Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1016324	CGCCTCCA others(1218): Show CGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACA GACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCA GGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGA CAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGAC AGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTATGACCAGGACAGACGGTGCCTCCACTGTGTGTGTG ACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTC CACTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	-1225	c.73+ others(19): Show c.73+108408_73+109632del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
SFMBT1_chr3_52898572_53051073	53012592	CGGGGTTT others(1218): Show CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGAGTGCTCTTAATCCTTTGCTTATTTTAGTAATAGGAAAA CACTGGCCAACAAACCCAAAAGTCAAAGGTTAGGGCCTACATATCATATG ATTCAAGGTAATGCAATTATGGGAAAATGGAAGACACAATTTAGTTTTTG CAGGCTAAATTTCCATCACCAGCAAATCTAGTTCAGCTATAAATATAACA AATTAACATACACTGATTGGAGCATATTTCACCTGCTTTATAGTTGAAAA GCTAACATCTCTCAAAACTCAATGCTAAAGAGACTAATAACAAAAATACA AAAAAACCCATAAAAAATTATAAATATTTTATACTACCTTTCCCAAACCG TAAACCATATTTTGAAAAAGCATCTAAAAGACCAATCACAATCATCTGAA AATCTGCTTTAGGAATTGTGGAGCTACTGGATTTGATTATAATGTTGGCA AAAACACTTGCTGCTTCAATGGAAAATATTTTCATCAATATTTCCAGTGA TGGGCTCTAAGTTGAGATAGTACAATTCATTCATGAAACTTGCTAAGTTA CAATTTATGCACTAGTTTCTACTCAAAATGGTAAGGGTAATCATTCTTCA ATCTTTCACCTAAAGAGTAAAACTCTTCTAGGTGGACAACAGGGAACAGG TAAACTTAGAATTGCCAAAGAATATTACGTCTTGAGTATAACTCTTAGTG GTATTGTATGGCTAAGTTGTTCAAAACAGACCAGAGGTGAGTTTCTGCTA AATTCACTTTTCTATCCACTGCTAGCTGGAATCAACTTTTTTCACATTCT AGGAAATGATTACTATATTTGCTCTTGCCAAAATGCTCTCACCATTTTGT TACTATTAGATAATAATCCATTAATAGTAAATTTAATTACTTCAAGAAGG AACACAGTTTATTTATAAAGAATCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCCGGAGTGCAATGGCGC AATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTG TCTCAGCCTCCCAAGTAGCTAGGATTACAGGCGCCCACCACCACACCCAG CTAATTTTTGTATTTTTAGTAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp2 HG02257.hp1 others(3): Show HG01074.hp1 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0324 others(3): Show a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327	6	328	0.0183	-1225	c.-13 others(21): Show c.-131+31999_-131+33223del	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
ARHGAP39_chr8_144524179_144690846	144624711	GGCGGCCC others(1217): Show GGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCC CCGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGT CCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCT GTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCC TGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCC CTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCC CCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGC CCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAG CCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCA GCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGC AGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCG GCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGC GGCATCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTG CGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACT GCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACAC TGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACA CTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCAC ACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCA CACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGC ACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTG CACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACT GCACACTGCGGCAGCCCCTGTCCCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0022 a0001c0001t0018g0022	1	246	0.0041	-1224	c.-81 others(19): Show c.-81-20240_-81-19017del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
BRF1_chr14_105204286_105306001	105231908	CGTGGCAC others(1217): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGA GAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGA CAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAG GAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGG GACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTC AGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGG GGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATC TCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGC GGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCA TCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGG GCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAG CATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGG GGGCGGGGGACAGCCTGGCAGCCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	72	0.0139	-1224	c.695 others(17): Show c.695-4219_695-2996del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRSK2_chr11_1384934_1467689	1431912	GGGTCTGG others(1217): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCCTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01361.hp2 HG00639.hp2 HG01069.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0179 a0001c0001t0004g0185 a0001c0001t0004g0161 a0001c0001t0004g0179 a0001c0001t0004g0185	3	360	0.0083	-1224	c.92- others(15): Show c.92-4103_92-2880del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GALNT9_chr12_132191372_132334589	132221165	CCAACATG others(1217): Show CCAACATGGTGAAACCTGTCTCTACCAAAAATACAAAAATTAGCTGGGTG TGGTGGTGGGCACCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGCAGC ATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTTCACACCAT TGCACTCCAGCCTGGCGACAGAGTGAGATTGTGTCCAAAAAAAAAAAAAA AAAAAAAAAAAAAGGGCTGGGTGCGATGGCTCATGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGTTCAAGACCAG CCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCT GGGTGTGGTGGTGGTGGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAG GCAGGAGAATTCCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGTTGTGAT CATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACGTTCTCAAAAAA AAAAAAAAAAAAAAGCAAGCAAGCCTGAGATGGACAATGTATGCAACGCC CCATAACGGAAAAGAAAGGAATCCGCAAACGTCAGGGCTCTGTGATCAGA GGAATTCGGGGGCCCAGAAGCCCACCCCACAGCCGTTCCTGGTACTGCGC TGCTGGGTGACATCGGGTAAATGCAACCCGCACTTGCTGGAATCGAATTT CAGCAAAAGGTTTCTCAGGTTCACATGGGAGAGTAAAAGCAAGAGAATAA TAGTCAAGAAAGTCCTAAAATAGTAATGGGGACAGGTTTAATCGCTAGAC ATGCAGCTATTTTATAAATAATTGTATAAATAATGGCTTAGAGTAGAAAG CTCAAGACAGACAGTGGATTGGGTAAGCCTGTGACGAGGGCTGCTCTTCC GTTCGCGGCTGAGGATGGAGATTTGATGAGTGACCTGAGAAGGCATCGTC CACCATCTTAAAACCTGATAAAGATCAGCAGCTTCCTCATGTGAAAACAC ACAACTCCAAACGGATGAAGGCTTTTAATTTGAAAAAAGAATTCTACGAG TATCAGAAAGATGTTCAGATGGTCAAACAGGCTTCCCTAAGAACGACAGC AAAGGCACACACCATTAAAACGCACATACCAGGCCAGGCGCAGTGGCTCA AGACTGTGGCCCCAGCACTTGGGGAGGCCGAGGCAGGAGGATTGCTTGAG GCCAGGAGTTCAAGGCCAGCCTGGG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0008	1	183	0.0055	-1224	c.107 others(21): Show c.1078-18699_1078-17476del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GRID2_chr4_92298966_93779566	93678911	AAATTCAC others(1217): Show AAATTCACACATAACAATATTAACTTTAAATGTAAACGGACTGAATCCTC CAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGACCCATCA GTGTGCTGTATTCAGGAAACCCATCACACATGCAGAGACACACATAGGCT CAAAATAAAAGGATGGAGGAAGATCTACCAAGCAAATGGAAAATAAAAAA AGTCAGGGATTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACA AAAATCAAAAGAGACAAAGAAGGCCATTGCATAATGGTAAAGGGATCAAT TCAACAGGAAGAGCTAACTATCCTAAATATATAGGCACCCAATACAGGAG CACCCAGATTCGTAAAGCAAGTCCTTAGTGACCTACAAAGAGACTTAGAC TCCCACCCAATAATAATGGGAGGCTTTAACACCCCACTGTCAACATTAGA CAGATCAACGAGACAGAAAGTTAACAAGGATACCCAGGAATTGAACTCAG CTCTGCACCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAA TCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAAC TGACCACATACTTGGAAGTAAAGCACTCCTCAGCAAATGTAAAAGAACAG AAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAAACTAGAACTC AGGATTAAGAAACTCACTCAAAACCGCTCAACTACATGGAAACTGACAGC CTGCTCCTGAATGACTACTGGGTACATAACAAAATGAAGGCAGAAATAAA GATGTTCTTGGAAACCAACGAGAACAAAGACACAACATACCAGAATCTCT GGGACACATTTAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCC CACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCTAACATCACAATT AAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCCAGAAGAAGGC AAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACCAAAAAA ACCTTTCAAAAAATTAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAA CAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGA ATCAAATAGATGCAATAAAAAATGATAAAGGGGATATCACTGCCAATCCC ACAGGAATACAAACTACCATCAGAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19030.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0003g0032 a0001c0001t0001g0034 a0001c0001t0003g0032	2	34	0.0588	-1224	c.236 others(21): Show c.2360+52480_2360+53703del	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPH3AL_chr17_207389_357807	287153	TCTCTCCA others(1217): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGT CAGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACC GTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTC TCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTC TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCA CCGACAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTC TCCACCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTC TCTCCACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACACTC TCTCTCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC ACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACC TCACTCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGT CAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGGCCTCACACCCTCTCTC CACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTC TCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACTCCC TCTCTCCACCGTCAGACCTCGCACC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02738.hp1 HG01358.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0098 a0001c0002t0002g0038 a0001c0001t0003g0098 a0001c0002t0002g0038	2	133	0.0150	-1224	c.352 others(17): Show c.352-6523_352-5300del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245974691	GTCTCCGG others(1217): Show GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT GGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	150	0.0067	-1224	c.532 others(19): Show c.532-45978_532-44755del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
