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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Select column to sort.

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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
DYSF_chr2_71461699_71691763	71618604	G G	GGTGTGTG others(566): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT TGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGT GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTG TGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGTGTG TGTGTTTGTGTGGGGTAGAGTTGT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	208	0.0048	573	c.446 others(592): Show c.4465-1940_4465-1939insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGG TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGG TAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGG TGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG TGTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EXD3_chr9_137301896_137428162	137328463	A A	ACTCATAT others(566): Show ACTCATATGATGAGTAAAAACAACTAATATACTCCCACATGATGAGTAAA AACAACTAATATACACCCATATGATGAGTAAAAACAACTAATATACACCC ACATGATGAGTAAAAACAACGAATAAACACCCATATGATGAGTAAAAACA ACTAATATACACCCATATGATGAGTAAAAACAATGAATATACAGACACAT GGTGAGTAAAACAACTAATATACACCCATATGATGAGTAAAAACAACTAA TAAACACCCACATGATGAGTAAAAACAACGAATAAACAACCACATGATGA GTAAAAACAACTAATAAACACCCATATGATGAGTAAAAACAACGAATAAA CACCCATATGATGAGTAAAACAACTAATATACTCCCATATGATGAGTAAA AACATCGAATAAACACCCATATGATGAGTAAAACAACTAATATACTCCCA TATGATGAGTAAAAACAACTAATATACACCTACATGATGAGTAAAAACAA TGAACAAACACCCACATGATGAGTAAAAACAACTAATATAAACCCACATC ATGAGTAAAAACAACTAATATACT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01256.hp2 others(8): Show HG00280.hp1 HG00323.hp2 HG01256.hp2 HG01258.hp2 HG02257.hp1 HG02280.hp2 HG02896.hp1 HG03098.hp1 HG03209.hp2 NA18522.hp2 NA19043.hp1	a0005 a0006 a0007 others(6): Show a0005 a0006 a0007 a0008 a0014 a0015 a0021 a0025 a0028	a0005c0005 a0006c0004 a0007c0010 others(6): Show a0005c0005 a0006c0004 a0007c0010 a0008c0020 a0014c0029 a0015c0028 a0021c0023 a0025c0024 a0028c0034	a0005c0005t0001 a0006c0004t0001 a0007c0010t0001 others(6): Show a0005c0005t0001 a0006c0004t0001 a0007c0010t0001 a0008c0020t0001 a0014c0029t0001 a0015c0028t0001 a0021c0023t0001 a0025c0024t0001 a0028c0034t0001	a0005c0005t0001g0018 a0005c0005t0001g0066 a0006c0004t0001g0058 others(8): Show a0005c0005t0001g0018 a0005c0005t0001g0066 a0006c0004t0001g0058 a0007c0010t0001g0021 a0007c0010t0001g0079 a0008c0020t0001g0005 a0014c0029t0001g0024 a0015c0028t0001g0080 a0021c0023t0001g0004 a0025c0024t0001g0049 a0028c0034t0001g0067	11	82	0.1342	573	c.199 others(592): Show c.1999-4321_1999-4320insAGTATATTAGTTGTTTTTACTCATGA TGTGGGTTTATATTAGTTGTTTTTACTCATCATGTGGGTGTTTGTTCATT GTTTTTACTCATCATGTAGGTGTATATTAGTTGTTTTTACTCATCATATG GGAGTATATTAGTTGTTTTACTCATCATATGGGTGTTTATTCGATGTTTT TACTCATCATATGGGAGTATATTAGTTGTTTTACTCATCATATGGGTGTT TATTCGTTGTTTTTACTCATCATATGGGTGTTTATTAGTTGTTTTTACTC ATCATGTGGTTGTTTATTCGTTGTTTTTACTCATCATGTGGGTGTTTATT AGTTGTTTTTACTCATCATATGGGTGTATATTAGTTGTTTTACTCACCAT GTGTCTGTATATTCATTGTTTTTACTCATCATATGGGTGTATATTAGTTG TTTTTACTCATCATATGGGTGTTTATTCGTTGTTTTTACTCATCATGTGG GTGTATATTAGTTGTTTTTACTCATCATATGGGTGTATATTAGTTGTTTT TACTCATCATGTGGGAGTATATTAGTTGTTTTTACTCATCATATGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(566): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCCTCCTGCTTGCCTCCT CCTCTCTTCCTCCTCTCCTCGTCTTCTGCTCCTTTCCTCCTCCTCCTTCT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCC GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCT CTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCTTCT TCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCCTCT CCTCTTCCTCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0086 a0003c0003t0009g0086	1	234	0.0043	573	c.489 others(592): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCTCC TCCTCCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCCTCGTCTTCTGCTCC TTTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCT TGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCC TCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTC CTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTC CTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCCT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FHIT_chr3_59742277_61256452	60861213	T T	TATATATC others(566): Show TATATATCATATATGATATATATGATATATATCATATATGATATATATGA TATATATCATATATGATATATATCATATATGATATATATGATATATATCA TATATGATATATATCATATATGATATATATCATATATATATCATATATGA TATATATGATATATATCATATATGATATATATCATATATGATATATATCA TATATGATATATATCATATCATATATGATATATATCATATATATCATATC ATATATGATATATATGATATATATGATATATCATATCATATATGATATAT ATGATATATATGATATATCATATCATATCATATATGATATATATGATATA TATGATATATCATATATATCATATATGATATATATGATATATATGATATA TCATATCATATCATATATGATATATATGATATATATGATATATCATATAT ATCATATATGATATATATGATATATATGATATATCATATCATATCATATA TGATATATATGATATATATGATATATCATATCATATCATATATGATATAT ATGATATATATGATATATCATATC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	46	0.0217	573	c.-11 others(594): Show c.-110-39203_-110-39202insGATATGATATATCATATATATCAT ATATATCATATATGATATGATATGATATATCATATATATCATATATATCA TATATGATATGATATGATATATCATATATATCATATATATCATATATGAT ATATATGATATATCATATATATCATATATATCATATATGATATGATATGA TATATCATATATATCATATATATCATATATGATATATATGATATATCATA TATATCATATATATCATATATGATATGATATGATATATCATATATATCAT ATATATCATATATGATATGATATATCATATATATCATATATATCATATAT GATATGATATATATGATATATATCATATATGATATGATATATATCATATA TGATATATATCATATATGATATATATCATATATGATATATATCATATATA TCATATATGATATATATATGATATATATCATATATGATATATATCATATA TGATATATATCATATATATCATATATGATATATATCATATATGATATATA TCATATATATCATATATGATATATATCATATATATCATATATGATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
