Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
NFE2L3_chr7_26147198_26192137	26182648	ACTGGGTT others(397): Show ACTGGGTTTACTGCTCAGGTCCTCTCTAAAAAGAACTCTGAAGAGTTCTT TCAACTAGAAAGAGGCTAAAGCATAAAGGCCAGGAGTGAGATGAAGCATC GATAAATTGGTTTTAAAAAAACAAATTGGAGTAAATGTAAATAAGTATTG ACTGTAAAAATATTTTTTGAGACGAGATCTCATTCTGTTAGGCTGGAGTG TGGCAGCGCTGTCACGACTCACTGCAGCCTCAACCTCCTGGACTCAGGCA GTCCTCCTGCCTCACCATCCCGGAGTAGCTGGGACCACAGGTGCACACCA CCACACCCAGCTAATTTAATTTGTAGAAACGGTCTTGTTGTGTTGCCCAA GCTGGTCTCCAACTCCTGGGCTCAGGCGATCTGCCTGCTTTGGCCTCCCA AAGTG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0014 a0016c0018t0014	a0016c0018t0014g0141 a0016c0018t0014g0141	1	400	0.0025	-404	c.751 others(16): Show c.751-1047_751-644del	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NGEF_chr2_232873701_233018256	232969362	AGCCTCCC others(397): Show AGCCTCCCAAAGAGCTGGGATTACAGGCACAAGCTGCTCTGCCTGGCCAA GATACAGTGAACTATCTCTCCCTCCCTCCCTCCCTCCCCTTCCTTCCTTC CTTCCTTCCTTCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCCT GCTTCCTTCATTTTTTTGAGACAGTCTCACTCCATCACCAGGATTGGAGT GCAGTGGCTCTATCTCACCTCACTGCAACCTCCACATCCCGGGTTCAATC GATTCTCTTCCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGAGTGCCA CCACACCTGGCTAATTTGTTTTTTGTATTTTTAGTAGAGACAGGGTTTTG CCATGTTGGCCAGGCTTGTCTCAAACTCCTGCCCTCAAGTGATCTGCCTG CCTCG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0024 a0001c0004t0024	a0001c0004t0024g0010 a0001c0004t0024g0010	1	362	0.0028	-404	c.383 others(15): Show c.383+448_383+851del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
OR4C46_chr11_54598069_54608998	54599066	ATAGCTCT others(397): Show ATAGCTCTCACCTCACATAGGTACTATTATTTTTGTAAGATTTAAGATCT ATTCTCCCAGTAAATTTCAAGTATACATTACATTATTATTAAGTATAATC ACCGGGCTGTTCATTTGATCTTCAGGACTTTATTCACTTTGTTTAACTGA AATGTTGTACTTTCAGACCTACATCTCCACATTATGCCTCCCCCAACCCC TGTCAACCACAATTCTGCCTCTGTGCCTTGCCTCCAGGGCTTGTTTCTGA GGATAGGTCCTAGGATCACCTATGTGAGTAATATTTAATACTACATTAAG ACTTGAACATCGTTCAACATATTCAAAATCTCATTAATCTTCTCTGTCTT CCTTCCATCCAGTGATCTAAGCCAGGGCCCAAGTTTCATCTGTGACTTCT CTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18970.hp2 NA18941.hp1 NA18970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0000 a0003c0003t0000g0000	2	444	0.0045	-404	c.35 others(11): Show c.3599_*4002del	OR4C46	ENSG00000185926.1	transcript	ENST00000328188.1	protein_coding		4002		chr11	TogoVar
PLEKHA4_chr19_48832097_48873617	48834824	GGCCTGGA others(397): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG TGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGC TGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03209.hp1 HG02109.hp2 HG03209.hp1	a0002 a0015 a0002 a0015	a0002c0022 a0015c0021 a0002c0022 a0015c0021	a0002c0022t0010 a0015c0021t0004 a0002c0022t0010 a0015c0021t0004	a0002c0022t0010g0051 a0015c0021t0004g0278 a0002c0022t0010g0051 a0015c0021t0004g0278	2	300	0.0067	-404	c.20 others(11): Show c.2061_*2464del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2272		chr19	TogoVar
RASA3_chr13_113972783_114137623	114005852	CCCTCCTG others(397): Show CCCTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCCCTCCTGCCCT GCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGATGCCAC CTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCC CTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGC CGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTA CCCTTCTCCCCACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCT CCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGA CGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACC CTTCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	67	0.0149	-404	c.174 others(19): Show c.1742+1277_1742+1680del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
SERPINF2_chr17_1737871_1760265	1739714	AGGCGGCC others(397): Show AGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	445	0.0023	-404	c.-31 others(11): Show c.-3198_-2795del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3156		chr17	TogoVar
SHISAL1_chr22_44238665_44317951	44262288	CAAGATGC others(397): Show CAAGATGCTCCTGGCAGGGGTGAGTCTGCAGAGGCGGCAGCCACAAAGCC TTCATCTGCCAGGAGAAGGTGTCTGGACCTGATCCCAAAGTTGTGGGGAG CCGACATGGAAGATCATGCCTAATTCTCATAGCAGCAAGATTAGGGCTGC AGGGTACTGATTATCTCTTCTGTGCCGGGCACTGTGCCAAGCACCTCCCA TGCGTGTGGAGCCTCAGTTCTCTCAGCAGCCTCAGGGGTGGGGACCACTA GTCCCTGCAACTTGCTGATGAGGAAAATGAGGCTCAGAGAGACAATGTCA CTAGCCCAGAACTGCATATCTAGCTAGCAGTGGAGCTTGGCCTGTGCTGC TGACCGCAGGGCCACACGGCCAGCCCCTCTCGTCTGGGGCAGTGGCCTGG GCAGG	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19003.hp2 NA18612.hp1 NA19003.hp2	a0001 a0001	a0001c0062 a0001c0102 a0001c0062 a0001c0102	a0001c0062t0002 a0001c0102t0059 a0001c0062t0002 a0001c0102t0059	a0001c0062t0002g0292 a0001c0102t0059g0218 a0001c0062t0002g0292 a0001c0102t0059g0218	2	380	0.0053	-404	c.600 others(19): Show c.600-13007_600-12604del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291240	TCCGTGTC others(397): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCC CATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCG TGTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01175.hp2 others(12): Show HG01099.hp1 HG01123.hp1 HG01175.hp2 HG01891.hp2 HG02523.hp1 HG02717.hp1 HG03195.hp1 HG03209.hp1 HG03492.hp2 HG03579.hp2 HG03710.hp1 NA18522.hp2 NA18944.hp2 NA18964.hp1 NA18971.