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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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
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(967): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTCTATATATTTTATATATAGTATGTACTATATATTTTATATA TAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATA TAGTATGTACTATATATATTTTATATATAGTATGTACATTGTATATACTA TATATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTAT GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTATGTAT AGTATATATACTGCATGTACTATATATATTTTATGTATAGTATATATACT GTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATA TATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGT ATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATA CTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTA TATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTAT GTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATATACTATATATATT TTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19067.hp1 NA18995.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0142 a0001c0001t0004g0115 a0001c0001t0004g0142	2	182	0.0110	974	c.505 others(993): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACA GTATATATACTATACATAAAATATATATAGTACATGCAGTATATATACTA TACATAAAATATATATAGTACATGCAGTATATATACTATACATAAAATAT ATATAGTACATACTATACATAAAATATATATATAGTATATACAATGTACA TACTATACATAAAATATATATAGTACATACTATACATAAAATATATATAT AGTATATACAATGTACATACTATATATAAAATATATATAGTACATACTAT ATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACTAT ATATAAAATATATAGTACATACTATATATAAAATATATAGAGTACATACT ATATATAAAATATATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
C10orf67_chr10_23197696_23349797	23331540	A A	AAGGGAAA others(967): Show AAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGA AAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGG AAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGG GAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAA AGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGG ACGGGAAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAACCAGGACAGGAACCGGGACAGGAACCGGGAAGGGAAGGGAT GGGAACCGATGGGAACCGGGATGGCAACCAGGAAGGGAAGGGACCGGGAC GGGAAGGGAAGGAAACCGGGACGGCAACAGAGACAGGAACCGGGAAGGGA AAAGAAGGGAAGAGAACCGGGAAGGGAAGGGAACCGGGACAGGAACCGGG AAGGGAAGGGAAGAGAACAGGGAAGGGAGGGTAGGGGAGGGAAACCGGGA AGGAAGAGGAAGGGGAGGGGAGACCGGGACGGGAACTGGGACGGGAAGGG TAGGGAACCGGGCGGGAACCGGGACGGGAGGGGAAGGGAATGGGGACGAG AAACGGGACGGGAACCAGGACAGGAACCAGAACGGAAACAGGGAAGGGAA GGGAAGGGAACAGGGACAGGAATCGGGAAGGGAACCGGGACAGGAACCGG AAAGGGAAGGGAACCAGGAAAGGAAAGGAAGGCAAGCGGGACGGGAGCCG GGAAGGCAAGAGAAGGGAACCGGGAAGAGTAAGGAGGAAAACCGGGACGG GAACAGGACGGGAACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACG GGAACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGA AGGGCAGGGAACCGGCACAGGAAGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18955.hp2 NA18968.hp1 NA18522.hp1 NA18955.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0256 a0001c0001t0001g0289 a0001c0001t0001g0146 a0001c0001t0001g0256 a0001c0001t0001g0289	3	326	0.0092	974	c.327 others(991): Show c.327+1521_327+1522insCCTTCCTGTGCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGTCCTGTTCCCG TCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTTGCCTTCCCGG CTCCCGTCCCGCTTGCCTTCCTTTCCTTTCCTGGTTCCCTTCCCTTTCCG GTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTCCCTTCCCTTC CCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGTCCCGTTTCTC GTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGGTTCCCTACCC TTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCCTCTTCCTTCC CGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCCTTCCCTTCCC GGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCCCTTCTTTTCC CTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTCCCTTCCCGTC CCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATCGGTTCCCATC CCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTTCCCGTCCC GGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTT CCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCT TCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCC TTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCC CTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(967): Show TCTCTCCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCT CTCCCTCTCTCCCTCTCTCCCTCTGCTCCTCTCCCTCTCCCTCCCCCTCC CTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCCT CTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCC CCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCC CCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTC CTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCC CCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGT CCTCTCTCTCTCCCCCCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCC CCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCC CCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCC CTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCCCCCTCT CTCCCTCTCCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCC CTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCT CCCTCTCCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCT CCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCC ATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTC TCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCA TCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCC CCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0008 a0001c0001t0017g0008	1	320	0.0031	974	c.380 others(991): Show c.380-7767_380-7766insCCCCCCTCTCTCCCTCTCCCTCACCTCC TCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTGCTCCTCTCCC TCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCC ATCCCCCTCCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCC CCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCA CATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTC CCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTT CCTCTCCCCCTCTCCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAAT CCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTTTCTTCCTCTC CCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTC TCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTC CCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTC TCCCTCTCCCCCTCTCTCCCTCTCCCCCTCTCCCCCTCTCTCCCTCTCTC CCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTT TCCCTCTCCCCATCTCCCTCTCCCCCCCCTTCTCCCTCTCCCACCCTCTT CCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCT CCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTC TCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCC TCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(967): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCCCATCCCCCTCC CCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTC TCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTC TCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCA CGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCT CTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCA CGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCT CTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCT CTCGTCCTCTCTCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCT CTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCT CTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCT CCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCAT CTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCC TCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCC CATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCC TCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCA TCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCC CCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	320	0.0031	974	c.380 others(991): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCT CCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCC CTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCC CTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTC TCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCC CCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCT AATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCC TCTCCCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCC TCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCTCTCCTCC TGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTC TTCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTC TCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTC TTCCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCT TCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCC TCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCC CTCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTC TCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCC TCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(967): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCT CTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTC TCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCT GTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCT CTCCCCCTCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCT CTCTCTCCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCC TCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTC TCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACC TCTCCCCCTCTACCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCC TCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCC TCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCTCTCCCCTC TCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTC CCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATC TCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCT CCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCC ATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTC TCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCA TCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCC CCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	320	0.0031	974	c.380 others(991): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCAT CCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCC TTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACAT CCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCTCCCTCTCTCCCTC TCCCTCACGTCCTCTCTCTCTCCCCCCCTCCCCCTCCCTCTCCCCTTCCT CTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCT CTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCC CTCTCCCTCTCTACCTCTCCCCCTCTACCTCTCCCCGTCTCCCTCTCTCC CTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTC CTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCT CTCTCCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCT CCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCT TTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTT CCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCT CCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTC TCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCC TCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