ADARB2_chr10_1172313_1742525	1699232	GCTCGCCA others(1216): Show GCTCGCCAATACACTCAATCCCACTCCACCGGGAGACCGGGCACTCGCCA ATACACGCAATCCCACTCCACCGGGAGACCAGGTGCTCACCAGTACACGC AATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACACGCAATCCCAC TCCACCGGGAGACCAGGCGCTCGCCAATACACTCAATCCCACTCCACCGG GAGACCGGGCACTCGCCAATACACGCAATCCCACTCCACCGGGAGACCAG GTGCTCACCAGTACACGCAATCCCACTCCACCGGGAGACCAGGCGCTCGC CAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACAC TCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACACTCAATCCC ACTCCACCGGGAGACCAGGCGCTAGTCAATACACTCAATCCCACTCCACC GGGAGACCAGGCGCTAGTCAATACACGCAAACCCACTTCCACCAGGGAGA CCGGGGCACTCGCCAATACACACAATCCCACTCCACCGGGGAGACCAGGC GCTCGTCAATACACTCAATCCCACTCCACCGGGGAGACCAGGCACTCACC AATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACG CAATCCCACTCCACCGGGAGACCAGACGCTAGTCAATACACGCAATCCCA CTCCACCAGGAGACCGGGCACTCGCCAATACACGCAATCCCACTCCACCG GGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCAGGAGACCG GGCACTCGCCAACACACACAATCCCACTCCACCGGGAGACCAGGCGCTCG TCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATACA CTCAATCCCACTCCACCGGGAGACCAGGCACTCGCCAACACACACAATCC CACTCCACCAGGAGACCAGGCGCTCGCCAATACACGCAATCCCACTCCAC CAGGAGACCAGGCGCTCGCCAATACACTCAATCCCACTCCACCGGGAGAC CAGGCGCTAGTCAATACACGCAATCCCACTCTACCAGGAGACCGGGCACT CGCCAACACACACAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATA CACTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAAT CCCACTCCACCAGGAGACCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02257.hp2 others(9): Show HG01433.hp1 HG02055.hp2 HG02257.hp2 HG02622.hp1 HG02897.hp1 HG02970.hp1 HG03540.hp1 HG04184.hp2 NA18983.hp2 NA19043.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0008c0013	a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 others(8): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 a0002c0002t0002 a0002c0002t0005 a0002c0002t0044 a0002c0002t0046 a0002c0004t0005 a0002c0004t0028 a0008c0013t0020	a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0012g0024 others(9): Show a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0012g0024 a0001c0001t0023g0023 a0001c0001t0025g0036 a0002c0002t0002g0075 a0002c0002t0005g0033 a0002c0002t0044g0049 a0002c0002t0046g0056 a0002c0004t0005g0029 a0002c0004t0028g0020 a0008c0013t0020g0037	12	106	0.1132	-1223	c.100 others(19): Show c.100+36596_100+37818del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
B4GALNT1_chr12_57618409_57638201	57634244	GGTGACAG others(1216): Show GGTGACAGAGCGAGACTCTGTCTCAAAAGAAGAAATCATGGAATTTTTGT TTTGTTTATGATCTTGGAGTAGGGAAGAGATCTCTAAGCCAGATGTAAAG GGAAATATTAATAAATCTGACTATATGAAAAACTTGAGTGAAGAAATTAA CATACACTAAATTTGAGAGAGAAATGACAAACTGTGAAAAAATATTTGTA ACATATAAGACAGGTATACTTTATCTGGTTGGTGCCCCCAGCGGAGATGA CCAGGAATGAATTATGAACCATTGAAAACATAGGAATCCATGACTCCACA CTGATAATACATAGATAATTAATTAATTAATTAATTAAATGAATGAAGGA GAAGGGAGAATGCCAATTAATAAATGTGGAGGGAGCTGATGGAGTTGGAA AATAACTATTTTTTAAAATTTTATTTTATTATTATTATACTTTAAGTTTT AGGGTACATGGGCACAATGTGCAGGTTAGTTACATATGAATACATGTGCC ATGCTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCT CCTAAAGCTATTCCTCCCCCCTCCCCCCATGAAAATAACTATTTTGCAAC CATCAGAGTAAAAGTTGGTTTGGGCAAGAATTATCAATGAATGCTAATTC TAGGGGGAAAGTTTGACAGAAGCAGCTTATGTACGTAGCTTAAAGTATCT CCCCATAGTTGGCTTATTCGTTGCAAGAGGAAAAATTGTAACCGCGCAGT GGGAAAAGCAGACAGCACCTTGACTTGCTGGCCAAAATTAACATCACCAA TGAGGGACAGAAGAATATCATGTGCCTCCAGAAATGTTCCCCGGAGAAAG CATGACATCATTTATGTAGTGATGTGGCTGGGAATACATAACTTGATTTT AAATACAAAGAAACAGACAGACCCCAAGTAAGGAATATTTTCTCTGTATA AAAGAAACAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCATTTTG GAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGTCCG GCCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAATTAGACGGG CATAGTGATGAGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGA GAATTGCTTGAACCCTAGAACCCAGAGGTGGACATTGCAGTGAGCCAAGA TCGCACCACTGCACTTCAGCCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(101): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18961.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18982.hp1 NA18992.hp2 NA18993.hp1 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19084.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0002c0013 a0003c0003 a0004c0008	a0001c0001t0001 a0001c0001t0026 a0002c0002t0003 others(21): Show a0001c0001t0001 a0001c0001t0026 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0002t0022 a0002c0004t0009 a0002c0004t0016 a0002c0004t0017 a0002c0004t0023 a0002c0005t0010 a0002c0005t0016 a0002c0013t0017 a0003c0003t0010 a0003c0003t0013 a0003c0003t0015 a0003c0003t0016 a0003c0003t0018 a0004c0008t0003	a0001c0001t0001g0001 a0001c0001t0026g0059 a0002c0002t0003g0003 others(29): Show a0001c0001t0001g0001 a0001c0001t0026g0059 a0002c0002t0003g0003 a0002c0002t0003g0017 a0002c0002t0003g0035 a0002c0002t0003g0037 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0005g0005 a0002c0002t0005g0034 a0002c0002t0007g0011 a0002c0002t0010g0050 a0002c0002t0011g0018 a0002c0002t0012g0020 a0002c0002t0014g0021 a0002c0002t0015g0025 a0002c0002t0022g0044 a0002c0004t0009g0015 a0002c0004t0016g0048 a0002c0004t0017g0024 a0002c0004t0023g0049 a0002c0005t0010g0042 a0002c0005t0016g0036 a0002c0013t0017g0043 a0003c0003t0010g0038 a0003c0003t0010g0041 a0003c0003t0013g0019 a0003c0003t0015g0039 a0003c0003t0016g0040 a0003c0003t0018g0022 a0004c0008t0003g0023	104	406	0.2562	-1223	c.-26 others(11): Show c.-2697_-1475del	B4GALNT1	ENSG00000135454.14	transcript	ENST00000341156.9	protein_coding		1044		chr12	TogoVar
KLHL7_chr7_23100785_23182914	23141571	GCAGTCAT others(1216): Show GCAGTCATTTGGGAGCTGGGTGGGAGAACACTTTATTTAATTCATTCATT CATTCATTCATTCATTTATTGAGACGGAGTCTCGCTCTGTTGCCCAGGCT GGAATGCAGTGGCGTGATCTCTGCTCACTGCAAGCTCCTTCTCCCGAGTT CACGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACTGGTGCC CGCCACCGTGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTAGATCTCCTGACCTTGTGATCTGCCCG CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGG CCTTATTTATTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAG TGCAGTGGCATGATCACGGCTCACTGCAACCTCCACCTCCCGGGTTCAAG CGATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTATAGGTATGTGCC ACCACACCCTGCTAATTGAGATGGGGTTTCACCATGTTGGCCAGGCTGGT CTCAAACAGTTGACCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACA GATGTGAGCCACCATGCCTGGCTGTGGGAACACTTTAATATGCAGACTCA CTTAATCTCTCTTTTCAGCCCCACATCCTTCTCTATATTTTAAGCCACTA AGTTTGTGGTAATTTGTTACAACAGCAATAGAAAACTAATATAGGTACTA TAAGATCATATGTTTTAAGTTGCTTTTGTTCTAAAAACAAAAATTTGCAC TTAGCAATGTTCTTTTGCCCAGTCTTCTTCGTGGCCCAGAGTATCAATTT GCAAATTGACAGGTTGGACCTGGAGGACCTCACTAGATAAATAGAAAAAA TTTACTTCCATGATCAAAATTGGTTGACTTAAATGCAGTATGGAAAAGGA GTAACAAGTAACATTACACTGGAGAAACGTTATAAACAGTACCTGCAGAT GGTCAGCATTAGCATCATCAGTGATGTCATGTTGATAGTATGCACACTTG ATGTAATGAAAATGCCATTCACCTCTATGATCGTCCTCCTAAAAAACCAT AACCTCAGTCTAATAAGTAACACATCAGATAAACCCATATTGAAGGACAT TCTCAACAAAATACCTGACCAGAACTCAAAACTGTCAAGGTTGTCAAAAA CAAGGAAAGGCTGAAAAACTGTCA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp1 HG02895.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0055 a0001c0005t0027g0057 a0001c0005t0027g0055 a0001c0005t0027g0057	2	328	0.0061	-1223	c.618 others(16): Show c.618+633_619-1052del	KLHL7	ENSG00000122550.18	transcript	ENST00000339077.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMOC2_chr6_168436184_168672992	168575831	CGACTTCC others(1216): Show CGACTTCCTTGATCATCACTCAGTTCCTCTCTCAGGATCATCCTCCACCA TTGTGACTTTACTGACTTGGGTGCCCTCCCAAGCACCCAGGTGAAGGCCA GTGCACCCCTGCCTGTCGGCCACATGCTGGCAGGAGGCAGCCCGCCATGA GACACAGAGGCAGGGTGGCTGGGGTTAGAGGCAGGACTTTGGAGCCTGGT GGCCTGGGTCTGAAACCTGGTTGTCCCCTCCCTACCCTAGCCTTGGTCAG GTTGTGGTTGCTCAGATTTAGTTGTGCCAAGCGGTGAAGACTGGGTGAGG CCATGCTGGGCAGGTGCACCAGTCAGCCCTGTGTAGGTTTCCTCAACTCT GCTCATTCAAACAGGTAAATACATAACACACAACCCTTATTCTCAAATAG CTCAAGTTTATGGTCTAATTCAGCAGCTCCCACACTTTTTTGATATAAAA ATTCTTTTGTGCTGTTATAACTCATCAAGGACCCCAAAAAGCTCTTGTAA TCATGGGCTGTATCTACTGACATCAGTGAACATGTTTGCACTAAGCACGT TGTGATCTGAGGCACGTCCAGTCGGGCAGCAGATGGCTGACATCGCAGAT CACCTAGGCTCACACGCTTCCAGAGTGCAAGGCCAGAGAACACCTTAGCA GTCTATAAAAGTGGTTCCGACCCCACGGATCTCCTGTGAGGACCTTAGGG AGCCCTGGGGGTCCCTTCAGACCTCGCTCTGAGAATGGCTGGTCTAACAG CAGGGACACCAAATGGACGCATCACAGGCAAACCGGCGGGCCTCGCTCCA TGGAACCCCCAACCACAAGGAGCTCTAAGTGCAGTGGGATCCTCAGGTGA TCCGAGTCCTTGGGGTGGAAGGAATGAGGGAAGGTTTCCCTGAGGAAACA AGGCAGAAGCAAAGTAGAAGGAAGGTTTTCTGGCAGTGTCGTGATCGTGT TCAGGGATCACCCGTCAGAGACTCATCGTCGATGTGAACACACATCCCTA AATCTAGTTTACATGCTTAAATTGAGCACTTTGCTCCTCAGTCACAGACA TCTACACGCAGGCATTTAGATTTTTCCCCTCAAGCACGCATGAGATTTCC TTTATACCTGGAGAAAGAAGGGCCCATCCTGGAGATTTTCCCAGAAGGAA TCCCTGGAAGGTGAATTCCAGCCACTGAGTCTTGGGTGACACTTGCTGTT TTGAAATGGCCCCTTGCCTGTTGA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0050 a0001c0007t0005g0050	1	180	0.0056	-1223	c.638 others(19): Show c.638-22986_638-21764del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
