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
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(299): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTC CTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCT CCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCT TCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTC CTCTTCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	372	0.0027	306	c.215 others(323): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCT CTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGC TCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTC CTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCT CCTCCTGCTCCTCTTCCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(299): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTC CTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCT CCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCT TCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTC CTCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp2 others(25): Show HG00099.hp2 HG00323.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG01109.hp2 HG01257.hp2 HG01346.hp1 HG01515.hp2 HG02071.hp1 HG02135.hp1 HG02273.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG03017.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18974.hp1 NA18975.hp1 NA18986.hp1 NA19012.hp2 NA20752.hp1	a0001 a0016 a0019 a0001 a0016 a0019	a0001c0001 a0016c0024 a0019c0028 a0001c0001 a0016c0024 a0019c0028	a0001c0001t0001 a0016c0024t0001 a0019c0028t0001 a0001c0001t0001 a0016c0024t0001 a0019c0028t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0182 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0182 a0016c0024t0001g0002 a0019c0028t0001g0002	28	372	0.0753	306	c.215 others(323): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCT CTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCC TTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCT CCTCCTGCTCCTCTTCCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(299): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCC TCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTT CTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCT CCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT TCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTC CTCTTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	372	0.0054	306	c.215 others(323): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCT CTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCC TCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCT CCTCCTGCTCCTCTTCCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(299): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02738.hp1 NA18969.hp1 others(2): Show HG01258.hp2 HG02738.hp1 NA18969.hp1 NA19010.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0176 a0001c0003t0001g0301 others(2): Show a0001c0003t0001g0024 a0001c0003t0001g0176 a0001c0003t0001g0301 a0001c0003t0001g0319 a0001c0003t0001g0368	5	370	0.0135	306	c.189 others(325): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FREM1_chr9_14732152_14915428	14877435	T T	TTGTTGTT others(299): Show TTGTTGTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG03041.hp2 others(3): Show HG02615.hp1 HG02647.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 NA18522.hp2	a0006 a0031 a0039 others(3): Show a0006 a0031 a0039 a0052 a0082 a0111	a0006c0166 a0031c0175 a0039c0137 others(3): Show a0006c0166 a0031c0175 a0039c0137 a0052c0164 a0082c0172 a0111c0149	a0006c0166t0004 a0031c0175t0008 a0039c0137t0004 others(3): Show a0006c0166t0004 a0031c0175t0008 a0039c0137t0004 a0052c0164t0004 a0082c0172t0004 a0111c0149t0004	a0006c0166t0004g0202 a0031c0175t0008g0208 a0039c0137t0004g0057 others(3): Show a0006c0166t0004g0202 a0031c0175t0008g0208 a0039c0137t0004g0057 a0052c0164t0004g0091 a0082c0172t0004g0050 a0111c0149t0004g0242	6	346	0.0173	306	c.-26 others(325): Show c.-267-8192_-267-8191insCGGTGGCTCACACCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAAACAACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	1/36			chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241805253	C C	CCCCCTCA others(299): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	314	0.0032	306	c.10 others(317): Show c.1087_*1088insCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		967		chr2	TogoVar