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0002c0003 a0004c0014 a0010c0025	a0001c0001t0001 a0001c0002t0003 a0001c0004t0002 others(5): Show a0001c0001t0001 a0001c0002t0003 a0001c0004t0002 a0001c0006t0003 a0001c0010t0002 a0002c0003t0002 a0004c0014t0001 a0010c0025t0001	a0001c0001t0001g0108 a0001c0001t0001g0151 a0001c0001t0001g0216 others(11): Show a0001c0001t0001g0108 a0001c0001t0001g0151 a0001c0001t0001g0216 a0001c0001t0001g0245 a0001c0002t0003g0053 a0001c0004t0002g0024 a0001c0004t0002g0027 a0001c0006t0003g0187 a0001c0010t0002g0009 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0004c0014t0001g0073 a0010c0025t0001g0227	15	284	0.0528	-404	c.121 others(18): Show c.1214+855_1214+1258del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNF641_chr12_48332180_48355919	48332491	GGGGCGGC others(397): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACGCCCCCACCTCCCTCCC GGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01891.hp2 HG02055.hp1 others(9): Show HG01099.hp1 HG01891.hp2 HG02055.hp1 HG02559.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0005c0008	a0001c0001t0006 a0001c0001t0014 a0001c0001t0031 others(3): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0031 a0001c0004t0037 a0001c0006t0006 a0005c0008t0036	a0001c0001t0006g0009 a0001c0001t0014g0085 a0001c0001t0031g0079 others(3): Show a0001c0001t0006g0009 a0001c0001t0014g0085 a0001c0001t0031g0079 a0001c0004t0037g0093 a0001c0006t0006g0084 a0005c0008t0036g0050	12	408	0.0294	-404	c.10 others(13): Show c.10078_*10481del	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4688		chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289660	CCTGCTCC others(396): Show CCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	295	0.0034	-403	c.35 others(11): Show c.3501_*3903del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2730		chr1	TogoVar
ANKRD33B_chr5_10559070_10662816	10639040	GGGTGACG others(396): Show GGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGC GGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATG TTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGT TGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGG GTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGG CGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGC GGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGATGTT AGGC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	324	0.0031	-403	c.637 others(16): Show c.637+933_637+1335del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
CACNG7_chr19_53904278_53948950	53922534	GCTGGTCA others(396): Show GCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCC CAGGACTGGTCATTGGTGCAGTTGTCCCAGGCCTGGTCATTGGTGCAGTT GTCCCCAGGCCTGGTCATTGGTGCAGTTGTCCCAGGCTGGTCATTGGTGG AGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTG GTGGAGTTGTCCCAGGTCTGGTCATTGGTGGGGTTGTCCCAGGCTCGTCA TTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTG GTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGACTCAGG CTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGTCCC AGGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01891.hp2 others(6): Show HG01109.hp1 HG01243.hp2 HG01891.hp2 HG02145.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0355 a0001c0001t0002g0015 a0001c0001t0006g0017 a0001c0001t0006g0020 a0001c0002t0002g0019	9	364	0.0247	-403	c.424 others(17): Show c.424+7103_424+7505del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
COL5A1_chr9_134636803_134849843	134849440	CCAGGAAG others(396): Show CCAGGAAGCACAGTATCACACCTCCCAGGAAGCACGGGATCACACCTCCC AGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAG GAACCATGATATCACACCTCCCAGGGAGCACAGGATCAGACCCCCCAGGG AGCACAGGATCACACCTCTCAGGAAGAACAGGATCACACCTCCCGGGGAA GACGATAGCACACCTCCCAGCGAGTGTGAGATCACACCTCCCAGTGAGCG TGGGATCACACCTCCCAGGAAGCATGGTATCACACCTCCCAGGAAGCACA GGATCACACCTCCCAGGAAGCACGGGATCACACCTCCCAGGAAGCATGGG ATCACACCTCCCAGGGAGCACCAGATCACACCTCCCAGGAACCACGATAT CACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00735.hp2 others(32): Show HG00280.hp2 HG00642.hp2 HG00735.hp2 HG01081.