METTL21A_chr2_207607739_207630394	207621541	GGGGGCAG others(1215): Show GGGGGCAGAGCAATCTCCCATGGGAAGTATAAATAACAGAGTGTGTGTGT GTGTGAGAGAGAGAGACAGAAATTAGAGAGAGAGAAATTAGCCCGTTAGC CTCACTGGAGTTAAGAACCCCAGCAGTTGGCCCACAACTCATAAGTATAA GCAAAAGATAATAACCCAGTAAGGGGAAAACCCACGAAGGGTTTTGCGCT AAGAAAACAGCAAATGCACCTCTCAATGAGTTCTGCTCACTAAGGAGTCA ATGCATGACACTCACCCAGCAGGGCAGCCACTATGCCCACCAGCCCCGTG CCAGCACCCAGCTCCACGGCAGAGCGGCCCCTGAGCTCCACAGCTCCCAT CTCCAGGTATGTGGAAAGAACGATGGCCTGAATGAAAACACAGTGTGATG ACGATTAAGGTCAACATGTGCTTGAGTAGCTGCAGGGTTTCAGGTCAGCT ACACCCACCCCTCTCCCACTTCGAGGTTCAATTCCCAGCTTAACAACACA CACAGGAACTTAGCTGGTGCAGCAAGGTAACCTCCCCCTTAGAGCAAGCA CAGGGTCCCACAGCAGTGCCCAGAGATGATGCCCACACTAAATGGGGTCC TGCTGGATCTGGAAAGCTTAATTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCAGTCCATCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGC TCACTGCAACCTCCACCTCCCAAGCTCAAGCGATTCTCCCACCTCAGCAC CCCCAGTAACTGGGACACAGGCGTGCACCACCACACCCAGCTAATTTTTG TAGTTTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTT GAACTCCTGAGCTCCTGCGTCAGCTTCCCAAAGTGCTAGGATTATAGGCG TGAGCTATCACACCCAGCCTGGAAAGCTTAACTTTTTACTGTGTCACAGC ACTTTTATGCTTGAAGTTTACACAACTATTCTGCAAGAACTGACATGAAC AATTTCTATGATTTTGTTTAAGGGAATGCCCAGTTCCTAAACCAAACTCA GGTCAGCAAAGCCACAACTTCACCCATAGGGAAAAAGCAACACATTGCCC AAGGGTCTCTGAACTGCGTCACTGATGGTCATCGCCCCACAGGGGCCCTC ACCATACGTTTTGGGCATCAGAAGGTAAGTTTTGGCCAAAGTTTTGGATA CTTGATGTGTGGTTTCAACATTT	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0115 a0007c0009t0001g0115	1	386	0.0026	-1222	c.148 others(15): Show c.148-846_259+264del	METTL21A	ENSG00000144401.14	transcript	ENST00000411432.6	protein_coding	3/4			chr2	TogoVar
MS4A1_chr11_60450847_60475752	60460691	GTTAACAT others(1215): Show GTTAACATGAACAAGTGAATGCTAAGGAAACCCAAGATGAAGATTGAACA GAATCTTAAAATGTCTGAGCTGGAAAGGGCCGTATTAATTGCCTTCTCAC TTCAGAAATGAATAAATCATGAAAACTGATAAATAGCATTTACTACACTC TCCCTTTGTCCTAGGCACAATTACATATGTTAACTTATTTATGTCTTACA TCTCAGAGAGGGGTACTGTTCTAACTTTACAGAAGGATAAAATCGAAACT AATGCTCAGCAAAGTACAAAGAACAAGAATAGCAACAAAAATAACTATTT ATTCCAACATGGGTTCTTTGCATACATTTATTTCTTCAATAATATTTATT AAGAAGTAACTAAATCCAAAAATTATTTTAGATCCTGAACAAGAGAGAAC AAAATCTCTACTTTGATGGAACTTCCATTCTGTGGGGAAGAGACTGACAA TAAGCAATTAAATAAATAAGGTAATTTCCTACAGTGATCAATGCCGTAAA GCAATTAAGATAGGATTTTGTAAAAGACAGCAAATAGGAGTACATGTTAT AGATTGAGGGTTCAAGGTAGGCTCCTCTAGGAGCTGACATTTGAGCTACA CCTGAACAAAAAGACACTAGCCATGCACAGACCATGAGCCCAGTTAAGTG TTATAGCAGCCCACGAGATAAGAATTATTATTATTTCAATTTTACAGTTG AACCTGAGGCCCAGAGAATTTAAAGAACTTGCCCAACATCTCAGAACAAA TGGAGGAATCACTATTGAAACCTAGGCAATCTGACTCAGGAGGCCACAGT CTTATATACTGCATTAGAAAGCCTTAGAGAGCCTTTTCTTTTTCTTTGAG ACCGAGTCTCACTCTGTTACCCAGGCTGGAATGCAGTGGCATGATCTCAG CTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCC TCCCGAGTAGCTGGGATTACAGGTGCACACCAACATGCCTGGCTAATTTT TGTATTTGTAGTAGAGATGGGGTTTTGCCACGTTAGCCAGCCCGGTCTCA AACTCCTGACCTCAGGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTTGG ATTACAGGCATGAGCCACCGTGCCCGACCTAGAGAGCCTTCTTGATGTGA CTTGCACAAGGTGGCAGAGTTAGAGACAGAGAGAGGCCTGGAATCGACCC CTCCTGCTTCTACAGATAGTCCT	G G	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG01192.hp1 HG01361.hp2 others(9): Show HG00558.hp2 HG01192.hp1 HG01361.hp2 HG01928.hp1 HG01981.hp2 HG02040.hp1 HG02074.hp2 HG02273.hp2 NA18998.hp2 NA19007.hp1 NA19009.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0023 a0001c0001t0008g0008 a0001c0001t0008g0023	12	446	0.0269	-1222	c.-27 others(17): Show c.-279-379_-190-271del	MS4A1	ENSG00000156738.18	transcript	ENST00000345732.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15932469	GGAATGAG others(1213): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0126 a0001c0006t0040g0126	1	386	0.0026	-1220	c.198 others(16): Show c.198+522_198+1741del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
RGPD4_chr2_107821892_107897544	107828275	CCCGACGG others(1213): Show CCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGAC CCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGC GCTGCTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCCGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCG ATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCT GTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGC CCGGCGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCGCTGC TCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGG CGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCATCATGGCT CCTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGAC CCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGC GCTGCTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCCGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTCTGTTGAGGCGGCGGCCTCTACCCGGCCCGGCGGCGGCCTCG ATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCT GTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGG CGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGG CGGCCTCGACCCGGCCCGGCGGCGGCCTCCATGGCTCAGGCGTCATGGCT CCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTTGAC CCGGCCCGGCGGCGGCCTGGATGGCTCAGGCGTCATGGCTCCCGATGGGC GCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCTGGCCCGGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTACCGACGGGCGCTGCTCCCT GGCGCGCTCTGTTGAGGCGGCGGCCTCTACCTGGCCCGGCGGCGGCCTCG ATGGCTCAGGCGTCATGGCTA	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	374	0.0027	-1220	c.72+ others(15): Show c.72+1241_72+2460del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(1213): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18953.hp2 HG03669.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0155 a0001c0002t0001 a0001c0001t0155 a0001c0002t0001	a0001c0001t0155g0342 a0001c0002t0001g0105 a0001c0001t0155g0342 a0001c0002t0001g0105	2	346	0.0058	-1220	c.181 others(21): Show c.1811-13729_1811-12510del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
TUBGCP2_chr10_133273635_133313872	133291240	TCCGTGTC others(1212): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCC CATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCG TGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCC CGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGT CCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTC CGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTG TCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTC CCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCG TGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCC CCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTGT CCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTC CCCCATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp1 HG02922.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0218 a0001c0001t0002g0219 a0001c0001t0001g0218 a0001c0001t0002g0219	2	284	0.0070	-1219	c.121 others(17): Show c.1214+40_1214+1258del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89429152	ACGTTCTA others(1211): Show ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACAC AGCAGGGACTCTCAACTCTCAGGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAAC TCTCAGGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGC TCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGT TCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTAC ACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGG TACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGC GCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGAC GTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGTTCTAGT ACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCA GGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCT CAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTC GCGCTCAGTCGTTCTAGTACATAGCAGGGACTCTCAACTCTCAGGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTA GTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCACGCTCAGT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18956.hp1 NA18953.hp1 NA18956.hp1	a0001 a0032 a0001 a0032	a0001c0001 a0032c0050 a0001c0001 a0032c0050	a0001c0001t0001 a0032c0050t0001 a0001c0001t0001 a0032c0050t0001	a0001c0001t0001g0069 a0032c0050t0001g0067 a0001c0001t0001g0069 a0032c0050t0001g0067	2	310	0.0065	-1218	c.-14 others(21): Show c.-144-12002_-144-10785del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
GRTP1_chr13_113319163_113369130	113346243	CCTCTGTG others(1211): Show CCTCTGTGGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATC TGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCG AGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACC TCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCA GGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGAC AGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTC TGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCG GGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTG TGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGG AGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAG CAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTG TGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGG AGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCG GATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTG GCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAG GACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGA CCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC AGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGA CCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGA CCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGC TGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACC TCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACC CGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCAGACCCAGGAGGAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	288	0.0035	-1218	c.466 others(17): Show c.466-2502_466-1285del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
