Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TUBGCP2_chr10_133273635_133313872	133291639	GTGTCCCC others(477): Show GTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC CCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATG TCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCT CCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGT GTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGT CCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0033 a0001c0004t0002g0033	1	276	0.0036	-484	c.121 others(17): Show c.1214+376_1214+859del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZCCHC2_chr18_62518025_62583579	62580649	TGCTGTGG others(477): Show TGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGT GGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGG CCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGT GGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCC CTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCG AGACGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGATGG TGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGATGGTGTCAC AGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCT GTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAA GGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0016 a0002c0002t0009g0016	1	270	0.0037	-484	c.40 others(11): Show c.4071_*4554del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		2071		chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393649	GGGGGCAG others(477): Show GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	343	0.0029	-484	c.181 others(21): Show c.1811-13830_1811-13347del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADSS1_chr14_104719229_104752310	104720443	TCTCGTGT others(476): Show TCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACATCTGCGTAGTCTCGTGTGGATGCTGCTGTGAACGTCTGCG TAGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATG CTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGT GGATGCTGCTGTGGACGTCTGCGTCGTCTCGTGTGGATGCTGCTGTGGAC GTCTGCGTCGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCTCGT GTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTG GACGTCTGCGTCGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCC TCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	382	0.0026	-483	c.-38 others(11): Show c.-3827_-3345del	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3785		chr14	TogoVar
C11orf21_chr11_2290628_2306918	2291282	ATGCCACC others(476): Show ATGCCACCCGCAGCACCCCCAAAAACAACTCCCCGCTTTAGTATATTCAG AGGCGTGCCACCCGCAGCACCCCCAAAAACAACTCCCTGCTTCAGTATAT TCACAGAGGCGTGCCTCCCGCAGCACCCCCAAAAACAACTCCCTGCTTTA GTATATTCAGAGGCGTGCCTCCCTCAGCACCCCCAAAAACAACTCCCCGC TTTAGTATATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACT CCCCGCTTCAGTATATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAA ACAACTCCCCGCTTTATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAA AACAACTCCCCACTTTATTCGCAGAGGTGTGCCTCCCGCAGCACCCCCAA AAACAACTCCCCGCTTTATTCACAGAGGCGTGCCACCCGCAGCACCCCCA AAAACAACTCCCCGCTTTAGTATATTCAGAGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01993.hp1 HG02257.hp1 others(6): Show HG01070.hp1 HG01993.hp1 HG02257.hp1 HG02258.hp2 HG02886.hp2 HG03130.hp2 HG03540.hp1 HG03540.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0002 a0001c0001t0008 a0001c0003t0004 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0003t0004 a0003c0004t0008 a0003c0004t0017	a0001c0001t0002g0002 a0001c0001t0008g0075 a0001c0003t0004g0004 others(2): Show a0001c0001t0002g0002 a0001c0001t0008g0075 a0001c0003t0004g0004 a0003c0004t0008g0011 a0003c0004t0017g0044	9	385	0.0234	-483	c.61 others(11): Show c.6185_*6667del	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		4345		chr11	TogoVar
C2CD4C_chr19_400445_414147	404349	GGGGGGGA others(476): Show GGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGG GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGCACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGG GTCTGAGGGGGAGACGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGG GTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTG TGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTC CTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTG GAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0073 a0001c0001t0076g0073	1	283	0.0035	-483	c.22 others(11): Show c.2264_*2746del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1095		chr19	TogoVar