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0018 a0001c0019 a0001c0025 a0001c0026 a0001c0032 a0001c0039 a0001c0045 a0001c0047 a0001c0050 a0001c0060 a0001c0065	a0001c0001t0007 a0001c0003t0001 a0001c0003t0004 others(27): Show a0001c0001t0007 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0015 a0001c0003t0025 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0048 a0001c0007t0001 a0001c0007t0004 a0001c0009t0023 a0001c0010t0026 a0001c0018t0008 a0001c0019t0001 a0001c0025t0008 a0001c0026t0041 a0001c0032t0010 a0001c0039t0004 a0001c0045t0004 a0001c0047t0003 a0001c0050t0004 a0001c0060t0004 a0001c0065t0003	a0001c0001t0007g0215 a0001c0001t0007g0248 a0001c0003t0001g0196 others(32): Show a0001c0001t0007g0215 a0001c0001t0007g0248 a0001c0003t0001g0196 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0007g0003 a0001c0003t0008g0187 a0001c0003t0010g0039 a0001c0003t0010g0259 a0001c0003t0015g0188 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0004t0004g0224 a0001c0005t0001g0107 a0001c0005t0003g0265 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0048g0047 a0001c0007t0001g0195 a0001c0007t0004g0028 a0001c0009t0023g0263 a0001c0010t0026g0049 a0001c0018t0008g0179 a0001c0019t0001g0214 a0001c0025t0008g0203 a0001c0026t0041g0036 a0001c0032t0010g0238 a0001c0039t0004g0197 a0001c0045t0004g0104 a0001c0047t0003g0032 a0001c0050t0004g0034 a0001c0060t0004g0240 a0001c0065t0003g0009	35	272	0.1287	-403	c.71 others(11): Show c.7138_*7540del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4598		chr9	TogoVar
DDX51_chr12_132131594_132149319	132148916	CACACCAC others(396): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCAC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG04199.hp1 HG03041.hp2 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0006t0006 a0003c0003t0001 a0003c0006t0006	a0003c0003t0001g0002 a0003c0006t0006g0088 a0003c0003t0001g0002 a0003c0006t0006g0088	2	334	0.0060	-403	c.-50 others(11): Show c.-5023_-4621del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4598		chr12	TogoVar
DPP6_chr7_154047398_154899285	154656880	AGCTGCGT others(396): Show AGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGATGCGTGGGAG GAGGTGCTCATGGGTGGGTGGAGAGGCTGTGTGGGAGGAGGTGCCCAGAG ATGGGTGGAGAGGCTGCGTGGGAGGAGGTGCCCAGAGATGAGTGGAGAGG CTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGA GGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGT GGGTGGAGAGGCTGCGTGGGAGGAGATGCTCGAGTGGGTGGAGAGGCTGC GTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGGTG CTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGATGCTCGAGTGGGTGG AGAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0017 a0001c0015t0017	a0001c0015t0017g0036 a0001c0015t0017g0036	1	38	0.0263	-403	c.681 others(19): Show c.681-12441_681-12039del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
FLT4_chr5_180596506_180654600	180617769	GTCCTATT others(396): Show GTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCA CGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCA CGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCC ACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCC ACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCC ACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACC CACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACC CACA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 NA18906.hp2 HG02647.hp1 HG03195.hp1 NA18906.hp2	a0002 a0029 a0002 a0029	a0002c0003 a0029c0028 a0002c0003 a0029c0028	a0002c0003t0001 a0002c0003t0010 a0029c0028t0010 a0002c0003t0001 a0002c0003t0010 a0029c0028t0010	a0002c0003t0001g0375 a0002c0003t0010g0178 a0029c0028t0010g0179 a0002c0003t0001g0375 a0002c0003t0010g0178 a0029c0028t0010g0179	3	388	0.0077	-403	c.300 others(17): Show c.3001+598_3002-776del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
FOXQ1_chr6_1307098_1319758	1319065	CATGGTGG others(396): Show CATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAG GAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAA AATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTT TGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGC CTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCG GGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00558.hp1 others(32): Show HG00099.hp1 HG00099.hp2 HG00558.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02083.hp1 HG02293.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03942.hp2 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18966.hp2 NA18989.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0004 a0009c0014 a0001c0001 a0002c0004 a0009c0014	a0001c0001t0002 a0002c0004t0001 a0009c0014t0001 a0001c0001t0002 a0002c0004t0001 a0009c0014t0001	a0001c0001t0002g0000 a0002c0004t0001g0000 a0009c0014t0001g0000 a0001c0001t0002g0000 a0002c0004t0001g0000 a0009c0014t0001g0000	35	406	0.0862	-403	c.51 others(11): Show c.5150_*5552del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4308		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805599	TCCCCCCT others(396): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAG GCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0055 a0001c0009t0001g0058 a0001c0009t0001g0055 a0001c0009t0001g0058	2	314	0.0064	-403	c.14 others(11): Show c.1434_*1836del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1313		chr2	TogoVar