ADARB2_chr10_1172313_1742525	1541566	GGACCCTG others(1210): Show GGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCC TGGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGC CGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCCGTCCAGACCC CACTCAGACGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCA GACGCAGTTCGGACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTA GTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAG ACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTAGTTCAGACCCTG GATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCAC AGCCGTCCAGACTCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCGT CCAGACCCCACTCAGACTCAGTTCAGACCCTGGATCCGTCCAGACCCCAC TCACACTCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGAC GCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGTAGTT CAGACCCTGGATCACAGCCGCCCAGACCACACTCAGATATAGTTCAGACC CTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGAT CACAGCCGCCCAGACCGCACTCAGATGTAGTTCAGACCCTGGATCACAGC CGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCA GACTCCACTCAGACTCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCC ACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCGCACTCAG ATGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAG TTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGA CCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGG ATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACA GCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGTC CAGACCCCACTCAGACGCAGTTCGGACCCCGGATCACAGCCGCCCAGACC CCACTCAGACGCAGTTCA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0030 a0001c0001t0017g0030	1	106	0.0094	-1217	c.101 others(21): Show c.101-163623_101-162407del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANKRD46_chr8_100515772_100564759	100543054	GTTCCTAT others(1210): Show GTTCCTATATCAGTTTCCCATGGAGCTATTTTTGCAAACTGCCCAGAGAC CAGACACCTGCCCATTGTGACTAACATGGGAAAGAATTGTCAAAGACTAT GGATCTTAAGTTTTAATAGCTACATAGCTCTTCCAGATTTGCTGCTTTCC AGGAAATGTCTTTAATAAACAGGCTTTGTTTGTTTAGACACTGTCAATTA AAACTGATTCCCAGTGTTAGCAACTGTTGATACAAACCTTATTTTCGTTT TAATTCTTATTCTCAATCTCAAAACCATTTAATATTTTGCGATTTGTTCT ATAACAAATACTAAGGAAACTGGGAATAAAATGGTAAATTTCTTTATATC AAAAAACAATTTTCTAAATGACTTGTAGATAGGAGCAGGACACAATATAA AACTGTTAAGAACTTGTTTTTAAAAGTTTGAACAACTGCTAAACTTTCGT CCTTGTACTCAAGAGAACTACAGTGTTAAACAAAGATAATTATGATTTAA AAATTATTCTTTAAAATGCTGTCAGAAGATAATGGCTTCACAGTCTTCAA ACAATAGGAGAGTAAGTTTCTTGTTTTTAAATAAATAAATTACACTCTCA GGATTGACGAGCTTTGGATTTGGGGAAATGAACTATAATATGAAATGTTA TATCTTAAACTGTAGAGAAGTATAAGAAAAGACACACAAAAACAAATTAA AGGCAAACTTTCAGGTTTATGGTAGCTATTAAATTTACCACTAATATATC TGCATGTCTTCTTCAGTGATACTATCAAAATAAATCTATTCCAAATACAT CTAAATATTTTTATTCAAATAGTGTCCTTTCATACCATGTCTCTCTGGCC CAAATTTTTCTTTTTAATTATATTTTATTGGATGGTTTCAGGAGTGTAAT TGAAATCATTTAAAGATTAACCCAAGAGTTCTTAATGTCAAAGACCTTTA TGTCCACATCACTTCCATCACTTAGTTGGACTTTGCACACTTAGAACTTA ACTCCACTGCCCAGATCTTGACCTACAACTACCTTTTATATTGCCTTACA CTTTAGGAAATATTTCTCATTTATTCTCTCAATCTCTCCCTCACCCTCCT TTTGGCTACCCCAAGCAGCAAGAAATCTGCCCATACAACCATCCCTAACT CTCTTCAGTCAGCTTCTGGTTCCTTCTAAGGCTCAAAGCAGATCACTTCC ACTTCCACCAGGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	400	0.0025	-1217	c.-13 others(20): Show c.-130-10960_-130-9744del	ANKRD46	ENSG00000186106.11	transcript	ENST00000335659.7	protein_coding	1/4			chr8	TogoVar
CRPPA_chr7_16082525_16426538	16197507	TTTTTTTT others(1210): Show TTTTTTTTTTTTTAAGAAACGGTTTCATCATGTTGCCCTAGCTAATCTGA AACTCCTGGGCTCACGCAATCCTTCCTGCCTCTGCCTCTGCCTCTGAAAA TGCTAAGCAAAAATTGGTAAATTCTTTCATCTGAATTTTATATAATATAA AGTAGTAAGAACTGTAGAACTTCCAACACATAATGACTCCATCCAAATCT CTGCACTAGAGGCAATGTGGGGAAAAGCAAGAGAGATCAGATTGTTACTG TGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTATGTACT AAGAAAAATTCTTCTGCCTTGAGATTCTGTTAATCTATGACCTTACCCCC AACCCCGTGCTCTCTGAAATGTGTGCTGTGTCAACTCAGAGTTAAATGGA TTAAGGGCGGTGCAGGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCA TGCTCCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACAC AAAAACTGCGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAGGTATTG TCCAAGGTTTCTCCCCATGTGATAGTCTGAAATATGGCCTCGTGGGAAGG GAAAGACCTGACCGTCCCCCAGCCCGACACCCGTAAAGGGTCTGTGCTGA GGAGGATTAGTAAAAGAGGAAGGAATGCCTCTTGCAGTTGAGACAAGAGG AAGGCATCTGTCTCCTGCCTGTCCCTGGGCAATGGAATGTCTCGGTATAA AACCCGATTGTATGCTCCATCTACTGAGATAGGGAAAAACCGCCTTAGGG CTGGAGGTGGGACCTGCGGGCAGCAATACTGCTTTGTAAAGCACTGAGAT GTTTATATGTATGCATATCTAAAAGCACAGCACTTAATCCTTTACATTGT CTATGATGCCAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCC ACAATTGTCTTGTGACCCTGACACATCCCCCTCTTTGAGAAACACCCACA GATGATCAATAAATACTAAGGGAACTCAGAGGCTGGCGGGATCCTCCATA TGCTGAACGCTGGTTCCCCGGGTCCCCTTATTTCTTTCTCTATACTTTGT CTCTGTGTCTTTTTCTTTTCCAAATCTCTCGTCCCACCTTACGAGAAACA CCCACAGGTGTGTAGGGGCAACCCACCCCTACAGGATGACCGGTATGCAC TCCCATACTTGCGCAGCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00673.hp1 others(42): Show HG00408.hp2 HG00621.hp2 HG00673.hp1 HG01884.hp2 HG02040.hp2 HG02135.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03927.hp2 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp2 NA18991.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19081.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0001c0001t0020 others(13): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0020 a0001c0001t0032 a0001c0001t0035 a0001c0001t0046 a0001c0001t0066 a0001c0001t0067 a0001c0001t0077 a0002c0002t0002 a0002c0002t0009 a0002c0002t0020 a0002c0002t0033 a0002c0002t0049 a0002c0002t0068 a0002c0002t0078	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(42): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0098 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0009g0030 a0001c0001t0009g0084 a0001c0001t0009g0163 a0001c0001t0009g0165 a0001c0001t0020g0051 a0001c0001t0020g0198 a0001c0001t0032g0028 a0001c0001t0032g0029 a0001c0001t0035g0034 a0001c0001t0035g0097 a0001c0001t0046g0004 a0001c0001t0066g0196 a0001c0001t0067g0022 a0001c0001t0077g0027 a0002c0002t0002g0227 a0002c0002t0002g0231 a0002c0002t0002g0259 a0002c0002t0002g0275 a0002c0002t0009g0225 a0002c0002t0020g0223 a0002c0002t0033g0220 a0002c0002t0033g0271 a0002c0002t0049g0219 a0002c0002t0068g0256 a0002c0002t0078g0228	45	290	0.1552	-1217	c.125 others(21): Show c.1251+17342_1251+18558del	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	9/9			chr7	TogoVar
DMD_chrX_31114222_33216549	32626319	TAGCTGGG others(1210): Show TAGCTGGGCGTGGTGGCAAGCACTTTTTAATCCCGGCTACTCAGGAGGCT GAGGCAGGAGAATCACTTGAACCCGGGGGGACAGAGGTTGCAGTGAGCTG AGATCACACCACTTCACTCCAGCCTGGGTGAAAGAACAAAACTCCGTCTT AAAAAAATAGATAAAAATAACAAAACGATGGCTCAAAAATTCTAGCAAGG TGGTTCTTATAGATAGATTAGTTTTGGTTTTAGCTTAACAATTCTTTATA TGCAACTAGATGCTTCTAGAATGCTGTCATCTGCTTAAATAAGTAATTTT TAAAATCAACTTTGTTTCAGCTTTTGTTTCATTCTCTATTAAGAAAGGTA TTGGGGGCTGGGGAAGGAATAGCATTAGGAGAAATACCTAATGTAAATGA GCTGATGGGTGCAGCAAACCAACATGGCACATGTATACCTATGTATCAAA CCTGCGAGTTGTGCACATGCATCCTAGAAATTAAAGTATAATAATAATAA TAAAAGAGGGAGAGAAAAAAGAAAAGAAATCCAAGATAGGTTAAAAAACA GAAAGTTATTAATTGAGGTAATGTTTAAGTCCGGCTTTTATTCAAACTAT CACAGATAGGTGAATTAGTGGAATTTATATAAATAATGCCTTAATATAAA AAGGTACTAATTGATTAGAATCACTGAGAGAACTTTTCAAAATGACGTCC CAGCCCCATTCCCCAACAATTCAATCAGAATATCTGGGAATGGAGCCCAG GTATTGGTTCTGTAAAAAACTATCCAACCAGGTAATTCGAATGAACATCC AGGGTTGAGAACGATTGTGCCTCTTCCCCGCCCCCCCCCCCGCCCCAGGA CACAGCCATAATTTTTACTTTAGCCCTTGGGTCCTCACAAGTGGCAAATA CCTGGAAAGCTGTATCCAGACAACATGACTTGTTAGGGTTAACATGAACC AGATGCACAGAGGTAACATGGAGACAAAGGATCAGGATGCACAAACATGC GTTTACTTATTTATAAATGACTTCCACAAGTACTAAAATATCTATTATGT ACCCCCAGAAATTACAAATAAAAAAGAAGACTTACTAAAGAGTAATTTTG ATCTTGTAGAATTTGGGGCTTTTAAATATAATTTTTAAATACAAAATAAT AATTGTGTGTCAGAAAAAAAGAGGTATTATTGTAATTAATCCTATTGATT CAGCAACTGATATTAGCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp1 HG02257.hp2 others(4): Show HG01255.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02965.hp1 HG03579.hp1	a0002 a0003 a0029 a0002 a0003 a0029	a0002c0012 a0002c0024 a0002c0052 others(3): Show a0002c0012 a0002c0024 a0002c0052 a0003c0003 a0003c0008 a0029c0044	a0002c0012t0002 a0002c0024t0011 a0002c0052t0025 others(3): Show a0002c0012t0002 a0002c0024t0011 a0002c0052t0025 a0003c0003t0027 a0003c0008t0023 a0029c0044t0014	a0002c0012t0002g0098 a0002c0012t0002g0122 a0002c0024t0011g0016 others(4): Show a0002c0012t0002g0098 a0002c0012t0002g0122 a0002c0024t0011g0016 a0002c0052t0025g0095 a0003c0003t0027g0091 a0003c0008t0023g0005 a0029c0044t0014g0094	7	126	0.0556	-1217	c.133 others(21): Show c.1332-13083_1332-11867del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	11/78			chrX	TogoVar