GAP43_chr3_115618510_115726483	115698074	A A	ATTATATA others(299): Show ATTATATATAATATATAAAATATATAATATATATAATATATAAAATATAT CTTATATATAATATATAATATATATAAAATATATCTTATATATAATATAT AATATATATAAAATATATCTTATATATAATATATAATATATATAAAATAT ATCTTATATATAATATATAATATATATAAAATATATATTATATATAATAT ATAATATATATAAAATATATATTATATATAATATATAATATATATAAAAT ATATATTATATATAATATATAATATATATAAAATATATATTATATATAAT ATATAAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	352	0.0028	306	c.628 others(325): Show c.628+21464_628+21465insTTATATATAATATATAAAATATATAA TATATATAATATATAAAATATATCTTATATATAATATATAATATATATAA AATATATCTTATATATAATATATAATATATATAAAATATATCTTATATAT AATATATAATATATATAAAATATATCTTATATATAATATATAATATATAT AAAATATATATTATATATAATATATAATATATATAAAATATATATTATAT ATAATATATAATATATATAAAATATATATTATATATAATATATAATATAT ATAAAATATATATTATATATAATATATAAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAP43_chr3_115618510_115726483	115698074	A A	ATTATATA others(299): Show ATTATATATAATATATAAAATATATAATATATATAATATATAAAATATAT CTTATATATAATATATAATATATATAAAATATATCTTATATATAATATAT AATATATATAAAATATATCTTATATATAATATATAATATATATAAAATAT ATCTTATATATAATATATAATATATATAAAATATATCTTATATATAATAT ATAATATATATAAAATATATCTTATATATAATATATAATATATATAAAAT ATATATTATATATAATATATAATATATATAAAATATATATTATATATAAT ATATAAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0154 a0001c0001t0015g0154	1	352	0.0028	306	c.628 others(325): Show c.628+21464_628+21465insTTATATATAATATATAAAATATATAA TATATATAATATATAAAATATATCTTATATATAATATATAATATATATAA AATATATCTTATATATAATATATAATATATATAAAATATATCTTATATAT AATATATAATATATATAAAATATATCTTATATATAATATATAATATATAT AAAATATATCTTATATATAATATATAATATATATAAAATATATCTTATAT ATAATATATAATATATATAAAATATATATTATATATAATATATAATATAT ATAAAATATATATTATATATAATATATAAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAP43_chr3_115618510_115726483	115698074	A A	ATTATATA others(299): Show ATTATATATAATATATAAAATATATAATATATATAATATATAAAATATAT CTTATATATAATATATAATATATATAAAATATATCTTATATATAATATAT AATATATATAAAATATATCTTATATATAATATATAATATATATAAAATAT ATCTTATATATAATATATAATATATATAAAATATATCTTATATATAATAT ATAATATATATAAAATATATCTTATATATAATATATAATATATATAAAAT ATATATTATATATAATATATAATATATATAAAATATATCTTATATATAAT ATATAAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0219 a0001c0001t0013g0219	1	352	0.0028	306	c.628 others(325): Show c.628+21464_628+21465insTTATATATAATATATAAAATATATAA TATATATAATATATAAAATATATCTTATATATAATATATAATATATATAA AATATATCTTATATATAATATATAATATATATAAAATATATCTTATATAT AATATATAATATATATAAAATATATCTTATATATAATATATAATATATAT AAAATATATCTTATATATAATATATAATATATATAAAATATATCTTATAT ATAATATATAATATATATAAAATATATATTATATATAATATATAATATAT ATAAAATATATCTTATATATAATATATAAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(299): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00099.hp1 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	2	424	0.0047	306	c.-32 others(317): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GLIS2_chr16_4311067_4344595	4344478	C C	CTGTGAGA others(299): Show CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGCGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAG GTGACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	395	0.0025	306	c.69 others(317): Show c.6954_*6955insTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGG GGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGACTGTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGCGTTCCGTGAGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGG GTTCCGTGAGAGGAGGTGACTG	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4884		chr16	TogoVar
GLIS2_chr16_4311067_4344595	4344478	C C	CTGTGAGA others(299): Show CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAAAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAG GTGACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	395	0.0025	306	c.69 others(317): Show c.6954_*6955insTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGG GGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTG AGAGGAGGGGGTTCTGTGAAAGGAGGGGGTTCCGTGAGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGG GTTCCGTGAGAGGAGGTGACTG	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4884		chr16	TogoVar
GLIS2_chr16_4311067_4344595	4344478	C C	CTGTGAGA others(299): Show CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGACGAGGGGGTTCCGTGAGAGGAG GTGACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03486.hp2 HG02717.hp1 HG02976.hp2 HG03486.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0013 a0001c0002 a0008c0013	a0001c0002t0001 a0001c0002t0007 a0008c0013t0007 a0001c0002t0001 a0001c0002t0007 a0008c0013t0007	a0001c0002t0001g0168 a0001c0002t0007g0289 a0008c0013t0007g0122 a0001c0002t0001g0168 a0001c0002t0007g0289 a0008c0013t0007g0122	3	395	0.0076	306	c.69 others(317): Show c.6954_*6955insTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGG GGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGACGAGGGG GTTCCGTGAGAGGAGGTGACTG	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4884		chr16	TogoVar
