Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TERT_chr5_1248167_1300068	1273520	A A	ACATCAGA others(303): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0290 a0001c0003t0001g0290	1	392	0.0026	310	c.228 others(329): Show c.2287-1241_2287-1240insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376746	G G	GCCCCACC others(303): Show GCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTACCCCCACCCAGCCTCTCCCCCCCTGTACCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	370	0.0027	310	c.-77 others(319): Show c.-777_-776insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGG GGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGC ACACGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		721		chr19	TogoVar
THEG_chr19_356747_381026	377288	C C	CTGTGCCC others(303): Show CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0253 a0002c0002t0001g0253	1	370	0.0027	310	c.-13 others(321): Show c.-1319_-1318insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1263		chr19	TogoVar
THSD7A_chr7_11365365_11837198	11786610	T T	TGCCTCGC others(303): Show TGCCTCGCTCTAACTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG03130.hp2 others(1): Show HG02109.hp1 HG02280.hp2 HG03130.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0014 a0001c0042 others(1): Show a0001c0002 a0001c0014 a0001c0042 a0002c0005	a0001c0002t0047 a0001c0014t0038 a0001c0042t0031 others(1): Show a0001c0002t0047 a0001c0014t0038 a0001c0042t0031 a0002c0005t0014	a0001c0002t0047g0032 a0001c0014t0038g0062 a0001c0042t0031g0033 others(1): Show a0001c0002t0047g0032 a0001c0014t0038g0062 a0001c0042t0031g0033 a0002c0005t0014g0063	4	180	0.0222	310	c.190 others(329): Show c.190+45146_190+45147insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAGAAGTTAGAGCGAGGC	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
TMEM120B_chr12_121707752_121787068	121747937	G G	GCTGGGGT others(303): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0114 a0001c0001t0083g0114	1	314	0.0032	310	c.189 others(325): Show c.189-368_189-367insTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134607627	G G	GCTGGTGA others(303): Show GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA CAGACCTTGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCC CGAGAACTGTA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	222	0.0045	310	c.323 others(329): Show c.323-55537_323-55536insTACAGTTCTCGGGGTCTGTCCTTTTC ACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCAAGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCAC CAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAG	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM200A_chr6_130361017_130448067	130389444	G G	GAAAGAAG others(303): Show GAAAGAAGAGGTTATCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGG CAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0235 a0004c0009t0003g0235	1	314	0.0032	310	c.-17 others(327): Show c.-17+4222_-17+4223insCAGCACTTTGGGAGGCCGAGGCGGGTGG ATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGG AAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCGCAGTCCG GCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAGAGGTTAT	TMEM200A	ENSG00000164484.12	transcript	ENST00000296978.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM245_chr9_109010135_109124947	109027239	T T	TAAAGAGC others(303): Show TAAAGAGCAGTAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGTGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0116 a0003c0004t0116	a0003c0004t0116g0342 a0003c0004t0116g0342	1	422	0.0024	310	c.259 others(329): Show c.2594+6067_2594+6068insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCACCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTTACTGCTCTTT	TMEM245	ENSG00000106771.13	transcript	ENST00000374586.8	protein_coding	17/17			chr9	TogoVar
TMEM255B_chr13_113754226_113821995	113788047	A A	AGTGGGGA others(303): Show AGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCA GAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGG TGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGA AGGCGGAGGGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18948.hp1 HG02735.