DBNDD1_chr16_89999871_90024456	90008382	C C	CCACACCT others(967): Show CCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCC CAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCC CAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCC TCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCACCCCCCA AACACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTC CCAGGACGTCCCAAGGGGCCTCAGCCCACCACACACACCTCCCAGGACGT CCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGACGTCCCAAGGGG TCTCAGCCCACCACGCACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCC ACCACCCACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCAC ACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGG ACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAA GGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAG CCCACCATGCACACCTCTCAGGACTTCCCAAGGGGCCTCAGCCCACCACC CACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCC AGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTCC CAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCT CAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCA AACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCATGCACACCT CTCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACG TCCCAAGGGGCCTCAGCCCACCACG	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0121 a0001c0001t0001g0132	2	412	0.0049	974	c.319 others(989): Show c.319+401_319+402insCGTGGTGGGCTGAGGCCCCTTGGGACGTCC TGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGAGAGGTG TGCATGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGG GGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCC CCTTGGGAAGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACG TCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAG GTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGGTGG TGGGCTGAGGCCCCTTGGGAAGTCCTGAGAGGTGTGCATGGTGGGCTGAG GCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGG ACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGG GAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGG TGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGGGTGGTGGGCT GAGGCCCCTTGGGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGACCCCT TGGGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGGGACGTC CTGGGAGGTGTGTGTGGTGGGCTGAGGCCCCTTGGGACGTCCTGGGAGGT GTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGG GGTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCC CTTGGGACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAG TCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGG TGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
ELL_chr19_18437663_18527070	18442449	A A	ACACACCC others(967): Show ACACACCCTCACACCTACACACCCACCACACACCTACACAAACCCCACCC CCACAATCACACCACACCCACACCCCAACACACACCACACCCACACCTAC ACACCCCAACACACCAAACACCCCAACACACACACCACACACCCACTCCA CACCCCAACACACCCCACACCCCCACTGTCACACCACACCCACACACCCC AAAACACACCACTGCTCCAACACATACACCACACCCACACTTACACACCT ACACACCACACACACTCCACACCACACGCACCCAACACACCACACACCCA CTTACCCCAACACACACCACACCCCAACACACACCACACACCACACGCAC CCAACACACACACCTACACCCTCATACCACACACCCAGATACACCACACC GACACCAACACACCACACCCCCACACCACACCCACACCCCAACACACCAC ACACCCAACACTGCACACCCCAACACACACCACACCCACACCCTCATACC ACCCAGATACAGCACACACCCACACCCCAACACACCCAAACCCCAACACA CACCACACCCACACCCCACCACATACCACACACACACCCAACACACACCA CATACCCAACACCCTAGCACGCACTGCATATAATACACCCACACCCTAAC ACACACCACCACACCCACACCCTCACACGCCCATATACACCACACCCACA CCACACCCACCCTAACACACACACGTCCAGATACACCACACCCACACATG AACACACCCACACAAACCCACACCCTAACACACCACACCCCCAGATACAC CACACCCACACACCACACATCCACACCCTAACACACACGTCCAGATACAC CACCCACACCAACACACCCACACAACACACACCCACACCCTAACACCCCC ACAGATAAACCACACACACCAACACACAACCCACACCCTAACACCACACC CACACCCCCACAGATACCCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	244	0.0041	974	c.23 others(985): Show c.2302_*2303insGGTGTGGGGTATCTGTGGGGGTGTGGGTGTGGTG TTAGGGTGTGGGTTGTGTGTTGGTGTGTGTGGTTTATCTGTGGGGGTGTT AGGGTGTGGGTGTGTGTTGTGTGGGTGTGTTGGTGTGGGTGGTGTATCTG GACGTGTGTGTTAGGGTGTGGATGTGTGGTGTGTGGGTGTGGTGTATCTG GGGGTGTGGTGTGTTAGGGTGTGGGTTTGTGTGGGTGTGTTCATGTGTGG GTGTGGTGTATCTGGACGTGTGTGTGTTAGGGTGGGTGTGGTGTGGGTGT GGTGTATATGGGCGTGTGAGGGTGTGGGTGTGGTGGTGTGTGTTAGGGTG TGGGTGTATTATATGCAGTGCGTGCTAGGGTGTTGGGTATGTGGTGTGTG TTGGGTGTGTGTGTGGTATGTGGTGGGGTGTGGGTGTGGTGTGTGTTGGG GTTTGGGTGTGTTGGGGTGTGGGTGTGTGCTGTATCTGGGTGGTATGAGG GTGTGGGTGTGGTGTGTGTTGGGGTGTGCAGTGTTGGGTGTGTGGTGTGT TGGGGTGTGGGTGTGGTGTGGGGGTGTGGTGTGTTGGTGTCGGTGTGGTG TATCTGGGTGTGTGGTATGAGGGTGTAGGTGTGTGTGTTGGGTGCGTGTG GTGTGTGGTGTGTGTTGGGGTGTGGTGTGTGTTGGGGTAAGTGGGTGTGT GGTGTGTTGGGTGCGTGTGGTGTGGAGTGTGTGTGGTGTGTAGGTGTGTA AGTGTGGGTGTGGTGTATGTGTTGGAGCAGTGGTGTGTTTTGGGGTGTGT GGGTGTGGTGTGACAGTGGGGGTGTGGGGTGTGTTGGGGTGTGGAGTGGG TGTGTGGTGTGTGTGTTGGGGTGTTTGGTGTGTTGGGGTGTGTAGGTGTG GGTGTGGTGTGTGTTGGGGTGTGGGTGTGGTGTGATTGTGGGGGTGGGGT TTGTGTAGGTGTGTGGTGGGTGTGTAGGTGTGAGGGTGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		213		chr19	TogoVar
ISYNA1_chr19_18429388_18443133	18442449	A A	ACACACCC others(967): Show ACACACCCTCACACCTACACACCCACCACACACCTACACAAACCCCACCC CCACAATCACACCACACCCACACCCCAACACACACCACACCCACACCTAC ACACCCCAACACACCAAACACCCCAACACACACACCACACACCCACTCCA CACCCCAACACACCCCACACCCCCACTGTCACACCACACCCACACACCCC AAAACACACCACTGCTCCAACACATACACCACACCCACACTTACACACCT ACACACCACACACACTCCACACCACACGCACCCAACACACCACACACCCA CTTACCCCAACACACACCACACCCCAACACACACCACACACCACACGCAC CCAACACACACACCTACACCCTCATACCACACACCCAGATACACCACACC GACACCAACACACCACACCCCCACACCACACCCACACCCCAACACACCAC ACACCCAACACTGCACACCCCAACACACACCACACCCACACCCTCATACC ACCCAGATACAGCACACACCCACACCCCAACACACCCAAACCCCAACACA CACCACACCCACACCCCACCACATACCACACACACACCCAACACACACCA CATACCCAACACCCTAGCACGCACTGCATATAATACACCCACACCCTAAC ACACACCACCACACCCACACCCTCACACGCCCATATACACCACACCCACA CCACACCCACCCTAACACACACACGTCCAGATACACCACACCCACACATG AACACACCCACACAAACCCACACCCTAACACACCACACCCCCAGATACAC CACACCCACACACCACACATCCACACCCTAACACACACGTCCAGATACAC CACCCACACCAACACACCCACACAACACACACCCACACCCTAACACCCCC ACAGATAAACCACACACACCAACACACAACCCACACCCTAACACCACACC CACACCCCCACAGATACCCCACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	308	0.0033	974	c.-43 others(985): Show c.-4367_-4366insGGTGTGGGGTATCTGTGGGGGTGTGGGTGTGGTG TTAGGGTGTGGGTTGTGTGTTGGTGTGTGTGGTTTATCTGTGGGGGTGTT AGGGTGTGGGTGTGTGTTGTGTGGGTGTGTTGGTGTGGGTGGTGTATCTG GACGTGTGTGTTAGGGTGTGGATGTGTGGTGTGTGGGTGTGGTGTATCTG GGGGTGTGGTGTGTTAGGGTGTGGGTTTGTGTGGGTGTGTTCATGTGTGG GTGTGGTGTATCTGGACGTGTGTGTGTTAGGGTGGGTGTGGTGTGGGTGT GGTGTATATGGGCGTGTGAGGGTGTGGGTGTGGTGGTGTGTGTTAGGGTG TGGGTGTATTATATGCAGTGCGTGCTAGGGTGTTGGGTATGTGGTGTGTG TTGGGTGTGTGTGTGGTATGTGGTGGGGTGTGGGTGTGGTGTGTGTTGGG GTTTGGGTGTGTTGGGGTGTGGGTGTGTGCTGTATCTGGGTGGTATGAGG GTGTGGGTGTGGTGTGTGTTGGGGTGTGCAGTGTTGGGTGTGTGGTGTGT TGGGGTGTGGGTGTGGTGTGGGGGTGTGGTGTGTTGGTGTCGGTGTGGTG TATCTGGGTGTGTGGTATGAGGGTGTAGGTGTGTGTGTTGGGTGCGTGTG GTGTGTGGTGTGTGTTGGGGTGTGGTGTGTGTTGGGGTAAGTGGGTGTGT GGTGTGTTGGGTGCGTGTGGTGTGGAGTGTGTGTGGTGTGTAGGTGTGTA AGTGTGGGTGTGGTGTATGTGTTGGAGCAGTGGTGTGTTTTGGGGTGTGT GGGTGTGGTGTGACAGTGGGGGTGTGGGGTGTGTTGGGGTGTGGAGTGGG TGTGTGGTGTGTGTGTTGGGGTGTTTGGTGTGTTGGGGTGTGTAGGTGTG GGTGTGGTGTGTGTTGGGGTGTGGGTGTGGTGTGATTGTGGGGGTGGGGT TTGTGTAGGTGTGTGGTGGGTGTGTAGGTGTGAGGGTGTG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4317		chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132173157	T T	TCCCCCTC others(967): Show TCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCT GTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCTCTCC CCCTCTCCCCTCCCCCTCCCCCCTCTCTCTCCCCCTCTCCCCTCCCCCTC CCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCT CCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCC TCTCCCATCCCCCTCCCCCCTCTCCCATCCCCCTCCCCTTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCCCCCTC CCCCCTCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCT CCTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTC CCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTC CCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCATCCTTCCCTCTCCCCCTC CCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTC CTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCC TCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCTCCTTCCCTCTC TCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTT CCCTCTCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCC TCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCC TCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCC CCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCC CCTGTCTCTCTCTCCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0013 a0001c0048t0013	a0001c0048t0013g0098 a0001c0048t0013g0098	1	158	0.0063	974	c.11 others(995): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC TCTCTCCCCCTCCCCTCCCCCTCTGTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCTCCCCCCTCTCTCTCCCCCTCTCCCCTCCCCCTCCCCCCTCT CTCTCCCCCTCTCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCC CCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTCTCCCCTC CCCCCTCTCCCCTCCCCCTCCCCCTCTCCCATCCCCCTCCCCCCTCTCCC ATCCCCCTCCCCTTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCTCTCT CCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCCTCCCCCTCCTT CCCTCTCCCCCTCCCCCTCCCCCTCCTCCCTCTCCCCCTCCCCCTCCCCC TCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCC TCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCCCCC TCCCCATCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCC TCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTC CCTCTCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCC TCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCTCCTTC CCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTC TGTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCC TGTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCC TCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(967): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATATCCATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATATC CATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0208	1	284	0.0035	974	c.126 others(991): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATGGATATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(967): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATATCCATATATATATATCCATATATA TATATATATCCATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	284	0.0035	974	c.126 others(991): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATATGGATATATATATATGGATATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(967): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGG GGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAG GGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGAGGGAAGAGAGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGG GAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGA GGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGG AGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGG AGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGG GAGGGAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	272	0.0037	974	c.250 others(989): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTC TTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCTCCCATCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTC CCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTC CCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCC CTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(967): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAG GGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGAAGAGAGG GAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGG GAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGA GGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGG AGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGG AGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGG GAGGGAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	272	0.0037	974	c.250 others(989): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTC CATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTC CCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTC CCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCC CTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSN_chrX_65662654_65746931	65714979	A A	ATAGAGTT others(967): Show ATAGAGTTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT TTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGC ACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCT GCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCC CTCCCCCCTTCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCT TCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAAT ATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGT TTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTA TGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAG TCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAA TAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATT TATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGT ATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGG TTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTC CGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATT CTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCT GATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAA TGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATG GGTTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCT GGATATTAGCCCTTTGTCAGATGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0015 a0001c0001t0012g0015	1	170	0.0059	974	c.13- others(989): Show c.13-1825_13-1824insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTCTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACA TGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGT GCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGC TATCCCTCCCCCCTTCCCCGACCCCACCACAGTCCCCAGAGTGTGATATT CCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTG AGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATG ATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATT TTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAA TCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATT GTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCA TGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAA ATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCAC AATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTAT TTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTG CCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATT TCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGC ATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTT TGATGGGTTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAG ATTCTGGATATTAGCCCTTTGTCAGATGAGTAGAGTTGATTTTT	MSN	ENSG00000147065.18	transcript	ENST00000360270.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
RASGRF2_chr5_80955363_81235162	81146446	G G	GCTGGTCT others(967): Show GCTGGTCTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGT AAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATA GAGAAAGAAATAAGGGGACCCGGGGAACCAGCGTTCAGCATATGGAGGAT CCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCCGTGGGTGTT TCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGG TCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAA GGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAGTGC TTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCG GTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAG ACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCT CAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGA CCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACG AGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGG CTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGG GTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTC AAGCATCTGTTTAACAAAGCACATCCTGCACCGCCCTTAATCCATTCAAC TCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGG TTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAAC AAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAAT CTGATCTCTCTTGCTTTTCCCCACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02559.hp1 others(3): Show HG01192.hp2 HG02109.hp1 HG02559.hp1 HG03540.hp1 HG03704.hp1 HG03942.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0011 a0001c0001 a0001c0002 a0003c0011	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0002t0005 a0003c0011t0001	a0001c0001t0001g0057 a0001c0001t0010g0019 a0001c0002t0001g0064 others(3): Show a0001c0001t0001g0057 a0001c0001t0010g0019 a0001c0002t0001g0064 a0001c0002t0005g0068 a0003c0011t0001g0107 a0003c0011t0001g0144	6	276	0.0217	974	c.268 others(995): Show c.2686+19290_2686+19291insGTAGGGGTGGGTTGCCCCTACACA CCTGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAG ACACAGAGACAAAGTATAGAGAAAGAAATAAGGGGACCCGGGGAACCAGC GTTCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTAT TGATCATCCGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAG ACAATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTGG CATCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATAC ACATAAACATCTCAGTGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCC ACCTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACA ATCGGGTTTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACA GATGCCTTCCTCTTGTCTCAACTGCAAGAGGCATTCCTTCCTCTTTTACT AATCCTCCTCAGCACAGACCCTTTACGGGTGTCGGGCTGGGGGACGGTCA GGTCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAA ACCTTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCG CAGTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTT AAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCCTGCACC GCCCTTAATCCATTCAACTCTGAGTGGACACAGCACATGTTTCAGAGAGC ACAGGGTTGGGGGTAAGGTTATAGATTAACAGAATCTCAAGGCAGAAGAA TTTTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTA CACAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCACACTGGTCT	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098238	A A	ACCCAGGC others(967): Show ACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTC TGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAAC CCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTC TAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCC CTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAG CCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTTTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCC TCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCT TCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCACGCCCAGGC CCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCC AGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCAC ACCCAGCCCCCTTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCT GCACGCCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCT AACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGC CCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACC CAGCCCCCCTCTAACCCTCTGCATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0074 a0002c0012t0003g0074	1	118	0.0085	974	c.125 others(991): Show c.125-3991_125-3990insCATGCAGAGGGTTAGAGGGGGGCTGGGT GTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGA GGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTGTG CAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGG CGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCC TGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAAGG GGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAG AGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGG TTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAG AGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAAAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTG GGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGG GCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAG GGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTT AGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAG GGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC2A9_chr4_9821224_10026497	9979980	T T	TCTTCTTG others(967): Show TCTTCTTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTA AGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAG AGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCATATGGAGGATC CCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTT CTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGT CAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAAG GATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAGTGCT TTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGG TTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGA CATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTC AACTGCAAGAGGCATGCCTTCCTCTTATACTAATCCTCCTCAGCACAGAC CCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGA GGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGC TTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGG TACTCGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCA AGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACT CTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGGTAAGG TTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGCACATAAC AAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAAT CTGATCTCTCTTGCTTTTCCCCACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 HG03209.hp1 others(1): Show HG02615.hp1 HG03195.hp2 HG03209.hp1 NA19030.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0188 a0001c0013t0001g0213 a0001c0013t0001g0251 others(1): Show a0001c0013t0001g0188 a0001c0013t0001g0213 a0001c0013t0001g0251 a0001c0013t0001g0278	4	336	0.0119	974	c.681 others(989): Show c.681+611_681+612insTGTGGGGAAAAGCAAGAGAGATCAGATTGT TACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTAT GTGCTAAGAAAAATTCTTCTGCCTTGAGATTCTGTTAATCTATAACCTTA CCCCCCAACCCCGTGCTCTCTGAAATGTGTGCTGTGTCAACTCAGAGTTA AATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAG GCAGCATGCTCCTTAAGAGTCATCACCACTCCCTAATCTCGAGTACCCAG GGACACAAAAACTGCGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAG GTATTGTCCAAGGTTTCTCCCCATGTGATAGTCTGAAATATGGCCTCGTG GGAAGGGAAAGACCTGACCGTCCCCCAGCCCGACACCCGTAAAGGGTCTG TGCTGAGGAGGATTAGTATAAGAGGAAGGCATGCCTCTTGCAGTTGAGAC AAGAGGAAGGCATCTGTCTCCTGCCTGTCCCTGGGCAATGGAATGTCTCG GTATAAAACCCGATTGTATGCTCCATCTACTGAGATAGGGAAAAACCGCC TTAGGGCTGGAGGTGGGACCTGCGGGCAGCAATACTGCTTTGTAAAGCAC TGAGATGTTTATGTGTATGCATATCTAAAAGCACAGCACTTAATCCTTTA CATTGTCTATGATGCCAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCT CTCCCCACAATTGTCTTGTGACCCTGACACATCCCCCTCTTTGAGAAACA CCCACAGATGATCAATAAATACTAAGGGAACTCAGAGGCTGGCGGGATCC TCCATATGCTGAACGCTGGTTCCCCGGTTCCCCTTATTTCTTTCTCTATA CTTTGTCTCTGTGTCTTTTTCTTTTCCAAATCTCTCGTCCCACCTTACGA GAAACACCCACAGGTGTGTAGGGGCAACCCACCCCTACAAGAAG	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	5/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9979980	T T	TCTTCTTG others(967): Show TCTTCTTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTA AGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAG AGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCGGCATATGGAGGATC CCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTT CTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGT CAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAAG GATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAGTGCT TTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGG TTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGA CATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTC AACTGCAAGAGGCATGCCTTCCTCTTATACTAATCCTCCTCAGCACAGAC CCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGA GGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGC TTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGG TACTCGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCA AGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACT CTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGGTAAGG TTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGCACATAAC AAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAAT CTGATCTCTCTTGCTTTTCCCCACA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0009 a0009	a0009c0033 a0009c0033	a0009c0033t0001 a0009c0033t0001	a0009c0033t0001g0071 a0009c0033t0001g0071	1	336	0.0030	974	c.681 others(989): Show c.681+611_681+612insTGTGGGGAAAAGCAAGAGAGATCAGATTGT TACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTAT GTGCTAAGAAAAATTCTTCTGCCTTGAGATTCTGTTAATCTATAACCTTA CCCCCCAACCCCGTGCTCTCTGAAATGTGTGCTGTGTCAACTCAGAGTTA AATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAG GCAGCATGCTCCTTAAGAGTCATCACCACTCCCTAATCTCGAGTACCCAG GGACACAAAAACTGCGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAG GTATTGTCCAAGGTTTCTCCCCATGTGATAGTCTGAAATATGGCCTCGTG GGAAGGGAAAGACCTGACCGTCCCCCAGCCCGACACCCGTAAAGGGTCTG TGCTGAGGAGGATTAGTATAAGAGGAAGGCATGCCTCTTGCAGTTGAGAC AAGAGGAAGGCATCTGTCTCCTGCCTGTCCCTGGGCAATGGAATGTCTCG GTATAAAACCCGATTGTATGCTCCATCTACTGAGATAGGGAAAAACCGCC TTAGGGCTGGAGGTGGGACCTGCGGGCAGCAATACTGCTTTGTAAAGCAC TGAGATGTTTATGTGTATGCATATCTAAAAGCACAGCACTTAATCCTTTA CATTGTCTATGATGCCAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCT CTCCCCACAATTGTCTTGTGACCCTGACACATCCCCCTCTTTGAGAAACA CCCACAGATGATCAATAAATACTAAGGGAACTCAGAGGCTGGCGGGATCC TCCATATGCCGAACGCTGGTTCCCCGGTTCCCCTTATTTCTTTCTCTATA CTTTGTCTCTGTGTCTTTTTCTTTTCCAAATCTCTCGTCCCACCTTACGA GAAACACCCACAGGTGTGTAGGGGCAACCCACCCCTACAAGAAG	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	5/11			chr4	TogoVar
SMYD3_chr1_245744347_246512279	246325070	G G	GGGGGGGC others(967): Show GGGGGGGCAGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAG AAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAG GAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTTGGGGGG GCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAG TCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGG AGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGA GTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGA GAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAG TCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAG AAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAA GGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG GCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGG GGGCGGGAAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	150	0.0067	974	c.531 others(991): Show c.531+2130_531+2131insGACTCCTTCTCCCTCCTTCCCGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCCGACTC CTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCC CCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTC CCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTC CTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTC CTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCC CCCAACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTT CCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTC CCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCTGCCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1223139	T T	TCTCCCTG others(967): Show TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGTG ATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAACTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAGGCGGCGCAGTGATGGAGTGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGA TGGAGGGTGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGGGCGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0075 a0003c0007t0002g0075	1	190	0.0053	974	c.719 others(993): Show c.719+14027_719+14028insCTGGTGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTG CAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGAT CGCTGTAGAGGAAACTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCC TGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGATGGA GGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAG GAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGA AGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCG CAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGAT CGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCC TGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGA GGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAG GAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGA GGTGCTGGATCGCTGTAGAGGAAGGCGGCGCAGTGATGGAGTGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTG CAGGATGGAGGGTGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGT AGAGGAAAGTGGTGCAGTGATGGAGGGCGCCTCCCTGTCCTGCCTGCTGC TGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGT CTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(967): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATATATATTATATATTATATAACTATATAT TATATATATATTATATATTATATAACTATATATTATATATTATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATATATATTATACATTATATAACTATATATTATA TATATATATTATATATTATATAACATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATATTATATATTATATAACTATATAT TATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACATATATTATATATAATATA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	268	0.0037	974	c.73 others(985): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATTATATATTATATAACTATATATTA TATATTATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATATATATTATACATTATA TAACTATATATTATATATATATATTATATATTATATAACATATATTATAT ATATATATTATATATTATATAACTATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACATAT ATTATATATAATATATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(967): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TTTTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATTATATATTATATAACTATATATTATATAT TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATATATATTATATATTATATAACTATATATTATA TATATATATTATATATTATATAACATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATATTATATATTATATAACTATATAT TATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACATATATTATATATAATATA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	1	268	0.0037	974	c.73 others(985): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATTTTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATTATATATTATATAA CTATATATTATATATTATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATATATATTATATATTATA TAACTATATATTATATATATATATTATATATTATATAACATATATTATAT ATATATATTATATATTATATAACTATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACATAT ATTATATATAATATATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(967): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCT ATCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACC ATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCC CACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCA TCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACC TACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACC CACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACC CATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACC CACCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCC TATCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCC ATCCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCT ATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACAC ACCCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATC CACCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACC CACACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACC CAGCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACC TATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp1 HG02717.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0057 a0001c0001t0003g0008 a0001c0001t0002g0057 a0001c0001t0003g0008	2	258	0.0078	974	c.113 others(993): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCACCATCCCCCATCCTATCCACCCAC CCACCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTAT CCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCTGCCAT CCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCA TCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCA TCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATC CACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTAC CTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTAC CCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCAC CCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTAT TCATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTAT CCATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACC CAGTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACC CTATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACC CTATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCAC CCACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTA TTCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTAC CCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(967): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCT ATCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACC ATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCC CACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCA TCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACC TACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACC CACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACC CATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACC CACCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCC TATCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCC ATCCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCT ATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACAC ACCCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATC CACCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACC CACACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACC CAGCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACC TATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01099.hp2 others(8): Show HG00544.hp1 HG00597.hp1 HG01099.hp2 HG02040.hp1 HG02129.hp1 HG02145.hp2 HG03654.hp2 HG03704.hp1 NA18747.hp1 NA18980.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0025 a0001c0001t0031	a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0173 others(8): Show a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0216 a0001c0001t0001g0251 a0001c0001t0003g0149 a0001c0001t0011g0070 a0001c0001t0025g0132 a0001c0001t0031g0141	11	258	0.0426	974	c.113 others(993): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTAT CCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCTGCCAT CCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCA TCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCA TCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATC CACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTAC CTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTAC CCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCAC CCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTAT TCATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTAT CCATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACC CAGTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACC CTATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACC CTATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCAC CCACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTA TTCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTAC CCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	376773	C C	CCCCACCC others(967): Show CCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCCGTGCCCCACCCAGCCT CTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CTCTGTACCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCC CCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	1	370	0.0027	974	c.-80 others(983): Show c.-804_-803insCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGG GTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGG GGCACGGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		748		chr19	TogoVar