GLIS2_chr16_4311067_4344595	4344478	C C	CTGTGAGA others(299): Show CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAG GTGACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01123.hp1 HG01515.hp2 others(25): Show HG00544.hp1 HG01123.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG02027.hp1 HG02451.hp2 HG02559.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03710.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA19009.hp2 NA19080.hp1 NA19087.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0012c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0002c0003t0006 a0012c0012t0001	a0001c0001t0001g0187 a0001c0002t0001g0004 a0001c0002t0001g0013 others(23): Show a0001c0001t0001g0187 a0001c0002t0001g0004 a0001c0002t0001g0013 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0146 a0001c0002t0001g0183 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0247 a0001c0002t0003g0029 a0001c0002t0007g0290 a0001c0002t0007g0296 a0002c0003t0006g0104 a0002c0003t0006g0181 a0002c0003t0006g0182 a0012c0012t0001g0032	28	395	0.0709	306	c.69 others(317): Show c.6954_*6955insTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGG GGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGG GTTCCGTGAGAGGAGGTGACTG	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4884		chr16	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(299): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGA AGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAG GGAGGGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0005 a0002c0015t0005	a0002c0015t0005g0164 a0002c0015t0005g0164	1	188	0.0053	306	c.229 others(325): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPC5_chr13_91393621_92872237	92538793	C C	CATTCTTT others(299): Show CATTCTTTTCGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTTATCCAGCCTATCACTGATGGGCATTTTGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCTGCAATAAACATAAATGTGTATATGTCTTTATA GTAGAGTGATTTATAATCCTTTGGGTATATACTTTATATATACATATATA TATACACCTTATATGTATATATATATATACACCTTATATATATATACACC TTATATATATATACACCATATATATATATACCTTATATATATATATACAC ACCTTAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG02258.hp1 others(3): Show HG01261.hp1 HG01891.hp1 HG02258.hp1 HG02809.hp2 HG03239.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0002g0009 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0002g0009 a0001c0001t0003g0003 a0001c0001t0003g0004 a0003c0003t0001g0001	6	42	0.1429	306	c.156 others(329): Show c.1562-327487_1562-327486insTCTTTTCGTGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTTATCCAGCCTATCACTGATGG GCATTTTGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAA ACATAAATGTGTATATGTCTTTATAGTAGAGTGATTTATAATCCTTTGGG TATATACTTTATATATACATATATATATACACCTTATATGTATATATATA TATACACCTTATATATATATACACCTTATATATATATACACCATATATAT ATATACCTTATATATATATATACACACCTTATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(299): Show TTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAA ATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAAT ATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATAT TTATTCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0004 a0001c0001t0016g0005 a0001c0001t0016g0004 a0001c0001t0016g0005	2	208	0.0096	306	c.-97 others(323): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	322045	A A	AAAAAAAA others(299): Show AAAAAAAAAAAAAAAAAAAAAAAGAAAAATTAGCCTGGTGTGGTGGTGGG TGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAG CCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTA CAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGT GGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTG CTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCTAT TATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0005 a0010c0031t0005	a0010c0031t0005g0104 a0010c0031t0005g0104	1	155	0.0065	306	c.-32 others(317): Show c.-3259_-3258insGTAGATAATAGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTT TTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCC CATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTC CCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTC TTTTTTTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3250		chrX	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(299): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(31): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG02129.hp1 HG02145.hp2 HG02559.hp2 HG02602.hp1 HG03516.hp2 HG03688.hp2 HG04184.hp2 NA18747.hp2 NA18940.hp1 NA18950.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18992.hp2 NA19000.hp2 NA19001.hp2 NA19010.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0002t0001 a0005c0007t0002	a0001c0001t0001g0015 a0001c0001t0001g0189 a0001c0001t0001g0264 others(29): Show a0001c0001t0001g0015 a0001c0001t0001g0189 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0292 a0001c0001t0002g0016 a0001c0006t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0226 a0002c0002t0001g0237 a0002c0002t0001g0242 a0002c0002t0001g0245 a0002c0002t0001g0258 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0291 a0005c0007t0002g0274	34	410	0.0829	306	c.