SERPINF2_chr17_1737871_1760265	1740644	GACAGTGA others(1210): Show GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAAGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTG GACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCCG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02280.hp1 others(12): Show HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG03139.hp1 HG03139.hp2 HG06807.hp1 NA19240.hp1 NA19240.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0014 a0003c0003 a0012c0014	a0003c0003t0001 a0003c0003t0004 a0012c0014t0004 a0003c0003t0001 a0003c0003t0004 a0012c0014t0004	a0003c0003t0001g0013 a0003c0003t0001g0026 a0003c0003t0001g0043 others(7): Show a0003c0003t0001g0013 a0003c0003t0001g0026 a0003c0003t0001g0043 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0004g0013 a0003c0003t0004g0026 a0003c0003t0004g0097 a0003c0003t0004g0101 a0012c0014t0004g0098	15	445	0.0337	-1217	c.-22 others(11): Show c.-2268_-1052del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2226		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740644	GACAGTGA others(1210): Show GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAAGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTG GACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCCG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02280.hp1 others(12): Show HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp2 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0007 a0001c0026 a0001c0036 others(2): Show a0001c0007 a0001c0026 a0001c0036 a0001c0042 a0008c0024	a0001c0007t0001 a0001c0026t0001 a0001c0036t0001 others(2): Show a0001c0007t0001 a0001c0026t0001 a0001c0036t0001 a0001c0042t0001 a0008c0024t0008	a0001c0007t0001g0005 a0001c0026t0001g0028 a0001c0036t0001g0038 others(2): Show a0001c0007t0001g0005 a0001c0026t0001g0028 a0001c0036t0001g0038 a0001c0042t0001g0054 a0008c0024t0008g0023	15	431	0.0348	-1217	c.29 others(11): Show c.2960_*4176del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		2060		chr17	TogoVar
RAB27A_chr15_55197966_55294813	55214252	TGGTGAAA others(1209): Show TGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGT GGTGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATGG CATGAACCCAGGAGGTGGAGCTTGCTGTGAGCCAAGATCACGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACAACAACAACAA CAACAAAAACTGGTTGAGAAACTATCACCTCATTTGAGTGTTTATCCACC CACCTGTGAGTTCTGCAAGGCAGAGTTGCTCCCCTAACTCCACCATGCTC ATATTCTATCATCCTTTTATTTCCTGACTCTAAAATATCTTAATCAGAAA AAAGTTTGTTGGGAAAAATGACATGGTCTTCGCAGTTTTTAAACCTCCTG CTTGCCTCTTAGTTACTGTCAATCTTTTTTCCTCCATCTATCACCTTGCA CACAAAATGAAGATAATGCATCTCTGTCCCTCACTAGTCACATGTAATAT TTGATTAACAACTTGAAGAGGCAATCCTTTGTGACTGGAGTCAATATGTG TTTATTTATCAAGAATCTATAATATTATTGAGCTAAAATCCTGGGGATAG CTTGTGATGCCATTGTTACAAGAATAGAATTTTAGAATGAGATTTTTCAA AATGTAAATTGTTACATTTTCTTCATTATGATCTTTCTCAATTATATCCA TTAAAAATCAGTTAATGTCCACAGAACATTTCTTATACTTAAGGAGAGGG TTTGACCATTCTATCACCTTTCAGAAATACATTACATGAAAAAGCAGTTG AAAAACTCAGATCTCCCGCAACAGAATAAATTGGAAATTTCTTAAAAAGT AGTTGAACAGTAAGCTTTTTTAAAATGCTAAATCACAATAATGTATACTT CATTTTAAAAATTCTCTCAAAATCAGTTACAAATATCTTTCCAACTCCAG AGTCTCCAGCCTCATTTGATTCCTTAATTTTCCTCCACAGCTCCTGAAAA TTACTTCACCATCATTTTTGAGGAATAAATGAGAAAACATAGTGAAAGTA CTTTGAAAACTATAAAACCTGTGCATGGAAGTTATCAACAACATGGATCA ATGGTTAAGAGTCATAACCGGCCGGGCGCGGTGGCTCACGCCTGTCATCC CAGCACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0179 a0001c0001t0020g0179	1	320	0.0031	-1216	c.467 others(17): Show c.467+8421_468-8548del	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
SDHA_chr5_213320_262082	260305	GAGCATTA others(1209): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGC TCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT CAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTC CGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCC TCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCC GTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGT GAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTC CCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGT GTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGG CAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	266	0.0038	-1216	c.38 others(11): Show c.3886_*5101del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3224		chr5	TogoVar
NPIPA2_chr16_14737533_14770462	14767639	CCAACACT others(1208): Show CCAACACTTTGAGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGTTCGA GAGCAGCCTGACCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAGA TTAGCCAGGCATGGTGGCACGCACCTGTAATCCCAGCTACTCGGGAGGCT GAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCGGTGAGCCAG GATCACGCCATTGCAGTCCAGCCTGAGCAACAGAGCAAGACTCTGTCTCG AGACAATAAAAACACACAAAAAATTAACTCGCCATGATGGCACATGCCTA TAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATTCCCTTCAGCCCAG GAGTTTGAGGCTGCAGTGAGCCACTATGATTGTGCCACTGCACTCTAACC TGGGCAAAAGCGAGACCCCAGGCTAGAGTGCATGATTTTGGGTCACTGCA ACCTCCACCTCCCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCTTGAGTA CCTGGGACTACAGGCATGTGCCACCACGCCTGGGTAATTTTTGTATTTTT AGTAGAGACAGGGTTTAGTAGAGACCATGGTGAAACCCCGTCTCTATTAA ACAAATCTCTACTAACCCCATCTCTACAAAAAACAGCTGGGCGTGGTAGT GCACACCTGTAATTCTAGCTACTTGGGAGGCTGAGGCACGAGAATCATTT GCATCTTGGAGGCAGAATTTGCAGTGAGCTGACATCGCACCACTGCGCTC CAGCCGGGATGACAGAGCAAGACCCTGTCTCAAAAAAAAGAAAAAGGAAC AAACAACAGCAACGACAACAAAAAAACCTCTGTGTCAATCACAGCCTACA AGCTAGGGGAGAGGCGGCCGAATTCTGCCCTCTGCTAACTAACTATAGCT TTGTGGAAATGGGTGAGTGGCGTGCCCTTGTGAGCCTCAGGGCCCCATCT GTAAAATGGGCATAACTGTCATGCCCGTCTTTAAGAACAGCCTTGGGGGT AAATGAGTGGAAGTCATGGAAAGATCTCAGCCCACAACCTTCCACAGAAC AGACGCTTCTCACACAGTAAGTAGCAGGAGTGCAGAGGCTGCAGGCATGA ATCCAGCCAGACTGCCTGGGTTCAAGTCCCAGCTCCCACGTCTTGGTAAC TATGTGGCCTCAGACAAGTTACTTAATATTTCTTTTTTTTTTTTTTCAGA CGGAGTTTTGCTCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	205	0.0049	-1215	c.22 others(11): Show c.2227_*3441del	NPIPA2	ENSG00000254852.9	transcript	ENST00000529166.6	protein_coding		2178		chr16	TogoVar
ADARB2_chr10_1172313_1742525	1237498	CTCCCGGT others(1207): Show CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCC CGGTGTTTACTCCCATCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC CCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT TCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCC TCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0016 a0011c0008t0016	a0011c0008t0016g0003 a0011c0008t0016g0003	1	106	0.0094	-1214	c.136 others(19): Show c.1361+3419_1362-3654del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737086	GTGTGAGT others(1207): Show GTGTGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGC ATGTGACCATCCGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGTGACC GTCCGTGTGAGCGTGTGACCATCCGTGAGAGTGTGACCATCCATGTAAGC ATCCGTGTGACCGTGTGAGCGTCCGTGTGAGCGTGTGAGCGTCCGTGTGA GTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGT GTGAGCGTGACCGTCCGTGAGTGTGTGACCGTCCGTGTGAGAGTGTGACC ATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGAGTGT GTGAGCGTCCGTGTGAGTGTGACCACCCATGTGAGCATCTGTGTGACCGT CCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGTGTGAGTGTGTGACC ATTCGTGTGAGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGT GAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCATGTGA GCATCCGTGTGACTGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCC GTGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCC GTGTGAGCGTGACCATCCGTGTGTGTGACCATCCGTGTGAGTGACCATCC ATGTGAGCATCCATGTGACCGTCCGTGTGAGCGTCCGTGTGAGCGTGACT GTCCGTGTGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGA GCATCCGTGTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCATGTGAGC ATCCGTGTGACTGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGT GTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGTGT GAGCGTGTGACCGTCCGTGTGAGTGTGTGACCATCCGTGTGAGAGTGTGA CCATCCATGTGAGCATCCATGTGACCGTCCGTGTGAGCGTGACTGTCCGT GTGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCC GTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCGTGTGAGAGTGTGACC ATCCATTTGAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGAGTGTGACC ATCCATGTGAGCATC	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0255 a0001c0003t0003g0255	1	330	0.0030	-1214	c.603 others(17): Show c.603-6241_603-5028del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
OLFM3_chr1_101797560_102001926	101822807	CCTTATGT others(1207): Show CCTTATGTAAGCAATGTTTACCTATTGTATATTAACCATAAACTCCACAA CTTGAATTATAAAAGCAGAGCATGTAAAATAATTATTTAAGTGCTATGTT AAATAAATAACTTTTCCCTTGCTTAGTCTTATCATGCCCTGCCATTTTGA CTCAAATAGGATGTGGCTAAAAAGATGCATTTCTTGTTATGAGTAAAATA GATCATTCTCTGCTACTTGAAATAGGTAATATGGTTGAAAAGTGTAGAAA TTATTCCTATGACTCCTTATAGAGTAAATTTATTCACCAGATATTTATTG AGTGACTTTTCTTTGCCAGGTAGTTTTCTAGGCATTGGAAGATACAACAT GTAGAGTGAACATGATAGACATTGTTCTTGTCCTCGGAAAAAAAGTCTAG CAAGACACATTATGCTACACATGCAATGATAATGAAACAAGAGAAGTCCA ATCATTAGTGAAATATCAGGATTTGGAAGTGCCTAGCGAGGACACCAGCT TAGTCTGGGAGGGCAATGAATGATTCTAGCAAGACACAACATTTAAACTG AGACCTGACAAATGAATAGTTTATCACATGTGGCAGGTGAAAGTGCGTTG ATGGAGGCAGGGTACATAGGGGAAGGAGTGTTTCAGGAGCAGGAACAAAC AGCATCTTATAACAACTCCATGGTAAGACATTGTAAGGCACACATGACTG GGACTTAGTGTGTGAGGAGAGAAGTGGCAAAAGCTAAGCCTGGAGAAGCA GAAGGGGCCACACATGAAGGGTCACATAAGCCATGGACTGTATCCTACAA CATAAGGAATCCATAGGAGATTTTCAACAGAGCAAAATAATTTCAGATTG ATACTTCAGAAAATCCCTTTGGCAATAATGTGTACAATGAGTTAGAGAGG AATGAAAACTGGAGTCACAGAATCTATTATATATAGTTGATTGTTAGAAG ACCAACTGTAAATGAGAAAATGTAGACTGTGTTTGAGGAGGAATAAAGAA CTGAGGATTCTTGAACATGTGTTTCGGCCTTCAGGTTTACCTTATTTCCT CCTGATTCATTTTGTTGGATTCTCTTAGAAATCCTGGTATGATGACAGTG GAGCCTCCGATGTAGCAATTTCCCACACTATTTTGAGGCTGTGATAACTG AATGCAACATTTTGCATTTTGGATTCCTTTTTATCACTTGAAGCATATTT GTAAAATAGTCTTTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0276 a0001c0001t0009g0276	1	306	0.0033	-1214	c.592 others(17): Show c.592+1005_592+2218del	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	4/5			chr1	TogoVar
