Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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)

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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
CFAP52_chr17_9571642_9648447	9625306	GGCAGTGT others(153): Show GGCAGTGTTTATAACCAGAATTTACATCTTATTCTTGTGGTTCTCTTGCC ACTAGGATATTCCCCCTTTAAATTCCAGCTGATTTTCTAGCCCTCAACTC TGATCTCTAGCATTGTTAGCTAGGGATACATGTATAATTTAGCTACCCAA CAGAGATTTGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG02897.hp1 others(2): Show HG02615.hp2 HG02895.hp2 HG02897.hp1 HG03471.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0004 a0001c0002t0001 a0001c0004t0004	a0001c0002t0001g0222 a0001c0004t0004g0001 a0001c0004t0004g0036 others(1): Show a0001c0002t0001g0222 a0001c0004t0004g0001 a0001c0004t0004g0036 a0001c0004t0004g0199	5	316	0.0158	-160	c.102 others(19): Show c.1026-3245_1026-3086del	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHRM4_chr11_46378789_46396776	46386979	GCTGTGGA others(153): Show GCTGTGGAGAGTGGCCCTGCCAGGGGCAGTAGCCACAGCAAAGGCCTGGA GGCAGCGCAAGGCCTGGACAGAGGCCAGTGCTGGGGGAGCTCAGGGAAGC AAGAGGAGGAGGAGAGTGGTCCCAGAGGCCCACGAGCATGTGGGCTCTGG AGGGAGGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01123.hp2 HG01169.hp2 others(3): Show HG00099.hp2 HG01123.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	6	308	0.0195	-160	c.-29 others(15): Show c.-29-553_-29-394del	CHRM4	ENSG00000180720.8	transcript	ENST00000682254.1	protein_coding	1/1			chr11	TogoVar
CNST_chr1_246561456_246673595	246619852	GGTGCATA others(153): Show GGTGCATACACACGATGGGCTCTGGGCACACTCTACAGGGAGGACGGCTT CAGTCGTGCATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGC TTCAGTCGTGCATACACACGATGGGCTCTGGGAACACTCTACAGGGAGGA CGGCTTCAGTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG02145.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0170 a0001c0001t0003g0181 a0001c0001t0001g0170 a0001c0001t0003g0181	2	320	0.0063	-160	c.380 others(17): Show c.380-1473_380-1314del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246620419	TCTACAGG others(153): Show TCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGA ACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCTCT GGGAACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGG CTCTGGGCACA	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	320	0.0031	-160	c.380 others(15): Show c.380-955_380-796del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTLN_chr9_17130040_17508923	17177997	CCCCACTA others(153): Show CCCCACTAGATTAGCTAGATATAGAGTGTTGATTGGTGCATTCACAAACC CTGAGCTACACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAG ATACAGAGTGCTGATTGGTGTATTTACAATATCTTAGCTAGACATAAAGG TTCTCCCAGTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02258.hp1 HG01109.hp1 HG02109.hp1 HG02258.hp1	a0001 a0013 a0001 a0013	a0001c0055 a0013c0019 a0001c0055 a0013c0019	a0001c0055t0001 a0013c0019t0002 a0001c0055t0001 a0013c0019t0002	a0001c0055t0001g0021 a0013c0019t0002g0119 a0013c0019t0002g0120 a0001c0055t0001g0021 a0013c0019t0002g0119 a0013c0019t0002g0120	3	218	0.0138	-160	c.449 others(19): Show c.449+34627_449+34786del	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTNAP2_chr7_146111801_148425998	146822864	TAAATATA others(153): Show TAAATATACTCATTCTTCAGCATATTTACATGGAAATATACTCATTCTTC AGCATATTTACATGGAAATATACTCATTCTTCAGCATATTTACATGGAAA TATACTCATTCTTCAGCATATTTACATGGAAATATACTCATTCTTCAGCA TATTTACATGG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp1 HG03098.hp2 others(1): Show HG02896.hp1 HG02922.hp1 HG03098.