GALR1_chr18_77244848_77282900	77253007	C C	CCACCACC others(566): Show CCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCACCATCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCA TCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0271 a0001c0001t0010g0271	1	366	0.0027	573	c.666 others(590): Show c.666+1804_666+1805insTCACCACCATCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ATCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(566): Show TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCACCACCACCATCACCACCTCTACCACCACCATCACCACCTCTA CCACCACCACCTCTACCACCACCATCACTACTACCACCACCACCATCACC ACCTCTACCACCATCGCTACCATCACCACCACCACCACTATCACCGCCAC CACCATCGCTACCATCACCACCACCACCACTACCACCTCTACCACCTCTA CCACCACGACCACCACTACCACCTCTACCACCACCATCATCACCACCACC ACTACCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTAC CACCACCATCACCACCACTACCACTACCTCTACCTCCACTGCTACCATCA CCACCACCACTACCACCTCTACCACCACCATCACCACCACCACTACCACC TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCACCACCACCATCTCTACCACCACCATCACTACTACCACCACCA CCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0080 a0001c0028t0080	a0001c0028t0080g0063 a0001c0028t0080g0063	1	134	0.0075	573	c.520 others(594): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGATGGTGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGG TGATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGTG GTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGT GGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGG TAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGATGGTAGCGATGGTG GTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCGATGGTGGTAGAGGT GGTGATGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGG TAGAGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(566): Show TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATAT ATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATA TGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATATA TATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTAT GGAATATATATGTATGGAATATATATGTATGGAATATATATATGGAATAT ATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATG GAATATATATATGGAATATATATGTATGGAATATACATATGGAATATATA TGTTTGGAATATATATATATGGAATATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATGGAATATATGTATGGAATATATAT ATATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAAT ATATATATGGAATATATGTATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0204	1	323	0.0031	573	c.-19 others(584): Show c.-1920_-1919insATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TACGTATGGAATATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAAT ATATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATATATATGGAATATATATATGGAATATATATGTATGGAATATA CATATGGAATATATATGTTTGGAATATATATATATGGAATATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATGGAATATAT GTATGGAATATATATATATGGAATATATGTATGGAATATATATATATGGA ATATATGTATGGAATATATATATGGAATATATGTATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(566): Show TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATAT ATACGTATGGAATATATATATATGGAATATATACGTATGGAATATATATA TATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATA TATATATATGGAATATATATGTATGGAATATATATATGGAATATATATGT ATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATAT ATATGTATGGAATATATATATGGAATATATATATGGAATATATATGTATG GAATATACATATGGAATATATATGTTTGGAATATATACATATGGAATATA TATGTTTGGAATATATATATATGGAATATATGTATGGAATATATATATGG AATATATGTATGGAATATATATATATGGAATATATGTATGGAATATATAT ATATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAAT ATATATATGGAATATATGTATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	573	c.-19 others(584): Show c.-1920_-1919insATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATATACGTATGGAATATATATATATGGAATATATACG TATGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAA TATACGTATGGAATATATATATATGGAATATATATGTATGGAATATATAT ATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAAT ATATATATGGAATATATATGTATGGAATATATATATGGAATATATATATG GAATATATATGTATGGAATATACATATGGAATATATATGTTTGGAATATA TACATATGGAATATATATGTTTGGAATATATATATATGGAATATATGTAT GGAATATATATATGGAATATATGTATGGAATATATATATATGGAATATAT GTATGGAATATATATATATGGAATATATGTATGGAATATATATATATGGA ATATATGTATGGAATATATATATGGAATATATGTATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(566): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp2 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0071 a0001c0003t0002g0189 a0001c0001t0002g0071 a0001c0003t0002g0189	2	204	0.0098	573	c.978 others(590): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAA ACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TCCCCTCC others(566): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCC CCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCC TCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCT GCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCC CCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCC TCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0162 a0001c0001t0023g0162	1	276	0.0036	573	c.65 others(584): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGG GTACAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGG GCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGG AGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGG GGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGG GAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAG GAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGG GGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGG AGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
LOC128462377_chr16_89312046_89423292	89341900	A A	ACCCACAG others(566): Show ACCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAA CAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCC ACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGC CCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATG GCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGT GCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGC ACCTCCTCCACGAACAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTC CACCCACAGCGGCCACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCC ACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGC AGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAG CCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGCCCAC GGCGGGAGTGCTGCACCTCCACTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0026 a0001c0001t0000g0026	1	366	0.0027	573	c.10- others(590): Show c.10-24826_10-24825insCAGTGGAGGTGCAGCACTCCCGCCGTGG GCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGT GGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTG TTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGC AGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGG TGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAG CACTCCCGCCGTGGGCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTC CCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATG GGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCG TGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCC GCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCG TGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGG	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