-43 others(317): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15590060	T T	TAAAAAAT others(299): Show TAAAAAATATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	428	0.0023	306	c.309 others(321): Show c.309-449_309-448insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAGATATTTTTT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	4/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(299): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	428	0.0023	306	c.187 others(323): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HELZ2_chr20_63553086_63579239	63571500	T T	CGGTGGGC others(299): Show CGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCT ACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCC TGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGC CTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTG CCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCT GCCTACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTC TGCCTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0094 a0029c0039t0094	a0029c0039t0094g0081 a0029c0039t0094g0081	1	390	0.0026	306	c.278 others(321): Show c.278+608_278+609insCAGGCAGAGCCAGAGGTTCCCAGGAGCTTG GAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTT GGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGCT TGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGC TTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAG CTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGA GCTTGGAGCGGGGCAGGAGCCCACCG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HERC4_chr10_67916905_68080283	67961926	A A	AGATGAAA others(299): Show AGATGAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	360	0.0028	306	c.192 others(325): Show c.1926+4756_1926+4757insCTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGCC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGACTTTCATC	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	16/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAT others(299): Show TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATGGAATACATATATATGGAATATATATATGGAATACATATATATGGAA TACATATATATGGAATACACATATGGAATACATATATATGGAATACACAT ATGGAATACATATATATGGAATACATATATGGAATACATATATGTGGAAT ACATATATGGAATATATATATATGTGGAATACATATATGGAATATATATA TATGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0211 a0002c0004t0014g0211	1	323	0.0031	306	c.-21 others(317): Show c.-2147_-2146insGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATGGAATACATATATATGGAATATATATATGGAA TACATATATATGGAATACATATATATGGAATACACATATGGAATACATAT ATATGGAATACACATATGGAATACATATATATGGAATACATATATGGAAT ACATATATGTGGAATACATATATGGAATATATATATATGTGGAATACATA TATGGAATATATATATATGTGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
ILF3_chr19_10649346_10697400	10672357	T T	TTTTTTTT others(299): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19030.hp1 HG03195.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0007 a0001c0001t0001 a0002c0003t0007	a0001c0001t0001g0172 a0002c0003t0007g0090 a0001c0001t0001g0172 a0002c0003t0007g0090	2	346	0.0058	306	c.411 others(321): Show c.411+839_411+840insTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCCTTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
IQCJ_chr3_159064319_159268747	159179532	C C	CAAAAGTG others(299): Show CAAAAGTGTGAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG03540.hp2 HG02451.hp1 HG02965.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0216 a0001c0001t0001g0244 a0001c0001t0001g0005 a0001c0001t0001g0216 a0001c0001t0001g0244	3	252	0.0119	306	c.10- others(323): Show c.10-66298_10-66297insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAGTGTGAATC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQGAP2_chr5_76398285_76713132	76578872	T T	TAAGAGTG others(299): Show TAAGAGTGAGAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0136 a0003c0004t0002g0136	1	222	0.0045	306	c.458 others(323): Show c.458+3116_458+3117insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAGAGTGAGAGCC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