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0020 a0001c0001 a0001c0002 a0005c0020	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0005c0020t0005	a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0002t0001g0021 others(1): Show a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0002t0001g0021 a0005c0020t0005g0016	4	40	0.1000	-160	c.209 others(19): Show c.209-16667_209-16508del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL18A1_chr21_45400165_45518720	45438027	CACAGACA others(153): Show CACAGACACACAGGCACTCTCCTGCACACACTCACACTCACACTCAGACA AGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAGGCACTCT CCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCATACACACA CTCACACTCAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02895.hp1 others(1): Show HG02559.hp1 HG02630.hp1 HG02895.hp1 HG03098.hp1	a0004 a0013 a0014 a0004 a0013 a0014	a0004c0100 a0013c0102 a0014c0039 a0004c0100 a0013c0102 a0014c0039	a0004c0100t0001 a0013c0102t0004 a0014c0039t0009 a0004c0100t0001 a0013c0102t0004 a0014c0039t0009	a0004c0100t0001g0039 a0013c0102t0004g0196 a0014c0039t0009g0197 others(1): Show a0004c0100t0001g0039 a0013c0102t0004g0196 a0014c0039t0009g0197 a0014c0039t0009g0198	4	292	0.0137	-160	c.107 others(19): Show c.107-30211_107-30052del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL28A1_chr7_7352875_7540873	7478196	AGTGCTGA others(153): Show AGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCTGAT TGGTGTATTCAAAATCCCTTAGCTAGACATAAAGATGCTCCAAGTCCCCA CCAGATTAACTAGATACAGAGTGCTGATTGGTGCATTCACAAACCCTGAG CTAGACACAGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0003 a0018c0023t0003	a0018c0023t0003g0165 a0018c0023t0003g0165	1	196	0.0051	-160	c.116 others(19): Show c.1165-1176_1165-1017del	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	13/34			chr7	TogoVar
COMT_chr22_19936772_19974975	19969685	CAGCCAGC others(153): Show CAGCCAGCCCACTCCTATGGATAGACAGACCAGTGAGCCCAAGTGGACAA GTTTGGGGCCACCCAGGGACCAGAAACAGAGCCTCTGCAGGACACAGCAG ATGGGCACCTGGGACCACCTCCACCCAGGGCCCTGCCCCAGACGCGCAGA GGCCCGACACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0150 a0001c0003t0021g0150	1	426	0.0024	-160	c.95 others(10): Show c.952_*1111del	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	6/6	952	INFO_REALIGN_3_PRIME	chr22	TogoVar
CPNE7_chr16_89570758_89602246	89580163	CGTCACCC others(153): Show CGTCACCCGCTGACACAGAACATCTCACCCGTCACACGGAACATCCCGTC ACCCGCTGACACGGAACATCTCCCCCATCACACGGAACATCCCATCACCT GCAGACACAGAACATCTCACCCATCACACGGAACATCCCGTCACCCGCTG ACACAGAACAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	348	0.0029	-160	c.357 others(17): Show c.357+2443_357+2602del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89580348	ATCACCCG others(153): Show ATCACCCGTCACACGGAACATCCCATCACCCGTCACATGGAACATCCCAT CACCCGTCACACGGAACATCCCATCACCCATCACACAGAACATCTCACCC ATCACACGGAACATCTCACCCATCACACGGAACATCCCGTCACCCGCTGA CACAGAACATC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	348	0.0029	-160	c.357 others(17): Show c.357+2682_357+2841del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240985462	CCACACAC others(153): Show CCACACACACACACCCAGGCACTCACTCCACACACACACCCAGGCACTCA CTCTACACACACACCCAGGCACTCACTCCACACACACACACCCAGGCACT CACTGCACACACCCAGCACACACACCCAGGCACTCACTCCACACACACCC AGACACTCACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18944.hp2 HG00099.hp2 NA18944.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0045 a0003c0003t0001g0019 a0003c0003t0001g0045	2	350	0.0057	-160	c.455 others(19): Show c.4551+2435_4551+2594del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSNK1D_chr17_82237667_82278700	82254968	CCGGAGCC others(153): Show CCGGAGCCTCCAGAAGCCAGTCAGCTGAGCCGCCGGAGCCTCGAGAAGCC AGTGAGCTGAGCCGTCGGAGCCTCGAGAAGCCAGTGAGCTGAGCCGCCGG AGCCTCGAGAAGCCAGTGAGCTGGGCCGCCGGAGCCTCGAGAAGCCAGTG AGCTGAGCCGT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	320	0.0031	-160	c.336 others(15): Show c.336+301_336+460del	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	3/8			chr17	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(153): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18942.hp2 NA18994.hp2 others(1): Show HG02738.hp2 NA18942.hp2 NA18994.hp2 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0001 a0001c0002t0016 a0003c0003t0127 a0001c0002t0001 