MAP3K15_chrX_19355059_19520508	19478057	A A	AGAGAGGG others(566): Show AGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGG GGAGAGGGGGAGGGGGAGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGAG AGGGGGAGAGGGGAGAGGGGGAGAGGGGGGGAGGGGGGGAGGGGGAGAGG GGGGGAGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGG GGGGAGGGGGGAGAGGGGGGAGGGGGGGGAGGGGGGGAGGGGGAGAGGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGAGAGGGGGGAGAGG GGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGG GAGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGAGGGGGAGAGG GGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGAGAGGG GGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGAGGGGAG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0135 a0002c0002t0003g0135	1	163	0.0061	573	c.525 others(590): Show c.525+8424_525+8425insCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCC CCTCTCCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCT CTCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCTC TCCCCCTCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCT CCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCTC TCCCCCCTCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCC TCTCCCCCTCCCCCCCTCCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCT CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCTCCCCCCCTC TCCCCCTCCCCCCCTCCCCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCC CCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(566): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATATATAATTTAATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACTT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAA TTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	288	0.0035	573	c.-32 others(584): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATTAAATTATATATTATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATAATATGTTTAATATAATT ATATATAATATAATTATATTATATATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(566): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACAT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAA TTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0026 a0007c0009t0001g0026	1	288	0.0035	573	c.-32 others(584): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATAATATGTTTAATATAATT ATATATAATATAATTATATTATATATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(566): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACTT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAA TTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	573	c.-32 others(584): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATAATATGTTTAATATAATT ATATATAATATAATTATATTATATATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(566): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACTT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAA TTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG02155.hp1 others(5): Show HG01099.hp2 HG01192.hp2 HG02155.hp1 HG04184.hp2 NA18998.hp2 NA19004.hp1 NA19058.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0033	8	288	0.0278	573	c.-32 others(584): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATAATATGTTTAATATAATT ATATATAATATAATTATATTATATATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(566): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT CTATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACTT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAA TTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	573	c.-32 others(584): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATAATATGTTTAATATAATT ATATATAATATAATTATATTATATATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(566): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT CTATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACTT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAA TTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18963.hp1 NA18960.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	573	c.-32 others(584): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATAATATGTTTAATATAATT ATATATAATATAATTATATTATATATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(566): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATATAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACTT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAA TTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	573	c.-32 others(584): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATATATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATATAATATAATTATATATTATATAATATGTTTAATATAATT ATATATAATATAATTATATTATATATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(566): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACTT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAA TTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	573	c.-32 others(584): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATATAATATAATTATATATTATATAATATGTTTAATATAATT ATATATAATATAATTATATTATATATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(566): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATCTATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT CTATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACTT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAA TTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	288	0.0035	573	c.