FYB1_chr5_39100252_39224563	39213678	GGGGGTGA others(476): Show GGGGGTGAGGTGTTTAGGTAGATGACTATATTAGGGCTTTTTTAGCCCAA CCCTGGCTCCAAACAGCTGCCCCTTAGAGTTGGTTACATGAACCATCTAA CTGGTAGTTTAGGGGCCCAGGACACCATTCTGGTTCATTCATTGTCTGCC TGAGATGGTGATTATCGTTCATTTGGCTGCAGCCTCAAACTTATTACCAG GGGTGGTTGAAGAGGGGCATAAACAGATACTACGGGAGAAAGAAGTTATA ATTTGGGAAGTCCCATGGCAAAAATCAGATTGATAACAATGCATTTATAT ATAACAACTTCGTCTGAATGAAAAAGTGAAAAAAGTGTTAACATCTTTCG TTAGTTCAAAGAACAACAAAAAATGAAACACACCAAAACCCTTTCCTGTG TTATGCTTTTCTACATACTAAATGGTTTTCAAAAGAAAGTACCACAGAGA GAGTCATCTATTATTTCTAGACAGAATTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	324	0.0031	-483	c.-28 others(17): Show c.-28+5282_-28+5764del	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	1/18			chr5	TogoVar
INF2_chr14_104684618_104727535	104720443	TCTCGTGT others(476): Show TCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACATCTGCGTAGTCTCGTGTGGATGCTGCTGTGAACGTCTGCG TAGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATG CTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGT GGATGCTGCTGTGGACGTCTGCGTCGTCTCGTGTGGATGCTGCTGTGGAC GTCTGCGTCGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCTCGT GTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTG GACGTCTGCGTCGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCC TCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0203 a0001c0001t0063g0203	1	365	0.0027	-483	c.17 others(11): Show c.1709_*2191del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23	5163	INFO_REALIGN_3_PRIME	chr14	TogoVar
MIER2_chr19_300573_349796	312395	AGCCACCT others(476): Show AGCCACCTACACCTCTATCCAGGGAGTGACATCAGGGGCCGTCCACACCA CCCTCCTGGGCGATGTCAGGGCCACCTACACCTCTATCCAGGGAGTGACA TCAGGGGCCGTCCACACCACCCTCCTGGGCGATGTCAGGGCCACCTACAC CTCTATCCAGGGAGTGACATCAGGGGCCGTCCACACCACCCTCCTGGGCG ATGTCAGAGCCACCTACACCTCTATCCAGGGACTGGCATCAGGGGCCGTC CACACCACCCTCCTGGGCGATGTCAGGGCCACCTACACCTCTATCCAGGG AGTGACATCAGGGGCCGTCCACACCACCCTCCTGGGCGATGTCAGGGCCA CCTACACCTCTATCCAGGGAGTGACATCAGGGGCCGTCCACACCACCCTC CTGGGCGATGTCAGGGCCACCTACACCTCTATCCAGGGAGTGACATCAGG GGCCGTCCACACCACCCTCCTGGGCAATGTCAGG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	375	0.0027	-483	c.808 others(15): Show c.808-606_808-124del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	8/13			chr19	TogoVar
MUL1_chr1_20494448_20513151	20511293	GAGGGGGG others(476): Show GAGGGGGGAAGAAACAGCAAAGGTACAAAGCTACCAAGAGTTGGCCCAGT ATAGCTAGAGCCCAGGATGTGCGACAGAGAGCAAGGAGCAAGTAATTGAA AAGGAGGGTTGAGGCCAGATCCTGTAGGTCCCTAAATGCCAAACCAAAAC TTTAAACTTCATCATTTTGGGGATGGTATCCATTCCAGTAAAGCTTTTTG AGGATCAGCAAGGGTGCAACCTAACCTGTTTTTTAAAAAATATATATAAT CAAAATTCTTGTATCCTTAGGTTACAGCAAGGAAGAGAACAAAAACGGGT CCTTAAAATAAAACAGGCAGAGTGCTGCACTGCAATAAGTTAGGGGTCCT TGCTTACAGGTTCTGACTATTTTAGGCCTCCTTGTTTTATTCTCTGGGCC CTTTTATGAGTTCCCTGGGAGCTCATTAAAGCCATCACTCTTAAATGACA CAGTTTGGTTTTAAATAACCCTTCCATTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	-483	c.-37 others(11): Show c.-3752_-3270del	MUL1	ENSG00000090432.7	transcript	ENST00000264198.5	protein_coding		3143		chr1	TogoVar
NEU4_chr2_241804193_241822413	241806537	CCCCCCTC others(476): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	289	0.0035	-483	c.-27 others(11): Show c.-2740_-2258del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2655		chr2	TogoVar
RPTOR_chr17_80539838_80971368	80743824	TGGCTACT others(476): Show TGGCTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACA GCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAG CAGAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTA CTAGCACTGTCCTGGTTATGAGCACAGCCCTGGTTACTAGCACAGCCCTG GTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT CCTGGTTACGAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCA CAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACT AGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGC TACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCC TGGTTACTAGCACTGTCCTGGCTACTAGCACAGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0061 a0001c0039t0061	a0001c0039t0061g0177 a0001c0039t0061g0177	1	194	0.0052	-483	c.655 others(18): Show c.655-10185_655-9703del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1137538	TTCGGGCT others(476): Show TTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGG GAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCAGTG GGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCGGGCTGGGGTGC AGTGGGGGGAGGCTCAGGCTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGG GGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGG TGGGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCAGGCTGGGGG GAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGTTCGGGCTGGGGTGCGGTG GGGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGC GGTGGGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCGGGCTGGG GTGCAGTGGGGGGAGGCTCAGGCTGGGGGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp2 HG01891.hp1 others(10): Show HG01256.hp1 HG01257.