a0001c0002t0016 a0003c0003t0127	a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0016g0218 others(1): Show a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0016g0218 a0003c0003t0127g0089	4	386	0.0104	-160	c.199 others(17): Show c.199-2084_199-1925del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931989	GGAATGAG others(153): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0139 a0001c0002t0139	a0001c0002t0139g0262 a0001c0002t0139g0262	1	386	0.0026	-160	c.198 others(17): Show c.198+2062_198+2221del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932461	CGGGGAGA others(153): Show CGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0278 a0001c0002t0027g0278	1	386	0.0026	-160	c.198 others(17): Show c.198+1590_198+1749del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933101	TGAGGAGA others(153): Show TGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0306 a0001c0002t0008g0306	1	386	0.0026	-160	c.198 others(16): Show c.198+950_198+1109del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933669	GGAATGAG others(153): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0098 a0002c0001t0098	a0002c0001t0098g0158 a0002c0001t0098g0158	1	386	0.0026	-160	c.198 others(15): Show c.198+382_198+541del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760385	ACACACAC others(153): Show ACACACACATACATATATATATGTGTATATATATATATATACACATACAT ATATATATGTATATATATATACATACATATATATATGTATATATATGTAT GTATATATATATACATATATATGTATATATATGTATATATATATATACAT ACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03239.hp2 NA18940.hp1 others(6): Show HG00673.hp1 HG03239.hp2 NA18940.hp1 NA18947.hp2 NA18964.hp1 NA18973.hp1 NA18979.hp2 NA18990.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0001 a0001c0001t0005g0021 a0001c0001t0005g0023 others(6): Show a0001c0001t0005g0001 a0001c0001t0005g0021 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0038 a0001c0001t0015g0041	9	378	0.0238	-160	c.22+ others(17): Show c.22+21657_22+21816del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DEFB104B_chr8_7465308_7480082	7468877	AAATGTCA others(153): Show AAATGTCACATTGTCTTATAGCGTGTTCTGTATGTTGCATTTGGAGTGTG GCATCCTTGGGGGTGGTTCAGTAGTTTCTTCTTTTCCTGTAATTGCAGTG TTGAGACCTAGGGGCTTGCCCAGATATGCACTCAATTTTCAGCACAATAT TTTATAGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	196	0.0051	-160	c.13 others(11): Show c.1319_*1478del	DEFB104B	ENSG00000177023.2	transcript	ENST00000316169.2	protein_coding		1430		chr8	TogoVar
DHRSX_chrX_2214506_2505976	2265889	ACAGGGAG others(153): Show ACAGGGAGCACTGTCCCCAGAGCACCAGTGCTCGGCAGATGCAGGGAGCA CTGTCCCCAGAGCACCAGTGTACAGCAGATGCAGGGAGCACTGTTCCCAG AGCACCAGTGCTCGGCAGACGCAGGAAGCACTGTTCCCAGAGCACCAGTG TACAGCAGACG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0034 a0005c0006t0004g0034	1	50	0.0200	-160	c.596 others(15): Show c.596+691_596+850del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DIRAS1_chr19_2709567_2726372	2713844	ACCACCTC others(153): Show ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CATCCCATCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG03098.hp2 HG01192.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0026 a0001c0001t0016g0074 a0001c0001t0016g0026 a0001c0001t0016g0074	2	412	0.0049	-160	c.32 others(11): Show c.3206_*3365del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		722		chr19	TogoVar