-32 others(584): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATATAATATAATTATAGATTATATAATATGTTTAATATAATT ATATATAATATAATTATATTATATATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MOB3B_chr9_27320209_27534814	27342928	T T	TCGTCTGG others(566): Show TCGTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGT GAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTC TCTCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGTGCCTCTGCCCAGCC GCGACCCCATCTGGGAACCGACTGTCTCTGCCCGACCGCCAACCCATCTG GGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGC CCCTTCACCCGGCAGCCGCCCCGTCTGCTAAGTGAGGAGCCCCTCCGCCC AGCAGCCGCCCCGTCCAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCG CCCCATCCAGGAGGGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGACAGCCGCCGCCCAGCCAGCCGCCCCTTC TGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGCGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTG GGGAGCGCCTCTTCCCTGCCGCCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0184 a0001c0001t0023g0184	1	320	0.0031	573	c.622 others(592): Show c.622-12313_622-12312insTGGCGGCAGGGAAGAGGCGCTCCCCA CCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCAGA AGGGGCGGCTGGCTGGGCGGCGGCTGTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGGCG GCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCTGG GCGGAGGGGCTCCTCACTTAGCAGACGGGGCGGCTGCCGGGTGAAGGGGC TCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCA GATGGGTTGGCGGTCGGGCAGAGACAGTCGGTTCCCAGATGGGGTCGCGG CTGGGCAGAGGCACTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGA CACTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCAC TTCCCAGACTGGGTGGCCGGTCAGAGGGGCTCCTCACATCCCAGACG	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27342928	T T	TCGTCTGG others(566): Show TCGTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGT GAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTC TCTCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGTGCCTCTGCCCAGCC GCGACCCCATCTGGGAACCGACTGTCTCTGCCCGACCGCCAACCCATCTG GGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGC CCCTTCACCCGGCAGCCGCCCCGTCTGCTAAGTGAGGAGCCCCTCCGCCC AGCAGCCGCCCCGTCCAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCG CCCCATCCAGGAGGGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGACAGCCGCCGCCCAGCCAGCCGCCCCTTC TGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGCGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTG GGGGGCGCCTCTTCCCTGCCGCCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp2 HG02717.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0166 a0001c0001t0179 a0001c0001t0166 a0001c0001t0179	a0001c0001t0166g0152 a0001c0001t0179g0187 a0001c0001t0166g0152 a0001c0001t0179g0187	2	320	0.0063	573	c.622 others(592): Show c.622-12313_622-12312insTGGCGGCAGGGAAGAGGCGCCCCCCA CCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCAGA AGGGGCGGCTGGCTGGGCGGCGGCTGTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGGCG GCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCTGG GCGGAGGGGCTCCTCACTTAGCAGACGGGGCGGCTGCCGGGTGAAGGGGC TCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCA GATGGGTTGGCGGTCGGGCAGAGACAGTCGGTTCCCAGATGGGGTCGCGG CTGGGCAGAGGCACTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGA CACTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCAC TTCCCAGACTGGGTGGCCGGTCAGAGGGGCTCCTCACATCCCAGACG	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MTERF3_chr8_96234402_96266610	96250634	A A	AGAAGAAG others(566): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGCAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGA GGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAG AAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAG GAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGA AGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGG AAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAA GAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGA AGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAG AGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAA GAAGAGGAAGAAGAGGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	294	0.0034	573	c.677 others(588): Show c.677+271_677+272insCTCTTCTTCCTCTTCTTCCTCTTCTTCCTC TTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTT CCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCT TCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTC CTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTT CTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCC TCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTC TTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCT CTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCT TCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTGCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYDGF_chr19_4652545_4675342	4663531	C C	CACAGCCT others(566): Show CACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCTACAGCCTCCA ACCTGTGCACTCTCCACCCACCCCATCCTCATTCTACACAGCCTCCAATC TATCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCCTC CCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCAC CCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCACC CCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCT CATTCTACACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTC TACACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAC AGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCT CCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCT ACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCT CCCCACCCACCCCACCCTCATTCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0071 a0002c0003t0001g0071	1	410	0.0024	573	c.287 others(590): Show c.287+1344_287+1345insAGAATGAGGGTGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGAT TGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGC TGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGT AGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAAT GAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGA TGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTG GGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGG GGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGG GTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGATAGATT GGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGTGCACAGGTTGGA GGCTGTAGAATGAGGATGGGGTGGGGAGGGTAGATTGGAGGCTGT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYO1B_chr2_191240404_191430386	191398221	T T	TGGGGCGG others(566): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCTGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTCCGGACG GGGCGGCTGGCCGGGCGGGGTGCTGACCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGTGCTG ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCC GATCCCCCCACCTCCCTCCTGGAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG03225.hp2 HG02723.hp2 HG02896.