IL3RA_chrX_1331785_1387689	1366458	CGCGGGGT others(396): Show CGCGGGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGG GGTGCGCGGGGTGAGCCCGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGC GCGGGGTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGCGGTGCGCGGGGT GAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCC GGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTG AGCGGGGTGCGCGGAGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCG GGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGC GCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGG GTGA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	115	0.0087	-403	c.874 others(17): Show c.874+1215_874+1617del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF26B_chr1_245149985_245714432	245618847	AGGTTCCT others(396): Show AGGTTCCTTGAGACAGAGTGCCACAGTGCTGGGGCTGTGTCTGCTGCGTG CTGTTGGTGAGCTTGTCCAAGCCCTATTAGACTATAGGTTCCTTGAGACA GAGTGCCACAGTCCTGGGGCTGTGTCCACTGCATCAGTGTCCAAGCCCTA TTAGACTATAGGTTCCTTGAGACAGAGTGCCACAGTGCTGGGGCTGTGTC CACTGCATCAGTGTCCAAGCCCTATTAGACTATAGGTTCCTTGAGACAGA GTGCCACAGTGCTGGGGCTGTGTCTGCTGCGTGCTGTTGGTGAGCTTGTC CAAGCCCTATTAAACTATGGGTTCCTTGAGACAGACTGCCACAGTGCTGG GGCTGTGTCTGCTGCGTGCTGTTGGTGAGCTTGTCCAAGCCCTATTAGAC TATG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG03209.hp1 HG02922.hp1 HG03195.hp1 HG03209.hp1	a0001 a0020 a0001 a0020	a0001c0014 a0001c0042 a0020c0033 a0001c0014 a0001c0042 a0020c0033	a0001c0014t0001 a0001c0042t0030 a0020c0033t0031 a0001c0014t0001 a0001c0042t0030 a0020c0033t0031	a0001c0014t0001g0055 a0001c0042t0030g0081 a0020c0033t0031g0002 a0001c0014t0001g0055 a0001c0042t0030g0081 a0020c0033t0031g0002	3	160	0.0188	-403	c.209 others(19): Show c.2098+6912_2098+7314del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRSAM1_chr9_127446510_127508499	127452034	GGGTGCAC others(396): Show GGGTGCACCCGCGGGTCCCAACGTGGGGGATCCCTCCATCCGCAAAGCCA GGTCAGCCACTGCCCACCCCACCCCAGGAAATATGGGTGTGGCCCTCCCC CCGCATCTAGGCTGGACGTCGGAGAGGGAGGGACAGGCATGTGGGGCAGC CTGGAAAGAACTGATCTTCGGGGAGGGGTGGGAGAGCGATGGTGGTTGGG AGGAAGTGGGGAGGGCTGCACATCAGGAAGGGGGTGCAAGAGGGTTAGTG ATTGGGGAGCAGAAGGGTAAGTGCTGGTCATCAGGGACGGATGGGGGAGG GCTGTTTTCAAACCATTCCCCATCCTTGCAGGCAGGTGGGGTGACAAGAG GGCCTGAACTGGCTCTGCAGGCCTGGCTGCCTCCCCAGACAGCCCCGCCC CCGT	G G	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA18974.hp2 NA18974.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0009 a0004c0006t0004g0009	1	340	0.0029	-403	c.-80 others(11): Show c.-80_-33+355del	LRSAM1	ENSG00000148356.15	transcript	ENST00000300417.11	protein_coding	2/26	2089	INFO_REALIGN_3_PRIME	chr9	TogoVar
LYPD8_chr1_248734415_248760759	248747586	GCCCGCAC others(396): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCC ACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGG GCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG CACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCC CCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCAC CCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACG GCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGC ATCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0047	1	374	0.0027	-403	c.337 others(15): Show c.337+300_337+702del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747803	GCCCGCAC others(396): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGG GCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAG CACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGC CCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCAC CCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACG GCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGC ATCC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	374	0.0027	-403	c.337 others(14): Show c.337+83_337+485del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MIER2_chr19_300573_349796	300610	AGGGACTG others(396): Show AGGGACTGTGGGACACCCAGGGCCGTGACACCAGTGACTGGAGAGACTGT GGGTCACCCATGGCCGTGACACCAGTGACTGGAGAGACTGTGGGTCACCC ATGGCCGTGACACCAGTGACAGTGACTGTGGGACACCCATGGCCGTGACA CCAGTGACTGGAGAGACTGTGGGACACCCATGGCCGTGACACCAGTGACT GGAGAGACTGTGGGTCACCCAGGGCCGTGACACCAGTGACTGGAGAGACT GTGGGTCACCCAGGGCCGTGACACCAGTGACTGCAGAGACTGTGGGACAC CCATGGCCGTGACACCAGTGACTGGAGACTGTGGGACACCCATGGCCGTG ACACCAGTGACTGGAGAGACTGTGGGTCACCCAGGGCCGTGACACCAGTG ACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	384	0.0026	-403	c.56 others(11): Show c.5677_*6079del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4962		chr19	TogoVar