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0092 a0001c0001t0006 a0001c0001t0092	a0001c0001t0006g0198 a0001c0001t0092g0128 a0001c0001t0006g0198 a0001c0001t0092g0128	2	260	0.0077	310	c.253 others(327): Show c.253-7055_253-6746dupAGGGGAAGGCGGAGGGGGTGGGGATGGG CAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGG GGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCA GAGGGGAAGGCGGAGGGGGTGGGGATGGGCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(303): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATATATATATTTTTATATATTTATAT ATAAATATATATTCTTTTATATATTTATATATATATTTATATATAAATAT ATATTCTTTTATATATATATATAAATATATATTCTTTTATATATTTATAT ATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTAT ATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0044 a0001c0001t0013g0044	1	348	0.0029	310	c.11 others(323): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATATATATAAATATATAAAAATATATATTTATATATAAATATATAAAAG AATATATATTTATATATAAATATATAAAAGAATATATATGTATATATAAA TATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302747	A A	ATAAATAT others(303): Show ATAAATATATATTCTTTTATATATTTATATATAAATATATATTATTTTAT ATATTTATATATAAATATATTTTATATATTTATATATAAATATATATTTT TATATATTTATATATAAATATATATTCTTTTATATATTTATATATATATT TATATATAAATATATATTCTTTTATATATTTATTATAAATATATATTCTT TTATATATTTATATATAAATATACTTTTATATATTTATATATAAATATAT ATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTTATA TATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	348	0.0029	310	c.11 others(323): Show c.11212_*11213insGTATATATATATATAAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATA TAAAAGTATATTTATATATAAATATATAAAAGAATATATATTTATAATAA ATATATAAAAGAATATATATTTATATATAAATATATATATAAATATATAA AAGAATATATATTTATATATAAATATATAAAAATATATATTTATATATAA ATATATAAAATATATTTATATATAAATATATAAAATAATATATATTTATA TATAAATATATAAAAGAATATATATTTA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3441		chr8	TogoVar
TMPRSS9_chr19_2355265_2431261	2377545	C C	CTCTCCCC others(303): Show CTCTCCCCTCTCTCTCTCCTCTCCCCTCCCCTCTCCCCCTTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCCTCTCCCTCCCCTTCTCTC TCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCC TCTCCTCCCCTCTCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCTCGCCC TTCCCCTCCCTCGTCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCT CTCCCTCCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCC CTTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0002 a0019c0022t0002	a0019c0022t0002g0106 a0019c0022t0002g0106	1	114	0.0088	310	c.-25 others(329): Show c.-25-12214_-25-12213insTCCCCTCTCTCTCTCCTCTCCCCTCC CCTCTCCCCCTTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTC CCCTCTCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCT CCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCTCTCCTCTCTCCT CCCCTCTCCCCTCCCTCGCCCTTCCCCTCCCTCGTCCCTTCCCCTCTTCC CTCCCCTCTCCCCTCTCCCCTCTCCCTCCCCCTCCCATCTCCCCTCTCAT CTCCCCTCTCCCCTCCTCTCCCTTCCCTCCCGTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTCCCT others(303): Show CCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTC CCTCTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCTCCCTTTCCT TCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCTGTTTCCTTTCC TCTCTCCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC GCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCC TCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCACCGTCTC CTTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG04204.hp1 others(3): Show HG01071.hp1 HG01106.hp1 HG04204.hp1 NA18970.hp1 NA18971.hp1 NA19079.hp2	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0003 a0006c0007 a0007c0008 a0003c0003 a0006c0007 a0007c0008	a0003c0003t0003 a0006c0007t0003 a0007c0008t0003 a0003c0003t0003 a0006c0007t0003 a0007c0008t0003	a0003c0003t0003g0004 a0003c0003t0003g0067 a0006c0007t0003g0018 others(3): Show a0003c0003t0003g0004 a0003c0003t0003g0067 a0006c0007t0003g0018 a0006c0007t0003g0042 a0006c0007t0003g0061 a0007c0008t0003g0027	6	114	0.0526	310	c.215 others(327): Show c.2154+882_2154+883insTCCCTCCCTTTCCTTTCCTCCCTCCCTC CCTTTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCCTCCCTCTCCTTCCC TCTCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCC CTCCCTCTGTTTCCTTTCCTCTCTCCCTTTCCTTCCCTTCCCTCCCTCCC TCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTC CTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTC CCTTCCCTCCCACCGTCTCCTTCCCTCCCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMX1_chr14_51235247_51262655	51252268	T T	TAAAGAAA others(303): Show TAAAGAAATCTTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(138): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02155.hp2 HG02258.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0002c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0004g0006 a0001c0001t0004g0014 a0001c0001t0004g0030 a0001c0001t0004g0042 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0117 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0012g0003 a0001c0001t0012g0019 a0001c0001t0020g0003 a0001c0001t0021g0003 a0002c0006t0001g0002	141	426	0.3310	310	c.665 others(327): Show c.665-2059_665-2058insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAAATCTTTCC	TMX1	ENSG00000139921.13	transcript	ENST00000457354.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
