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
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(705): Show ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCTACACACACCACACACCCC ACACACACATCACACACCACACACACCACACACACCCCACACACACCACA CACACACATCACATACCACACACCCGACACACGCCACACACACACCACAC ACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACA CCACACACCCCACACACACCACACACACACACCACACACACATCACATAC CACACACAAACCACACACCCAACACACACATCACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACA CCACACACCCCACACACACACCACACACCCCACACACACATCACATACCA CACACAAACCACACACCCCACACACCCCACACACCACACACACACCACAC ACACATCACATACCACACACAAACCACACACCCTACACACACCACACACC CCACACACACCACACACCCGACACACGCCACACACACACCACACACCCCA CGCACACATCACATACCACACACAAACCACACACCCTACACACCCCACAC ACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	35	0.0286	712	c.35 others(731): Show c.35+22439_*35+22440insCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCTACACACACCACACACCCCAC ACACACATCACACACCACACACACCACACACACCCCACACACACCACACA CACACATCACATACCACACACCCGACACACGCCACACACACACCACACAC CCCACGCACACATCACATACCACACACAAACCACACACCCTACACACACC ACACACCCCACACACACCACACACACACACCACACACACATCACATACCA CACACAAACCACACACCCAACACACACATCACACACCACACACCCCACAC ACACATCACATACCACACACAAACCACACACCCCACACACACATCACATA CCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACACC ACACACCCCACACACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCCACACACCCCACACACCACACACACACCACACAC ACATCACATACCACACACAAACCACACACCCTACACACACCACACACCCC ACACACACCACACACCCGACACACGCCACACACACACCACACACCCCACG CACACATCACATACCACACACAAACCACACACCCTACACACCCCACACAC CCCACACACACCACACACCACACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCKL1_chr20_63934829_63961416	63948595	G G	GGGGATGT others(705): Show GGGGATGTGTGTGAGAGGGAGGGGGCGTGTGTGAAAGGGAGGGGCGTGTG TGAGGGAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGC GTGTGTGAGAGGGGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGG AGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGTAGGGGCGTGTGT GAGAGGGAGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGG CGTGTGTGAGAGGGAGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAG GGAGGGGGCGTGTGTGAGAGGTAGGGGCGTGTGTGAGGGGGGGGCGTGTG TGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGAGAGGGG CGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGTGAGGG AGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGAGTGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGGGAGGGAGGGGGC GTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGG GAGGGGCGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTG AGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGAGAGGGAGGGGG CGTGTGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	323	0.0031	712	c.114 others(729): Show c.114-1953_114-1952insTCCCCCTCACACGCCCCCTCCCTCTCAC ACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCC CTCTCACACACGCCCCTCCCTCTCACACGCCCCTCCCTCTCACACACGCC CCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCCCA CACGCCCCCTCCCTCTCACACACGCCCCCACTCTCACACACGCCCCTCCC TCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCACACACACGC CCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCTCTCTCACA CACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCCCCT CACACACGCCCCTACCTCTCACACACGCCCCCTCCCTCTCACACACGCCC CCTCCCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACA CACGCCCCCTCCCTCACACACGCCCCCTCCCTCTCACACACGCCCCTACC TCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGC CCCCTCCCTCACACACGCCCCCCCCTCTCACACACGCCCCTCCCTCTCAC ACACGCCCCTCCCTCTCACACACACCCCTCCCTCACACACGCCCCTCCCT TTCACACACGCCCCCTCCCTCTCACACACATCCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	177	0.0056	712	c.53+ others(727): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	177	0.0056	712	c.53+ others(727): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	177	0.0056	712	c.53+ others(727): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG1_chrX_108040065_108084184	108041553	C C	CGTGTGTG others(705): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCATGTGTACATGCA TAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGTTCCATGTGAGCCTGG GAAAGGGATTACATGTGTGAGTGAATGAATGGGACTTTTTTTCCTCTGTA TCCTTGTTTGTCCTTTGAAAACCATTTACTATCAAAATGTATTACTTTTG TAATTTTTAAGTTAAAAATGAGGGATAAATCAGATATCACATATTTCTGA AAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCATATTTGTTACATTACA ATCACACCGTGCCATTGTGTGGTGTGATAGGAACAGCTTCTAATGCGTGC TATGGTGACCTTGGGAAAAGCACAGCACTTTTGAGCCTCAGTTTTCTTAT ATAGAAAATGTAGGTATACCTGACTTATTTGTTGTATTGGAAAGCTACAT GTTCATTGAACCATTGTCAATAATATTGAAAAACTGGAAACCATCTAAGA ATTTACCAATAAGAGAATGATTAAATAAATTGAGGTACATTCATATCATG AAATACCATGCAGCCTTAACATGGACAAGGTTGATCTATAGATGCAGTTG GACCCAGTGACAGAAAGAGAGAATAAAAATACCTTTTTTAAGGGAGAAAA GCAAATTATAGAACAAAATGTACAGTATTATCATCTTTATGTTTTAAAAA ACCTCGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	167	0.0060	712	c.-35 others(723): Show c.