATATATACATATACATACATATATATACATATATATACATATACATAC ATATATATACATATATATACATATACATACATATATATATATATATACAT ATACATACATATATACATATATATACATATACATACATATATACATATAT ATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1262		chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393240	T T	TTATATAT others(391): Show TTATATATATATATTTATATATATATATAAATTTATATATATATAAATAT ATATATATTAATATATATATATTTATATATATATAAATATATATATATTT ATATATATATATATATTTATATATATATATTTATATATATATATTTATAT ATATAAATATATATATAAATATATATATAAATATATATAAATAAATATAT ATTTATATATATATAAATATATATATATTTATATATATAAATATATATAT TTATATATATAAATATATATATATTTATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATATATATAAATATATATATATTTATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	397	0.0025	398	c.532 others(413): Show c.532+408_532+409insTATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATAAATATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATATTTATATATATAAATATATATATTTATATATATAAATATATATA TATTTATATATATATAAATATATATTTATTTATATATATTTATATATATA TTTATATATATATTTATATATATAAATATATATATATAAATATATATATA TAAATATATATATATATATAAATATATATATATTTATATATATATAAATA TATATATATTAATATATATATATTTATATATATATAAATTTATATATATA TATAAATATATATATATA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(392): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAG ACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACC AAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAA GGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGG CTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTG ACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0186 a0003c0008t0001g0186	1	200	0.0050	399	c.535 others(416): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGGTCA GCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCT TTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTC TCGGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGG GGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAGGG GGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTCGGGGGGGGT CAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277913	C C	CGAGACCA others(392): Show CGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCCCCCGCGA GACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCCCGAGACC AAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGC TGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCC CCCCCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGCTGACCCCC CCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	232	0.0043	399	c.535 others(416): Show c.535-4850_535-4849insCGGGGGGGTCAGCCTTTGGTCTCGCGGG GGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGG GGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGT CAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGC CTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTG GTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCT CGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTCGG GGGGGGTCAGCCTTTGGTCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277913	C C	CGAGACCA others(392): Show CGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCCCCCGCGA GACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCCCGAGACC AAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAG GCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCT GACCCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCC CCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCC CCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0004 a0016c0027t0004	a0016c0027t0004g0041 a0016c0027t0004g0041	1	232	0.0043	399	c.535 others(416): Show c.535-4850_535-4849insCGGGGGGGTCAGCCTTTGGTCTCGCGGG GGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGG GTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGT CAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGC CTTTGGTCTCGCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTG GTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCT CGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTCGG GGGGGGTCAGCCTTTGGTCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277913	C C	CGAGACCA others(392): Show CGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCCCCCGCGA GACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCCCGAGACC AAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAG GCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCT GACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGAC CCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCC CCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCC CCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG04199.hp2 HG02155.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0001c0001t0001 a0002c0003t0004	a0001c0001t0001g0007 a0002c0003t0004g0252 a0001c0001t0001g0007 a0002c0003t0004g0252	2	233	0.0086	399	c.535 others(416): Show c.535-4850_535-4849insCGGGGGGGTCAGCCTTTGGTCTCGCGGG GGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGG GTCAGCCTTTGGTCTCGGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGG TCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTG GTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCT CGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTCGG GGGGGGTCAGCCTTTGGTCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(392): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGGA GAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGA GGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGG GGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGA GGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	30	0.0333	399	c.51 others(410): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCCCT CTCCCCCTCCCCCCTCTCCCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCC CTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCC TCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCC CTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCC TCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(392): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	123	0.0081	399	c.-1- others(414): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(392): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTT CTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	123	0.0081	399	c.