TOLLIP_chr11_1269371_1314632	1282436	A A	ATTGCGCA others(303): Show ATTGCGCACATGTACCCTAAAACTTAAAGTATAATTAAAATAAATAAATA AATAAAATAGGAAATTGTTTAGGAGAAATACCTAATGTTAAATGATGAGT CAATGGGTCCAGCACACCAACATGGCACACGGATACATATGTAACAAACC TGCACGTTGTGCACATGTACCCTAAAACTTAAAATATAATTAAGATAAAT AAATAAATAAAATAGGAAATTGTTTAGGAGAAATACCTAATGTTAAATGA CGAGTCAATGGGTGCAGCACACCAACATGGCACACGGATACATATGTAAC AAACCTGCACG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0083 a0001c0009t0017g0083	1	348	0.0029	310	c.610 others(327): Show c.610+3565_610+3566insCGTGCAGGTTTGTTACATATGTATCCGT GTGCCATGTTGGTGTGCTGCACCCATTGACTCGTCATTTAACATTAGGTA TTTCTCCTAAACAATTTCCTATTTTATTTATTTATTTATCTTAATTATAT TTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTA TCCGTGTGCCATGTTGGTGTGCTGGACCCATTGACTCATCATTTAACATT AGGTATTTCTCCTAAACAATTTCCTATTTTATTTATTTATTTATTTTAAT TATACTTTAAGTTTTAGGGTACATGTGCGCAA	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	5/5			chr11	TogoVar
TOMM7_chr7_22807974_22827849	22813860	A A	AAAATGTA others(303): Show AAAATGTAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC GGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp2 others(96): Show HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01358.hp2 HG01496.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02148.hp2 HG02293.hp2 HG02523.hp2 HG02738.hp2 HG03490.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143	99	420	0.2357	310	c.153 others(325): Show c.153-676_153-675insCTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGGGCTACATTT	TOMM7	ENSG00000196683.12	transcript	ENST00000358435.9	protein_coding	2/2			chr7	TogoVar
TPST2_chr22_26516996_26595132	26557749	C C	CAAAGAAG others(303): Show CAAAGAAGAGAGATGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0186 a0001c0005t0019g0186	1	400	0.0025	310	c.-16 others(331): Show c.-160-13075_-160-13074insTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCCCATCTCTCTTCTTT	TPST2	ENSG00000128294.16	transcript	ENST00000338754.9	protein_coding	1/6			chr22	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(303): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTAC ACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGT ACACATGTATATACGTATACATGTGTACACATGTATGTATGTGTATATAT GTATACATGTATATATGTATACATACACGCGCGTGTATATATACATACAC GCGCGTGTATATATGTATACATACACGCGCGTGTATATATGTATACATAC ACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0240 a0001c0001t0019g0240	1	388	0.0026	310	c.-23 others(327): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATATATACA CGCGCGTGTATGTATACATATATACATGTATACATATATACACATACATA CATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATA TACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTA TATACATGTGTACACATGTATACGTATATACATGTGTACACATGTAGATA CACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(303): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTAC ACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGT ACACATGTATGTATGTGTATATATGTATACATGTATATATGTATACATAC ACGCGCGTGTATATATACATACACGCGCGTGTATATATGTATACATACAC GCGCGTGTATATATGTATACATACACGCGCGTGTATATATGTATACATAC ACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0238 a0001c0001t0019g0238	1	388	0.0026	310	c.-23 others(327): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATACATATA TACACGCGCGTGTATGTATATATACACGCGCGTGTATGTATACATATATA CATGTATACATATATACACATACATACATGTGTACACATGTATACGTATA TACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTA TATACATGTGTACACATGTATACGTATATACATGTGTACACATGTAGATA CACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	139755504	A A	AAGGACAG others(303): Show AAGGACAGCAGGTCGCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCAG GTCGCAGGAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGG AGCCAGCGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGATG GGGTTAAGGACAGCAGGTCGCAGGAGAAGCCAGGGATTGGGGATGAGGAC AGCAGGTCGCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCATGTCGCA GGAGGAGCCAGGATTGGGGATGAGGACAGCATGTCGCAGGAGAAGCCAGG GTTTGGGGATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp1 HG02895.hp2 others(7): Show HG01109.