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG03195.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0002 a0001c0007 a0001c0010 others(6): Show a0001c0002 a0001c0007 a0001c0010 a0001c0011 a0001c0020 a0001c0024 a0001c0035 a0004c0012 a0008c0031	a0001c0002t0001 a0001c0007t0001 a0001c0010t0001 others(6): Show a0001c0002t0001 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0001c0020t0001 a0001c0024t0001 a0001c0035t0001 a0004c0012t0002 a0008c0031t0001	a0001c0002t0001g0048 a0001c0002t0001g0062 a0001c0007t0001g0176 others(10): Show a0001c0002t0001g0048 a0001c0002t0001g0062 a0001c0007t0001g0176 a0001c0010t0001g0002 a0001c0010t0001g0022 a0001c0010t0001g0035 a0001c0011t0001g0079 a0001c0011t0001g0104 a0001c0020t0001g0027 a0001c0024t0001g0178 a0001c0035t0001g0153 a0004c0012t0002g0005 a0008c0031t0001g0196	13	195	0.0667	-483	c.279 others(17): Show c.279+9288_279+9770del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
CLTC_chr17_59614895_59701956	59641075	TGCCACTG others(475): Show TGCCACTGCATTCCAGCCTGGTGACAGAGCGAGACTCGGTTTCAAAAAAA AAAACAAAAAACTTGCAACTTCAGAATTATGTTCATGTTTGCTGGTGTTT TAACTCAAACTGGGACATAAATCCTAGGGAAGTAACCCATATCACTGTTG TTCTAATAACTGCATTCGTAGTAGAATAACACTACATTCACTAGTAGAGG CTGAGGGAGAGAGGAAAAGAAGGAATTACAGGTTACAGGCTACTTTTCTG TTCTTGTCTAGACTGAGGCTGACTGACTTGTCTAGACTGAGGCTGAGGCA GGTGGACCATGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAA ACTCCATTTCTACTAAAATACAAAAAATTAGCCGGGCATGTTGGCGCACT CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC TAGGAGGCAGAGGTTGTAGTGAGCTGAGATCGA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	258	0.0078	-482	c.43- others(15): Show c.43-3193_43-2712del	CLTC	ENSG00000141367.13	transcript	ENST00000269122.8	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
EXOC2_chr6_480154_698139	601450	CCACACAC others(475): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19086.hp2 HG03704.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0131 a0001c0001t0003g0259 a0001c0001t0001g0131 a0001c0001t0003g0259	2	120	0.0167	-482	c.743 others(17): Show c.743-2707_743-2226del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FNDC10_chr1_1593012_1605135	1595578	AACAGACA others(475): Show AACAGACAGACACAGAGAGAGCAGAACGGGGAGAGACAGAGAGACAGAGA GAAACAGAGACAGAGACAGAGAGAGGCAGACAGAGAGACAGACAGACAGA CAGAGAGAGCAGAACAGGGAGAGACAGAGAGACACAGAGACAGAGAGGCA AACAGAGACAGAGAGACAGACAGAGAGAGCAGAATGGGGAGAGACACAGA GACAGAGACAGAGACAGAGAGAGGCAGACAGAGACAGAGAGAGAGACAGA CAGACACAGAGCAGAACAGGGAGAGACAGAGAGAGAGAGACAGAGAGAGG CAGACAGAGACAGAGAGAGAGACAGACACAGAGCAGAACAGGGAGAGACA GAGAGAGAGAGAGACAGAGAGAGGCAGACAGAGAGAGAGAGAGAGACAGA CACAGAGAGAGCAGAACAGGGAGAAACAGAGACAGAGAGCGAGAGAGACA GACACAGAGAGAGGCAGACAGAGACAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	391	0.0026	-482	c.32 others(11): Show c.3275_*3756del	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		2433		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241805563	CCCCTCAG others(475): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	292	0.0034	-482	c.13 others(11): Show c.1398_*1879del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1277		chr2	TogoVar
H2BC9_chr6_26246614_26257075	26249694	TGTTTTGT others(475): Show TGTTTTGTTGTTTTGAGACAGGGTTTCGCTGTCACCCATGGAGGAGTGGA GTGGCGCGATCTCGGCTTACTTCAACGGCTGCCTCCCAGGTCCAAGCGAT TCTCCTTCCTCAGCCCCCGATATAGCTGGGACTGCAGGAGGGCGCCACCA CACCCGTATTTTTGTTTTTTGGTTTTGTACTTTTAGTGAAGACGGGTTTT CACTATGTTAGGCAGACTAGTCTCGAATTCCTGACCTTTGTATAAGTAAC CCGCCCTCCTCGGGCTCCCACAGTACTGGGATTACAAGGCGTGAGCCGCC ACTATCGGCCATTTTGAAGACAATGGCCAAGACACAAAAGCCTAGTTTAG AAGAGCCACCGGCCCTGCCCCCATCCCCTAACCCTCCACCCTCCTTGTTT TAGGAGACATTACTCCCTAGTGCTACGGCGCTTTCAACTGAAATTGTTGG TGGCTCTGAAAAGAGCCTTTGGTTTAAGTTGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	376	0.0027	-482	c.-19 others(11): Show c.-1956_-1475del	H2BC9	ENSG00000275713.3	transcript	ENST00000619466.3	protein_coding		1919		chr6	TogoVar