-3578_-3577insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGT GCATGTGTACATGCATAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGT TCCATGTGAGCCTGGGAAAGGGATTACATGTGTGAGTGAATGAATGGGAC TTTTTTTCCTCTGTATCCTTGTTTGTCCTTTGAAAACCATTTACTATCAA AATGTATTACTTTTGTAATTTTTAAGTTAAAAATGAGGGATAAATCAGAT ATCACATATTTCTGAAAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCAT ATTTGTTACATTACAATCACACCGTGCCATTGTGTGGTGTGATAGGAACA GCTTCTAATGCGTGCTATGGTGACCTTGGGAAAAGCACAGCACTTTTGAG CCTCAGTTTTCTTATATAGAAAATGTAGGTATACCTGACTTATTTGTTGT ATTGGAAAGCTACATGTTCATTGAACCATTGTCAATAATATTGAAAAACT GGAAACCATCTAAGAATTTACCAATAAGAGAATGATTAAATAAATTGAGG TACATTCATATCATGAAATACCATGCAGCCTTAACATGGACAAGGTTGAT CTATAGATGCAGTTGGACCCAGTGACAGAAAGAGAGAATAAAAATACCTT TTTTAAGGGAGAAAAGCAAATTATAGAACAAAATGTACAGTATTATCATC TTTATGTTTTAAAAAACCTCGTGTGTGT	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding		3511		chrX	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(705): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCTCTCCCTCC CCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCT CCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCT CCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCT CCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACT CCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTC CCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	9	0.1111	712	c.4-1 others(725): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCTCTCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCT TCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTC CCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCT CCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCC TCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTC CCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(706): Show AACCACCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCTGCCATGGGCATCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCCCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCTCCAGACCACCTGCCTGCCATGGGCATCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTGCAGACCA CCTGCCCACCACGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0272 a0001c0001t0021g0272	1	300	0.0033	713	c.401 others(730): Show c.401+8336_401+8337insACCACCCCTCCTAATGCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCTGC CATGGGCATCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCCCCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGA CAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGC CTGCCATGGGCATCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACG GGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTC CCTCCTAATCCCTGCAGACCACCTGCCCACCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111541	A A	AACCTGCC others(706): Show AACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCACCA GACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCA CAGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACC TCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCT AATCCCACCAGACC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0305 a0001c0001t0003g0305	1	225	0.0044	713	c.401 others(730): Show c.401+8707_401+8708insCCCCGGGAACCATCCCTCCTAATCCCAC CAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAAC CTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTC CTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG ACACCTCCCTCCTAATCCCACCAGACCACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(706): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTC CTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTT CCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTT CCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTT CTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTCC CTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCT TTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCC TCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTC TTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTC TCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT CCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0121 a0004c0009t0011g0121	1	204	0.0049	713	c.106 others(732): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GAAGGGAGGGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGAC AGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAG GAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGA AGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGG GAGGGAGGGAAAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAG GGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAG GGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAA GGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AHRR_chr5_316714_443285	318048	T T	TACCTCCC others(706): Show TACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCC CCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCC CGCCCTCACCCTCCACCTCCCCCCGCACCCTCCACCTCCCCCCGCACCCT GCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCT CACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTC ATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACC TCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCC TCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCG CCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0009	a0004c0003t0009g0223 a0004c0003t0009g0223	1	245	0.0041	713	c.-37 others(724): Show c.