BRWD3_chrX_80664503_80814877	80712568	CACCCTGT others(1206): Show CACCCTGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCTGCCCATCGTCTG GGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGC GTCTCTGCCCAGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCC GGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCCGCCCCGT CTGGGATGTGAGGAGCATCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTG AGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCG CCTGGCAACTGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCC GCCCCGTCTGAGAAGTGAGGAGCTCCTCCGCCCGGCACCCACCCCGTCTG GGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGT GGGGGGGCCAGCCCCCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGTTG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCA TGATGACAATGGCGGTTTTGTGGAATAGAAAAGGGGGAAAGGTGGGGAAA AGATTGAGAAATCGGATGGTTGCTGTGTCTGTGTAGAAAGAAGTAGACAT GGGAGACTTTTCGTTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGG ATCCTGTTGATCTATGACCTTAACCCCAACCCTGTGCTCTCTGAAACATG TGCTGTGTCCACTCAGAGTTAAATGGATTAAGGGCGGTGCAAGATGTGCT TTGTTAAACAGATGCTTGAAGGCAGCATGCTCCTTAAGAGTCATCACCAC TCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGG TCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGA CCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGA GACACCCAAGAATGATCAATAAAAAAATAAAAAATAAAAAAAACAAATAA TAAATCTTAGATTACTTCTAACAACAGAAGGGAAAGGACTCAAAACAATC TACATACAAAAAGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG02280.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0126 a0001c0001t0008g0123 a0001c0001t0008g0126	2	265	0.0076	-1213	c.232 others(19): Show c.2325+2376_2326-2992del	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	20/40			chrX	TogoVar
ROBO2_chr3_77035099_77654964	77294550	AAGACATA others(1206): Show AAGACATAAAGTAAAATTGACGGTTAAACAGGTAAGCTGAGGCTAGATCA TCAAAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGA TCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCT AGATCACCAAAGACATGAAGTAAAATTGATGGTTAAACGGGTAAGCTGAG GCTAGATCACCCCAGACACAAAGTAAAATTGACGGTTAAACGGGTAAGCT GAGGCTAGATCACCCCAGACATAAAGTAAAATTAATGGTTAAACGGGAAG TTGAGGCTAGAACAGTAAAGACATAAAGTAAAATTGACAGTTAAACAGGT AAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTTAAACG AGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAATTGACGGTTAA ACGGATAAGCTGAGGCTAGATCACCAAAGACTTAAAGAAAAATTGATGCT TAAACGGGTAAACTGAGGCTAGAGCACTAAAGACATAAAGTAAATTTGAC GGTTAAAAAGGTAAGCTGAGGCTAGGTCACCCCAGATATAAAGTAAAATT GACGGTTAAACGGGTAAGCTGAGGCTAGATCACTAAAGACATAAAGTAAA ATTGACGATTAAACGGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTA AAATTGACGATTAAACGGTAAGCTGAGGCTAGATCACCAAAGACATTAAG TAAAATTGACGGCTAAACGGGTAAGCTGAGGCTAGATCACCAAAGACATA AAGTAAAATTGATGGTTAAATGGGTAAGCTGAGGCTAGAGCACTAAAGAC ATAAAGTAAAATTGATGGTTAAATGGGAAGTTGAGGCTAGAACAGTAAAG ACATAAAGTAAAATTGACGGTTAAATGGGTAAGCTGAGGCTAGATCACCC CAGACATAAAGTAAATTGACGGTTAAATGGGTAAGCTGAGGCTAGATCAC CAAAGTCATAAAGTAAAATTGACTGTTAAACGGGTAAGCTGAGGCTAGAT CACCCCACACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTA GATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGAAGTTGAGGC TAGATCACTAAAGACATAAAGTGAAATTGACGGTTAAACGGGTAAGCTGA GGCTAGATCACCCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0102 a0001c0002t0032g0102	1	160	0.0063	-1213	c.389 others(21): Show c.389-182844_389-181632del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
STARD13_chr13_33098137_33290755	33161841	TAAAGGCC others(1206): Show TAAAGGCCCTTCTTACATGGTGGTGACAAGAGAAAATGAGGAAGATGCAA AAGCGGAAACCCCTGATAAAACCTTCAGATCTTGTGAGACTTATACACTA CCACAAGAACAGTATGGGGGAAACTGCCCCCCATGATTCAAATTATCTCC CACCGGGTCCCTCCTATAACATGTGGCAATTATGGGAATACAATTCAAGA TGAGATTTGGGTGGGGACACAGCCAAACCATATCATTCCACCTCTTGCTC CTCCAAATCTCATGTCCTCACATTTCAAAACCAGTCATGCCTTCCCAACA GTCCCCCAAAGTCTTAACTCATTTCAGCATTAACCCAAAAGTCCATAGTC CAAAGTCTCATATGAGACAAGGCAAGCCCCTTCTGCCTACGACACAGGGC ACCAAGTGCCTAGGCTGCAAACAGATAAGGACCCTGGGCCTGGCCCATGA AACCAGTTTTTCCTCCTAGACTTCCAGGTCTATGATAGGAGGGACTGCTG TGAAGACCTATGACATGTCCTGGAGACATTTTCCCCATTGTCTTGGGGAT TACCATTTGGCTCCTTGACACTTATGCAAATTTCTTCAGCCAGCTTGAAT TTCTCCTCAGAAAATGTGTTTTTCTTTTCTACTGCATCGTCAGGCTGCAA ATTTTCTGAACTTTTATGCTCTGTTTCCTTTTTAAAATGGAATGCCTTTA ACAGCACCCAAGTCACCTCTTGAATGCTCTGTTTGCTGCTTAGAAATTTC TTCTGCCAGATACCCTAAATCATCCTTTCAAGGGCAGGGGCAAAATGCCA CCAGTCTCTTTGCTAAAACATAACAAGAGTCACCTTTGCTCCTGTTCCCA AGAAGTTCCTCATGTCCATCTGAGACAACCTCAACCTGGACTTTATTATT CATATCACTATCAGCATTTTTTTTTTTCAAAGCCAATCAACAAGTTTCTA GGAGGTTCCAAACTTTCCCACATTTTCCTGTCTTCTTCTGAGCCTTCCAC ACTCTTTCAACTTCTGCCTGATACCCAGTTCCAAAGTTGTTTCCACATTT TCAGGTATCTTTTCAGAAACACCCCACTCTCGGTACCAATTTATTGTATT AGTCCATTTTCACACTGCTGATAAAGACATACCCAAGACTGGGAAGAAAA AGAGGTTTAATTGGACTTACAGTTCCACATGGCTGGGGAGGCCTCAGAAT CATGGCGGGAGGCA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	302	0.0033	-1213	c.323 others(17): Show c.323+2283_323+3495del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	3/13			chr13	TogoVar
UNC119B_chr12_120705458_120728640	120714377	GTGGCACA others(1206): Show GTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGCT TCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGCCCACCACCA TGCCTAGCTAATTTCTGTATTTTTAATAGAGACGGGATTTCACCATGTTG GTCAGGCTGGTGTCAGACGCCTGACCTTTGATTCGCCTGCCTTGGTCTCC CAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCTGGTTGCTTATGGG TAGTTTTTTATTGGGATGGTCAGATCAAGACCAGCTAGCTTCCTGGGTCT GTGGTGTTCTCATCTCTAAGCCACATATCACAGTACCTGGGACATTGCAA GGACTCCAGGCCTACTACAGGTATGTGGATTTGGATTAGACTCAAGAGTT GTCATTTCAATATAAGACGGAACTGTTTCAAGAAGGTCAGCTGAAGATAC TGTAAAGTATCTTGGTTTTCAGTCTCTCTAGTTTTTACATTTAAGGATCT TGATTCACTTGTAATATTCCCCACATTGAGGCTGGGTGCGGTGGATCACA CCTGTAATTCTAGCACTTCGGGAGGCTGAGGCAGGCAGATCACTTGAGCC CCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTGTACA AAAAATACAAAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGGTCCCA GCTACTCAGGAGGCTGAGGTGGAAGGATGGCTTGAGCCTGGGAGATCAAG GCTGCAGTGAGCCGTGATCACTGCATTGCACTCCAGCAAAGGTGACAGAG TGAGACCCTATCTCAAAATAAATCAATAAATATAAACAACAGATTATCCT CACACTGAATCACTACCTTTCTGCAGCACTTGTTCTGATGAATTTGAATC CCCAAGATTTGCTGTCTCTCTGAGTCACATTGTTGGAGCCAGGGTTTTAG AGTCTCTGGGGGTGAACCCCTACTCAGCCTGGTTGCCCAGTCGCTCTTGG GCTTGTCAAAAGCAGAGATGTTTGATGCTGAAAAAGTCTTCTCTTATGTT GTACTCATGTACAGCTTAGACCTGGAGAAAATATCCTCACTGGACACTGG AGGGTACTAACTCCTATTCACATTAGAATGCTTGTTCTCTGATTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCC AGGCTGGAGTGCAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0045 a0001c0001t0019g0045	1	398	0.0025	-1213	c.358 others(17): Show c.358+1002_359-1027del	UNC119B	ENSG00000175970.11	transcript	ENST00000344651.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
S1PR4_chr19_3173769_3185332	3174555	TCTCATGG others(1205): Show TCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGCCCTCATGGGAC GCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCT CATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCT GTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGG GACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCC CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGC CTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCA TGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGT GCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGG GACACCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTT CTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGCCCTCATGGGACG CCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGTTCTC ATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTG TGCCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGCCCTCATGG GACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGT TCTCACGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACG CCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCT CATGGGACACCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCT GCGTTCTCATGGGACGCCTGCATTCTCATGGGACGCCTGTGCCCTCATGG GACACCTGTGTTCTCATGGGACACCTGTGTTCTCATGGGATGCCTGTGCC CTCATGGGATGCCTGTACCCCTCATGGGACGCCTGTGTTCTCATGGGATG CCTGTACCCTCATGGGACGCCTGTACCCCTCATGGGACATCTGTGCTCTC ATGGGATGCCTGTGCCCCTCATGGGATGCCTGTGCCCTCATGGGACGCCT GCATTCTCATGGGACACCTGTGCCCTCATGGGATGCCTGTACCCTCATGG GACGCCTGTGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03540.hp1 HG01515.hp2 HG01517.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	418	0.0072	-1212	c.-42 others(11): Show c.-4237_-3026del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4213		chr19	TogoVar
SERPINB12_chr18_63537369_63574329	63548922	CTGAAGAA others(1205): Show CTGAAGAAATAATATGAAGGGAGATAAAAGCTATATTTATGACAATGTTT ATCGTAGAATTATTCATATTAATAAAAACTGGGAAGCTAATTTAAGTATC TAGCAATATGATGTTAGTTTAAACATTTAGATAAGTCAGTATAATGAGAT ATTATAAGGCCATTAAAAGAACATCTATGAAGACAGTATTAGGATAAACA CTTAAGATGCAATTTGAAGTGAAAACAAGTGAACATAAAATGTTCATATA AACAGGCACGTACACACACATCAATGCAGTGATTGAGAGATTGGAAAGCA CACGGAAAAATAAAGGCGATTTATTTTTCAGTATTGTGAGGGCAAAATTC CTCATTACTATTATTCTGCCATCTGTATAACAAATTAGACCTTGAGAATA AAATTCCTTCTTCTACTTCATTAGAAGTTAAATCGTGAATCCCTTACTTG GAAAATATTATAGGCAAAAATATGATAGTATTTGTATTGATATAAAATGA ATTTTTTTCTTTTTCTTCTGACTAAGAACTGCTTATCTTCTCTTTCCTAT ATAGCTATGGTCAGTAGGAGGTGACATTGTGGATAGTACATGGGAGCTAT CATGTAAGTCACTCCCAATTAGGCTACGATTGTTTGCAATCTATTTAGGA TACATTTGCACAGATTTCAATGCAATTTGAGAAGGATTTTTTGAGTAATT TTTCAGTCTAGAGAAGCAACCCCCATAAAGATTGTAGGAATCTTTGGAGG ACAAACTGGAGCTTGAGATGTGCCTTCCAGAGAGGGAGTTCACGGCCGTC CTGAGATGGACTCTCAGTGCTAGGAGGTCCTTTCTACAACCAGTGGTCTT GGTAAGAGACACAAACAAGACATGGACCTGCTGGTGACATCTGCATCCCA CAGAGCCACATGGTGGTCACTCAGGACATGGCTTTTGTGAGCACAAGTGT TATCTGCTCCAGAGGGTGGCCTGGTATAGGAGGAAAGAGGTAGCTTTGAA ATCACACTGAAAGAACTGATTTGCACACCACTTGTGCCACGTAGTGGTTG GAAGTACAATGAAAATTATTTCTAACTTACAGGATTTTTTGAAAAATAGA GACAATATTTGTGAAATGCCAGACATATCACAAGCTCAAACTGAACAGTA GCTATTAGTAGTATAACATCATTGTGGATAGAGTTAGCACCAATTACTTA AGCTGAATGAATT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	402	0.0025	-1212	c.-19 others(17): Show c.-19+6432_-18-6007del	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393179	GGGGGCAG others(1205): Show GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0267 a0001c0001t0044g0267	1	346	0.0029	-1212	c.181 others(21): Show c.1811-14088_1811-12877del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