H3C7_chr6_26245142_26255635	26249694	TGTTTTGT others(475): Show TGTTTTGTTGTTTTGAGACAGGGTTTCGCTGTCACCCATGGAGGAGTGGA GTGGCGCGATCTCGGCTTACTTCAACGGCTGCCTCCCAGGTCCAAGCGAT TCTCCTTCCTCAGCCCCCGATATAGCTGGGACTGCAGGAGGGCGCCACCA CACCCGTATTTTTGTTTTTTGGTTTTGTACTTTTAGTGAAGACGGGTTTT CACTATGTTAGGCAGACTAGTCTCGAATTCCTGACCTTTGTATAAGTAAC CCGCCCTCCTCGGGCTCCCACAGTACTGGGATTACAAGGCGTGAGCCGCC ACTATCGGCCATTTTGAAGACAATGGCCAAGACACAAAAGCCTAGTTTAG AAGAGCCACCGGCCCTGCCCCCATCCCCTAACCCTCCACCCTCCTTGTTT TAGGAGACATTACTCCCTAGTGCTACGGCGCTTTCAACTGAAATTGTTGG TGGCTCTGAAAAGAGCCTTTGGTTTAAGTTGGC	T T	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	372	0.0027	-482	c.19 others(8): Show c.19_*500del	H3C7	ENSG00000277775.2	transcript	ENST00000618052.2	protein_coding	1/1	447		chr6	TogoVar
H4C7_chr6_26241611_26251996	26249694	TGTTTTGT others(475): Show TGTTTTGTTGTTTTGAGACAGGGTTTCGCTGTCACCCATGGAGGAGTGGA GTGGCGCGATCTCGGCTTACTTCAACGGCTGCCTCCCAGGTCCAAGCGAT TCTCCTTCCTCAGCCCCCGATATAGCTGGGACTGCAGGAGGGCGCCACCA CACCCGTATTTTTGTTTTTTGGTTTTGTACTTTTAGTGAAGACGGGTTTT CACTATGTTAGGCAGACTAGTCTCGAATTCCTGACCTTTGTATAAGTAAC CCGCCCTCCTCGGGCTCCCACAGTACTGGGATTACAAGGCGTGAGCCGCC ACTATCGGCCATTTTGAAGACAATGGCCAAGACACAAAAGCCTAGTTTAG AAGAGCCACCGGCCCTGCCCCCATCCCCTAACCCTCCACCCTCCTTGTTT TAGGAGACATTACTCCCTAGTGCTACGGCGCTTTCAACTGAAATTGTTGG TGGCTCTGAAAAGAGCCTTTGGTTTAAGTTGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	364	0.0027	-482	c.-31 others(11): Show c.-3199_-2718del	H4C7	ENSG00000275663.2	transcript	ENST00000611444.2	protein_coding		2699		chr6	TogoVar
HDAC8_chrX_72324516_72577843	72537463	TAGTAAAT others(475): Show TAGTAAATACTGCTATTATTTATTATTAAGCCTTGAATGGCAAGCAGAAA TCTGAAGTTAATTGTTGTACCTTCTTTATGGATATATATCCCTCTTATAG TAAATCCACAGATAGGGATTCCTGGTCAAGGCATTAACAAGAGCTTAGTG ACCTTCAAGATGCCTCCCAGAGGAGGCTGTCATAATCTCTTAAAGAAAAT TTGTTAGTTGTCTGGAATAAAGTCCATAGTTACCAGTTGACTTGATCCAC TTTATATGCTTTATTATTACTGTTATATTAAAGTACATCAGGCAAGACTA GTGGTTTAAGCTCCTCTCAATTTATGCCTTACCTCTGCCCCTTATGCCTT ACCTTTGTCCTTAGTTTCCAGAAGAGTTTAAAGAGCCATTTTTACTAAAT TCCAAAGACAGTACATGAAAGGCATTGAAACTAATGATTATCAGAAGAAA AATCCACTGAATTCTAGCAAAGACCAGTGAGGA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	206	0.0049	-482	c.437 others(19): Show c.437+29944_437+30425del	HDAC8	ENSG00000147099.21	transcript	ENST00000373573.9	protein_coding	4/10			chrX	TogoVar
INPP5A_chr10_132532787_132788480	132771726	AGACACTC others(475): Show AGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTG GGACGGACACTCAGCACTGACACGGAGGCCCAGGCAGCCGCCCCGTGAAG AGTGGGGCACTCAGCACTGACACGGAGGCCACAGCAGCCACCCCGCGAAG AGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGAT GAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACC CCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGC CACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACAG CAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCC ACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGA GGCCACAGCAGCCACCCGATGAAGAGTGGGACG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00639.hp1 others(26): Show HG00323.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01192.hp2 HG01515.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03927.hp1 HG04204.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0004t0001 a0002c0002t0006	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0093 a0001c0001t0002g0148 a0001c0001t0002g0162 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0004t0001g0011 a0001c0004t0001g0012 a0002c0002t0006g0135	29	173	0.1676	-482	c.978 others(17): Show c.978-5906_978-5425del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
NCOR1_chr17_16024157_16220534	16191830	CAGCCAGG others(475): Show CAGCCAGGCGTCGTGACTCACACCTGTATTCCCATCTACTTGGGAGGCTG AGGCAAGAGGATCCCTTGAGCCCAATAGTTCTAGGCTACAGCTCTGGGCT ATGCCAATCAGATGTCTACACTAAGTTCAGCATTTATATGATGACGTCCC AGAAGCAGGAGGACTACCAGGTTGCCTAAGGAGGGATGAACCCACCCAGG TTACAAAAAAAAAACAAAAAAAATGGAGCAGGTCACAACTCCTGTGCTGA CCAGTAGTGGGAATGCACCTATGAAAACCACTGCACTCCAGCCTAGGCAA CATAGCAAGGCACCATCTTCGTTTAAAAAAAAAAAAAAAACCCATACCCA AATTGCTGAAAATCAATGATAAAGAGAAAACTCTTAAAAAGTAACCAGAG GAGACCAGACACAGTGGCTCACACCTGAAAGCCCCACACTTTGGGACGCC GAGGCAGGCAGATCACTTGAGGCCAGGAGTTCG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp2 HG01169.hp2 HG01070.hp2 HG01123.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0010 a0001c0001t0002g0226 a0001c0001t0002g0227	3	280	0.0107	-482	c.108 others(17): Show c.108+2150_108+2631del	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	2/45			chr17	TogoVar
NEU4_chr2_241804193_241822413	241805563	CCCCTCAG others(475): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	297	0.0034	-482	c.-37 others(11): Show c.-3714_-3233del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3629		chr2	TogoVar