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0008 a0001c0001t0029 a0001c0003t0005 others(6): Show a0001c0001t0008 a0001c0001t0029 a0001c0003t0005 a0001c0003t0014 a0001c0004t0004 a0001c0004t0028 a0001c0005t0008 a0001c0006t0005 a0001c0007t0015	a0001c0001t0008g0083 a0001c0001t0029g0077 a0001c0003t0005g0013 others(7): Show a0001c0001t0008g0083 a0001c0001t0029g0077 a0001c0003t0005g0013 a0001c0003t0014g0030 a0001c0004t0004g0094 a0001c0004t0028g0098 a0001c0005t0008g0065 a0001c0005t0008g0076 a0001c0006t0005g0017 a0001c0007t0015g0018	10	98	0.1020	310	c.305 others(331): Show c.3056-23303_3056-23302insCATCCCCAAACCCTGGCTTCTCCT GCGACATGCTGTCCTCATCCCCAATCCTGGCTCCTCCTGCGACATGCTGT CCTTATACCCCATCCCTGGCTCCTCCTGCGACCTGCTGTCCTCATCCCCA ATCCCTGGCTTCTCCTGCGACCTGCTGTCCTTAACCCCATCCCTGGCTCC TCCTGCGACCTGCTGTCCTCATCCCCAAACGCTGGCTCCTCCTGCGACCT GCTGTCCTCATCCCCAAACCCTGGCTCCTCCTGCGACCTGCTGTCCTTAT ACCCCATCCCTGGCTCCTCCTGCGACCTGCTGTCCT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	139755504	A A	AAGGACAG others(303): Show AAGGACAGCAGGTTGCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCAG GTCGCAGGAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGG AGCCAGCGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGATG GGGTTAAGGACAGCAGGTCGCAGGAGAAGCCAGGGATTGGGGATGAGGAC AGCAGGTCGCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCATGTCGCA GGAGGAGCCAGGATTGGGGATGAGGACAGCATGTCGCAGGAGAAGCCAGG GTTTGGGGATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG02717.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0013 a0001c0005t0027 a0001c0002t0013 a0001c0005t0027	a0001c0002t0013g0005 a0001c0005t0027g0080 a0001c0002t0013g0005 a0001c0005t0027g0080	2	98	0.0204	310	c.305 others(331): Show c.3056-23303_3056-23302insCATCCCCAAACCCTGGCTTCTCCT GCGACATGCTGTCCTCATCCCCAATCCTGGCTCCTCCTGCGACATGCTGT CCTTATACCCCATCCCTGGCTCCTCCTGCGACCTGCTGTCCTCATCCCCA ATCCCTGGCTTCTCCTGCGACCTGCTGTCCTTAACCCCATCCCTGGCTCC TCCTGCGACCTGCTGTCCTCATCCCCAAACGCTGGCTCCTCCTGCGACCT GCTGTCCTCATCCCCAAACCCTGGCTCCTCCTGCGACCTGCTGTCCTTAT ACCCCATCCCTGGCTCCTCCTGCAACCTGCTGTCCT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRIM49D2_chr11_89919064_89938063	89935248	A A	ATATTTGT others(303): Show ATATTTGTATATTTATATTTTATATAAAATATAATATACAAATATTTGTA TATTTATATTTTATATAAATATATAATATACAAATATTTGTATATTTATA TTTTATATAAATATATAATATACAAATATTTGTATATTTATATTTTATAT AAATATATAATATACAAATATTTGTATATTATATATTTTATATAAAATAT ATAATATACAAATATTTGTATATTATATATTTTATATAAAATATATAATA TACAAATATTTGTATATTATATATTTTATATAAAATATATAATATACAAA TATTTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0073 a0003c0004t0002g0073	1	256	0.0039	310	c.23 others(321): Show c.2363_*2364insTATTTGTATATTTATATTTTATATAAAATATAAT ATACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAAAT ATTTGTATATTTATATTTTATATAAATATATAATATACAAATATTTGTAT ATTTATATTTTATATAAATATATAATATACAAATATTTGTATATTATATA TTTTATATAAAATATATAATATACAAATATTTGTATATTATATATTTTAT ATAAAATATATAATATACAAATATTTGTATATTATATATTTTATATAAAA TATATAATATACAAATATTTATATAT	TRIM49D2	ENSG00000233802.8	transcript	ENST00000623787.3	protein_coding		2186		chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097570	T T	TGTGTATA others(303): Show TGTGTATATACATATATACATATACACACATGCGTGTATACACATATACA CACGTGCGTGTATACACATATACACACGTGCGTATATACACATATACACG CGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCG TATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATA CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	334	0.0030	310	c.-47 others(321): Show c.-4790_-4789insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGT ATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATAC GCACGCGTGTATATGTATATACGCACGCGTGTATATGTGTATATACGCAC GTGTGTATATGTGTATACACGCACGTGTGTATATGTGTATACACGCATGT GTGTATATGTATATATGTATATACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4764		chr20	TogoVar
TRPC7_chr5_136207745_136370545	136225530	G G	GCTCTGTA others(303): Show GCTCTGTAGGATGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCATTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02886.hp1 others(5): Show HG01884.hp1 HG02615.hp2 HG02886.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0051 a0001c0001t0001g0171 a0001c0001t0001g0172 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0002t0002g0190	8	258	0.0310	310	c.226 others(327): Show c.2263-177_2263-176insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAACATCCTACAGAG	TRPC7	ENSG00000069018.19	transcript	ENST00000513104.6	protein_coding	9/11			chr5	TogoVar
TSPAN9_chr12_3072379_3291559	3268729	C C	CGTGCATT others(303): Show CGTGCATTTCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTGTC TGTGTTCCTGCAGCCTGCCCTCTGTGCGTTCCTGCAGCCTGCCCTCTCTG TGTTCCTGCAGCCTGCCCTCCATGTGTTCCTGCAGCCTGCCCTCCGTGCA TTCCTGCAGCCTGCCCTCTGTGCGTTCCTGCAGCCTGCCCTCTCTGTGTT CCTGCAGCCTGCCCCCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCC TGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCATGTGTTCCTG CAGCCTGCCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19240.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0109 a0001c0002t0062 a0001c0002t0109	a0001c0002t0062g0090 a0001c0002t0109g0286 a0001c0002t0062g0090 a0001c0002t0109g0286	2	288	0.0069	310	c.64- others(325): Show c.64-9692_64-9691insGTGCATTTCTGCAGCCTGCCCTCTCTGTGT TCCTGCAGCCTGCCCTGTCTGTGTTCCTGCAGCCTGCCCTCTGTGCGTTC CTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCATGTGTTCCT GCAGCCTGCCCTCCGTGCATTCCTGCAGCCTGCCCTCTGTGCGTTCCTGC AGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCCCTCTGTGTTCCTGCAG CCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCC TGCCCTCCATGTGTTCCTGCAGCCTGCCCT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8			chr12	TogoVar