THEG_chr19_356747_381026	377475	C C	CCCCCACC others(967): Show CCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC CTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACC CAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTG CCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0006	2	370	0.0054	974	c.-15 others(985): Show c.-1506_-1505insCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGA GAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGG AGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1450		chr19	TogoVar
THOP1_chr19_2780503_2820807	2818549	A A	ACAAGGGT others(967): Show ACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGA GCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAA GGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACAAGGATAACTAAGGTCAGAGCAGGTG ACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGA GCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAG AGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGG ATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTG ACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTA AGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGAACAGAGCAGG TGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACA GAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACT AAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03516.hp2 HG02723.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0037 a0001c0003t0006g0172 a0001c0003t0006g0037 a0001c0003t0006g0172	2	370	0.0054	974	c.52 others(985): Show c.5273_*5274insCAAGGGTGACTAAGAACAGAGCAGGTGACCAAGG ATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTG ACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGATAACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACT AAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAG GATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGT GACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCA GAGCAGGTGACAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTA AGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCA GAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGAC TAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAA GGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAG GTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2743		chr19	TogoVar
THOP1_chr19_2780503_2820807	2818549	A A	ACAAGGGT others(967): Show ACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGA GCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAA GGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACAAGGATAACTAAGGTCAGAGCAGGTG ACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGA GCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAG AGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGG ATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTG ACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTA AGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGAACAGAGCAGG TGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACA GAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACT AAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0037 a0001c0003t0006g0037	1	370	0.0027	974	c.52 others(985): Show c.5273_*5274insCAAGGGTGACTAAGAACAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTG ACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGATAACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACT AAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAG GATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGT GACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCA GAGCAGGTGACAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTA AGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCA GAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGAC TAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAA GGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAG GTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2743		chr19	TogoVar
TMED2_chr12_123579552_123603582	123581928	G G	GAGTTCAT others(967): Show GAGTTCATTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCG TAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTAT AGAGAAAGAAATAAGGGGACCCGGGGAACCAGCGTTCAGCATATGGAGGA TCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGT TTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGG GTCAGCAGACAAACACGTGAACAAAGGTCTTTGCATCATAGACAATGTAA AGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAATG CTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGC GGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGA GACATTCCATTGCCCAGGGACGGGCAGGAGACAGATGCCTTCCTCTTGTC TCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACAG ACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCAC GAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTG GCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTG GGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCGTGCTGCCTT CAAGCATCTGTTTAACAAAGCACATCCTGCACCGCCCTTAATCCATTTAA CTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGTAAG GTCATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAA CAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAA TCTGATCTCTCTTGCTTTTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01168.hp2 others(6): Show HG00099.hp1 HG00140.hp1 HG01168.hp2 HG01257.hp2 HG01515.hp2 HG01517.hp1 HG01981.hp1 NA18960.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0028 a0001c0001t0006g0029 others(4): Show a0001c0001t0006g0015 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039	9	284	0.0317	974	c.-27 others(985): Show c.-2709_-2708insAGTTCATTGTAGGGGTGGGTTGCCCCTACACACC TGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGAC ACAGAGACAAAGTATAGAGAAAGAAATAAGGGGACCCGGGGAACCAGCGT TCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTG ATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGAC AATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTTGCA TCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACAC ATAAACATCTCAATGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCAC CTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAAT CGGGTTTTATACCGAGACATTCCATTGCCCAGGGACGGGCAGGAGACAGA TGCCTTCCTCTTGTCTCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAA TCCTCCTCAGCACAGACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGG TCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAAC CTTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCA GTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAA GGAGCGTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCCTGCACCGC CCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCAC GGGGTTGGGGGTAAGGTCATAGATTAACAGAATCTCAAGGCAGAAGAATT TTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACA CAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCAC	TMED2	ENSG00000086598.11	transcript	ENST00000262225.8	protein_coding		2623		chr12	TogoVar
TMED2_chr12_123579552_123603582	123581928	G G	GAGTTCAT others(967): Show GAGTTCATTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCG TAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTAT AGAGAAAGAAATAAGGGGACCCGGGTAACCAGCGTTCAGCATATGGAGGA TCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGT TTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGG GTCAGCAGACAAACACGTGAACAAAGGTCTTTGCATCATAGACAATGTAA AGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAATG CTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGC GGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGA GACATTCCATTGCCCAGGGACGGGCAGGAGACAGATGCCTTCCTCTTGTC TCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACAG ACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCAC GAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTG GCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTG GGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCGTGCTGCCTT CAAGCATCTGTTTAACAAAGCACATCCTGCACCGCCCTTAATCCATTTAA CTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGTAAG GTCATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAA CAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAA TCTGATCTCTCTTGCTTTTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	284	0.0035	974	c.-27 others(985): Show c.-2709_-2708insAGTTCATTGTAGGGGTGGGTTGCCCCTACACACC TGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGAC ACAGAGACAAAGTATAGAGAAAGAAATAAGGGGACCCGGGTAACCAGCGT TCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTG ATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGAC AATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTTGCA TCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACAC ATAAACATCTCAATGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCAC CTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAAT CGGGTTTTATACCGAGACATTCCATTGCCCAGGGACGGGCAGGAGACAGA TGCCTTCCTCTTGTCTCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAA TCCTCCTCAGCACAGACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGG TCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAAC CTTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCA GTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAA GGAGCGTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCCTGCACCGC CCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCAC GGGGTTGGGGGTAAGGTCATAGATTAACAGAATCTCAAGGCAGAAGAATT TTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACA CAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCAC	TMED2	ENSG00000086598.11	transcript	ENST00000262225.8	protein_coding		2623		chr12	TogoVar