RFX7_chr15_56082280_56248879	56110509	TGCCCGGC others(475): Show TGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCC ACCCGGCCAGCCACCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTG GGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCTGTCCGG GAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGAGCCTCTGCCC TGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0156 a0001c0001t0032g0156	1	358	0.0028	-482	c.402 others(17): Show c.402-7321_402-6840del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX7_chr15_56082280_56248879	56110530	CGGGAGGG others(475): Show CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTC TGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCTGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGTCAG CCCCCCACCCGGCCAGCCACCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CTGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCC CGTCCGGGAGGTGAGGGGAGCCTCTGCCCTGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCT	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19087.hp2 NA18972.hp2 NA19087.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0019 a0002c0006t0019	a0002c0006t0019g0139 a0002c0006t0019g0140 a0002c0006t0019g0139 a0002c0006t0019g0140	2	358	0.0056	-482	c.402 others(17): Show c.402-7342_402-6861del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RPH3AL_chr17_207389_357807	255725	GCGTCTGT others(475): Show GCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGAC TACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCC GTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCC TATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGCGTCTGTCCTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02074.hp1 NA18959.hp2 HG00280.hp2 HG02074.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0001 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0065 a0001c0001t0011g0007 a0001c0001t0012g0053 a0001c0001t0001g0065 a0001c0001t0011g0007 a0001c0001t0012g0053	3	131	0.0229	-482	c.439 others(17): Show c.439-8922_439-8441del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668402	TTCACCCT others(475): Show TTCACCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCC TCTCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCAC CCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCT ACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTC CCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCC TCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCC TCACCCTCCATCTCCCCTCACCCTCCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	256	0.0039	-482	c.249 others(19): Show c.2495+1700_2496-1533del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SUPT3H_chr6_44821726_45382934	44847654	ATTTTTGT others(475): Show ATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCTATGTTGGCCAGGCTGG TCTCGAACTCCTGACCTCGGGTGATCCACCTGCCTTGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCACACCCAGCCTATGGGAAGATTTTTT AAATGCTCTGTCTTTTCTTCTCCTGCTCTTGTCACTGGTGAGATGTCAAC CTAAGCTACTATAGACTATTGTTGGAGATGTATGGATTCCACTAATTTTC TTTACCATTCATTACAGAAATATTTTCTTCTAGTGTTGACAGTTATCTCT GTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTG TTATCCAGGCTGGAGTGCAGTGGCATGATCTTGACTCACTGCAACCTCTG TCTTGTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAAT TACAGGTGTGTGCCACCACACTCAGCTAATTTT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	262	0.0038	-482	c.913 others(19): Show c.913-18279_913-17798del	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
TESC_chr12_117033923_117104416	117103117	AAGGTGAT others(475): Show AAGGTGATTCATACATGTAAGGTGATTGTGAGGGTTAAATGCAGATTCAT ATATGTAAGGTGATTCATACATGTAAGGTGATTGTGAAGGTTAAATACAG ATTCATATATGTAAGGTGATTCATACATGTAAGGTGATTGTGAGGGTTAA ATGCAGATTCATATATGTAAGGTGATTCATACATGTAAGGTGATTGTGAG GGTTAAATGCAGATTCATATATGTAAGGTGATTCATACATGTAAGGTGAT TGTGAAGGTTAAATGCAGATTCATATATGTCAGGTGATTCATACATGTAA GGTGATTGTGAGGGTTAAATGCAGATTCATATATGTAAGGTGATTCACAC ATGTAAGGTGATTGTGAAGGTTAAATGCAGATTCATATATGTAAGGTGAT CATACATGTAAGGTGACTGTGAAGGTTAAATGCAGATTCATATATGTAAC ATTGTGAGGGTTAAATGCAGATTCATATATGTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG03486.hp2 others(1): Show HG01243.hp1 HG01891.hp2 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0069 a0001c0001t0001g0003 a0001c0001t0001g0069	4	310	0.0129	-482	c.-43 others(11): Show c.-4317_-3836del	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding		3702		chr12	TogoVar