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0006g0158 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0006g0158	3	170	0.0177	573	c.229 others(592): Show c.2295+1741_2295+1742insGGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCTGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTC CGGACGGGGCGGCTGGCCGGGCGGGGTGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGG GTGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCCGATCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(566): Show CTGTATACATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT GTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATGTA TACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATA CTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACTGTGTATATATACACA GTATGTATACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTAT ACTGTATATATACACAATACAGTA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0100 a0002c0006t0008g0100	1	362	0.0028	573	c.-75 others(592): Show c.-75+17711_-75+17712insTACTGTATTGTGTATATATACAGTAT ACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATA TACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAG TGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATA CTGCATGCAGTATGTATACAGTATACATACTGTATGCAGTATACATACTG TGTATATATACACAGTATACATACTGTGTATATATACGGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTG TATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTA TACATACATACAGTATACATACATACAGTATACATGCTGTATACAGTATA CATGCTGTATACAGTATACATGCTGTACACAGTATACATGCTGTACACAG TATACATGCTGTACATATATACAGTATACATGCTGTACATGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(566): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTCGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0285 a0001c0011t0001g0285	1	324	0.0031	573	c.140 others(590): Show c.140+8240_140+8241insCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCC TGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCAC CCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCA CCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACC CACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(566): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GACGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGAGGGGAGGGGGAGGGGATG GGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGAAGGGAGGGGAAG GGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGA AAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGG GGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp1 HG03041.hp2 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0213 a0001c0003t0013g0214 a0001c0003t0013g0213 a0001c0003t0013g0214	2	344	0.0058	573	c.154 others(590): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC ATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCTTCTC CCTCCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCATCCTCCTCCCTCCCCCTTCTCCGTCCTCCTTCCTCCTCCCGTCTCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(566): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGAA AGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGATGGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGAGGGGAGGGGGAGGGGATG GGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGAAGGGAGGGGAAG GGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGA AAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGG GGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03486.hp1 HG02145.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0322 a0001c0003t0032g0323 a0001c0003t0032g0322 a0001c0003t0032g0323	2	344	0.0058	573	c.154 others(590): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCTTTCT CCCTCCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCATCCTCCTCCCTCCCCCTTCTCCGTCCTCCTTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCT CCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(566): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACAGACATAACACCACACACACATGCACACACACACACCACATA CACACAGAATAACACCACACACACATGCACACACACACAGAATAACACGA TACACACATGCACATACACCACAGACACACACAGAATAGTGCGACACACG TGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAACA TGCACACACAGACATACACACACCACACACGGAATAACACCACCCACACA TGCGCACACACACAGAATAACACCACACACACGCGCATACACACACCACA CACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAATA CCACCACACACACATGCACAAATGCATACAGACATACATCACACACACAA TAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	370	0.0027	573	c.19- others(590): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACAGACATAACACCACACACACATGCA CACACACACACCACATACACACAGAATAACACCACACACACATGCACACA CACACAGAATAACACGATACACACATGCACATACACCACAGACACACACA GAATAGTGCGACACACGTGCACACATAGACATACACACACCACACACACA GAATAACACCAGAAACATGCACACACAGACATACACACACCACACACGGA ATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACACG CGCATACACACACCACACACAGAGTAACACACACGCACACACACAGATAT ACACCACACACAGAATACCACCACACACACATGCACAAATGCATACAGAC ATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(566): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACAGACATAACACCACACACACATGCACATACACACACCACATA CACACAGAATAACACCACACACACATGCACACACACACAGAATAACACGA TACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACACG TGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAACA TGCACACACAGACATACACACACCACACACGGAATAACACCACCCACACA TGCGCACACACACAGAATAACACCACACACACGCGCATACACACACCACA CACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAATA CCACCACACACACATGCACACATGCATACAGACATACATCACACACACAA TAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0311 a0001c0001t0004g0311	1	370	0.0027	573	c.19- others(590): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACAGACATAACACCACACACACATGCA CATACACACACCACATACACACAGAATAACACCACACACACATGCACACA CACACAGAATAACACGATACACACATGCACATACACCACAGACACACACA GAATAGCGCGACACACGTGCACACATAGACATACACACACCACACACACA GAATAACACCAGAAACATGCACACACAGACATACACACACCACACACGGA ATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACACG CGCATACACACACCACACACAGAGTAACACACACGCACACACACAGATAT ACACCACACACAGAATACCACCACACACACATGCACACATGCATACAGAC ATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(566): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACAGACATAACACCACACACACATGCACATACACACACCACATA CACACAGAATAACACCACACACACATGCACACACACACAGAATAACACGA TACACACATGCACATACACCACAGACACACACAGAATAGTGCGACACACG TGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAACA TGCACACACAGACATACACACACCACACACGGAATAACACCACCCACACA TGCGCACACACACAGAATAACACCACACACACGCGCATACACACACCACA CACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAATA CCACCACACACACATGCACAAATGCATACAGACATACATCACACACACAA TAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(141): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19058.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0011t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(135): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0108 a0001c0002t0001g0119 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0137 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0197 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0218 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0252 a0001c0002t0001g0276 a0001c0002t0001g0303 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0321 a0001c0002t0001g0334 a0001c0002t0001g0346 a0001c0002t0001g0358 a0001c0004t0001g0008 a0001c0004t0001g0057 a0001c0004t0001g0109 a0001c0004t0001g0139 a0001c0004t0001g0141 a0001c0004t0001g0155 a0001c0004t0001g0202 a0001c0004t0001g0209 a0001c0004t0001g0245 a0001c0004t0001g0247 a0001c0004t0001g0248 a0001c0004t0001g0257 a0001c0004t0001g0273 a0001c0004t0001g0292 a0001c0004t0001g0309 a0001c0004t0001g0322 a0001c0004t0001g0333 a0001c0004t0001g0357 a0001c0007t0001g0054 a0001c0011t0001g0293 a0002c0003t0001g0006 a0002c0003t0001g0320	144	370	0.3892	573	c.19- others(590): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACAGACATAACACCACACACACATGCA CATACACACACCACATACACACAGAATAACACCACACACACATGCACACA CACACAGAATAACACGATACACACATGCACATACACCACAGACACACACA GAATAGTGCGACACACGTGCACACATAGACATACACACACCACACACACA GAATAACACCAGAAACATGCACACACAGACATACACACACCACACACGGA ATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACACG CGCATACACACACCACACACAGAGTAACACACACGCACACACACAGATAT ACACCACACACAGAATACCACCACACACACATGCACAAATGCATACAGAC ATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(566): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACAGACATAACACCACACACACATGCACATACACACACCACATA CACACAGAATAACACCACACACACATGCACACACACACAGAATAACACGA TACACACATGCACATACACCACAGACACACACAGAATAGTGTGACACACG TGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAACA TGCACACACAGACATACACACACCACACACGGAATAACACCACCCACACA TGCGCACACACACAGAATAACACCACACACACGCGCATACACACACCACA CACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAATA CCACCACACACACATGCACAAATGCATACAGACATACATCACACACACAA TAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	370	0.0027	573	c.19- others(590): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACAGACATAACACCACACACACATGCA CATACACACACCACATACACACAGAATAACACCACACACACATGCACACA CACACAGAATAACACGATACACACATGCACATACACCACAGACACACACA GAATAGTGTGACACACGTGCACACATAGACATACACACACCACACACACA GAATAACACCAGAAACATGCACACACAGACATACACACACCACACACGGA ATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACACG CGCATACACACACCACACACAGAGTAACACACACGCACACACACAGATAT ACACCACACACAGAATACCACCACACACACATGCACAAATGCATACAGAC ATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(566): Show ATAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0296 a0001c0003t0002g0296	1	378	0.0027	573	c.489 others(590): Show c.489+2870_489+2871insATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATAAAATATATAGTTATGTAACTATATAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	841547	C C	CGGTGAGC others(566): Show CGGTGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGCAGGT CCACCCTGACCACGGCGCATCTCACGCCGGTGAGCAGGTCCACCCTGACC ACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCTCCCG ACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGGAGCAT CTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACGGGCG AGCAGGTCCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCTCC CGACCACGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGC ATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGG CGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCGACCACAGAGCATCTCACACG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0080 a0001c0006t0005g0080	1	242	0.0041	573	c.361 others(592): Show c.361-15470_361-15469insCGTGTGAGATGCTCTGTGGTCGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCC GGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGC TCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGG AGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCG CCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCG GGAGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGA GATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCGTGG TCAGGGTGGACCTGCTCACCGGCGTGAGATGCGCCGTGGTCAGGGTGGAC CTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCACC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(566): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACAACGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA CACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAG CACATGTGCACACATGCACATACACACTGGCACACACGTACACACACATG CACACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACA CACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	350	0.0029	573	c.