MROH1_chr8_144143016_144266926	144202831	GCACCCGC others(396): Show GCACCCGCTCTCTGTGGAGGGGCGGGGGGGGGAGCGCCCAATGTCTGTGG AGGGGCAGGGAAGGAAGCGCGGGCTCTCTGTGGAGGGGCTGGGAGAGGAG CGCCCGCTCTCTGTAGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGA GGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAG CGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGA GGGGGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGAGG GGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGCTGTC TGTGGAGGGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGG GGGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	140	0.0071	-403	c.114 others(19): Show c.1141+2291_1141+2693del	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43			chr8	TogoVar
PXDN_chr2_1626887_1749515	1704225	GCAACTCC others(396): Show GCAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGACAGCTCC AGGTGAAGCGGGGGACAGCTCCAGGTGAAGGAAGGACAACTCCAGGTGAA GCGGGGGACAACTCCAGGTGAAAGAGGGACAACTCCAGGTGAAGGGGGGG CAACTCCAGGTGAAGGGGGGGGCAACTCCAGGTGAAGGAGGGCAACTCCA GGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAG GGGGGGGCAACTCCAGGTGAAGGAGGGCAACTCCAGGTGAAGGTGGGGGA CAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAG GTGAAGGGGGGACAGCTCCAGGTGAAGGGGGGCAGCTCCAGGTAAAGGGG GGGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0011 a0002c0009t0011	a0002c0009t0011g0301 a0002c0009t0011g0301	1	322	0.0031	-403	c.201 others(19): Show c.201-11494_201-11092del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RASA3_chr13_113972783_114137623	114008287	CGTGGGGA others(396): Show CGTGGGGAGGAGCAGAGCCCTGCGGTCTGGATGTTCCCCACACACCGCGT TCCTGACCGTGGGGAGGAGCAGAGCCCTGCGGTCTGGACGTTCCCCACGC ACCGCGTTCCTGACTGTGGGGAGGAGCAGAGCCCTGCGGTCTGGACGTTC CCCACGCACCGCGTTCCTGACTGTGGGGAGGAGCAGAGCCCTGGGGCCTG GAGGTTGCCCCCACGCACCGCGTTCCTGACTGTGGGGAGGAGCAGAGCCC TGGGGCCTGGATATTCCCCCCACGCACCGCGTTCCTGACTGTGGGGAGGA GCAGAGCCCTGCGGTCTGGACGTTCCCCACGCACCGCGTTCCTGACTGTG GGGAGGAGCAGAGCCCTGCGGTCTGGACGTTCCCCACGCACCGCGTTCCT GACT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	67	0.0149	-403	c.166 others(17): Show c.1668+697_1669-682del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	17/23			chr13	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(396): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18991.hp1 HG01975.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0090 a0001c0002t0001g0257 a0001c0001t0005g0090 a0001c0002t0001g0257	2	340	0.0059	-403	c.915 others(17): Show c.915+2995_915+3397del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092714	AGCGCCTA others(396): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	340	0.0029	-403	c.915 others(17): Show c.915+3088_915+3490del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093015	TAACCGCA others(396): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGA ACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAG AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	340	0.0029	-403	c.915 others(17): Show c.915+3367_915+3769del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093179	CGCGCCTA others(396): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCT ACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 NA19030.hp1 HG02109.hp2 HG02970.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0031 a0001c0001t0003g0081 a0001c0001t0004g0004 a0001c0001t0003g0031 a0001c0001t0003g0081 a0001c0001t0004g0004	3	340	0.0088	-403	c.915 others(17): Show c.915+3553_915+3955del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093210	AGCGCCTA others(396): Show AGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACC TAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18992.hp1 HG02071.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0291 a0001c0002t0002g0110 a0001c0002t0002g0291	2	340	0.0059	-403	c.915 others(17): Show c.915+3573_915+3975del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093709	GCCTACCT others(396): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACTGCAGAGCGCCTACCTGCCGCACCTAGTA ACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTG CCGCACCTAGTAACTGCAGCGCGCCTACCTCCTGCACCTAGTAACTGCAG AGTA	G G	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	340	0.0029	-403	c.915 others(17): Show c.915+4075_915+4477del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPL12_chr9_127442674_127456406	127452034	GGGTGCAC others(396): Show GGGTGCACCCGCGGGTCCCAACGTGGGGGATCCCTCCATCCGCAAAGCCA GGTCAGCCACTGCCCACCCCACCCCAGGAAATATGGGTGTGGCCCTCCCC CCGCATCTAGGCTGGACGTCGGAGAGGGAGGGACAGGCATGTGGGGCAGC CTGGAAAGAACTGATCTTCGGGGAGGGGTGGGAGAGCGATGGTGGTTGGG AGGAAGTGGGGAGGGCTGCACATCAGGAAGGGGGTGCAAGAGGGTTAGTG ATTGGGGAGCAGAAGGGTAAGTGCTGGTCATCAGGGACGGATGGGGGAGG GCTGTTTTCAAACCATTCCCCATCCTTGCAGGCAGGTGGGGTGACAAGAG GGCCTGAACTGGCTCTGCAGGCCTGGCTGCCTCCCCAGACAGCCCCGCCC CCGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	-403	c.-11 others(10): Show c.-1120_-718del	RPL12	ENSG00000197958.13	transcript	ENST00000361436.10	protein_coding		629		chr9	TogoVar