-1- others(414): Show c.-1-5710_-1-5709insGCAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(392): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	123	0.0081	399	c.-1- others(414): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(392): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	123	0.0081	399	c.-1- others(414): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRV1_chr5_90553797_91169437	90826603	T T	TAAGAGAT others(392): Show TAAGAGATGGTGAGTATTATGAAATTGGAAACCATCATTCTCAGTAAACT ATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGA ATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGG GGAATGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATA CCTAATGCTAGATGAAACGTTAGTGGGTGCAGCGCACCAGCATGGCACAT GTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTT AGAGTATAATAAAAAAAAAACATTAAAAATAAAAAATAAAAAATAAAAAA ATAAAAAAAAAAGCAAGACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0024 a0024	a0024c0099 a0024c0099	a0024c0099t0001 a0024c0099t0001	a0024c0099t0001g0001 a0024c0099t0001g0001	1	156	0.0064	399	c.163 others(420): Show c.16369-2324_16369-2323insATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGAATGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGG GAGATATACCTAATGCTAGATGAAACGTTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAAACATTAAAAATAAAAAATAAAAA ATAAAAAAATAAAAAAAAAAGCAAGACAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAGATGGTGAGTATT	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	76/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	344420	G G	GTGTGTGT others(392): Show GTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAG GCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAG GCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAG GCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGC GGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCT GTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTG TGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGT GTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	119	0.0084	399	c.62+ others(412): Show c.62+456_62+457insTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTG GGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGT GGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGT GGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTG TGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTG TGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGT GCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGG GGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGC TGTGTGTGTGTGGGTGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10			chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144531288	C C	CAGCAGAA others(392): Show CAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGG AGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGC AGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	244	0.0041	399	c.298 others(416): Show c.2981-418_2981-417insATGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCC CTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTG CCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGC TGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCT GCTGCTCGCTGCCTTTCTGCT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1860400	C C	CTCCTCTC others(392): Show CTCCTCTCCATGCCCCCGATGTGGCCTGTGGTTCCGTAGAGTCCGGGCCT AGCCTTCCCCCCTCCTCCTCCTCTCCATGCCCCCGATGTGGCCTGTGGTT CCGTAGAGTCCGGGCCTAGCCTTCCCCCCTCCTCCTCCTCTCCATGCCCC GGATGTGGCCTGTGGTTCCGTAGAGTCCGGGCCTGACCTTCCCCCCTCCT CCTCTCCATGCCCCCAATGTGGCCTGTGGTTCCATAGAGTCCGGGCCTGA CCTTCCCCCCTCCTCCTCCTCTCCATGCCCCTGATGTGGCCTGTGGTTCC GTAGAGTCCGGGCCTAACCTTCCCCCGTCCTCCTCCTCTCCATGCCCCTG ATGTGGGCTGTGGTTCCGTAGAGTCCGGGCCTAACCTTCCCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0051 a0001c0009t0051	a0001c0009t0051g0274 a0001c0009t0051g0274	1	345	0.0029	399	c.481 others(414): Show c.481+258_481+259insCGGGCCTAGCCTTCCCCCCTCCTCCTCCTC TCCATGCCCCCGATGTGGCCTGTGGTTCCGTAGAGTCCGGGCCTAGCCTT CCCCCCTCCTCCTCCTCTCCATGCCCCGGATGTGGCCTGTGGTTCCGTAG AGTCCGGGCCTGACCTTCCCCCCTCCTCCTCTCCATGCCCCCAATGTGGC CTGTGGTTCCATAGAGTCCGGGCCTGACCTTCCCCCCTCCTCCTCCTCTC CATGCCCCTGATGTGGCCTGTGGTTCCGTAGAGTCCGGGCCTAACCTTCC CCCGTCCTCCTCCTCTCCATGCCCCTGATGTGGGCTGTGGTTCCGTAGAG TCCGGGCCTAACCTTCCCCCCTCCTCTTCCTCTCCATGCCCCCGATGTGG CCTGTGGTTCCGTAGAGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(392): Show GGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGT GTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACT TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTGCCT CCCGGACGGAGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCGGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCG AGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0061 a0001c0002t0004g0061	1	13	0.0769	399	c.204 others(420): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGG AGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGTCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCTCCGTCCGGGAGGCAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCAGCC GCCCCTACTGGGAAGTGAGGAGCCACACTGCCCGGCCAGCCGCCCTGTCC GGGAGGGAGGTGGGGGGTCAGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ATP8A2_chr13_25366974_26030851	25731246	A A	AAGGAAGG others(392): Show AAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAGAAAGAGAGAAA GAGAAAGAAGAAAGAAGGAAAGAGAGAGAGAGAGGAAGGAAGGAAGGAAG CGGGAGGAAGAAAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAAGACCGG AAGGAGAGAGAAAGAGAGAAAGGGAAAGAAGAAAGAAGGAAAGAGAGAGA GAGGAAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAAGAGAGAA AGAGAAAGAAGAAAGAAGGAAAGAGAGAGAGAGGAAGGAAGGAAGGAAGC GGGAGGAAGAAAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAAGACCGGA AGGAGAGAGAAAGAGAGAAAGGGAAAGAAGAAAGAAGGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0034 a0001c0014t0034	a0001c0014t0034g0064 a0001c0014t0034g0064	1	110	0.0091	399	c.238 others(420): Show c.2384+31948_2384+31949insAAGAGAAAGAAGAAAGAAGGAAAG AGAGAGAGAGAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAGAA AGAGAGAGAGAAAGAAAGAAAAGACCGGAAGGAGAGAGAAAGAGAGAAAG GGAAAGAAGAAAGAAGGAAAGAGAGAGAGAGGAAGGAAGGAAGGAAGGAA GCGGGAGGAAGAAAAAGAAAAGAGAGAAAGAGAAAGAAGAAAGAAGGAAA GAGAGAGAGAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAGAAA GAGAGAGAGAAAGAAAGAAAAGACCGGAAGGAGAGAGAAAGAGAGAAAGG GAAAGAAGAAAGAAGGAAAGAGAGAGAGAGGAAGGAAGGAAGGAAGCGGG AGGAAGAAAAAGAAAGAAAGAGAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