-25 others(584): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACAACGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACACACATGCATACAT GAGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACAC ATGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACAC ACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACCGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCC others(566): Show ACCCCCCCACCTCCCCACCCCACCCCTACTCCCATCCCCCCACCTCCCCA CTCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCAACTCCC AACCCCTCACCTCCACCCACACCCATCTCTACTCCCATCCCCCCCACCTC CCACTCCCACCCCTACTCCCCCAACCCCTCACCTCCACCAACCCTACCCC TACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCCATTCCCCCAC CTCCCACTCCCACCCCTACTCCCAGTCCCCCCACCTCCCACCCCTCATCC CTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCAC CTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCC CTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCC CACCCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCA ACCCCCCACCTCCCACCCCCACCCCTACTCCATCCCCCCACCTCCCCTTT CCCACCCCTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	354	0.0028	573	c.65 others(584): Show c.6528_*6529insCCCCCCCACCTCCCCACCCCACCCCTACTCCCAT CCCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCC CCCACCCCAACTCCCAACCCCTCACCTCCACCCACACCCATCTCTACTCC CATCCCCCCCACCTCCCACTCCCACCCCTACTCCCCCAACCCCTCACCTC CACCAACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTAC TCCCCATTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCCACC TCCCACCCCTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCAC CTCCCACCCCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCC CTACTCCCATCCCCCCACCCCCTACTCCCAACCCCTCACCTGCACCACAC CCACCCCTACTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCATCC CCCCACCTCCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCC others(566): Show ACCCCCCCACCTCCCCACCCCACCCCTACTCCCATCCCCCCACCTCCCCA CTCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCAACTCCC AACCCCTCACCTCCACCCACACCCATCTCTACTCCCATCCCCCCCACCTC CCACTCCCACCCCTACTCCCCCAACCCCTCACCTCCACCAACCCTACCCC TACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCCATTCCCCCAC CTCCCACTCCCACCCCTACTCCCAGTCCCCCCACCTCCCACCCCTCATCC CTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCAC CTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCC CTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCC CACCCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCA ACCCCCCACCTCCCACCCCCACCCCTACTCCATCCCCCCACCTCCCCTTT CCCACCCCTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	573	c.32 others(582): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGGG TGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGGTG GGAGGTGGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGG GGAGTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTG GTGGAGGTGAGGGGTTGGGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGG ATGGGAGTAGAGATGGGTGTGGGTGGAGGTGAGGGGTTGGGAGTTGGGGT GGGGGAGATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGG GGGATGGGAGTAGGGGTGGGGTGGGGAGGTGGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
SARDH_chr9_133658560_133743352	133669235	T T	TCCCTCAC others(566): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTC CCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCTCCCTCACCC TCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTC CATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCC TCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCT CTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTC ACCTTCCCTCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTA CCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCAC CTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0135 a0003c0003t0003g0197 a0003c0003t0003g0135 a0003c0003t0003g0197	2	262	0.0076	573	c.249 others(592): Show c.2495+1348_2495+1349insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGT GAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTA AGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGGGAAGGTGA GGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAG GGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGG GAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGG AAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGA GGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGG GTGAGGGAGGATGAGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGG GAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGA GAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(566): Show GGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGT TGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGCTCGG GGGGGGTTGAGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG GGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGG TGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGTTGAG TGAGGGGGTTGGGGTGTTGGGTGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0275 a0006c0010t0007g0275	1	290	0.0035	573	c.464 others(586): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGT GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTG GGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GGTTGAGTGAGGGGGTTGGGGTGTTGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCT others(566): Show TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCG TGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	290	0.0035	573	c.166 others(590): Show c.1663-422_1663-421insTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(566): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCCTCCCC CTCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCACCCCCTCCC CATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0140 a0001c0001t0017g0140	1	150	0.0067	573	c.77- others(590): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCC CTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCACCC CCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(566): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCCTCCCC CTCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCACCCCCTCCC CATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0075 a0001c0001t0056g0075	1	158	0.0063	573	c.22+ others(590): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCC CTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCACCC CCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(566): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0002 a0002c0045t0002	a0002c0045t0002g0058 a0002c0045t0002g0058	1	256	0.0039	573	c.165 others(590): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIK3_chr11_116838402_117103428	116947170	T T	TATTATTT others(566): Show TATTATTTATATATAATATATAATATATGAATTATTATTTATATATAATA TATAATATATGAATTATTATTTATATATAATATATAATATATGAATTATT ATTTATATATAATATATAATATATGAATTATTATTTATATATAATATATA ATATATGAATTATTATTTATATATAATATATAATATATGAATTATTATTT ATATATAATATATAATATATGAATTATTATTTATATATAATATATAATAT ATGAATTATTATTTATATATAATATATAATATATGAATTATTATTTATAT ATAATATATAATATATGAATTATTATTTATATATAATATATAATATATGA ATTATTATTTATATATAATATATAATATATGAATTATTATTTATATATAA TATATAATATATGAATTATTATTTATATATAATATATAATATATGAATTA TTATTTATATATAATATATAATATATGAATTATTATTTATATATAATATA TAATATATGAATTATTATTTATATATAATATATAATATATGAATTATTAT TTATATATAATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01516.hp2 HG01517.hp2 others(9): Show HG01258.hp2 HG01516.hp2 HG01517.hp2 HG02602.hp1 HG03017.hp1 HG03239.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 NA20905.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0014 a0002c0004t0006 a0002c0004t0014	a0002c0004t0006g0017 a0002c0004t0006g0151 a0002c0004t0006g0153 others(9): Show a0002c0004t0006g0017 a0002c0004t0006g0151 a0002c0004t0006g0153 a0002c0004t0006g0154 a0002c0004t0006g0156 a0002c0004t0006g0157 a0002c0004t0006g0158 a0002c0004t0006g0159 a0002c0004t0006g0162 a0002c0004t0006g0163 a0002c0004t0006g0169 a0002c0004t0014g0168	12	366	0.0328	573	c.454 others(590): Show c.454+6873_454+6874insTTATATATAATATATTATATATAAATAA TAATTCATATATTATATATTATATATAAATAATAATTCATATATTATATA TTATATATAAATAATAATTCATATATTATATATTATATATAAATAATAAT TCATATATTATATATTATATATAAATAATAATTCATATATTATATATTAT ATATAAATAATAATTCATATATTATATATTATATATAAATAATAATTCAT ATATTATATATTATATATAAATAATAATTCATATATTATATATTATATAT AAATAATAATTCATATATTATATATTATATATAAATAATAATTCATATAT TATATATTATATATAAATAATAATTCATATATTATATATTATATATAAAT AATAATTCATATATTATATATTATATATAAATAATAATTCATATATTATA TATTATATATAAATAATAATTCATATATTATATATTATATATAAATAATA ATTCATATATTATATATTATATATAAATAATAATTCATATATTATATATT ATATATAAATAATAATTCATATATTATATATTATATATAAATAAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947173	T T	TATTTATA others(566): Show TATTTATATATAATATATAATATATGAATTATTATTTATATATAATATAT AATATATGAATTATTATTTATATATAATATATAATATATGAATTATTATT TATATATAATATATAATATATGAATTATTATTTATATATAATATATAATA TATGAATTATTATTTATATATAATATATAATATATGAATTATTATTTATA TATAATATATAATATATGAATTATTATTTATATATAATATATAATATATG AATTATTATTTATATATAATATATAATATATGAATTATTATTTATATATA ATATATAATATATGAATTATTATTTATATATAATATATAATATATGAATT ATTATTTATATATAATATATAATATATGAATTATTATTTATATATAATAT ATAATATATGAATTATTATTTATATATAATATATAATATATGAATTATTA TTTATATATAATATATAATATATGAATTATTATTTATATATAATATATAA TATATGAATTATTATTTATATATAATATATAATATATGAATTATTATTTA TATATAATATATTATATATAAATG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0165 a0002c0004t0006g0165	1	366	0.0027	573	c.454 others(590): Show c.454+6870_454+6871insCATTTATATATAATATATTATATATAAA TAATAATTCATATATTATATATTATATATAAATAATAATTCATATATTAT ATATTATATATAAATAATAATTCATATATTATATATTATATATAAATAAT AATTCATATATTATATATTATATATAAATAATAATTCATATATTATATAT TATATATAAATAATAATTCATATATTATATATTATATATAAATAATAATT CATATATTATATATTATATATAAATAATAATTCATATATTATATATTATA TATAAATAATAATTCATATATTATATATTATATATAAATAATAATTCATA TATTATATATTATATATAAATAATAATTCATATATTATATATTATATATA AATAATAATTCATATATTATATATTATATATAAATAATAATTCATATATT ATATATTATATATAAATAATAATTCATATATTATATATTATATATAAATA ATAATTCATATATTATATATTATATATAAATAATAATTCATATATTATAT ATTATATATAAATAATAATTCATATATTATATATTATATATAAAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(566): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTATATATACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATAA AATATATACATATAAAATATATATACATATGTTTTATATGTATATATACA TATAAAACATATATACATATGTTTTATATGTATATATACATATAAAACAT ATATACATATGTTTTATATGTATATATACATATAAATATATATACATATG TTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp2 HG01256.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0171 a0001c0001t0001g0172	2	300	0.0067	573	c.626 others(590): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTATATATACATATAAA ATATATATACATATGTTTTATATGTATATATACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATAAAATA TATACATATAAAATATATATACATATGTTTTATATGTATATATACATATA AAACATATATACATATGTTTTATATGTATATATACATATAAAACATATAT ACATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTT ATATGTATATATATACATAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(566): Show GAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGAGGGAGG GAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGA GGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGG GAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGA GGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGA GGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGA GGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGG GAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGA GGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp1 NA21309.hp1 HG02886.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0005 a0002c0002t0005 a0002c0002t0018 a0001c0004t0005 a0002c0002t0005 a0002c0002t0018	a0001c0004t0005g0008 a0002c0002t0005g0082 a0002c0002t0018g0105 a0001c0004t0005g0008 a0002c0002t0005g0082 a0002c0002t0018g0105	3	132	0.0227	573	c.227 others(592): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTC CCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCTTGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(566): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCC CAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0038 a0001c0001t0013g0038	1	422	0.0024	573	c.64 others(584): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCA CCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCTCCCCCCCCAG GCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar

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Search Results (Total: 10000 hits)