TESC_chr12_117033923_117104416	117103204	AGGTTAAA others(475): Show AGGTTAAATACAGATTCATATATGTAAGGTGATTCATACATGTAAGGTGA TTGTGAGGGTTAAATGCAGATTCATATATGTAAGGTGATTCATACATGTA AGGTGATTGTGAGGGTTAAATGCAGATTCATATATGTAAGGTGATTCATA CATGTAAGGTGATTGTGAAGGTTAAATGCAGATTCATATATGTCAGGTGA TTCATACATGTAAGGTGATTGTGAGGGTTAAATGCAGATTCATATATGTA AGGTGATTCACACATGTAAGGTGATTGTGAAGGTTAAATGCAGATTCATA TATGTAAGGTGATCATACATGTAAGGTGACTGTGAAGGTTAAATGCAGAT TCATATATGTAACATTGTGAGGGTTAAATGCAGATTCATATATGTCAGGT GATTCATACATGTAAGGTGATTGTGAGGGTTAAATGCAGATTCATATATG TAAGGTGATTCATACATGTAAGGTGATTGTGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	296	0.0034	-482	c.-44 others(11): Show c.-4404_-3923del	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding		3789		chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747270	CTGGGGTA others(475): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTA GAAGGCGGGAGGCTGGGGTAAAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03486.hp2 HG03516.hp1 others(1): Show HG01109.hp2 HG03486.hp2 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0109 a0001c0001t0004 a0001c0001t0026 a0001c0001t0109	a0001c0001t0004g0148 a0001c0001t0004g0180 a0001c0001t0026g0015 others(1): Show a0001c0001t0004g0148 a0001c0001t0004g0180 a0001c0001t0026g0015 a0001c0001t0109g0014	4	295	0.0136	-482	c.189 others(16): Show c.189-1055_189-574del	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TPPP_chr5_654862_698352	667881	CAGAGAGG others(475): Show CAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACA GAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTGCGGACAAGCACACAGA GAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGAGA GGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACTGGAGAG GGGTCCGCGTGGGCCCCATCAGGGAAGTACCGACAAGCACACGGAGAGGG GTCCGCGTGGGCCCCGTCAGGGAAGTACCGACAAGCACACGGAGAGGGGT CCGCGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGAGAGGGGGCC GTGTGGGCGCCGTCAGGGAAGTGCGGACAAGCACACGGAGAGGGGTCCGC GTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTGT GGGCGCCGTCAGGGAAGTGCGGACAAGCACACT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19030.hp2 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0084 a0001c0001t0010 a0001c0001t0084	a0001c0001t0010g0235 a0001c0001t0084g0047 a0001c0001t0010g0235 a0001c0001t0084g0047	2	367	0.0054	-482	c.312 others(17): Show c.312-2240_312-1759del	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(475): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19065.hp1 NA19009.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0327 a0001c0001t0003g0251 a0001c0001t0001g0327 a0001c0001t0003g0251	2	263	0.0076	-482	c.181 others(21): Show c.1811-12991_1811-12510del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(474): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG01243.hp1 others(14): Show HG00609.hp1 HG00621.hp2 HG01243.hp1 HG01261.hp1 HG02145.hp1 HG02683.hp2 HG02698.hp1 HG03834.hp1 NA18963.hp1 NA18982.hp1 NA18999.hp2 NA19007.hp1 NA19011.hp2 NA19063.hp2 NA19065.hp2 NA19081.hp1 NA20905.hp2	a0002 a0003 a0014 a0002 a0003 a0014	a0002c0001 a0002c0020 a0002c0035 others(3): Show a0002c0001 a0002c0020 a0002c0035 a0002c0054 a0003c0006 a0014c0034	a0002c0001t0002 a0002c0001t0020 a0002c0020t0002 others(4): Show a0002c0001t0002 a0002c0001t0020 a0002c0020t0002 a0002c0035t0002 a0002c0054t0002 a0003c0006t0002 a0014c0034t0008	a0002c0001t0002g0040 a0002c0001t0002g0157 a0002c0001t0002g0159 others(14): Show a0002c0001t0002g0040 a0002c0001t0002g0157 a0002c0001t0002g0159 a0002c0001t0002g0175 a0002c0001t0002g0179 a0002c0001t0002g0203 a0002c0001t0002g0204 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0236 a0002c0001t0020g0045 a0002c0020t0002g0193 a0002c0035t0002g0183 a0002c0054t0002g0245 a0003c0006t0002g0141 a0003c0006t0002g0143 a0014c0034t0008g0237	17	147	0.1156	-481	c.226 others(19): Show c.2268-3886_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
DHRS12_chr13_51762993_51809163	51775617	CCTACAGT others(474): Show CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTC TCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATT CTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTAT TCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTA CAGTATTCTCCTACATGTACTCTACAGTATTCTCCTACATGTATTCTACA GTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACA TGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACATGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	414	0.0024	-481	c.363 others(16): Show c.363+962_363+1442del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