DLGAP2_chr8_732628_1713476	1013790	GCGCCTCC others(153): Show GCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGA GACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTG ACCAGGACAGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG01361.hp2 HG01496.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0023 a0003c0005t0004 a0001c0002t0023 a0003c0005t0004	a0001c0002t0023g0005 a0003c0005t0004g0037 a0001c0002t0023g0005 a0003c0005t0004g0037	2	40	0.0500	-160	c.73+ others(19): Show c.73+105836_73+105995del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014383	GAGACCAG others(153): Show GAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGA CGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTG TGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTC CATTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-160	c.73+ others(19): Show c.73+106418_73+106577del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DOC2B_chr17_137789_186650	170783	GAGCACCA others(153): Show GAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGC CAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGG CTGCAGAGGGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0024 a0001c0002t0023 a0001c0002t0024	a0001c0002t0023g0272 a0001c0002t0024g0273 a0001c0002t0023g0272 a0001c0002t0024g0273	2	339	0.0059	-160	c.453 others(17): Show c.453+1594_453+1753del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOCK10_chr2_224760090_225047468	225018487	CATATATA others(153): Show CATATATATATAATATATATGTAATATTATATATATATAATATATATGTA ATATTATATATATATAATATATATGTAATATTATATATATATAATATATA TGTAATATTATATATATATAATATATATGTAATATTATATATATAATATA TATGTAATATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(98): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01516.hp2 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18945.hp1 NA18945.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp2 NA18970.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19079.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0012 a0013 a0016 a0017	a0001c0001 a0001c0004 a0001c0006 others(21): Show a0001c0001 a0001c0004 a0001c0006 a0001c0018 a0001c0020 a0002c0002 a0002c0003 a0002c0007 a0002c0008 a0002c0009 a0002c0012 a0002c0021 a0002c0022 a0002c0033 a0003c0005 a0004c0013 a0005c0010 a0007c0011 a0008c0032 a0010c0031 a0012c0023 a0013c0026 a0016c0027 a0017c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0004t0002 a0001c0004t0004 a0001c0004t0013 a0001c0004t0014 a0001c0006t0001 a0001c0006t0004 a0001c0018t0001 a0001c0020t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0003t0001 a0002c0007t0003 a0002c0008t0008 a0002c0009t0001 a0002c0009t0003 a0002c0012t0001 a0002c0021t0007 a0002c0022t0004 a0002c0033t0004 a0003c0005t0001 a0004c0013t0006 a0005c0010t0002 a0005c0010t0007 a0007c0011t0001 a0008c0032t0016 a0010c0031t0001 a0012c0023t0001 a0013c0026t0008 a0016c0027t0005 a0017c0035t0002	a0001c0001t0001g0049 a0001c0001t0001g0102 a0001c0001t0001g0112 others(98): Show a0001c0001t0001g0049 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0147 a0001c0001t0002g0154 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0104 a0001c0001t0003g0118 a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0016 a0001c0001t0005g0018 a0001c0001t0005g0024 a0001c0001t0005g0028 a0001c0001t0005g0032 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0006g0004 a0001c0001t0006g0006 a0001c0001t0006g0012 a0001c0001t0006g0020 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0029 a0001c0001t0006g0033 a0001c0001t0006g0035 a0001c0001t0009g0110 a0001c0001t0011g0009 a0001c0001t0015g0115 a0001c0004t0002g0091 a0001c0004t0004g0013 a0001c0004t0013g0101 a0001c0004t0014g0092 a0001c0006t0001g0107 a0001c0006t0004g0003 a0001c0006t0004g0014 a0001c0018t0001g0108 a0001c0020t0002g0054 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0076 a0002c0002t0001g0099 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0153 a0002c0002t0001g0157 a0002c0002t0001g0168 a0002c0002t0003g0086 a0002c0002t0003g0155 a0002c0002t0004g0015 a0002c0002t0004g0034 a0002c0003t0001g0087 a0002c0007t0003g0077 a0002c0007t0003g0082 a0002c0008t0008g0156 a0002c0008t0008g0163 a0002c0009t0001g0079 a0002c0009t0003g0105 a0002c0012t0001g0083 a0002c0012t0001g0084 a0002c0021t0007g0114 a0002c0022t0004g0031 a0002c0033t0004g0042 a0003c0005t0001g0052 a0003c0005t0001g0053 a0003c0005t0001g0075 a0003c0005t0001g0078 a0004c0013t0006g0036 a0005c0010t0002g0096 a0005c0010t0007g0098 