-3782_-3781insACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTG CACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCC CCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCC TCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTCCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAG CCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCC CACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCA TCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTC CACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTC CCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCC CCCCACCCTCCATCTGCCCCCAACCCTGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3665		chr5	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(706): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAA GGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAA GGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGGAA GGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGAAGGG AAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAAGGGAAGG GGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAG GGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGG GAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGG AAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGACGGACAGGA CGAAAAAAAGAGAGGGGAGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAA AAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	5	0.2000	713	c.927 others(730): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCAT CCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTC CTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCC TTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCT CTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCTTTCCCT TCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCT TTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTTC CTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCCTTCCCTTC CCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTC CCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTTTC CCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCC CTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144620226	T T	TGTGTGTG others(706): Show TGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTG TCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAG CGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCACGTGTGCCCGTGTGAGCCTGTGTCCCTG AGAGCATATATGCCCGTGTGCGTGAGCTTGTGTGTCCATGAGAGCATGTG TGCCTGTGTGCGTGTGAGCCTGTGCATCTGAGAGCGTGTGTGCCCATGTG TGAGCCTGTGCGTCCCTGACAGTGTGTGCCGGTGTTTGTGTGCCTGTGCG TCCCTGAGAGCGTGTCTGTGTGTGCCCGAGTGTGCGTTGAGCCTGTGTGT CCCTGAGCATGTGTGCCCGTGTGCGTGTGAGCCTGTGTGTCCCTGAGAGC GTGTGCCCATGTGAGCTTGTGTGTCCCTGAGAGAGCGTGTGTGCCCGTGT GTGAGCCTGTGTCCCTGAGAAAGTGTGTGTGCCCGTGTCTGTTAGCCTGT GTGTCCAAGGGAGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02683.hp2 HG03491.hp1 others(1): Show HG00639.hp2 HG02683.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 others(1): Show a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082	4	144	0.0278	713	c.-81 others(732): Show c.-81-14532_-81-14531insGCTCCCTTGGACACACAGGCTAACAG ACACGGGCACACACACTTTCTCAGGGACACAGGCTCACACACGGGCACAC ACGCTCTCTCAGGGACACACAAGCTCACATGGGCACACGCTCTCAGGGAC ACACAGGCTCACACGCACACGGGCACACATGCTCAGGGACACACAGGCTC AACGCACACTCGGGCACACACAGACACGCTCTCAGGGACGCACAGGCACA CAAACACCGGCACACACTGTCAGGGACGCACAGGCTCACACATGGGCACA CACGCTCTCAGATGCACAGGCTCACACGCACACAGGCACACATGCTCTCA TGGACACACAAGCTCACGCACACGGGCATATATGCTCTCAGGGACACAGG CTCACACGGGCACACGTGCTCCCTTGGACACACAGGCTAACAGACACGGG CACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCT CCCTTGGACACACAGGCTAACAGACACGGGCACACACGCTCCCTTGGACA CACAGGCTAACAGACACGGGCACACACGCTCCCTTGGACACACAGGCTAA CAGACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGG CACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCT CCCTTGGACACACAGGCTAACAGACACGGGCACACAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(706): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACAC TACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC ACCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCC ATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAC CCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACC CAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCC ATCACCCCCACACCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATC ACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACC CCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCA CGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02896.hp1 HG02897.hp2 HG01261.hp1 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	3	52	0.0577	713	c.147 others(730): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCCA CCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATC ACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC AGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCCA TCACCCCCACACCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCA CCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCC CCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCATCACCCCCACACTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP5PB_chr1_111444464_111467773	111465203	G G	GTTTGACA others(706): Show GTTTGACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTAC ACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCACATATTCTCACTCATAAGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGGAGTGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAATAATAATAATTAAAAAAGGAAAAAAAAAAAAAAAAAAAA AAAGATTTTAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0028 a0001c0004t0011g0028	1	430	0.0023	713	c.42 others(724): Show c.4209_*4210insTTTGACAACAGGTGCTGGAGAGGATGTGGAGAAA TAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTG TGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATT TGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCAT GCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACA ATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGAT TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCACATATTCTC ACTCATAAGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGTGGGGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAATAATAATAATTAAAAAAGGAAAAA AAAAAAAAAAAAAAAAAAGATTTTAGAGT	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding		2431		chr1	TogoVar