TTLL11_chr9_121810674_122098308	121971182	C C	CTGCCCGG others(303): Show CTGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCC GTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG01106.hp1 others(6): Show HG00280.hp2 HG00597.hp1 HG01106.hp1 HG01261.hp1 HG02258.hp1 HG03239.hp1 HG03710.hp2 HG03942.hp1 HG04204.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0002 a0005c0004 others(1): Show a0001c0001 a0003c0002 a0005c0004 a0006c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0026 a0001c0001t0056 a0003c0002t0005 a0005c0004t0033 a0006c0018t0048	a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0003g0099 others(6): Show a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0003g0099 a0001c0001t0021g0061 a0001c0001t0026g0128 a0001c0001t0056g0117 a0003c0002t0005g0169 a0005c0004t0033g0034 a0006c0018t0048g0174	9	174	0.0517	310	c.148 others(329): Show c.1481+2826_1481+2827insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGG GCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCA	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TUBGCP3_chr13_112480011_112593153	112540342	C C	CCTATGAG others(303): Show CCTATGAGCCTTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACG TCAATGTAGTAGCCTATGAGCCTTCAGGTGGTCTTGGGAAAGGACACCTG GGAATGAGGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGATCTTGGG AAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGCCCTATGAGCATTC AGATGATCTTGGGAAAGGACACCTGGGAATGAGGATGTCAATATAGTAGC CTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACGT CAATGTAGTAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	312	0.0032	310	c.133 others(329): Show c.1335+5356_1335+5357insCTACTACATTGACGTCATCACTCCCA GGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTATATTGACA TCCTCATTCCCAGGTGTCCTTTCCCAAGATCATCTGAATGCTCATAGGGC TACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCCAAGATCACCTGA ATGCTCATAGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCC AAGACCACCTGAAGGCTCATAGGCTACTACATTGACGTCATCACTCCCAG GTATCCTTTCCCAAGACCACCTGAAGGCTCATAG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
TWIST2_chr2_238843085_238915534	238870178	A A	ACACACAC others(303): Show ACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	338	0.0030	310	c.35 others(329): Show c.35+21452_*35+21453insCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870516	A A	ACACACCC others(303): Show ACACACCCGACACACGCCACACACACACCATACACCCCCCACACACCACA CCCCACACACCATACACACCACACACCCCACACACACCACACACCCCACA CACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACA CACACCACACACCCCACACACACCACACAAACCACACACCCCACACACAC CACACACACCACACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACAC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	338	0.0030	310	c.35 others(329): Show c.35+21788_*35+21789insCCGACACACGCCACACACACACCATA CACCCCCCACACACCACACCCCACACACCATACACACCACACACCCCACA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACCACACACCCCACACACACCACACACCCCACACACACCACACAAAC CACACACCCCACACACACCACACACACCACACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2E3_chr2_180975605_181068425	181016003	T T	TAAAATTT others(303): Show TAAAATTTGTTCAATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00735.hp2 others(4): Show HG00280.hp1 HG00639.hp1 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01175.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 others(4): Show a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139	7	338	0.0207	310	c.245 others(329): Show c.245+31926_245+31927insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAATTTGTTCAATTC	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2E3_chr2_180975605_181068425	181016003	T T	TAAAATTT others(303): Show TAAAATTTGTTCAATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(46): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG01106.hp2 HG01169.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02970.hp2 HG03098.hp1 HG03239.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp2 HG04204.hp2 NA18951.hp1 NA18954.hp2 NA18961.hp2 NA18964.hp1 NA18975.hp1 NA18982.hp2 NA18987.hp2 NA18993.