a0007c0011t0001g0080 a0008c0032t0016g0172 a0010c0031t0001g0094 a0012c0023t0001g0047 a0013c0026t0008g0089 a0016c0027t0005g0010 a0017c0035t0002g0103	101	172	0.5872	-160	c.123 others(19): Show c.123+23605_123+23764del	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK2_chr5_169632275_170088382	169834260	TCCTACTC others(153): Show TCCTACTCACATGCTCAGTCAGTGCTCTCCAGCTAAATGTCCCAACCAGA TCACCCTGTAGTAAGCTCACAGACCACAAGTCCTACTCACATGCTCAGTC AGTGCTCTCCAGCTAAATGTCCCAACCAGGTCACCCTGCAGTAAGCTCAC AGACCACAAGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0144 a0001c0003t0001g0144	1	184	0.0054	-160	c.270 others(19): Show c.2704-6244_2704-6085del	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	26/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK5_chr8_25179689_25420711	25216145	TATACAAT others(153): Show TATACAATATGTATATATGTATACAATATGTGCATACAATATGTATATAT GTATACAATATGTGCATACAATATGTATATATGTATACAATATGTGCATA CAATATGTATATATGTATACAATATGTGCATACAATATGTATATATGTAT ACAATATGTGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02886.hp2 others(1): Show HG02486.hp1 HG02622.hp2 HG02886.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0015 a0001c0003t0028 a0001c0005t0023 others(1): Show a0001c0002t0015 a0001c0003t0028 a0001c0005t0023 a0001c0005t0033	a0001c0002t0015g0152 a0001c0003t0028g0127 a0001c0005t0023g0171 others(1): Show a0001c0002t0015g0152 a0001c0003t0028g0127 a0001c0005t0023g0171 a0001c0005t0033g0128	4	210	0.0191	-160	c.44- others(17): Show c.44-27258_44-27099del	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216512	TATGTATA others(153): Show TATGTATACAATATGTGCATACAATATGTATATATGTATACAATATGTGC ATACAATATGTATAGATGTATACAATATGTGCATACAATATGTATAGATG TATACAATATGTGCATACAATATGTATAGATGTATACAATATGTGTATAC AATATGTATAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0093 a0001c0004t0031g0093	1	210	0.0048	-160	c.44- others(17): Show c.44-27145_44-26986del	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DVL1_chr1_1330278_1354418	1350281	GGGGCAGG others(153): Show GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	344	0.0029	-160	c.-13 others(11): Show c.-1376_-1217del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		864		chr1	TogoVar
DVL1_chr1_1330278_1354418	1351121	GGGGCAGG others(153): Show GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	344	0.0029	-160	c.-22 others(11): Show c.-2216_-2057del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1704		chr1	TogoVar
DYNC2I2_chr9_128628653_128661847	128653566	ATTAGCCA others(153): Show ATTAGCCAGGCGTGCTGGCATGCACCTGTAGTCCCAGCTACTCGGGAAGC TGAGGCAGGAGAATCGCTTGAAGCCGGGAGGCGGAAGTTGCAGTGAGCTG AGATCACGCCATTGCACTCCAGCCTAGGCCACAGAGCGAGACTCTGTCTC CAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02258.hp1 HG02280.hp1 HG01099.hp1 HG02258.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0281 a0001c0003t0001g0283 a0001c0003t0001g0286 a0001c0003t0001g0281 a0001c0003t0001g0283 a0001c0003t0001g0286	3	368	0.0082	-160	c.186 others(17): Show c.186+2815_186+2974del	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
EIF4B_chr12_53001456_53047215	53030063	AATACAAA others(153): Show AATACAAAAGTTAGCTGAGCGTGGTAGCATGTGCCTGTAGTCCCCGTGTC TTAGGAGACTGAGGTAGGAGGGTCGCTTGAGCCTGGGAGGTCAAGGCTGC AGTTAGCCAAGGTCTCATTTCAGCTTGGGCAACATAGTGAGACCCCATCT CTGCAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(252): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0002c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0006t0001 a0001c0007t0001 a0002c0004t0001 a0002c0004t0010 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(248): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0006g0016 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0008g0031 a0001c0001t0008g0035 a0001c0001t0008g0181 a0001c0001t0008g0183 a0001c0001t0008g0199 a0001c0001t0010g0144 a0001c0001t0014g0014 a0001c0001t0014g0071 a0001c0001t0016g0092 a0001c0001t0017g0079 a0001c0001t0021g0025 