ATP5PB_chr1_111444464_111467773	111465203	G G	GTTTGACA others(706): Show GTTTGACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTAC ACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCACATATTCTCACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGGAGTGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAATAATAATAATTAAAAAAGGAAAAAAAAAAAAAAAAAAAA AAAGATTTTAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18906.hp1 HG02257.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0028 a0001c0004t0011g0028	2	431	0.0046	713	c.42 others(724): Show c.4209_*4210insTTTGACAACAGGTGCTGGAGAGGATGTGGAGAAA TAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTG TGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATT TGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCAT GCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACA ATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGAT TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCACATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGTGGGGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAATAATAATAATTAAAAAAGGAAAAA AAAAAAAAAAAAAAAAAAGATTTTAGAGT	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding		2431		chr1	TogoVar
B4GALNT4_chr11_364499_387117	375110	A A	AAGGGAGG others(706): Show AAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0084 a0002c0004t0002g0084	1	169	0.0059	713	c.784 others(728): Show c.784-344_784-343insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAG GGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(706): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGG AGGGGGAGCAGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGG GGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGG AGGGGAGGAGGGGGAGCTGGGAGGGGAGGAGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAG GGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGG AGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAG AGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0036 a0002c0006t0036	a0002c0006t0036g0116 a0002c0006t0036g0116	1	11	0.0909	713	c.-26 others(722): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCTCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTC CTCCCCTCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAG CTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCTCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCT CCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(706): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTG GGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGG GGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGGAGGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGG AGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAG AGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	11	0.0909	713	c.-26 others(722): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC TCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCC CAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCC CCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCT CCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(706): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCC TCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTC CTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCT CCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19065.hp2 NA18992.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0146 a0001c0003t0001g0148	2	3	0.6667	713	c.162 others(734): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCT TCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTC TCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCT CCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCC TCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(706): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAG GAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA AGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0195 a0002c0018t0001g0195	1	180	0.0056	713	c.85- others(730): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTG CCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT GCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE4_chr3_131528569_132040014	131978272	T T	TATATATA others(706): Show TATATATATTTATATATATATTTATATATATTTATATATATTTATATATA TTTATATATATTTATATTTATATATATATTTTTATATATTTATATATATT TTTATATATTTATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATTTTTATATATTTATA TATATTTATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATATTTATATATATTTATATATATATATTTATATATA TTTATATATATATATTTATATATATTTATATATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATGTATATTTATATATTTATATATATT TATATATATATTTATATATTTATATATATTTATATATATATTTATATATT TATATATATTTATATATATTTATATATATTTATATATTTATATATATTTA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATATTTATATATTTATATATATTTATATATATTTATATATATTTATA TATATTTATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0062 a0001c0003t0003g0062	1	84	0.0119	713	c.