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0018 others(45): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0003g0016 a0001c0001t0004g0043 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0006g0023 a0001c0001t0006g0036 a0001c0001t0007g0045 a0001c0001t0007g0048	49	338	0.1450	310	c.245 others(329): Show c.245+31926_245+31927insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAATTTGTTCAATTC	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATG others(303): Show CACATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATA CACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATA CGCATACACACACATATATGTGTGTATACGCATACACACACATATGTGTG TGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	320	0.0031	310	c.-38 others(321): Show c.-3864_-3863insACATATGTGTGTATACGCATACACACACATATGT GTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACAC ATATGTGTGTGTATACGCATACACACACATATATGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBR2_chr6_42559029_42698505	42658506	T T	TAAGAGTC others(303): Show TAAGAGTCTTTTCTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02630.hp2 others(3): Show HG02055.hp2 HG02258.hp2 HG02630.hp2 HG03130.hp2 HG06807.hp1 NA19043.hp1	a0003 a0004 a0003 a0004	a0003c0008 a0003c0009 a0004c0010 a0003c0008 a0003c0009 a0004c0010	a0003c0008t0011 a0003c0009t0010 a0004c0010t0009 a0003c0008t0011 a0003c0009t0010 a0004c0010t0009	a0003c0008t0011g0341 a0003c0009t0010g0099 a0003c0009t0010g0310 others(3): Show a0003c0008t0011g0341 a0003c0009t0010g0099 a0003c0009t0010g0310 a0003c0009t0010g0311 a0004c0010t0009g0004 a0004c0010t0009g0006	6	342	0.0175	310	c.306 others(327): Show c.3064-125_3064-124insCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAGAGTCTTTTCTCT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	28/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UCN3_chr10_5359966_5379692	5370778	C C	CGTGTATA others(303): Show CGTGTATATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATGCGTGTG TATATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATG TGTGTGTGTGTGTATGTGTGTGTGTATATGTGTGTGTATATGCGTGTGTA TATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTG TGTATATGCGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTG TATATGCGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATG TGTGTGTATGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0400 a0001c0002t0005g0400	1	468	0.0021	310	c.-6- others(325): Show c.-6-2933_-6-2932insATATGTGTGTGTATATGTGTGTGTGTATGT GTGTGTATGCGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTAT ATGCGTGTGTATATGTGTGTGTGTGTGTATGTGTGTGTGTATATGTGTGT GTATATGCGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGT GTGTGTGTATGCGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGT GTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATGTGTGTGT GTATGTGTGTGTATGTGTGTGTATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UGT2A1_chr4_69583417_69658247	69611288	T T	TCCAGCTA others(303): Show TCCAGCTATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01106.hp1 others(2): Show HG00639.hp2 HG00741.hp1 HG01106.hp1 HG01258.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0142 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0243 a0001c0001t0001g0247	5	376	0.0133	310	c.848 others(329): Show c.848-11895_848-11894insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAGAATAGCTGG	UGT2A1	ENSG00000173610.13	transcript	ENST00000286604.9	protein_coding	3/6			chr4	TogoVar
UGT2A1_chr4_69583417_69658247	69611288	T T	TCCAGCTA others(303): Show TCCAGCTATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00609.hp2 others(76): Show HG00140.hp1 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG02071.hp1 HG02129.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18981.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19067.hp1 NA19068.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0002t0003 a0002c0002t0012 a0004c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(70): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0240 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0006g0111 a0001c0001t0006g0174 a0002c0002t0001g0062 a0002c0002t0001g0069 a0002c0002t0001g0179 a0002c0002t0001g0197 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0320 a0002c0002t0001g0329 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0003g0002 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0072 a0002c0002t0003g0196 a0002c0002t0003g0318 a0002c0002t0012g0357 a0004c0004t0001g0057 a0004c0004t0001g0058	79	376	0.2101	310	c.848 others(329): Show c.848-11895_848-11894insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAGAATAGCTGG	UGT2A1	ENSG00000173610.13	transcript	ENST00000286604.9	protein_coding	3/6			chr4	TogoVar