F13A1_chr6_6139084_6325662	6261580	GCCCTCCA others(474): Show GCCCTCCAGGTGATTCTGATGTGTTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCC TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAG CGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTC CAGGTGATTCTGATGTGCTCCAAGCGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	188	0.0053	-481	c.571 others(17): Show c.571+4497_571+4977del	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805559	CTCCCCCC others(474): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA20129.hp2 HG03486.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0030 a0002c0002t0002g0107 a0001c0001t0002g0030 a0002c0002t0002g0107	2	294	0.0068	-481	c.13 others(11): Show c.1394_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1273		chr2	TogoVar
MVB12B_chr9_126321829_126512040	126484523	CCTTCTTC others(474): Show CCTTCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCA TGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCA CTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGG GTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCA TGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCAC TGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGG TACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATG AGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACT GTGCTTCATGAGGTCAGGGTACCGTCCACTGTGCTTCATGAGGTCAGGGT ACCTTCCACTGTGCTTCATGAGGTCAGGGTAC	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	85	0.0118	-481	c.873 others(15): Show c.873+496_873+976del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2085691	GCGTGGCC others(474): Show GCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGAT CTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCG TGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGT CGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCC CACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGC CCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTC TGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCCCACTGTTGTGATCTCT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0078 a0002c0006t0001g0078	1	342	0.0029	-481	c.164 others(17): Show c.1644+302_1644+782del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
NEU4_chr2_241804193_241822413	241805559	CTCCCCCC others(474): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03130.hp2 NA18522.hp2 others(3): Show HG02055.hp1 HG03130.hp2 NA18522.hp2 NA18612.hp1 NA18995.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0016 a0004c0017	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0016t0001 a0004c0017t0003	a0001c0001t0001g0007 a0001c0001t0003g0092 a0001c0002t0001g0013 others(3): Show a0001c0001t0001g0007 a0001c0001t0003g0092 a0001c0002t0001g0013 a0001c0004t0001g0107 a0001c0016t0001g0070 a0004c0017t0003g0089	6	296	0.0203	-481	c.-37 others(11): Show c.-3718_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3633		chr2	TogoVar
P2RY8_chrX_1457581_1542185	1490171	GGGGAATG others(474): Show GGGGAATGAATGAATGATACCCCAGATTCACTTCTGCAAATGTAGAGAGA ATGAATGAATGATACCCAGATATTCCCCACAAATGTGGGGGGAATGAATG AATGACATCCAGGGATTCTCCACAAATGTGGAGGGAATGAATGAATGATA CCCCAGATTCACTTCTGCAAATGTAGAGAGAATGAATGAATGATACCCAG ATATTCCCTGCAAATGTGGAGGGAATGAATGAATGATACCCCAGATTCAG TTCTGCAAATGTAGAGAGAATGAATGAATGATACCCAGATATTCCCTGCA AATGTGGGGGGAATGAATGAATGACATCCAGGGATTCTCCACAAATGTGG AGGGAATGAATGAATGATACCCCGGATTCACTTCTGCAAATGTAGAGAGA ATGAATGAATGATACCCAGATATTCCCTGCAAATGTGGGGGGAATGAATG AATGACATCCAGGGATTCTCCACAAATGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0109 a0002c0002t0021g0109	1	111	0.0090	-481	c.-24 others(19): Show c.-24-24070_-24-23590del	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PPP2R2D_chr10_131896008_131964834	131958507	CCTGTGGA others(474): Show CCTGTGGAGATGAAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGA AGGGGTATGCTGATCCCCTGTCCCCCTGTGGGGATGAAGGTGTGTGCTGA TCTCTTGTCCCCCTGTGGAGATGGAGGTGTGTGCTGATCCCCCATCCCCC TGTGGAGATGAAGATGTGTGCTGATCCCCCGTCCTCCTGTGGAGATGAAG GTGTGTGCTGCTTCCTCGTGCCCCTGTGGAGATGGAGGTGTGTGCTGGTC CCCCGTCCCCCTGTGGAGATGGAGGTGTGTGCTGATCCCCCGTCCCCCTG TGGAGATGGAGGCGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGC GTGTGCTGATCCGCCATCCCACTGTGGAGATGAAGGCGTGTGCTGATCCC CCATCCCCCTGTGGAGATAAAGGTGTGTGCTGATCCCCCATCCCCCTGTG GAGATGAAGGCGTGTGCTGATCCGCCATCCCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0097 a0001c0001t0022g0097	1	391	0.0026	-481	c.25 others(11): Show c.2560_*3040del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	