-2+ others(730): Show c.-2+56294_-2+56295insTATATATAAATATATATAAATATATATA AATATATATAAATATATATAAATATATAAATATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATAAA TATATAAATATATATAAATATATATAAATATATATAAATATATAAATATA TATATAAATATATATAAATATATAAATATATATATAAATATATATAAATA TATAAATATACATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATATATAAATATATATAAATATATATATATAAATATATATAAATATA TATATATAAATATATATAAATATATATATAAATATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATATA AATATATATATAAATATATATAAATATATAAATATATATAAATATATAAA AATATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATATAAATATATATAAATATATAAATATATAAAAATATATATAAATA TATAAAAATATATATATAAATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	AGCCACAG others(706): Show AGCCACAGATACACGGCCCCCCGTGTCACCCACAGAAACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGG CCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATAC ACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCAGCCACAGAT ACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCC CCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATA CACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0043 a0001c0005t0002g0043	1	335	0.0030	713	c.927 others(728): Show c.927+717_927+718insGCCACAGATACACGGCCCCCCGTGTCACCC ACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGC CCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGT CAGCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATA CACGGCCCCCCGTGTCACCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(706): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCA CTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCA CCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCACT TCCACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTC CACCACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCA ATATTATCACCTTTCCTATCACCTCCAATATCACTACCTCCTCCACCATC ACCACCATCACCTCCACCACCACCACCTCCTCCACCATCACCACCTCCTT CACCATCACCATCA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	68	0.0147	713	c.323 others(732): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACC ATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAG CATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCAT CACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCA TCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCA CCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACC ATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAA TATCACTACCTCCTCCACCATCACCACCATCACCTCCACCACCACCACCT CCTCCACCATCACCACCTCCTTCACCATCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
FHIT_chr3_59742277_61256452	60861213	T T	TATATATC others(706): Show TATATATCATATATGATATATATGATATATATCATATATGATATATATGA TATATATCATATATGATATATATCATATATATCATATATGATATATATCA TATATATCATATATGATATATATCATATATATCATATATGATATATATCA TATATATCATATATGATATATATCATATATGATATATATCATATCATATA TGATATATATCATATCATATATGATATATATCATATATATCATATCATAT ATGATATATATCATATATATCATATCATATATGATATATATGATATATAT GATATATCATATATATCATATATGATATATATGATATATATGATATATCA TATCATATCATATATGATATATATGATATATATGATATATCATATCATAT CATATATGATATATATGATATATCATATCATATCATATATGATATATATG ATATATATGATATATCATATATATCATATATGATATATATGATATATATG ATATATCATATATATCATATATGATATATATGATATATATGATATATCAT ATATATCATATATGATATATATGATATATATGATATATCATATATCATAT ATGATATATATGATATATATGATATATCATATATCATATATGATATATAT GATATATATGATATATCATATCATATCATATATGATATATATGATATATA TGATATATCATATC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0024 a0001c0003t0003g0024	1	37	0.0270	713	c.-11 others(734): Show c.-110-39203_-110-39202insGATATGATATATCATATATATCAT ATATATCATATATGATATGATATGATATATCATATATATCATATATATCA TATATGATATATGATATATCATATATATCATATATATCATATATGATATA TGATATATCATATATATCATATATATCATATATGATATATATGATATATC ATATATATCATATATATCATATATGATATATATGATATATCATATATATC ATATATATCATATATGATATATATGATATATCATATATATCATATATATC ATATATGATATGATATGATATATCATATATATCATATATGATATGATATG ATATATCATATATATCATATATATCATATATGATATGATATGATATATCA TATATATCATATATATCATATATGATATATATGATATATCATATATATCA TATATATCATATATGATATGATATATATGATATATATCATATATGATATG ATATATATGATATATATCATATATGATATGATATATATCATATATGATAT GATATATATCATATATGATATATATCATATATGATATATATGATATATAT CATATATGATATATATGATATATATCATATATGATATATATGATATATAT CATATATGATATATATGATATATATCATATATGATATATATCATATATAT CATATATGATATATATCATATATATCATATATGATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(706): Show ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT ATAAATATATATGTATGTATATTATATACATATAAATATATATGTATATA ATATATATGTATGTATATTATATACATATAAATATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TATATTTATATACATATAATACATATACATATATACATATAAATATATAT TTATATATATATAAATATATATATTTATATATATAAATATATATATTTAT ATATATATAAATATATATATATTTATATATATATAAATATATATATTTAT ATATATATAAATATATATATATTTATATATATATACATATAAATATATAT TTATATACATATAAATATATAATTATATACATATAAATATATATAATTAT ATACATATAAATATATATTTATATACATATAAATATATATATTTATATAC ATATAAATTTATATACATATAAATATATATATTTATATTTATATACATAT AAATATATATATTTATATTTATATACATATAAATATACATATAAATATAA ATATTTATATTTATATACATATAAATATAAATATTTATATTTATATACAT ATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02976.hp1 HG01884.hp2 HG01891.hp2 HG02976.hp1	a0002 a0003 a0002 a0003	a0002c0011 a0003c0021 a0002c0011 a0003c0021	a0002c0011t0001 a0003c0021t0001 a0002c0011t0001 a0003c0021t0001	a0002c0011t0001g0089 a0003c0021t0001g0256 