PDE1A_chr2_182135041_182432036	182225673	TTTTGGGT others(1204): Show TTTTGGGTTAATGTATGCACTGCACCTATCATGTCTTGTCATATGGTAAA ATAAAGAATAAATGGCATTTTGCTAGGAACTTACTATGTTAAATGAATTG ATAAAGGCATTAAATCTGGGAAATAATAGCTAACATATCATTAGTGATTG TAATTCATGTACAAATGCCTCACAACTGGATGAGTGAAGCAGAAATAATT TTCAGAGCCAAAAGAAGTTAATATAACTAGCTGTTCTGTGTTCATAGACA CATTTAATTGTGAGTCATTAAAAGGAAGAAAGTTACCTTATAGAGGTCTG AATTGGGATTGAGCCTCCAATGTTCCCAATGAAACTATGGAACTAAACAC CATGAAATGAATAGCAATTGAAGTTAAACTAGTTTTGTACCCTAGAAACC CATTGTTTTATTAAAGAAAATGGAAAAAAACCACTTATTTAAATTTTTGA GTGGGTTCAAATTATGTATTTATAAATATAGCTGTGGTTTTAAAAAAGGC AGCATTCATTATCTACTATGATAACACAGAATATAAACTGTCAATAGTAA AAAGAAATTAAATTAGAAAATCAGAGATGGAATTAATTAGTGATTGACTC ATAAATATTTACAATTATTATCTTGCTAGCTGTGAAAATTTATTATAAAT ACATTTCCTGTTTTTACTTTGGTTCATTTCTGCCTCCCATAAATAGTACT TTCTCCACAAATCCCCCTTACTTATTTCTGCACTATGGACTATATCATTA AGTTCCACTACAAACTAATATAGGAAGAGAGGAAACACTGAACTTTCACA CTTAATTTAAAAACACATCTACTTTGCATTAGCAAAAGTAGAATTCTGGA CTGATTGTTAGTTCCTTAGCTGCTGATTCATTTTGTGCTGGTATCAGAAG GAATTCTAACTCAGAAAACAGGTGCTTAAATTCATAAATTTTATAAATGA CTCCTGAGGGCAAGCCAGAGAGAACGAGGTTAAATCCTGTCACTCTTCCC AACTACAGCACTGGTCAATACAAATCCAAGGTTCTTCTGATTCCTAATAG GCAGAAATAAAGGGTTAAGAGGATAAATCATGAGCAATGCAACACTGTAT TTCATCAGAATTTTAGGTTGTATTTTGTCTGCAGAAATGCTCAGGTTGGC TTACTCTAGAGCGGGCAGTCATCAACTTATAAGGAGGTATTGACTGCTAT TAATAACATGTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02622.hp1 others(10): Show HG02055.hp1 HG02109.hp1 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 a0001c0001t0026	a0001c0001t0002g0232 a0001c0001t0004g0091 a0001c0001t0006g0017 others(10): Show a0001c0001t0002g0232 a0001c0001t0004g0091 a0001c0001t0006g0017 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0244 a0001c0001t0006g0263 a0001c0001t0008g0105 a0001c0001t0009g0236 a0001c0001t0009g0242 a0001c0001t0011g0052 a0001c0001t0023g0124 a0001c0001t0026g0005	13	264	0.0492	-1211	c.676 others(17): Show c.676-2920_676-1710del	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	6/14			chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46169743	CCCCTGCT others(1204): Show CCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTG TGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCT GTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGA GGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGC TCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCAT CCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATG GGGAGGAGCCTCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTC CTGCTTTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAG CATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTG GATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGA GCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTC TGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATC CTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCC AGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCT CCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGT GAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCT GTGGATGTGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGA GGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCTTCCCT GCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAA CATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTG GTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGA GCCCTCTGCTCTCTGAACATCCTCTGTGGATGGGGAGGAGCCTCCCTGCT CTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAACAT CCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGAT GGGGAGGAGCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp2 HG02055.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0186 a0001c0001t0011g0187 a0001c0001t0011g0186 a0001c0001t0011g0187	2	251	0.0080	-1211	c.194 others(17): Show c.194-2296_194-1086del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
DLGAP2_chr8_732628_1713476	1013905	TGACCAGG others(1203): Show TGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCC TCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCA GGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCAC TGTGTGTGTGACCAGGACAGACGATGCCTCCACTGCGTGAGACCAGGACA GACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGT GTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACG ACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGT GTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACC AGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCAC TGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACA GACGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTG TGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGC CTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCC ACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGA CAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGGCGCCTCCACTGT GTGTGTGACCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGACGAC GCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGT GACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCT CCACTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-1210	c.73+ others(19): Show c.73+105955_73+107164del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565750	ACTCTGTC others(1203): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20300.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0058 a0001c0001t0001g0012 a0001c0001t0001g0058	2	340	0.0059	-1210	c.641 others(16): Show c.641-1806_641-597del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
SDC2_chr8_96488813_96616790	96508477	AGCAAGAC others(1203): Show AGCAAGACTCCATCTCAAAAAAAAGAAAAAAAAAGATTATTGGTTTATAA ATTTTATCATAACACAAATGTATTTGAGTCAAGCTTTTTCAGAAAAATAA GTCTGTGAGATATTTTTAAGGAAAGAATTTTATTAAAAGGCAGTAACATT AAAAATTACCATTACCACAGCCTTCTCCTACTATAGATAGGCATTTTCCA TTCATTGTCTATAACTGTCTCACAACTGCTAGGCGGTATTACTTGCCAAG GCTGCATTTTATGTGGCCCAGCACAAGTTAGAGCCTCAGTTTTTCTAGCT TTAAATAGTCTTTCTATGATACTGTAATCTTTCAAGAGAGCAGTGAAAGT GTCTAACTGTATCACCAACTGTTTAATGTAGTCCAATGGGTACAACCCTG GATCATGAAGTGTCTAATGGTTGCAGCCTCAAATCATGAAGTATCTAATG GATGGTTGCAGCCCCGAATCATGAAGTGTCAGAATCTTCCTTTTCATTGG TTGGCCTAATCTTCCAGGTCACTGATATTCTGATTTCTTTACCAACTTTT AGCATATTGCTTTAATGGCTTCTCTCTGCAAACTTCAGTCTGGTAATGGG AGAACTAAGAGGTAGAATTAATGGAACCTCTCTAAATCTCAGCTCTGCCA ATTTCTGGACTTGGGCAGGTGATTTAACCTCTCTATGCTTCCATTTTCAC ATCTGTATAAAGGAGATTAGTCATAGTAGCCACCTCATAGAGGTGTTGTG AGGGCTAATGCCTTAATTAATGGGTGTCAAGCAGTAATAAGAGTGCGCAG GATAGAGCCTGCGCTAGACTCTCAGTGTTGATGATGATTGAAATGGACAG CTAATTGGATGTACTGACCAAAGAAGACAGTGTCAATAGTCTTTTGAGGT TTTGAACATGAGGCAGAGAAGACTGATGGTGCCACTGACCAGATCAGGAG GACAGACCGATTTTTTTCCTCTTCTTTTTGTGGCTCTTGTGTTTTGGTGA AAGGAGGAGGCATTTTGGTTTCTCTAGGTTTTCCATCTGGGTAGTGGAGG GCATATTCTCCATCACGGGTTTTCAGCCCTTGCTGCCGATTACATAAACT TGGGGAGCTTTTAAAAACTATTCATGCCTTGGCCCCACTCCAGACAATTA AATCAAAATCTATGTGGTTGGGGTCCAGCTCCCTGTGAAAGCTTATTCTC ACTTCCAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(46): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp2 HG02148.hp1 HG02280.hp1 HG02683.hp1 HG02717.hp2 HG02895.hp1 HG03017.hp1 HG03098.hp2 HG03540.hp1 HG03834.hp2 HG04204.hp2 NA18941.hp1 NA18956.hp2 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19063.hp1 NA19067.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 a0002c0005t0004 a0003c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0033 others(46): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0237 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0056 a0001c0001t0009g0029 a0001c0001t0009g0030 a0001c0001t0013g0049 a0001c0001t0014g0057 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0050 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0059 a0002c0002t0001g0025 a0002c0002t0001g0035 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0071 a0002c0002t0003g0231 a0002c0005t0004g0048 a0003c0004t0001g0007 a0003c0004t0001g0061 a0003c0004t0001g0066 a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0004t0001g0069	49	334	0.1467	-1210	c.60+ others(17): Show c.60+14149_60+15358del	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUBGCP2_chr10_133273635_133313872	133291252	ATGTCCCT others(1203): Show ATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCG TGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCC CGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTC CCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCG TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCG CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCC CTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTC CGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCG TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCA CCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTC CCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCC TCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTG TCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGT GTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCATGTCCCT CCGTGTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18612.hp1 NA18943.hp1 others(3): Show HG00621.hp1 NA18612.hp1 NA18943.hp1 NA19004.hp2 NA19010.