B4GALNT4_chr11_364499_387117	374967	A A	AAGGGAGG others(392): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0154 a0003c0006t0001g0154	1	157	0.0064	399	c.784 others(414): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375095	A A	AAGGGAGG others(392): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03225.hp2 HG01433.hp1 HG03225.hp2	a0003 a0008 a0003 a0008	a0003c0039 a0008c0013 a0003c0039 a0008c0013	a0003c0039t0001 a0008c0013t0001 a0003c0039t0001 a0008c0013t0001	a0003c0039t0001g0058 a0008c0013t0001g0057 a0003c0039t0001g0058 a0008c0013t0001g0057	2	176	0.0114	399	c.784 others(414): Show c.784-355_784-354insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(392): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGT GATGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGG TGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTG GTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGAT GGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp2 others(47): Show HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00735.hp2 HG01106.hp1 HG01167.hp2 HG02015.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG06807.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18962.hp1 NA18969.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA19010.hp2 NA19011.hp1 NA19068.hp2 NA19075.hp2 NA19087.hp2 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0003g0052 a0001c0001t0006g0010 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0011g0197 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0011g0201 a0001c0001t0011g0202 a0001c0001t0017g0118 a0001c0001t0018g0200	50	104	0.4808	399	c.21 others(414): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCACCACCATCACCACCATCATCACCATCA CCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCATCACCACCATCAT CACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCACCA CCACCATCACCACCATCACCATCACCACCACCACCATCACCACCATCATC ACCATCACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792828	G G	GTGATGGT others(392): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGT GATGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGG TGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTG GTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGAT GGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02922.hp1 HG02486.hp2 HG02559.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116	3	287	0.0105	399	c.21 others(414): Show c.21-477_*21-476insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCACCACCATCACCACCATCATCACCATCA CCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCATCACCACCATCAT CACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCACCA CCACCATCACCACCATCACCATCACCACCACCACCATCACCACCATCATC ACCATCACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(392): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGG CTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0298 a0008c0022t0001g0298	1	214	0.0047	399	c.144 others(416): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C8orf82_chr8_144520733_144534111	144531288	C C	CAGCAGAA others(392): Show CAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGG AGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGC AGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	399	c.-23 others(410): Show c.-2373_-2372insATGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCC CCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTA GCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTG CTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT CGCTGCCTTTCTGCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2178		chr8	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(392): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATAATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 NA18951.hp2 others(11): Show HG00438.hp2 HG00621.hp1 NA18951.hp2 NA18956.hp2 NA18961.hp1 NA18971.hp1 NA18982.hp1 NA18990.hp1 NA18999.hp2 NA19004.hp1 NA19012.hp2 NA19063.hp1 NA19086.hp1 NA19087.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0008c0008t0001 a0001c0001t0001 a0001c0001t0002 a0008c0008t0001	a0001c0001t0001g0029 a0001c0001t0001g0122 a0001c0001t0001g0127 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0002g0199 a0001c0001t0002g0216 a0001c0001t0002g0254 a0008c0008t0001g0072	14	105	0.1333	399	c.154 others(418): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATAATATATAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATAATATATATTATATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATAATATATATTTTAT AAAATATATATTATATTATATATAATATATATTATATAAAATATATATTA TATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(392): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19064.hp1 NA18940.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0120 a0001c0001t0001g0083 a0001c0001t0001g0120	2	93	0.0215	399	c.154 others(418): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATAATATATATTATATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATAATATATATTTTAT AAAATATATATTATATTATATATAATATATATTATATAAAATATATATTA TATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(392): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0168 a0001c0001t0002g0188 a0001c0001t0001g0168 a0001c0001t0002g0188	2	93	0.0215	399	c.154 others(418): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATATAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATAATATATATTATATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATAATATATATTTTAT AAAATATATATTATATTATATATAATATATATTATATAAAATATATATTA TATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110906014	A A	ATATATTA others(392): Show ATATATTATATTATATATAATATATATTATATAAAATATATATTATATTA TATATAATATATATTATATAATATATATTATATTATATATAATATATATT ATATAAAATATATATTATATTATATAATATATATTATATAAAATATATAT