a0003c0021t0001g0257 a0002c0011t0001g0089 a0003c0021t0001g0256 a0003c0021t0001g0257	3	274	0.0109	713	c.49 others(724): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATATAAATATTTATATTTATATGTATATTT ATATGTATATAAATATAAATATATATATTTATATGTATATAAATATAAAT ATATATATTTATATGTATATAAATTTATATGTATATAAATATATATATTT ATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATAT GTATATAATTATATATTTATATGTATATAAATATATATTTATATGTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATATATAAATATATATTTATATGTATAT ATGTATATGTATTATATGTATATAAATATATATATTTATATGTATGTAAA TATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATACATATATATTATATACATATATATTTATA TGTATATAATATACATACATATATATTTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(706): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTC TCTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTT CCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCC CTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCT CCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTC TCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTC CATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTC TCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCC CCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCC TTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCT CCCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTCTCCCCCC TCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTCTGTCCCC CTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0099 a0002c0004t0001g0099	1	4	0.2500	713	c.126 others(730): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAAAGGGCGGG GGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAG GGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGG GGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGG GAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAG AGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAG GAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGG AAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAG GGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGG AGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGG AGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAGA GGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGG GGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GABRB3_chr15_26538552_26778066	26716845	C C	CACAGCCC others(706): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCT GGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGG GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACA GCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGC TCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	198	0.0051	713	c.240 others(732): Show c.240+55556_240+55557insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATT TGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTA GGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
IFT140_chr16_1505427_1617072	1599456	T T	TCCGGGAG others(706): Show TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGT CAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCGGCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	332	0.0030	713	c.369 others(730): Show c.369+2913_369+2914insGCGGGGGGCCGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTGACCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCATCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(706): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATATTTATATATATATTATTTATATAT ATATTTATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	70	0.0143	713	c.125 others(730): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTATTTATATATATATTTATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(706): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATATTTATATATATATTTATATATATATT ATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	70	0.0143	713	c.125 others(730): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATATTATTTATATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(706): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18969.hp1 NA18979.hp1 others(1): Show HG03927.hp2 NA18969.hp1 NA18979.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0002 a0003c0005t0002 a0003c0005t0028 a0001c0004t0002 a0003c0005t0002 a0003c0005t0028	a0001c0004t0002g0204 a0003c0005t0002g0056 a0003c0005t0002g0121 others(1): Show a0001c0004t0002g0204 a0003c0005t0002g0056 a0003c0005t0002g0121 a0003c0005t0028g0086	4	9	0.4444	713	c.368 others(730): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAA GTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(706): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0052 a0002c0002t0010g0052	1	6	0.1667	713	c.368 others(730): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAA GTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(706): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGC GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGA TCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTA ATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCA TAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCA ATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTG ATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	82	0.0122	713	c.23 others(724): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(706): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTG ATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 NA20300.hp2 HG02148.