UGT2A2_chr4_69583417_69644642	69611288	T T	TCCAGCTA others(303): Show TCCAGCTATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01106.hp1 others(2): Show HG00639.hp2 HG00741.hp1 HG01106.hp1 HG01258.hp2 NA20752.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0310 a0004c0004t0001g0035 a0004c0004t0001g0189 others(1): Show a0003c0003t0001g0310 a0004c0004t0001g0035 a0004c0004t0001g0189 a0004c0004t0001g0244	5	378	0.0132	310	c.743 others(329): Show c.743-11895_743-11894insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAGAATAGCTGG	UGT2A2	ENSG00000271271.6	transcript	ENST00000604629.6	protein_coding	1/5			chr4	TogoVar
UGT2A2_chr4_69583417_69644642	69611288	T T	TCCAGCTA others(303): Show TCCAGCTATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00609.hp2 others(78): Show HG00140.hp1 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG02071.hp1 HG02129.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18981.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19067.hp1 NA19068.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0016	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005 a0016c0020	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0003c0003t0006 a0004c0004t0001 a0005c0005t0001 a0016c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0249 a0001c0001t0001g0269 a0001c0001t0003g0003 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0309 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0006g0308 a0003c0003t0006g0311 a0004c0004t0001g0126 a0004c0004t0001g0188 a0005c0005t0001g0040 a0005c0005t0001g0307 a0016c0020t0001g0318	81	378	0.2143	310	c.743 others(329): Show c.743-11895_743-11894insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAGAATAGCTGG	UGT2A2	ENSG00000271271.6	transcript	ENST00000604629.6	protein_coding	1/5			chr4	TogoVar
ULK4_chr3_41241599_41967103	41469735	T T	TAAGAAAG others(303): Show TAAGAAAGCTCCAACAATAGGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGCAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0001 a0005c0006t0004g0001	1	72	0.0139	310	c.322 others(329): Show c.3227-6483_3227-6482insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTGCCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACTGCGCCCGGCCTATTGTTGGAGCTTTCTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
UQCC1_chr20_35297578_35416973	35361225	T T	TAAAAAGT others(303): Show TAAAAAGTTTGAAAACCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	256	0.0039	310	c.464 others(327): Show c.464+5331_464+5332insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTTTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGGTTTTCAAACTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	6/9			chr20	TogoVar
VAV3_chr1_107566161_107970180	107599844	A A	ACTGAACT others(303): Show ACTGAACTATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03490.hp1 HG01168.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0063 a0001c0001t0017g0120 a0001c0001t0004g0063 a0001c0001t0017g0120	2	210	0.0095	310	c.222 others(329): Show c.2220+2552_2220+2553insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAGAATAGTTCAG	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	24/26			chr1	TogoVar
VAV3_chr1_107566161_107970180	107599844	A A	ACTGAACT others(303): Show ACTGAACTATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGC	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20129.hp2 HG03139.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0089 a0001c0001t0003g0054 a0001c0001t0003g0089	2	210	0.0095	310	c.222 others(329): Show c.2220+2552_2220+2553insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAGAATAGTTCAG	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	24/26			chr1	TogoVar
VIPAS39_chr14_77421675_77462601	77460457	T T	TAAAGAAG others(303): Show TAAAGAAGGGTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0083 a0001c0010t0001g0083	1	244	0.0041	310	c.-29 others(321): Show c.-2964_-2963insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGCACCCTTCTTT	VIPAS39	ENSG00000151445.16	transcript	ENST00000557658.6	protein_coding		2857		chr14	TogoVar
VIPAS39_chr14_77421675_77462601	77460457	T T	TAAAGAAG others(303): Show TAAAGAAGGGTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp2 others(27): Show HG00099.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02293.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03942.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0160 a0001c0001t0002g0066	30	244	0.1230	310	c.-29 others(321): Show c.-2964_-2963insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGCACCCTTCTTT	VIPAS39	ENSG00000151445.16	transcript	ENST00000557658.6	protein_coding		2857		chr14	TogoVar