KALRN_chr3_124028369_124731325	124367236	G G	GCTGACCC others(299): Show GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCAGCTGGCCGGGTTGGGGGGCTGACCGCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCGGATGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG TGGGGGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0066 a0001c0035t0002g0066	1	116	0.0086	306	c.177 others(327): Show c.1771-17596_1771-17595insCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGTTGGGGGGCTGACCGCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGTCTGACCCCCCCAC	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	10/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	21532949	T T	TAAAAGCT others(299): Show TAAAAGCTAATTAATTAAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 NA19030.hp1 HG02145.hp1 HG02630.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0001t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0066 a0001c0001t0015g0023 a0001c0002t0001g0065 a0001c0001t0001g0066 a0001c0001t0015g0023 a0001c0002t0001g0065	3	80	0.0375	306	c.61+ others(325): Show c.61+415621_61+415622insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTCGG CCTCCCAAAGTGCTTAATTAATTAGCTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACACA others(299): Show TACACACAAGAGGATATATATATGTACACACAAGAGGATATATATATATA TATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATATC CAAGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	232	0.0043	306	c.-67 others(325): Show c.-67-49303_-67-49302insCACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(299): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAG AGGATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	232	0.0043	306	c.-67 others(325): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATAT ATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATCCAAGAGGATATATATATATATATAT ATCCAAGAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(299): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAG GATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	232	0.0043	306	c.-67 others(325): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(299): Show GATATATATATATATATATATCTCCAAGAGGAGATATATATATATATATA TATCTCCAAAAGGAGATATATATATATATATATATCTCCAAAAGGAGATA TATATATATATATATATCTCCAAAAGGAGATATATATATATATATATATC TCCAAAAGGAGATATATATATATATATATATCTCCAAGAGGAGATATATA TATATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAG GAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAG AGGAGAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	232	0.0043	306	c.-67 others(325): Show c.-67-48616_-67-48615insATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAAAGGAGATATATATATATATATATATCTCCAAAAGG AGATATATATATATATATATATCTCCAAAAGGAGATATATATATATATAT ATATCTCCAAAAGGAGATATATATATATATATATATCTCCAAGAGGAGAT ATATATATATATATATCTCCAAGAGGAGATATATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(299): Show GATATATATATATATATATATCTCCAAGAGGAGATATATATATATATATA TATCTCCAAGAGGAGATATATATATATATATATATCTCCAAAAGGAGATA TATATATATATATATATCTCCAAAAGGAGATATATATATATATATATATC TCCAAAAGGAGATATATATATATATATATATCTCCAAGAGGAGATATATA TATATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAG GAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAG AGGAGAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	232	0.0043	306	c.-67 others(325): Show c.-67-48616_-67-48615insATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAAAGG AGATATATATATATATATATATCTCCAAAAGGAGATATATATATATATAT ATATCTCCAAAAGGAGATATATATATATATATATATCTCCAAGAGGAGAT ATATATATATATATATCTCCAAGAGGAGATATATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHDC4_chr16_87702812_87770986	87738956	C C	CCACACAC others(299): Show CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACC AGCACCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG02145.hp2 others(9): Show HG01081.hp1 HG01109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02723.hp2 HG02922.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2	a0005 a0017 a0019 others(3): Show a0005 a0017 a0019 a0020 a0021 a0022	a0005c0005 a0017c0020 a0019c0024 others(3): Show a0005c0005 a0017c0020 a0019c0024 a0020c0026 a0021c0028 a0022c0027	a0005c0005t0001 a0005c0005t0003 a0017c0020t0001 others(4): Show a0005c0005t0001 a0005c0005t0003 a0017c0020t0001 a0019c0024t0001 a0020c0026t0001 a0021c0028t0003 a0022c0027t0003	a0005c0005t0001g0316 a0005c0005t0003g0298 a0005c0005t0003g0300 others(9): Show a0005c0005t0001g0316 a0005c0005t0003g0298 a0005c0005t0003g0300 a0005c0005t0003g0301 a0005c0005t0003g0304 a0005c0005t0003g0317 a0005c0005t0003g0318 a0017c0020t0001g0020 a0019c0024t0001g0137 a0020c0026t0001g0302 a0021c0028t0003g0299 a0022c0027t0003g0303	12	380	0.0316	306	c.507 others(323): Show c.507-8313_507-8312insAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(299): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTC CCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	370	0.0027	306	c.-27 others(317): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGTGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(299): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTC CCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0033 a0004c0004t0013g0033	1	370	0.0027	306	c.