a0001c0001t0022g0263 a0001c0001t0023g0159 a0001c0001t0024g0228 a0001c0001t0027g0184 a0001c0001t0028g0224 a0001c0001t0029g0196 a0001c0006t0001g0125 a0001c0006t0001g0153 a0001c0007t0001g0101 a0002c0004t0001g0052 a0002c0004t0001g0103 a0002c0004t0001g0105 a0002c0004t0001g0117 a0002c0004t0010g0050 a0004c0008t0001g0152	255	372	0.6855	-160	c.979 others(17): Show c.979+1879_979+2038del	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIPR1_chr2_3183970_3382818	3304446	GTCCCGTC others(153): Show GTCCCGTCCAATTCAGCCCTCCACTCCCGTCCAGTTCAGCCCTCCAGTCC CATCAGTTCAGCCCTCCACTCCCGTCCAGTTCAACCCTCCAATCCCATCC AGTTCAACCTTCCACTCCCGTCCTGTTCAGCCCTCCAATCCCGTCCAGTT CAACCTTCCAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(244): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(244): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0091 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0050 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0076 a0001c0001t0009g0248 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124 a0001c0002t0002g0142 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0004t0001g0074 a0001c0005t0001g0104 a0001c0006t0003g0203	247	250	0.9880	-160	c.259 others(19): Show c.259+33411_259+33570del	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EML5_chr14_88607431_88797953	88796212	ATATATAT others(153): Show ATATATATATTATATGTTATATATATTATATATATTATATATATATTATA TGTTATATATATTATATATATATTATATGTTATATATATTATATATATAT TATATGTTATATATATTATATATATATTATATGTTATATATTTTATATAT ATATTATATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	332	0.0030	-160	c.-38 others(11): Show c.-3869_-3710del	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3260		chr14	TogoVar
ERC1_chr12_986223_1500931	1121640	GATCTCTA others(153): Show GATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTATCTCTATC TCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTC TATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTATCTCTA TCTCTATCTCT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0109 a0001c0001t0030g0109	1	162	0.0062	-160	c.156 others(19): Show c.1569+5630_1569+5789del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESYT2_chr7_158725997_158834509	158729490	GAGGAGCA others(153): Show GAGGAGCAGGTGTGGAGATAGTGGGGGAGGAGCAAGCGTGGAGGCGGGAG GGTTGGAGCAGGTGTGGAGGTGCTGTGGAAGAGGGGCAAGTGAGGATGTG CTGGCGGGGAGGAGCAAGTGTGGAGGTGGGGGCGTTGGAGCAGGTATGGA GGTGCTGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 NA18906.hp2 HG02970.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0295 a0002c0002t0002g0268 a0002c0002t0002g0295	2	370	0.0054	-160	c.45 others(11): Show c.4557_*4716del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1506		chr7	TogoVar
ETV6_chr12_11644674_11900377	11874493	CACATATG others(153): Show CACATATGTGTATGTGCGTGTGTACACACATATATGTGTATGTGCGTGTG TACACACATATATGTGTATGTGCGTGTGTACACATATATGTGTGTATACA CATATATGTGTATGTGCGTGTGTACACACATATGTGTATGTGTGTGTGTA TATACACATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG02615.hp1 HG01109.hp2 HG02451.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0082 a0001c0002t0011 a0001c0002t0029 a0001c0001t0082 a0001c0002t0011 a0001c0002t0029	a0001c0001t0082g0247 a0001c0002t0011g0228 a0001c0002t0029g0223 a0001c0001t0082g0247 a0001c0002t0011g0228 a0001c0002t0029g0223	3	262	0.0115	-160	c.100 others(19): Show c.1009+4525_1009+4684del	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	5/7			chr12	TogoVar
ETV7_chr6_36361194_36392669	36363912	GTAGATAC others(153): Show GTAGATACAGAGTGCCGATTGGTGTATTTACAATCCCTGAGCTAGACATA AAGGTTCTCCAAGGCCCCACCAGAGCAGCTAGATACAGAGTGTGGATTGG TGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTATTTAC AAACCTTGAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 NA18940.hp2 NA18974.hp2 others(2): Show HG04199.hp1 NA18940.hp2 NA18974.hp2 NA18980.hp1 NA19088.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0008 a0001c0006t0005 a0001c0006t0008	a0001c0006t0005g0013 a0001c0006t0008g0108 a0001c0006t0008g0241 a0001c0006t0005g0013 a0001c0006t0008g0108 a0001c0006t0008g0241	5	462	0.0108	-160	c.25 others(11): Show c.2573_*2732del	ETV7	ENSG00000010030.14	transcript	ENST00000340181.9	protein_coding		2281		chr6	TogoVar