SFI1_chr22_31491536_31623588	31592005	CGACCCCC others(396): Show CGACCCCCTCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAG ACGGGGCGGCTGGCCAGGCGGAGGGCTGACCCCCCCACCTCCCTCCCAGA CAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGTTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCAGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG01993.hp1 others(5): Show HG00738.hp2 HG01891.hp1 HG01993.hp1 HG02683.hp2 HG02818.hp2 HG03139.hp2 HG03710.hp2 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0013 a0006c0008 a0006c0013	a0006c0008t0001 a0006c0013t0001 a0006c0008t0001 a0006c0013t0001	a0006c0008t0001g0016 a0006c0008t0001g0316 a0006c0008t0001g0317 others(5): Show a0006c0008t0001g0016 a0006c0008t0001g0316 a0006c0008t0001g0317 a0006c0008t0001g0318 a0006c0008t0001g0319 a0006c0008t0001g0320 a0006c0013t0001g0157 a0006c0013t0001g0158	8	322	0.0248	-403	c.154 others(19): Show c.1544+2436_1544+2838del	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31592062	CCACCTCC others(396): Show CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCAGGCGGAGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGTTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCAGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0001 a0006c0038t0001	a0006c0038t0001g0033 a0006c0038t0001g0033	1	322	0.0031	-403	c.154 others(19): Show c.1544+2501_1544+2903del	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC12A2_chr5_128078766_128194677	128140607	TAGGGGTA others(396): Show TAGGGGTAACCCCTTGATGCTGATGTTCAGTAGCTAGGCCAGTAAAGGCA GCCTCTACACCAGTGGTTGTTAAGCTCAAAGAAGTGGAACCTTCCCCCCC CAAAAAATTTCAGGCATAGACTATCAGAATACAAAGCACATGAAAGTATA GTTACTTTAGGGCTGGGGGGATTTGCAAGGCTCTATTCTCCCCCCATTCC CCAGTTGTTTCAGAGGTACCTTTATGGAAACATGGTTTTGCAAGGACTGC TCTGAATGGTAGATGAAAAAATTGAAAAACAAAGAACTGTATAGTCTGCC TAGTCATTAAAATATCCTCCCTTCTCATACTTAGTTCTGTTTATTCAATT TTTGCTGTCATGCATGTAATTTTTACCTCAATATATGATGAAATAATACT GAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG03471.hp1 others(1): Show HG01243.hp1 HG02965.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0036 a0001c0002t0014 a0001c0002t0036	a0001c0002t0014g0032 a0001c0002t0014g0033 a0001c0002t0014g0034 others(1): Show a0001c0002t0014g0032 a0001c0002t0014g0033 a0001c0002t0014g0034 a0001c0002t0036g0031	4	354	0.0113	-403	c.162 others(18): Show c.1622-1221_1622-819del	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM13_chr6_11088834_11143733	11124503	GGGTAGGT others(396): Show GGGTAGGTGGGGAAATACCTAGCAGTGGGATTGCTGGATCATATGGTGGT TTTATTTTTAGATTTTTAAAGGAACCTCCGAATTGTTCTCCATAGTGGTG TTACTAATTTATGTACACAGTGTTTCCACCAGCACTGTACAAGGGTTCCT TTTTTCTCCACATTCTCACCAGCAATCGTTATTGTCTATCCTTTGGATAA AAGCCATTTTAACTGGGTGAGATGATATCTCATTGTAGTTTCGTTTTGCA TTTCTCTGATGATCAGTGATGTTGAGCACCTTTTTATATACCTTCAGGTG GTTTCTTATCAGTAATGTCCTTTTCTTTCAGGTTGAAGAACTCCTTTTAT CACTTGTAGGACAGGTTTGGTGTTGACTAAATCCCCTAGCGGGAAAGTCT TGAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	400	0.0025	-403	c.77- others(15): Show c.77-9899_77-9497del	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1			chr6	TogoVar
SMYD3_chr1_245744347_246512279	246251471	GGTGCCTC others(396): Show GGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGCGC CCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCG CGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTT TAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACAC TGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGG TGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCC GGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCG GACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTA GTAC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp2 HG03225.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0114 a0002c0003t0002g0150 a0002c0003t0002g0114 a0002c0003t0002g0150	2	150	0.0133	-403	c.531 others(19): Show c.531+75327_531+75729del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
STK32B_chr4_5046480_5505989	5317047	ATATAATA others(396): Show ATATAATATATATGATATAATATATTATATATTATATATATAATATATAT GATATAATATATAATATATATAATACATTATAATATATAATATATATGTA TAATATACATATTACATATATATAACATATAATATATATATATAACATAT ATATATTATATATATAACATATATATATTATATATAACATATATATATTA TATATAACATATAACATATATATAATATATAACATATAACATATATATAA TATATAATATATAACATATGTATAATATATATTACATATATAATACATAT ATATAATATATATAATGTATATGTATTATATATATTACATATATATAATA TATATAATGTATATGTATTATATATAATACATATATATTACATATATACA TAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	170	0.0059	-403	c.261 others(19): Show c.261-14172_261-13770del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11			chr4	TogoVar