-27 others(317): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(299): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTC CCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03041.hp1 HG03453.hp2 others(1): Show HG02723.hp2 HG03041.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0069 a0001c0001t0002g0007 a0001c0001t0002g0069	4	370	0.0108	306	c.-27 others(317): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522480	T T	TGTTGCTG others(299): Show TGTTGCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCTGTATTCTT GGGCGAGTACACTCGTGACATGTTGCTGTATTCTTGGGCGAGTACGCTGG TGACATGTTGCTGTATTCTTGGGCGAGTACATGTTGCTGTATTCTTGGGC GAGTACACTAGTGACATGTTGCCGTATTCTTGGGCGAGTACGCTGGTGAC ACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCT TGGGCGAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCCAGTAGGCTG GTGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0000 a0006c0006t0002g0000	1	460	0.0022	306	c.-48 others(317): Show c.-4821_-4820insGTTGCTGTATTCTTGGGCGAGTACACTAGTGACA TGTTGCTGTATTCTTGGGCGAGTACACTCGTGACATGTTGCTGTATTCTT GGGCGAGTACGCTGGTGACATGTTGCTGTATTCTTGGGCGAGTACATGTT GCTGTATTCTTGGGCGAGTACACTAGTGACATGTTGCCGTATTCTTGGGC GAGTACGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGAC ACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTATTCT TGGGCCAGTAGGCTGGTGACAC	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4786		chr11	TogoVar
LGR6_chr1_202188799_202324761	202205230	C C	CACACACA others(299): Show CACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACACAC ACACACCTAACACACACCTCCTCCAAACACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCCG TCCTTCAAACACACACACACCACACACACATCTAACACACACCTCCTTCA GACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACACAC ACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACAC ACATCTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0134 a0001c0001t0001g0143	2	262	0.0076	306	c.212 others(325): Show c.212+11037_212+11038insACCTAACACACACCTTCAAGCACACA CTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACA CACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACA CACCTAACACACCCGTCCTTCAAACACACACACACCACACACACATCTAA CACACACCTCCTTCAGACACACACCTCCAAACACACACACACCTTACACA CACCTTCAAACACACACACACACCTAACACACACCTCCTTCAAACACACA CACCTCCAAACACACACATCTAACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471560	A A	ATATATTT others(299): Show ATATATTTATATATATTTATATATATTTATATATATTTATATATATATTT TTATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATTT ATATATATATATTTTTATATATATTTATATATATTTTTATATATAGTTAT ATATATTTATATATAGTTATATATATTTATATATAGTTATGTATAGTTAT ATATAGTTATATATATAGTTATATATAGTTATATATATAGTTATATATAT ATATTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	260	0.0039	306	c.125 others(323): Show c.125+9578_125+9579insTTATATATATTTATATATATTTATATAT ATTTATATATATATTTTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATATATTTTTATATATATTTATATATAT TTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATATAT AGTTATGTATAGTTATATATAGTTATATATATAGTTATATATAGTTATAT ATATAGTTATATATATATATTTTTATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857600	A A	ACGGGACG others(299): Show ACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0195 a0001c0003t0001g0195	1	294	0.0034	306	c.153 others(325): Show c.1530-2895_1530-2894insAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACAC CACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858471	G G	GACTGGTG others(299): Show GACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGG GACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGA CGGGTGT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0183 a0001c0003t0001g0183	1	294	0.0034	306	c.153 others(325): Show c.1530-3766_1530-3765insACACCCGTCCCGTGACACCACTGCAC ACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACAC GCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCAGTCACACCCGTCCCGTGACACCAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858471	G G	GACTGGTG others(299): Show GACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGG GACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGA CGGGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG02273.hp1 others(3): Show HG00609.hp1 HG00673.hp2 HG02273.hp1 HG02300.hp1 NA18967.