TMED2_chr12_123579552_123603582	123581928	G G	GAGTTCGT others(967): Show GAGTTCGTTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCG TAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTAT AGAGAAAGAAATAAGGGGACCCAGGGAACCAGCGTTCAGCATATGGAGGA TCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGT TTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGG GTCAGCAGACAAACACGTGAACAAAGGTCTTTGCATCATAGACAATGTAA AGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAATG CTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGC GGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGA GACATTCCATTGCCCAGGGACGGGCAGGAGACAGATGCCTTCCTCTTGTC TCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACAG ACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCAC GAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTG GCTTTCCTAGGCAGAAGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTG GGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCGTGCTGCCTT CAAGCATCTGTTTAACAAAGCACATCCTGCACCGCCCTTAATCCATTTAA CTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGTAAG GTCATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAA CAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAA TCTGATCTCTCTTGCTTTTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03540.hp1 NA18522.hp1 others(3): Show HG01243.hp2 HG03540.hp1 NA18522.hp1 NA19030.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0014 a0001c0001t0004g0031 a0001c0001t0004g0032 others(1): Show a0001c0001t0004g0014 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0007g0014	6	284	0.0211	974	c.-27 others(985): Show c.-2709_-2708insAGTTCGTTGTAGGGGTGGGTTGCCCCTACACACC TGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGAC ACAGAGACAAAGTATAGAGAAAGAAATAAGGGGACCCAGGGAACCAGCGT TCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTG ATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGAC AATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTTGCA TCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACAC ATAAACATCTCAATGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCAC CTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAAT CGGGTTTTATACCGAGACATTCCATTGCCCAGGGACGGGCAGGAGACAGA TGCCTTCCTCTTGTCTCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAA TCCTCCTCAGCACAGACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGG TCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAAC CTTGGACAATACCTGGCTTTCCTAGGCAGAAGTCCCTGCGGCCTTCCGCA GTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAA GGAGCGTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCCTGCACCGC CCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCAC GGGGTTGGGGGTAAGGTCATAGATTAACAGAATCTCAAGGCAGAAGAATT TTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACA CAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCAC	TMED2	ENSG00000086598.11	transcript	ENST00000262225.8	protein_coding		2623		chr12	TogoVar
TMED2_chr12_123579552_123603582	123581928	G G	GAGTTCGT others(967): Show GAGTTCGTTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCG TAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTAT AGAGAAAGAAATAAGGGGACCCGGGGAACCAGCGTTCAGCATATGGAGGA TCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGT TTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGG GTCAGCAGACAAACACGTGAACAAAGGTCTTTGCATCATAGACAATGTAA AGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAATG CTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGC GGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGA GACATTCCATTGCCCAGGGACGGGCAGGAGACAGATGCCTTCCTCTTGTC TCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACAG ACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCAC GAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTG GCTTTCCTAGGCAGAAGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTG GGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCGTGCTGCCTT CAAGCATCTGTTTAACAAAGCACATCCTGCACCGCCCTTAATCCATTTAA CTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGTAAG GTCATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAA CAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAA TCTGATCTCTCTTGCTTTTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01256.hp1 HG02109.hp1 others(21): Show HG01109.hp2 HG01256.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1 HG03942.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0023	a0001c0001t0003g0035 a0001c0001t0004g0006 a0001c0001t0004g0013 others(7): Show a0001c0001t0003g0035 a0001c0001t0004g0006 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0007g0010 a0001c0001t0007g0013 a0001c0001t0014g0006 a0001c0001t0023g0033	24	284	0.0845	974	c.-27 others(985): Show c.-2709_-2708insAGTTCGTTGTAGGGGTGGGTTGCCCCTACACACC TGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGAC ACAGAGACAAAGTATAGAGAAAGAAATAAGGGGACCCGGGGAACCAGCGT TCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTG ATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGAC AATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTTGCA TCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACAC ATAAACATCTCAATGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCAC CTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAAT CGGGTTTTATACCGAGACATTCCATTGCCCAGGGACGGGCAGGAGACAGA TGCCTTCCTCTTGTCTCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAA TCCTCCTCAGCACAGACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGG TCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAAC CTTGGACAATACCTGGCTTTCCTAGGCAGAAGTCCCTGCGGCCTTCCGCA GTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAA GGAGCGTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCCTGCACCGC CCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCAC GGGGTTGGGGGTAAGGTCATAGATTAACAGAATCTCAAGGCAGAAGAATT TTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACA CAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCAC	TMED2	ENSG00000086598.11	transcript	ENST00000262225.8	protein_coding		2623		chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747310	C C	CTGGGGTA others(967): Show CTGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	314	0.0032	974	c.189 others(991): Show c.189-1016_189-1015insTGGGGTAAAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM63B_chr6_44122554_44160519	44146439	G G	GGAGATGT others(967): Show GGAGATGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTATTTT TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCAT AGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCT CTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCC CTGGGTACTTAAGATTAGGGAGTGGTGATGACTCTCAACGAGCATGCTGC CCTCAAGCATCTGTTCAACAAAGCACATCTTGCACCGCCCTTAATCCATC TAACCCTGAGTGGACACAGCACATGTCTCAGAGAGCACAGGGTTGGGGAT AAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACA GAACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCAGC AACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCC ACAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCAC ACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCCGGCAGAAGTGCCCCTCACCTCCCAGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCC AGGCAGAGGGGCTTCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCTGGATAGGGCGGCTGGCCGGGCGGGGGGCTGTTCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGTGCTGACCCCCCCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0216 a0001c0004t0002g0216	1	402	0.0025	974	c.783 others(989): Show c.783-391_783-390insTTTTTTTTTTTTTTTTTTTTATTTTTTATT TTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTC ATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGT CTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGT CCCTGGGTACTTAAGATTAGGGAGTGGTGATGACTCTCAACGAGCATGCT GCCCTCAAGCATCTGTTCAACAAAGCACATCTTGCACCGCCCTTAATCCA TCTAACCCTGAGTGGACACAGCACATGTCTCAGAGAGCACAGGGTTGGGG ATAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTA CAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCA GCAACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATT CCACAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGC ACACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCCGGCAGAAGTGCCCCTCACCTCCCAGATGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGG CCAGGCAGAGGGGCTTCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCTGGATAGGGCGGCTGGCCGGGCGGGGGGCTGTTCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGTGCTGACCCCCCCCGAGATGTGGGTTTTTTT	TMEM63B	ENSG00000137216.19	transcript	ENST00000323267.11	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(967): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCC TTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	326	0.0031	974	c.483 others(989): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCC CTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTTCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(967): Show ATATATATCACATATGTGATATATATCATATATATCACATATATGATATA TATCATATGTGATATATATCATATATATCACATATATGATATATATCATA TATGTGATATATATCATATATATCACATATATGATATATATCATATATGT GATATATATCACATATATCAAATATATGATATATATCATATATGTGATAT ATATCACATATGTGATATATATCATATCACATATCATATGACATATCATA TCACATATCACATATCACATATCACATATCACATATCATATGATATATAT CACATGTGATATATAGCATATGTGATATATATCATATATATCACATGTGA TATATAGCATATGTGATATATATCATATATATCACATATGATATATAGCA TATGTGATATATATCATATATATCACATATGCTATATAGCATATGTGATA TATATCATATATATCACATATGCTATATAGCATACGTGATATATATCATA TATATCATATATGATGTATAGCATGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATATA TCACATGTGATATATAGCATATGTGATATATATGATATATGTGATATATA TCATATGTGATATATATGATATATATCACATATATATGATATATATCACA TATATATCATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	350	0.0029	974	c.-34 others(985): Show c.-3475_-3474insTATATATCACATATGTGATATATATCATATATAT CACATATATGATATATATCATATGTGATATATATCATATATATCACATAT ATGATATATATCATATATGTGATATATATCATATATATCACATATATGAT ATATATCATATATGTGATATATATCACATATATCAAATATATGATATATA TCATATATGTGATATATATCACATATGTGATATATATCATATCACATATC ATATGACATATCATATCACATATCACATATCACATATCACATATCACATA TCATATGATATATATCACATGTGATATATAGCATATGTGATATATATCAT ATATATCACATGTGATATATAGCATATGTGATATATATCATATATATCAC ATATGATATATAGCATATGTGATATATATCATATATATCACATATGCTAT ATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCATAC GTGATATATATCATATATATCATATATGATGTATAGCATGATATATATGC TATATATCACATGTGATATATATGCTATATATCACATGTGATATATATGC TATATATCACATGTGATATATATGCTATATATCACATGTGATATATATGC TATATATCACATGTGATATATATGCTATATATCACATGTGATATATATGC TATATATCACATGTGATATATATGCTATATATCACATGTGATATATATGC TATATATCACATGTGATATATATGCTATATATCACATGTGATATATATGC TATATATCACATGTGATATATATGCTATATATCACATGTGATATATATGC TATATATCACATATATCACATGTGATATATAGCATATGTGATATATATGA TATATGTGATATATATCATATGTGATATATATGATATATATCACATATAT ATGATATATATCACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF554_chr19_2814868_2841735	2818549	A A	ACAAGGGT others(967): Show ACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGA GCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAA GGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACAAGGATAACTAAGGTCAGAGCAGGTG ACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGA GCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAG AGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGG ATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTG ACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTA AGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGAACAGAGCAGG TGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACA GAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACT AAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0048 a0001c0003t0010g0048	1	410	0.0024	974	c.-15 others(985): Show c.-1523_-1522insCAAGGGTGACTAAGAACAGAGCAGGTGACCAAGG ATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTG ACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGATAACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACT AAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAG GATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGT GACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCA GAGCAGGTGACAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTA AGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCA GAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGAC TAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAA GGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAG GTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1318		chr19	TogoVar