TPO_chr2_1408463_1548673	1534818	GTGTGCAA others(396): Show GTGTGCAACCTCAAGTCCCCCACTGTGTGTAACCCCCCCAAATCCCACCA CTGTGCACAACCTCCTCTAATCTGTTCACTGTGTGCAACCTCCCCAAATC CCTCCCCAATGTGTGCAGTCTCCTCAAATCCTCCGCCACTGTGAGCAACC TCCTCAAATCCCCCCAGTGTGTGCAATTTCCCTAAATCGCCGCAAGTGTG TACAACCTCCCCAAATCCCCCCCACTGTGTGCAACCTCCCCAAATCTCCC CCACTCTGTGCACCTTCCCCAAATCTACCTAACTCTGTGTAACCTCCTCA CATCCCCCCACTCTGTGCAACCTCCCCAAATCCCCCCCCCCCCCATTGTG GGCAACCACACCAAATCCCGCCACTTGTGCAACCTCATCAATTTCCCCCC ATTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG02080.hp2 others(12): Show HG00408.hp2 HG00423.hp1 HG02080.hp2 HG03654.hp2 HG04204.hp2 NA18612.hp2 NA18985.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0019	a0001c0001 a0002c0015 a0003c0003 others(3): Show a0001c0001 a0002c0015 a0003c0003 a0003c0006 a0004c0005 a0019c0024	a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 others(5): Show a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0004c0005t0005 a0019c0024t0005	a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 others(11): Show a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0004c0005t0005g0071 a0019c0024t0005g0009	15	130	0.1154	-403	c.261 others(19): Show c.2619-5764_2619-5362del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291259	TCCGTGTC others(396): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCC CTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGT GTCC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	284	0.0035	-403	c.121 others(18): Show c.1214+837_1214+1239del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
WDR81_chr17_1719704_1743585	1739201	AGCCGGAC others(396): Show AGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTG GCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG02559.hp1 HG02717.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0008 a0008c0024t0008	a0008c0024t0008g0023 a0008c0024t0008g0023	2	431	0.0046	-403	c.15 others(11): Show c.1517_*1919del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		617		chr17	TogoVar
ABCC2_chr10_99777640_99857594	99838423	GGGGGGCC others(395): Show GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGAGCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCG GGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGG GCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0001 a0020c0024t0001	a0020c0024t0001g0013 a0020c0024t0001g0013	1	336	0.0030	-402	c.361 others(19): Show c.3614+2139_3614+2540del	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABR_chr17_998519_1184981	1131492	CCTTTGCA others(395): Show CCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCTCTTT GCACACCAAATGCAGTGCCTGCCACGCACACAGCTCCCCCCTTTGCACAC CAAATGCAGTGCCTGACACGCACACAGCTCCCCCCTTTGCACACCAAATG CAGTGCCTGACACGCACACAGCTCCCCCTTTGCACACCAAATGCAGTGCC TGCCACGCGCACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCAC GCGCAGAGCTCCCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGC ACAGCTCCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGC TCCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCC CCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19010.hp1 HG00408.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0147 a0001c0001t0013g0048 a0001c0001t0006g0147 a0001c0001t0013g0048	2	337	0.0059	-402	c.62- others(15): Show c.62-6527_62-6126del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADGRD1_chr12_130948907_131146469	131067502	ATATGTCT others(395): Show ATATGTCTGATCGCTGTGCCCCTGATCCTTCTTCTGAGCAGGGGCTGCCC TCTGCCTCCTATATGTCTGATCGCTGTGCCCCTGATCCTTCTTCTGCCTC CTATATGTCTGATCGCTGTGCCCCTGATCCTTCTTCTGAGCAGGGGCTGC CCTCTGCCTCCTATATGTCTGATCGCTGTGCCCCTGATCCTTCTTCTGAG CAGGGGCTGCCCTCTGCCTCCTGTATTTCTGATCGCTGTGCCCCTGATCC TTCTTCTGAGCAGGGGCTGCCCTCTACCTTCTGTATGTCTGATCGCTGTG CCCCTGATCCTTCTTCTGAGCAGGGGCTGCCCTCTGCCTCCTGTATGTCT GATCGCTGTGCCCCTGATCCTTCTTCTGAGCAGGGGCTGCCCTCTGCCTC CTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0132 a0001c0007t0018g0132	1	242	0.0041	-402	c.147 others(19): Show c.1474-9239_1474-8838del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AFDN_chr6_167821911_167977023	167940881	ATGGACAG others(395): Show ATGGACAGACACAGAGAGATGTAGGGGTGAGGGTGGAAACCATCCACAGG AGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCA TCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGT GGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGG ATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGGGAT GTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACAC AGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGG ACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAG ATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02280.hp2 others(14): Show HG01884.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG06807.hp1 NA19030.hp1 NA20129.