EXOC2_chr6_480154_698139	601244	ACGAATCC others(153): Show ACGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCAC ACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTC ACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAA CACCCCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 NA18522.hp2 HG02559.hp2 HG02717.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0027 a0001c0007t0002 a0001c0001t0007 a0001c0001t0027 a0001c0007t0002	a0001c0001t0007g0212 a0001c0001t0027g0272 a0001c0007t0002g0196 a0001c0001t0007g0212 a0001c0001t0027g0272 a0001c0007t0002g0196	3	272	0.0110	-160	c.743 others(17): Show c.743-2179_743-2020del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602122	GTGCGAAT others(153): Show GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCC ACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	272	0.0037	-160	c.743 others(17): Show c.743-3057_743-2898del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC6B_chr2_72170984_72831033	72401507	ATATATAT others(153): Show ATATATATACATATATACATATATATATATATATATATGTGTATATATAT ATATATATACATATATATATATATACATATATATATATATATATATGTGT ATATATATATATATACATATATATATATATACATATATACATATATATAT ATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0012	1	104	0.0096	-160	c.198 others(21): Show c.1981-21797_1981-21638del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FLT4_chr5_180596506_180654600	180635235	TGGGTGGA others(153): Show TGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATG GATGGATGGAAGTATGGGTGGATGGGTGGATGGATGCATGGATGGATGGA AGTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGATGGAAGTATG GGTGGATGGGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01169.hp1 others(6): Show HG00280.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0002c0002t0001 a0002c0003t0002	a0001c0001t0001g0356 a0001c0001t0006g0343 a0001c0001t0012g0357 others(5): Show a0001c0001t0001g0356 a0001c0001t0006g0343 a0001c0001t0012g0357 a0002c0002t0001g0002 a0002c0002t0001g0353 a0002c0002t0001g0355 a0002c0003t0002g0325 a0002c0003t0002g0336	9	388	0.0232	-160	c.59- others(15): Show c.59-3617_59-3458del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180639210	GATGGACA others(153): Show GATGGACAGGTAGATGAGTGGATGGGTGGACGGATGGATGGATGGATGAA TGGATGGATGGATGCATGGGTGGGTGGAGGAGTGGATGGGTGGGTGAGTA GAAGGATGGATGGGTGGATGGATGGACAGACAGATGAATGGATGGATGGA CAGGTAGATGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01123.hp1 others(20): Show HG00280.hp1 HG01070.hp1 HG01123.hp1 HG01433.hp1 HG02738.hp2 HG03704.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp2 NA18994.hp1 NA18994.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA21309.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0026	a0001c0001 a0001c0009 a0002c0002 others(5): Show a0001c0001 a0001c0009 a0002c0002 a0002c0003 a0002c0008 a0002c0038 a0010c0021 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0009t0004 a0002c0002t0001 a0002c0002t0004 a0002c0002t0014 a0002c0002t0022 a0002c0003t0003 a0002c0008t0004 a0002c0008t0032 a0002c0038t0004 a0010c0021t0001 a0026c0030t0030	a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0215 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0306 a0001c0009t0001g0063 a0001c0009t0004g0013 a0002c0002t0001g0030 a0002c0002t0004g0033 a0002c0002t0004g0056 a0002c0002t0004g0064 a0002c0002t0014g0031 a0002c0002t0022g0313 a0002c0003t0003g0028 a0002c0008t0004g0296 a0002c0008t0004g0304 a0002c0008t0004g0324 a0002c0008t0032g0305 a0002c0038t0004g0068 a0010c0021t0001g0029 a0026c0030t0030g0303	23	388	0.0593	-160	c.59- others(15): Show c.59-7592_59-7433del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180639227	GTGGATGG others(153): Show GTGGATGGGTGGACGGATGGATGGATGGATGAATGGATGGATGGATGCAT GGGTGGGTGGAGGAGTGGATGGGTGGGTGAGTAGAAGGATGGATGGGTGG ATGGATGGACAGACAGATGAATGGATGGATGGACAGGTAGATGAGTGGAT GGGTGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02559.hp2 HG01515.hp1 HG01517.