ZNF554_chr19_2814868_2841735	2818549	A A	ACAAGGGT others(967): Show ACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGA GCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAA GGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACAAGGATAACTAAGGTCAGAGCAGGTG ACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGA GCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAG AGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGG ATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTG ACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTA AGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGAACAGAGCAGG TGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACA GAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACT AAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0049 a0001c0003t0010g0049	1	410	0.0024	974	c.-15 others(985): Show c.-1523_-1522insCAAGGGTGACTAAGAACAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTG ACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGATAACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGT GACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACT AAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAG GATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGT GACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCA GAGCAGGTGACAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTA AGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCA GAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGAC TAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAA GGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAG GTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1318		chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(968): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCCCCTTC TCCTCCTCCCCCTCCTCCTCCCCTCTCCACCTCCCCCTCTCCTCCTTCCC CTCTCCTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCC TTCCCCACTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCCTCC CCTCCTCCCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTCCTC TCCTCCTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCCTCT TCCTCTCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCCTCC TCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCTCCTCT TCCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTCCCCCTC CTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTT CCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCTT CCTCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCT TCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCCTCCTCTCTTC CTCTCCTCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTCCTCTCC TCTGCCTCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTCCTCCTT CCCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTCCTTCTT GTCTCCTCCCCGTCCTCTCCTTCCCTCTTCCTCCTCCACTCCTCCTCCTC TCCTCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCCTCCACTC CTCCTCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0211 a0003c0003t0005g0211	1	218	0.0046	975	c.108 others(992): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAGGACGGGGAGGAGACAA GAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGGGAA GGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAGAGG AGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGAGGA AGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAAG GAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAGGAA GAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGAA GGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGA GGGGGAGGAGAGGAGGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAG AGGAGAGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGG AGGAGAGGAGGACGAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGGAAG AGGAGAGGAGGAGAGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGGAGA GGAGGAGGAGGAGAGGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAGGGG AGGGGGAGGAGGAGAGGGGGAGGAGGATGGGGGAGGAGGAGTGGGGAAGG AGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGAGGG GAAGGAGGAGAGGGGGAGGTGGAGAGGGGAGGAGGAGGGGGAGGAGGAGA AGGGGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAGGAGCAGAAG AGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGAGGAGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(968): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCCACCTCCTCCTCCCTTC TCCTCCTCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCCTCCTTCCC CTCTCCTCCTCCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCCTCCT TCCCTCTCCTCCTCCCCCATCCTCCTCCCCTCTCCTCCTCCCCCTCCCCT CCTCCCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTCCTCTCC TCCTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCTCTCCTCTTCCT CTCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCT TCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTT CCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTCCCCCTCC TCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTTC CTCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCTTCC TCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTC TCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCCTCCTCTCTTCCT CTCCTCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTCCTCTCCTC TGCCTCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTCCTCCTTCC CTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCTCCTCTCCTCCTTCTTGTC TCCTCCCCGTCCTCTTCTCCTTCCCTCTTCCTCCTCCACTCCTCCTCCTC TCCTCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCCTCCACTC CTCCTCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0038 a0003c0003t0002g0038	1	218	0.0046	975	c.108 others(992): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGGG AAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAGA GGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGAG GAAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGA AGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAGG AAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGAGGA AGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGG AGGGGGAGGAGAGGAGGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAA GAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAG GAGGAGGAGAGGAGGACGAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAG GAAGAGGAGAGAGGAGAGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGG AGAGGAGGAGGAGGAGAGGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAG GGGAGGGGGAGGAGGAGAGGGGAGGAGGATGGGGGAGGAGGAGAGGGAAG GAGGAGAGGGGGAGGAGGAGAGGGGAGGAGGAGGGGGGAGGAGGAGAGGG GAAGGAGGAGAGGGGGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGGAGA AGGGAGGAGGAGGTGGGAGAGGAGGAGGAGAGGAGGAAGAGGAGCAGAAG AGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGAGGAGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(968): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATATTATATATTACATATGTAATAT ATATTACATATGTAATATATATTATATATGTAATATATATTACATATATT ACATATGTAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATATTACATATGTAATATA TATTATATATGTAATATATAATATATATTATATATGTAATATATATTACA TATGTAATATATATTATATATGTAATATATATTATATATGTAATATATAA TATATATTATATATGTAATATATATTATATATGTAATATATATTATATAT GTAATATATTACATATATAATATATATTACATATATAATATATATTACAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATTATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTAATA TATGTAATATATATTATATATGTAATATATGTAATATATATTATATATGT AATATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18981.hp1 NA18970.hp2 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0051 a0002c0002t0001g0029 a0002c0002t0001g0051	2	236	0.0085	975	c.342 others(996): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATATTACATATGTAATATATATTATATATGTAATATATAATATATA TTATATATGTAATATATATTACATATGTAATATATATTATATATGTAATA TATATTATATATGTAATATATAATATATATTATATATGTAATATATATTA TATATGTAATATATATTATATATGTAATATATTACATATATAATATATAT TACATATATAATATATATTACATATGTAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATTATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTAATA TATGTAATATATATTATATATGTAATATATGTAATATATATTATATATGT A	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(968): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGTAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGCAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATTACATATGTAATATATATTATATATGTAATATATATTACATATATTAC ATATGTAATATATAATATATATTATATATGTAATATATATTACATATGTA ATATATATTATATATGTAATATATAATATATATTATATATGTAATATATA TTATATATGTAATATATATTATATATGTAATATATAATATATATTATATA TGTAATATATAATATATATTATATATGTAATATATATTATATATGTAATA TATAATATATATTATATATGTAATATATATTATATATGTAATATATTACA TATATAATATATATTACATATATAATATATATTATATATGTAATATATAT TATATATGTAATATATAATATATATTATATATGTAATATATATTATATAT ATAATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATGTAATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTAATA TATGTAATATATATTATATATGTAATATATGTAATATATATTATATATGT AATATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0114 a0002c0002t0005g0114	1	236	0.0042	975	c.342 others(996): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGTAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGCAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATTACATATGTAATATATATTATATAT GTAATATATATTACATATATTACATATGTAATATATAATATATATTATAT ATGTAATATATATTACATATGTAATATATATTATATATGTAATATATAAT ATATATTATATATGTAATATATATTATATATGTAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATATTATATATGTAATATATAATATATATTATATATGTAATATA TATTATATATGTAATATATTACATATATAATATATATTACATATATAATA TATATTATATATGTAATATATATTATATATGTAATATATAATATATATTA TATATGTAATATATATTATATATATAATATATATTATATATGTAATATAT ATTATATATATTATATATGTAATATATATTATATATGTAATATATGTAAT ATATATTATATATGTAATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTAATA TATGTAATATATATTATATATGTAATATATGTAATATATATTATATATGT A	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(968): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTA CGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACG GCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCG TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTC CCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGG GTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCG TCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGT ACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18966.hp1 NA19062.hp1 NA18947.hp1 NA18966.