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0006 a0002c0029 others(1): Show a0001c0001 a0001c0006 a0002c0029 a0009c0019	a0001c0001t0003 a0001c0006t0001 a0001c0006t0017 others(2): Show a0001c0001t0003 a0001c0006t0001 a0001c0006t0017 a0002c0029t0001 a0009c0019t0003	a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0006t0001g0003 others(13): Show a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0006t0001g0003 a0001c0006t0001g0311 a0001c0006t0001g0312 a0001c0006t0001g0314 a0001c0006t0001g0315 a0001c0006t0001g0316 a0001c0006t0001g0317 a0001c0006t0001g0318 a0001c0006t0001g0319 a0001c0006t0001g0320 a0001c0006t0001g0321 a0001c0006t0017g0322 a0002c0029t0001g0323 a0009c0019t0003g0281	17	326	0.0522	-402	c.310 others(19): Show c.3100-2232_3100-1831del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167940993	ATGTGTGG others(395): Show ATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCA CAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAA ACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAG GGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAG GGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGAC ACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGT GGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAG AGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp1 others(39): Show HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00735.hp2 HG01069.hp2 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02293.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03453.hp1 HG03688.hp1 NA18612.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18953.hp1 NA18971.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp2 NA19005.hp1 NA19058.hp2 NA19060.hp1 NA19075.hp1 NA19083.hp2 NA19085.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0002c0028 a0003c0009 others(1): Show a0001c0002 a0002c0028 a0003c0009 a0006c0025	a0001c0002t0001 a0001c0002t0005 a0002c0028t0001 others(3): Show a0001c0002t0001 a0001c0002t0005 a0002c0028t0001 a0003c0009t0001 a0003c0009t0009 a0006c0025t0001	a0001c0002t0001g0005 a0001c0002t0001g0031 a0001c0002t0001g0106 others(39): Show a0001c0002t0001g0005 a0001c0002t0001g0031 a0001c0002t0001g0106 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0126 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0140 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0229 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0005g0156 a0002c0028t0001g0159 a0003c0009t0001g0208 a0003c0009t0009g0168 a0006c0025t0001g0158	42	326	0.1288	-402	c.310 others(19): Show c.3100-2020_3100-1619del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167941109	ATGTGGAC others(395): Show ATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACA GGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAAC CATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGG GTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGG GTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGG ATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGAC ACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGT GGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAG AGG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0074 a0001c0005t0015g0074	1	326	0.0031	-402	c.310 others(19): Show c.3100-2015_3100-1614del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASMT_chrX_1610059_1648081	1611569	CCACGCGT others(395): Show CCACGCGTGTGTCTTCTTTTTGAGAAGTGTCTGTTGGCCGGGCGCGGTGG CTCACTCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACG AGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCT ACTGAAAATACAAAAAATTAGCTGGCTGTGGTGGCTGGTGCCTGTAGTTC CAGCTACTCTGGAGGCTGAGGCAGGAGAATGACACGAACCCGGGAGGCGG AGCTTGCAGTGAGCTGAGATCGAGCCACTGCACTCCAGCCTGGTGACAGA GCGAGACTCCATCTCAAAAAAAAAAAAAAAAAATTACCCAAAATTACCCA GTCTCAGGTATGTCTTATCAGCAGCATGAAAATGGACTAATATGCTTGTC AGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(54): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01256.hp1 HG01496.hp2 HG01516.hp2 HG02080.hp2 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02559.hp1 HG02602.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18950.hp1 NA18956.hp1 NA18968.hp1 NA18968.hp2 NA18974.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA19011.hp1 NA19064.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0004c0004t0001 a0004c0004t0004	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0040 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0118 a0001c0001t0001g0158 a0001c0001t0001g0209 a0001c0001t0002g0120 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0164 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0218 a0001c0003t0001g0022 a0001c0003t0001g0059 a0001c0003t0001g0094 a0001c0003t0001g0107 a0001c0003t0001g0113 a0001c0003t0001g0115 a0001c0003t0002g0133 a0001c0003t0002g0155 a0002c0002t0001g0026 a0002c0002t0001g0044 a0002c0002t0001g0054 a0002c0002t0001g0066 a0002c0002t0001g0099 a0002c0002t0001g0189 a0002c0002t0001g0210 a0002c0002t0002g0131 a0002c0002t0002g0156 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0186 a0002c0002t0002g0188 a0002c0002t0002g0199 a0002c0002t0002g0213 a0002c0006t0001g0104 a0004c0004t0001g0169 a0004c0004t0004g0148	57	223	0.2556	-402	c.-36 others(11): Show c.-3630_-3229del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		3489		chrX	TogoVar

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