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0148 others(3): Show a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0004g0147	6	284	0.0211	-1210	c.121 others(17): Show c.1214+37_1214+1246del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291266	CCCCCATG others(1202): Show CCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG TGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCC TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACC GTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCC CATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGA GCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGT CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCC CATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCC GTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCAT GTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCC GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCG TGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCC CTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCC TCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACACTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGT CCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA21309.hp1 HG02523.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0002c0016t0002 a0001c0001t0001 a0002c0016t0002	a0001c0001t0001g0133 a0002c0016t0002g0076 a0001c0001t0001g0133 a0002c0016t0002g0076	2	284	0.0070	-1209	c.121 others(17): Show c.1214+24_1214+1232del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
DPH7_chr9_137549444_137583925	137565804	GGGGTGAC others(1201): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	340	0.0029	-1208	c.641 others(16): Show c.641-1858_641-651del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
HS2ST1_chr1_86909635_87114982	87057750	CTGAGGCA others(1201): Show CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCT GAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCT CAAAAAAAGAAAAAGAGAGAGAAAAAAAACTGTATTTTTTGTCTTAAGCT AAACAAATACATCTGGGTGAAACTGAATAAAATAGGATTGTGGGAGAATA AGTAGGCATCCTACTCCCTTCCTCCCACCCAGTTGTTACTGGCCTGCTTC TCTCTCTATTTCTGCTTCTTTCGATTTTGTTTTAGCCTCGGGGTGAGTGG GTGGAGGGAGTCCAAAAACACATCTGTACTGTAGAGGAGAAATTGATAGC ATAGCTTTATGGAACTTATCTCAGGGTTATGCAATCCAGAGGTCCCCTGA TTTCAGCTCTCATCAGTGCAGGAATCCTTTTTCCATCATTCTTTGACAGG TCCTCATGCAACCTCTATATGAGTATCTCCAGAGACTAATAACTTACCAC CCCCTAAACTGCCTGTGTCTTTACTTTGCACTACTAATTATTTGAAAGCC CGTTCTCTCTTGAGCCACAGTCATATCTTTTTTTCTGGAGTAATGCTACA AAAAGGATTCTGCCTCTTTTTCACAATAACTTTTCAAGTATTTCAAGAGA CTGTTAGTCATTTTTATGGATTTTCTCTTAGCTAAGTGCACTGTTTTGTT TTGTTTTTTTTTAAGTTTTTTATGTGGCATGATCCATCCAGCTCATTCCC ATTCTGGAGTACTCTAGCTTTTAACGTGTGCCTGAAATGACACATAATAG CCCTGTGTGACTAAATACAAATTTCTTAGGAACTGTTCCTTCCTGTGACT TGAAACATTAATTACTGTGTTTTGGTTAGGAGTATAAGCTTTGGTATCAG ACAGATGAGGGTGTGAATTCTGACTTTTTTCCCCTGTAATTCATATCTCT GAGTCTAAATTCCGTAATGTTACCATATAGGATTATTGCAAGAATTAGGT GAAGTAATGTACATTTAAACATGAACCGTTGGCTGGGTGCGGTGGCTCAC GACTGTAATCCTGGCACTTTGGGAGGCCGAGGCGGGGAATCATGAGGTCA GGAGATCAAACCATCCTGGCTAACATGGTGAAACTCCATCTCTACTAAAA ATACAAAAAATTAGCCAGGCGTGGTAGCAGGTGCCTGTAGTCCCAGCTAC TCGGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	154	0.0065	-1208	c.125 others(19): Show c.125-15158_125-13951del	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
UNKL_chr16_1358205_1419704	1372851	TACACTGC others(1201): Show TACACTGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGC CGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGG ACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACA CAGGGACTGCCGGCCAACACCGCAGAGACCTCAGCAGCGTGGAGCACACC ACACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAGCAGCATGGAAC ACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCAT GGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACC TCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAG AGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCG CACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCGGCCAA CACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCG GCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGGAC TGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACA GGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACC GCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGC ACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGT GGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACCGCACAGAGACC TCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCACAG AGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCG CACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAA CACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCG GCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGAC TGCCGGCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0004 others(21): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0027 a0001c0028 a0002c0002 a0002c0007 a0002c0010 a0002c0015 a0002c0019 a0002c0020 a0003c0005 a0005c0016 a0006c0018 a0007c0021 a0008c0022 a0009c0023 a0010c0025 a0011c0026 a0012c0024 a0013c0029 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0025 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0049 a0001c0001t0052 a0001c0001t0056 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0003t0010 a0001c0003t0012 a0001c0003t0013 a0001c0003t0026 a0001c0003t0046 a0001c0003t0067 a0001c0004t0001 a0001c0004t0036 a0001c0004t0045 a0001c0008t0027 a0001c0009t0024 a0001c0009t0043 a0001c0027t0019 a0001c0028t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0016 a0002c0002t0023 a0002c0002t0031 a0002c0002t0033 a0002c0002t0048 a0002c0002t0057 a0002c0002t0062 a0002c0002t0069 a0002c0007t0003 a0002c0007t0020 a0002c0007t0044 a0002c0007t0051 a0002c0010t0001 a0002c0015t0063 a0002c0019t0008 a0002c0020t0001 a0003c0005t0003 a0005c0016t0012 a0006c0018t0001 a0007c0021t0047 a0008c0022t0016 a0009c0023t0050 a0010c0025t0003 a0011c0026t0004 a0012c0024t0035 a0013c0029t0002 a0014c0017t0003	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0033 others(224): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0219 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0283 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0260 a0001c0001t0002g0270 a0001c0001t0002g0294 a0001c0001t0003g0017 a0001c0001t0003g0256 a0001c0001t0003g0274 a0001c0001t0003g0292 a0001c0001t0004g0079 a0001c0001t0004g0103 a0001c0001t0004g0169 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0287 a0001c0001t0004g0306 a0001c0001t0005g0175 a0001c0001t0008g0265 a0001c0001t0010g0061 a0001c0001t0010g0180 a0001c0001t0013g0019 a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0014g0286 a0001c0001t0014g0288 a0001c0001t0014g0289 a0001c0001t0014g0290 a0001c0001t0015g0068 a0001c0001t0015g0088 a0001c0001t0015g0156 a0001c0001t0015g0158 a0001c0001t0016g0155 a0001c0001t0016g0157 a0001c0001t0018g0213 a0001c0001t0018g0255 a0001c0001t0018g0273 a0001c0001t0019g0187 a0001c0001t0022g0249 a0001c0001t0022g0250 a0001c0001t0025g0304 a0001c0001t0025g0305 a0001c0001t0037g0152 a0001c0001t0038g0163 a0001c0001t0041g0205 a0001c0001t0042g0303 a0001c0001t0049g0094 a0001c0001t0052g0162 a0001c0001t0056g0268 a0001c0001t0061g0128 a0001c0001t0064g0042 a0001c0001t0065g0148 a0001c0001t0066g0209 a0001c0003t0010g0055 a0001c0003t0010g0056 a0001c0003t0010g0057 a0001c0003t0010g0058 a0001c0003t0012g0053 a0001c0003t0012g0054 a0001c0003t0012g0060 a0001c0003t0013g0179 a0001c0003t0026g0052 a0001c0003t0026g0172 a0001c0003t0046g0285 a0001c0003t0067g0015 a0001c0004t0001g0080 a0001c0004t0001g0082 a0001c0004t0001g0123 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0001g0126 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0170 a0001c0004t0001g0262 a0001c0004t0001g0266 a0001c0004t0036g0115 a0001c0004t0045g0166 a0001c0008t0027g0009 a0001c0009t0024g0253 a0001c0009t0024g0254 a0001c0009t0043g0104 a0001c0027t0019g0186 a0001c0028t0003g0206 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0067 a0002c0002t0001g0071 a0002c0002t0001g0117 a0002c0002t0001g0122 a0002c0002t0001g0130 a0002c0002t0001g0147 a0002c0002t0001g0160 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0202 a0002c0002t0001g0239 a0002c0002t0001g0272 a0002c0002t0002g0040 a0002c0002t0003g0041 a0002c0002t0008g0029 a0002c0002t0008g0065 a0002c0002t0008g0085 a0002c0002t0008g0144 a0002c0002t0016g0153 a0002c0002t0023g0271 a0002c0002t0023g0291 a0002c0002t0031g0090 a0002c0002t0031g0207 a0002c0002t0033g0049 a0002c0002t0048g0066 a0002c0002t0057g0154 a0002c0002t0062g0086 a0002c0002t0069g0190 a0002c0007t0003g0107 a0002c0007t0003g0111 a0002c0007t0003g0113 a0002c0007t0020g0072 a0002c0007t0044g0109 a0002c0007t0051g0108 a0002c0010t0001g0177 a0002c0010t0001g0261 a0002c0015t0063g0002 a0002c0019t0008g0245 a0002c0020t0001g0035 a0003c0005t0003g0176 a0003c0005t0003g0178 a0003c0005t0003g0200 a0003c0005t0003g0210 a0003c0005t0003g0211 a0003c0005t0003g0212 a0003c0005t0003g0214 a0003c0005t0003g0215 a0003c0005t0003g0216 a0003c0005t0003g0218 a0005c0016t0012g0018 a0006c0018t0001g0087 a0007c0021t0047g0112 a0008c0022t0016g0151 a0009c0023t0050g0102 a0010c0025t0003g0217 a0011c0026t0004g0280 a0012c0024t0035g0074 a0013c0029t0002g0246 a0014c0017t0003g0192	227	322	0.7050	-1208	c.126 others(19): Show c.1265-2448_1265-1241del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar

Search by Variant

Search

Search Results