2560	INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2121950	ACGGCGGT others(474): Show ACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAG GGTCACGGTGGTGGTTAGGGTCGTGGTAGTTAGGTTCATGGTGGTGGTTA GGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCGTGGTGGTTAGG GTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAG GGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTGG TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT GTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGT CACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGT GGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCA CGGTGGTGGTTAGGGTCACGGTGGTAGGGTCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp2 NA18968.hp1 others(2): Show HG00621.hp2 HG02056.hp2 NA18968.hp1 NA18997.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0004 a0001c0004t0002 a0001c0002t0001 a0001c0002t0004 a0001c0004t0002	a0001c0002t0001g0143 a0001c0002t0001g0281 a0001c0002t0004g0144 others(2): Show a0001c0002t0001g0143 a0001c0002t0001g0281 a0001c0002t0004g0144 a0001c0004t0002g0036 a0001c0004t0002g0039	5	269	0.0186	-481	c.335 others(19): Show c.335-13311_335-12831del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
RFX7_chr15_56082280_56248879	56110542	GGGGGGGG others(474): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCTGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGG CCAGCCACCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGT GAGGGGAGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC GCCCGGCCAGCCACCCCGTCTGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0248 a0001c0003t0001g0248	1	348	0.0029	-481	c.402 others(17): Show c.402-7353_402-6873del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
SARDH_chr9_133658560_133743352	133718380	GTTTATTG others(474): Show GTTTATTGTATGTCTCTCCACCAAAATATAGGCACCCAGAGTCAGGGACT TTTATCTTAGTTTCCCTCTTTCTCCAGAAATTAAAGCAGTTTTTAGCCCA AAGTAGCCACTCAGTCGTTCCATGTGTGGACTAAATGCATATACACATAG AACAGGGCTGCAGGGCTGCCCTAACCCCAGAAGCTGCCCGGGAAACAGCC CAGGCCAGGGGAAATGCCGCTGCAGCAGCTGGTTGGGAGGGCAGTGTCAT TTGCTGAAGGACGTAGGACTTGTGTGCTCTCATGCCCTTCTGAGGTCATC ACTCCACACTGCGCAGACCTTCTCTGTGGATGTTTTGAGGCAAAGCCCTC CAGCTGCCCTGGGTCTGTATTTGACTGCCTGCCAGGACCGTCAGGGTAAG AGCAAGATGGCTTTGAGCTTGGTGGGGTCAGGGGACCGGCCACTTCTCAG GTGTGCCTCTGAGGAGCTTCAGGAGGATGGAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19000.hp1 NA19077.hp2 HG00597.hp2 NA19000.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0001g0192 a0001c0001t0002g0249 a0001c0001t0001g0134 a0001c0001t0001g0192 a0001c0001t0002g0249	3	260	0.0115	-481	c.102 others(16): Show c.1020+77_1020+557del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	7/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1148485	CCACCCCA others(474): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCATCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0155 a0001c0006t0001g0155	1	121	0.0083	-481	c.167 others(15): Show c.167+403_167+883del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SDHA_chr5_213320_262082	261350	GCCTCCCG others(474): Show GCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT CCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGC CCCCCGACAGAGCATTACCGTGTGAGCTCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	264	0.0038	-481	c.49 others(11): Show c.4931_*5411del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4269		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(474): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0094 a0001c0001t0063g0094	1	40	0.0250	-481	c.573 others(19): Show c.573+69221_573+69701del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
SNTG2_chr2_945849_1372613	1012588	AGGGCAGA others(474): Show AGGGCAGAGAGAAGGGTGGTCTGGAAAGGGATTTATAAGGACAGAGAGAA GGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAG AAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAG GACAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGG GTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAA GGATTTATATGGGCAGAGAGAAGAGTGGTCTGTAGAGGGATTTATAAGGG CAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGT GGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGG ATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCA GAGAGAAGGGTGGTCTGGAGAGGGATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	160	0.0063	-481	c.72+ others(17): Show c.72+61543_72+62023del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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