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0251 a0001c0001t0004g0257 a0001c0001t0004g0241 a0001c0001t0004g0251 a0001c0001t0004g0257	3	400	0.0075	975	c.172 others(992): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC ACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG GGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGT GACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTAC GGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(968): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTA CGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACG GCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCG TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTC CCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGG GTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCG TCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGT ACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	400	0.0025	975	c.172 others(992): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC GCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG GGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGT GACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTAC GGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(968): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCC CTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCC CTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCC TCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCC CCTCCTCCTCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCCTCTCT ACCTCTCCCCCTCTCCTCTCCCCGTCTCCCTCTCTCCCCTCGTCCTCTCG TCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCT CCCTCTCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCC CCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCT CTCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCA TCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCC CTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCC CCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCCTCTCCT CCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCC CCATCTCCCCCCTCTCTCCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCT CCCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	320	0.0031	975	c.380 others(992): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCCTCTCCCCCCTCCC CCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCAC ATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTC CTCTCCCCCTCTCCCCCTCCTCCTCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCTCCCCCTTTCTTCCTCTCC CCCTCTCCCCTCTCTACCTCTCCCCCTCTCCTCTCCCCGTCTCCCTCTCT CCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTC CTCCTGTCCCTCTCTCCCTCTCCCCTCCTCCTCTCCCTCTCCCCCTCCCC CTCTTCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTC TCTCCCTCTCCTCCTCTCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCT CTTCCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTC TTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCC CTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCC CCTCCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCC TCTCTCCCTCTTCCCCCATCTCCCCCCTCTCTCCTCCCCCTCTCCCCCTC CCTCTCTCCCTCTCTCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(968): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTC TCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCA TCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCC CTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCC CCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTC CTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCC ATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTC CCCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00738.hp2 others(38): Show HG00423.hp2 HG00558.hp2 HG00738.hp2 HG01099.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp2 HG03017.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA18983.hp2 NA18993.hp1 NA18999.hp2 NA19007.hp1 NA19086.hp1 NA19086.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0098 others(38): Show a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0107 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0092 a0001c0001t0003g0096 a0001c0001t0003g0144 a0001c0001t0003g0163 a0001c0001t0003g0199 a0001c0001t0003g0211 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0250 a0001c0001t0003g0261 a0001c0001t0003g0270 a0001c0001t0003g0317 a0001c0001t0007g0062 a0001c0001t0010g0229 a0001c0001t0010g0230 a0001c0001t0010g0286 a0001c0001t0014g0165	41	320	0.1281	975	c.380 others(992): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTTCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCT CTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCT CTTCCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTC TTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCC CTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCC CCTCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCT CTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCC CTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(968): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCTTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTC TCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCA TCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCC CTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCC CCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTC CTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCC ATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTC CCCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	2	320	0.0063	975	c.380 others(992): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCT TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTTCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCT CTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCT CTTCCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTC TTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCC CTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCC CCTCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCT CTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCC CTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(968): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCTCCCCCTCCCT CTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTC TCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCT GTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCT CTCCCCCTCTCCCCTCTCCCCCCTCCCCTCTCCCTCTCCCTCACGTCCTC TCTCTTCCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCC TCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTC TCTCTCTCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCT CTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCT CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCT CTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCT CTCTCCCTCTCTCCCTCTCCCCCCCTCTCCCCTCTCTCCCTCTCCTCCTC TCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCA TCTCCCTCTCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCC TCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCC CATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCC TCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCA TCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCC CCCTCCCCCTCCCTCTCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	320	0.0031	975	c.380 others(992): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCAT CCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCC TTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACAT CCTCTCTCTCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCCCCTCTCCCT CTCCCTCACGTCCTCTCTCTTCCCCCCCTCCCCCTCCCTCTCCCCTTCCT CTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCT CTCCCTCACGTCCTCTCTCTCTCCCCTCTCCCCCTTTCTTCCTCTCCCCC TCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCC TCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCC TGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTC TTCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCCTCTCCCCTCT CTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCT CTTCCCCTCTCCCCATCTCCCTCTCCCCCCTTCTCCCTCTCCCACCCTCT TCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCC TCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCC CTCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTC TCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCC TCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(968): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCTCT CCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCT CTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTC TCCCTCTCTCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCTTCCCCTCTCC CCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCC CCCTCTCTCCCCTCTCCCTCTCCCCCCCTCCCTCTCTCCCTCACGTCCTC TCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCC TCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTC TCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACC TCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCC TCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCC TCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCC TCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCT CCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCAT CTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCC TCCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCC CCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTC CTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCC ATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTC CCCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	320	0.0031	975	c.380 others(992): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCAT CCCCCTCCCCCTCTCTCCCTCTCTCCTCCCCCTCCCCCTCCCCCCCCCTC CCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTC ACATCCTCTCTCTCCCCCTCTCTCCCCTCTCCCTCTCCCCCCCTCCCTCT CTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCT CTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCT CTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCC CTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCC CTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTC CTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCT CTTCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTC TCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTC TTCCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCT TCCTCTCCCTCTCCCTCCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCC CTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCC CCTCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCT CTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCC CTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CUX2_chr12_111029165_111355554	111325978	G G	GGGTTTTG others(968): Show GGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAG TGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGGGGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATA GTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGG GGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTA TAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTGATGGGGGA GGGGTGGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTAT AGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAG GGGTGGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTATA GTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAG TGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTAT AGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGGGAGG GGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTA TAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGA GGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTT TATAGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGGG AGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTT TATAGTGTTGTGGTGGGGGAGGGGTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	100	0.0100	975	c.292 others(994): Show c.2926+3417_2926+3418insTGTTGGGGGAGGGGTGGGTTTTGTTT ATAGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGGGGTGGGGGA GGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTT TATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTG TTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTGATGG GGGAGGGGTGGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTGT TTATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGG GGAGGGGTGGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTGTT TATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAG GGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTT ATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGG AGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGT TTATAGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTG TTTATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGG GGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTT TGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTG GGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTT TGTTTATAGTGTTGTGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 6036 hits)