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0243 a0002c0003t0001g0003 a0002c0003t0001g0243	3	388	0.0077	-160	c.59- others(15): Show c.59-7609_59-7450del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GAL3ST2_chr2_241771822_241809287	241807571	CTCCCCCC others(153): Show CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0036	1	314	0.0032	-160	c.34 others(11): Show c.3406_*3565del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3285		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807638	TGCAGGCC others(153): Show TGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	314	0.0032	-160	c.34 others(11): Show c.3473_*3632del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3352		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807810	TCCCTCCC others(153): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 NA19004.hp2 HG01496.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0203 a0002c0002t0001g0104 a0001c0001t0001g0203 a0002c0002t0001g0104	2	314	0.0064	-160	c.36 others(11): Show c.3645_*3804del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3524		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807852	CTCCCCCC others(153): Show CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	314	0.0032	-160	c.36 others(11): Show c.3687_*3846del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3566		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132213061	GTCTGCAG others(153): Show GTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCC TTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTC GACACGGAAACCCCACCCGGGTCTGCAGCCTTCAGACCTCGACACGGAAA CCCCACCCGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(124): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0028 a0001c0030 a0001c0031 a0001c0035 a0001c0038 a0001c0040 a0004c0024	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(24): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0010 a0001c0008t0002 a0001c0009t0002 a0001c0012t0002 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0003 a0001c0022t0001 a0001c0028t0001 a0001c0030t0001 a0001c0031t0001 a0001c0035t0009 a0001c0038t0001 a0001c0040t0007 a0004c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0019 others(124): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0008g0003 a0001c0001t0011g0050 a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0034 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0163 a0001c0002t0013g0021 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0030 a0001c0003t0001g0041 a0001c0003t0001g0123 a0001c0003t0001g0128 a0001c0003t0001g0137 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0016 a0001c0004t0001g0020 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0121 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0005t0001g0037 a0001c0006t0001g0013 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0007t0001g0015 a0001c0007t0001g0138 a0001c0007t0010g0108 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0176 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0012t0002g0179 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0012t0002g0183 a0001c0015t0001g0024 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0018t0001g0039 a0001c0019t0003g0077 a0001c0022t0001g0120 a0001c0028t0001g0144 a0001c0030t0001g0110 a0001c0031t0001g0038 a0001c0035t0009g0140 a0001c0038t0001g0046 a0001c0040t0007g0002 a0004c0024t0001g0160	127	183	0.6940	-160	c.107 others(19): Show c.1078-9531_1078-9372del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

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