VIPR2_chr7_159023175_159149867	159132883	A A	AGATTGAT others(303): Show AGATTGATTTGAGACAGAATGATTGGCATACCGATTGATTTTAGACAGAA TGATTGGCATACAGATTGATTTCAGACAGAATGATTGGCATACCGATTGA TTTTAGACAGAATGACTGGCATACAGATTGATTTTAGACAGAATGATTGG CATACAGATTGATTTGAGACAGAATGATTGGCATACAGATTGATTTCAGA CAGAATGATTGGCATACAGATTGATTTCAGACAGAATGATTGGCATACAG ATTGATTTCAGACAGAATGATTGGCATACAGATTGATTTTAGACAGAATG ATTGGCATACC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0266 a0001c0002t0002g0266	1	336	0.0030	310	c.151 others(327): Show c.151+9562_151+9563insGGTATGCCAATCATTCTGTCTAAAATCA ATCTGTATGCCAATCATTCTGTCTGAAATCAATCTGTATGCCAATCATTC TGTCTGAAATCAATCTGTATGCCAATCATTCTGTCTGAAATCAATCTGTA TGCCAATCATTCTGTCTCAAATCAATCTGTATGCCAATCATTCTGTCTAA AATCAATCTGTATGCCAGTCATTCTGTCTAAAATCAATCGGTATGCCAAT CATTCTGTCTGAAATCAATCTGTATGCCAATCATTCTGTCTAAAATCAAT CGGTATGCCAATCATTCTGTCTCAAATCAATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132924	C C	CAGACAGA others(303): Show CAGACAGAATGATTGGCATACAGACTGATTTCAGACAGAATGATTGGCAT ACCGATTGATTTTAGACAGAATGATTGGCATACAGATTGATTTTAGACAG AATGATTGGCATACAGATTGATTTCAGACAGAATGATTGGCATACAGATT GATTTCAGACAGAATGATTGGCATACCGATTGATTTTAGACAGAATGATT GGCATACAGATTGATTTTAGACAGAATGATTGGCATACAGATTGATTTCA GACAGAATGATTGGCATACAGATTGATTTTAGACAGAATGATTGGCATAC CGATTGATTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	336	0.0030	310	c.151 others(327): Show c.151+9521_151+9522insAAAATCAATCGGTATGCCAATCATTCTG TCTAAAATCAATCTGTATGCCAATCATTCTGTCTGAAATCAATCTGTATG CCAATCATTCTGTCTAAAATCAATCTGTATGCCAATCATTCTGTCTAAAA TCAATCGGTATGCCAATCATTCTGTCTGAAATCAATCTGTATGCCAATCA TTCTGTCTGAAATCAATCTGTATGCCAATCATTCTGTCTAAAATCAATCT GTATGCCAATCATTCTGTCTAAAATCAATCGGTATGCCAATCATTCTGTC TGAAATCAGTCTGTATGCCAATCATTCTGTCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(303): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG03710.hp2 others(1): Show HG02071.hp2 HG02083.hp1 HG03710.hp2 NA19006.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0155 a0001c0001t0001g0262 a0001c0004t0001g0048 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0262 a0001c0004t0001g0048 a0002c0002t0001g0070	4	328	0.0122	310	c.802 others(327): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS13B_chr8_99008274_99882580	99850312	T T	TATACATA others(303): Show TATACATACCTACATAAGTACGCATGTATGTACTTATACATACCTACATA AGTACGCATGTATGTACTTATACATACCTACATAAGTACGCATGTATGTA CTTATACATACCTACATAAGTACGCATGTATGTACTTATACATACCTACA TAAGTACGCATGTATGTACTTATACATACCTACATAAGTACGCATGTATG TACTTATACATACCTACATAAGTACGCATGTATGTACTTATACATACCTA CATAAGTACGCATGTATGTACTTATACATACCTACATAAGTACGCATGTA TGTACTTATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0052 a0003c0007t0005g0052	1	134	0.0075	310	c.100 others(331): Show c.10061+1426_10061+1427insCTACATAAGTACGCATGTATGTAC TTATACATACCTACATAAGTACGCATGTATGTACTTATACATACCTACAT AAGTACGCATGTATGTACTTATACATACCTACATAAGTACGCATGTATGT ACTTATACATACCTACATAAGTACGCATGTATGTACTTATACATACCTAC ATAAGTACGCATGTATGTACTTATACATACCTACATAAGTACGCATGTAT GTACTTATACATACCTACATAAGTACGCATGTATGTACTTATACATACCT ACATAAGTACGCATGTATGTACTTATACATACATAC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(303): Show ATATATAATATATATATATAATATATATATATATAATATATATATATAAT ATATATATATATAATATATATATATAATATATATATATATAATATATATA TATATTATATATATATATAATATATATATATATTATATATATATATAATA TATATATATTATATATATATATAATATATATATTATATATATATATATTA TATATATATAATATATATTATATATATATAATATATATATAATATATATA TATTATATATATATAATATATATATTATATATATATTATATATATATATA TTATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	330	0.0030	310	c.38 others(321): Show c.3884_*3885insATTATATATAATATATATATATATAATATATATA TAATATATATATTATATATATATAATATATATATATTATATATATATTAT ATATATATAATATATATTATATATATATAATATATATATATATAATATAT ATATTATATATATATATAATATATATATATTATATATATATATAATATAT ATATATATTATATATATATATAATATATATATATATTATATATATATATA TTATATATATATATTATATATATATATATTATATATATATATTATATATA TATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR89_chr14_63592039_63646871	63620897	C C	CAAAAAAA others(303): Show CAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02615.hp2 others(6): Show HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02886.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0019 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0006g0047 a0001c0001t0006g0048	9	284	0.0317	310	c.-32 others(327): Show c.-32+4030_-32+4031insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACGACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTTTTTTTTTTTTTT	WDR89	ENSG00000140006.12	transcript	ENST00000620954.2	protein_coding	2/2			chr14	TogoVar

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Search Results (Total: 10000 hits)