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0011t0001	a0001c0001t0001g0219 a0001c0003t0001g0237 a0001c0010t0001g0115 others(3): Show a0001c0001t0001g0219 a0001c0003t0001g0237 a0001c0010t0001g0115 a0001c0011t0001g0155 a0001c0011t0001g0157 a0001c0011t0001g0158	6	294	0.0204	306	c.153 others(325): Show c.1530-3766_1530-3765insACACCCGTCCCGTGACACCACTGCAC ACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACAC GCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCAGTCACACCCGTCCCGTGACACCAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858471	G G	GACTGGTG others(299): Show GACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGG GACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGA CGGGTGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0195 a0001c0003t0001g0195	1	294	0.0034	306	c.153 others(325): Show c.1530-3766_1530-3765insACACCCGTCCCGTGACACCACTGCAC ACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACAC GCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCAGTCACACCCGTCCCGTGACACCAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(299): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGG GATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGA GCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTG GGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTT GAGCGGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02293.hp2 HG03239.hp2 others(1): Show HG00408.hp2 HG02293.hp2 HG03239.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0003 a0001c0001t0001 a0001c0001t0005 a0001c0003t0003	a0001c0001t0001g0135 a0001c0001t0005g0105 a0001c0003t0003g0123 others(1): Show a0001c0001t0001g0135 a0001c0001t0005g0105 a0001c0003t0003g0123 a0001c0003t0003g0138	4	220	0.0182	306	c.133 others(323): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGT TGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTT CTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTA GTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAG TTCTGGGGATAGACAGTAGTTGAGCGGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRMDA_chr10_75426624_76565168	75672589	C C	CCCTTCCC others(299): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCCTT TCCTGCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	46	0.0217	306	c.131 others(327): Show c.131+234095_131+234096insCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTTCCTTCCCTTTCCTGCT	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6			chr10	TogoVar
MAP3K20_chr2_173070846_173273015	173260492	T T	TGAGGCTG others(299): Show TGAGGCTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCC AGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCT GGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCTCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03490.hp2 HG03492.hp1 others(3): Show HG01346.hp2 HG03490.hp2 HG03492.hp1 NA19066.hp1 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0007 a0001c0012 a0001c0021 a0001c0007 a0001c0012 a0001c0021	a0001c0007t0007 a0001c0012t0007 a0001c0021t0007 a0001c0007t0007 a0001c0012t0007 a0001c0021t0007	a0001c0007t0007g0154 a0001c0012t0007g0111 a0001c0012t0007g0112 others(3): Show a0001c0007t0007g0154 a0001c0012t0007g0111 a0001c0012t0007g0112 a0001c0012t0007g0117 a0001c0012t0007g0119 a0001c0021t0007g0310	6	334	0.0180	306	c.147 others(323): Show c.1477-559_1477-558insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCTCGCCTGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGAGGCTGTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173260492	T T	TGAGGCTG others(299): Show TGAGGCTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCC AGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCT GGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCTCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02165.hp2 HG02273.hp1 others(2): Show HG01934.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 NA18977.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0085 a0001c0007t0007g0142 a0001c0007t0007g0144 others(2): Show a0001c0007t0007g0085 a0001c0007t0007g0142 a0001c0007t0007g0144 a0001c0007t0007g0263 a0001c0007t0007g0292	5	334	0.0150	306	c.147 others(323): Show c.1477-559_1477-558insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCTCGCCTGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCGCGCCCGGCCGAGGCTGTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAPKAP1_chr9_125432394_125712208	125458889	C C	CGGGGTGC others(299): Show CGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACCGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCCCT CCCGGAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG02622.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0086 a0001c0001t0010g0088 a0001c0001t0010g0086 a0001c0001t0010g0088	2	300	0.0067	306	c.134 others(325): Show c.1345+9082_1345+9083insATCCGGGAGGGAGGTGGGGGCGTCAG CCCCCCGCCTGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC ACCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCA TCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCACCCC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar

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Search Results (Total: 10000 hits)