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0021 a0001c0001t0017 a0001c0001t0021	a0001c0001t0017g0173 a0001c0001t0021g0045 a0001c0001t0017g0173 a0001c0001t0021g0045	2	83	0.0241	713	c.23 others(724): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(706): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTG ATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG02132.hp1 others(24): Show HG01109.hp2 HG01123.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG03225.hp2 HG03704.hp2 NA18941.hp2 NA18942.hp2 NA18957.hp1 NA18959.hp1 NA18973.hp2 NA18999.hp1 NA19002.hp1 NA19007.hp2 NA19060.hp1 NA19063.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 others(5): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0001c0001t0036 a0001c0001t0037 a0001c0001t0070 a0001c0001t0072	a0001c0001t0004g0005 a0001c0001t0004g0034 a0001c0001t0004g0051 others(14): Show a0001c0001t0004g0005 a0001c0001t0004g0034 a0001c0001t0004g0051 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0162 a0001c0001t0004g0232 a0001c0001t0010g0035 a0001c0001t0010g0089 a0001c0001t0010g0128 a0001c0001t0011g0017 a0001c0001t0011g0182 a0001c0001t0026g0091 a0001c0001t0036g0037 a0001c0001t0037g0090 a0001c0001t0070g0088 a0001c0001t0072g0227	27	108	0.2500	713	c.23 others(724): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(706): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTG ATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01978.hp2 HG01346.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0164 a0001c0001t0005g0025 a0001c0001t0005g0164	2	83	0.0241	713	c.23 others(724): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGA GAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCA CGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTA GCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTT TTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(706): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGG GAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGG AGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGG GAGGGAGGGGAGGGGAGTGGAGGGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGG GGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0250 a0001c0001t0006g0250	1	8	0.1250	713	c.250 others(728): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTC CCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTC CCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCC CCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0244 a0001c0014t0001g0244	1	59	0.0169	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCAAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0232 a0001c0007t0001g0232	1	59	0.0169	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG06807.hp2 HG00280.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0006 a0001c0001t0002 a0001c0003t0006	a0001c0001t0002g0238 a0001c0003t0006g0222 a0001c0001t0002g0238 a0001c0003t0006g0222	2	60	0.0333	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02280.hp2 HG02559.hp2 others(9): Show HG01517.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG03098.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0220 a0001c0002t0001g0091 a0001c0002t0001g0111 others(9): Show a0001c0001t0001g0220 a0001c0002t0001g0091 a0001c0002t0001g0111 a0001c0002t0001g0132 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0004t0001g0146 a0001c0009t0001g0086	12	70	0.1714	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0142 a0001c0010t0001g0142	1	59	0.0169	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(706): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTA TATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGAC AAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATAT AACTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGA CCTAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAAT ATATATATATAAATATATAAATATAAATATATAAATATATATATATAATT ATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATA TATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATAT AAATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTG GTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19088.hp2 NA18947.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0219 a0001c0001t0001g0238	2	9	0.2222	713	c.293 others(732): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATAT AAATATATAAATATAAATATATAAATATATATATATAATTATATATATAT ATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTC TTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAAT ATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTA TATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUC4_chr3_195741771_195816929	195760526	A A	AGTGGAGG others(706): Show AGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCT GGGAAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCA GCACTAGGATGGAGTGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGG AGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTG GGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAG CACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGA GTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAG CGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAG TGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAG CGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAG TGGAGGGGGCTGGGAAGGTGTCCAGCACTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCA GCACTAGGATGGAG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0009 a0009	a0009c0061 a0009c0061	a0009c0061t0001 a0009c0061t0001	a0009c0061t0001g0070 a0009c0061t0001g0070	1	119	0.0084	713	c.148 others(732): Show c.14848+357_14848+358insCTCCATCCTAGTGCTGGACACCTTCC CAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGTGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTG CTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGC TGGACGCCTTCCAAGCCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCC CAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCAT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203791	A A	ATATAAAT others(706): Show ATATAAATATATATTATATATTTATATATAAATATTTATATATAAATATA TAATATATATTTATATATAAATATTTATATTTTATATATTTATATATTTT ATATATTAATATATAAATATTTATATTTTATATATTTATATATTTTATGA TTTTATAAAATATATAATTTATATAATAATTTTATAAATTATATAATTTA TATATTATATATAATATATTTATATTAAATATACATTTATATATTATATA TAATATATTTATATTAAATATATATTTATATATTATATATAATATATTTA TATTAAATATATTATATATAATATATTTATATTAAATATATTATATATAA TATATTTATATTAAATATTATATATTTATATATTATATATTTATATTAAA TATTATATATTTATGTTATATAATATATTTATATTAAATATTATATATTT ATATATTATATATAATATATTTATATTAAATGTTATATATTTATATATTA TATATAATATATTTATATTAAATGTTATATATTTATATATTATATATAAT ATATTTATATTAAATGTTATATATTTATATATTATATATAATATATTTAT ATTAAATATTATATATTTATATATTATATATAATATATTTATATTAAATA TTATATATTTATATATTATATATATTTATATTGAATATTATATATTTATA TATTATATAAATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01884.hp2 others(2): Show HG00639.hp2 HG01109.hp2 HG01884.hp2 HG02615.hp2 NA19043.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0080 a0002c0005t0004g0081 a0002c0005t0004g0083 others(2): Show a0002c0005t0004g0080 a0002c0005t0004g0081 a0002c0005t0004g0083 a0002c0005t0004g0169 a0002c0005t0004g0170	5	148	0.0338	713	c.166 others(732): Show c.1666-6060_1666-6059insAAATATATATTATATATTTATATATA AATATTTATATATAAATATATAATATATATTTATATATAAATATTTATAT TTTATATATTTATATATTTTATATATTAATATATAAATATTTATATTTTA TATATTTATATATTTTATGATTTTATAAAATATATAATTTATATAATAAT TTTATAAATTATATAATTTATATATTATATATAATATATTTATATTAAAT ATACATTTATATATTATATATAATATATTTATATTAAATATATATTTATA TATTATATATAATATATTTATATTAAATATATTATATATAATATATTTAT ATTAAATATATTATATATAATATATTTATATTAAATATTATATATTTATA TATTATATATTTATATTAAATATTATATATTTATGTTATATAATATATTT ATATTAAATATTATATATTTATATATTATATATAATATATTTATATTAAA TGTTATATATTTATATATTATATATAATATATTTATATTAAATGTTATAT ATTTATATATTATATATAATATATTTATATTAAATGTTATATATTTATAT ATTATATATAATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTGAATATTATATATTTATATATTATATAAATATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158668245	C C	CCTTACCC others(706): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCC ACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGT CCCTCCGCCCCCCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0226 a0001c0005t0001g0226	1	362	0.0028	713	c.147 others(732): Show c.1479+3268_1479+3269insCGGGGGGCGGAGGGACCCAGGGTCGG TAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAG GGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NT5DC3_chr12_103767310_103846234	103840372	G G	GCTCATCT others(706): Show GCTCATCTCATCTCCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0020 a0001c0004t0003g0020	1	382	0.0026	713	c.208 others(728): Show c.208+576_208+577insATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGGAGATGAGATGAG	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
ODF3_chr11_191761_205258	196508	A A	ACCTGGTG others(706): Show ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02647.hp2 others(1): Show HG02257.hp2 HG02486.hp2 HG02647.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	4	383	0.0104	713	c.-54 others(722): Show c.-547_-546insCCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGAC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		252		chr11	TogoVar
PDCD6_chr5_266646_319974	318048	T T	TACCTCCC others(706): Show TACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCC CCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCC CGCCCTCACCCTCCACCTCCCCCCGCACCCTCCACCTCCCCCCGCACCCT GCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCT CACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTC ATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACC TCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCC TCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCG CCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	341	0.0029	713	c.35 others(724): Show c.3533_*3534insACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTG CACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCC CCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCC TCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTCCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAG CCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCC CACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCA TCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTC CACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTC CCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCC CCCCACCCTCCATCTGCCCCCAACCCTGC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3075		chr5	TogoVar

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