TATATTATATATAATATATATTTTATAAAATATATATTATATTATATAAT ATATATTTTATAAAATATATATTATATTATATATTATATAAAATATATAT TATTAAAATATATATTATATTATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATAAAATATATATTATATTATTATAATA TATATTATATAATATAATATATATTATATATTATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	285	0.0035	399	c.154 others(418): Show c.1546+1223_1546+1224insTATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAATATATA TTATATTATATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTATATAAAATATATATTATATTATATATAATATATATTTTATA AAATATATATTATATTATATAATATATATTTTATAAAATATATATTATAT TATATATTATATAAAATATATATTATTAAAATATATATTATATTATATAA TATATATTATATAAAATATATATTATATTATATAATATATATTATATAAA ATATATATTATATTATTATAATATATATTATATAATATAATATATATTAT ATATTATAATATATAATATATAT	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CDC16_chr13_114229897_114277723	114231078	A A	AGGTGGGG others(392): Show AGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGG GAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGG CTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	319	0.0031	399	c.-40 others(410): Show c.-4007_-4006insGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGG GTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGG GCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGG AGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTG CTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3818		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231224	C C	CGGGTGGA others(392): Show CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCA TTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGA GTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA18974.hp2 HG02080.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0117 a0001c0001t0001g0001 a0001c0001t0001g0117	2	204	0.0098	399	c.-38 others(410): Show c.-3861_-3860insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGG AGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG GGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3672		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231224	C C	CGGGTGGA others(392): Show CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGTGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGC TGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCA TTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGA GTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	203	0.0049	399	c.-38 others(410): Show c.-3861_-3860insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGTGGGTGGAGTGCCC ATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGG AGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3672		chr13	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(392): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	12	0.0833	399	c.-45 others(420): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(392): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	12	0.0833	399	c.-45 others(420): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(392): Show CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGC AGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGG AGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGA GGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAGGG GAGGGAAGGGGAGGGAAGGGGAAGGGAAGGGGAGGGAAGGGAAGGGGAAG GGAAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19011.hp2 NA18942.hp2 NA19011.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0016 a0001c0002 a0007c0016	a0001c0002t0001 a0007c0016t0001 a0001c0002t0001 a0007c0016t0001	a0001c0002t0001g0130 a0007c0016t0001g0142 a0001c0002t0001g0130 a0007c0016t0001g0142	2	190	0.0105	399	c.637 others(414): Show c.637+150_637+151insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTTCCCTCCCCTTCCCTTC CCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCCTCCCCTTCCCC TCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTT CCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCC CCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCC AGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCC CTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCC CTCCCCTTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNST_chr1_246561456_246673595	246652786	C C	CAAGGTCA others(392): Show CAAGGTCAGGAGATGGAGACCATCCTGGCTGACTCGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCGGCGAATCATGAGGTCAGGAGATCGA GACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCACTTTGGGAGG CTGAGGCGGCGAATCATGAGGTCAGGAGATCGAGACCATCCTGGCTGACA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGT GGCGGGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGAATCAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	292	0.0034	399	c.183 others(418): Show c.1836+4749_1836+4750insAAGGTCAGGAGATGGAGACCATCCTG GCTGACTCGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTGGCGGGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGC GAATCATGAGGTCAGGAGATCGAGACCATCCTGGCTGACACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGAATCATGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCACTTT GGGAGGCTGAGGCGGCGAATCAT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	9/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246652866	T T	TGGTGGCG others(392): Show TGGTGGCGGGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGAA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTGACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGT AATCCCAGCACTTTGGGAGGCTGAGGCGGCGAATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCACTTTGGG AGGCTGAGGCGGCGAATCATGAGGTCAGGAGATCGAGACCATCCTGGCTG ACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	191	0.0105	399	c.183 others(418): Show c.1836+4846_1836+4847insATCCCAGCACTTTGGGAGGCTGAGGC GGCGAATCATGAGGTCAGGAGATCGAGACCATCCTGGCTGACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGC GCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGAATCATGAGGTCA GGAGATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCAC TTTGGGAGGCTGAGGCGGCGAATCATGAGGTCAGGAGATCGAGACCATCC TGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCAGGGTGGCGGGCGCCTGTA	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results