Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PADI4_chr1_17303197_17369004	17351978	A A	ATGGGAGG others(408): Show ATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGGA GAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGTCAGGGAGG TGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGAGACAGGAGGCAGTAG GAGAGGCCGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGGA GGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGG AAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGG GAGGTGATGGGAGGTGGGAAGAGAGGCCATCAGGGAGGTGATGGGAGGTG GGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCA GGGAGGTGATGGGAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0354 a0002c0004t0001g0354	1	372	0.0027	415	c.115 others(434): Show c.1156-2548_1156-2547insTGGGAGGAGAGGCAGTCAGGGAGGTG ATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGGA GAGGCGGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGG AGACAGGAGGCAGTAGGAGAGGCCGTCAGGGAGGTGATGGGAGGTGGGAG GAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGA GGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGG AAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCCATCAGG GAGGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTG GGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALD1_chr10_70473767_70573450	70554949	T T	TCCCCTCC others(408): Show TCCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCT CCCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTC CTTCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCC CCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTC CTCCCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCC CCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG03209.hp1 HG02717.hp2 HG02723.hp2 HG03209.hp1	a0005 a0010 a0005 a0010	a0005c0015 a0010c0017 a0005c0015 a0010c0017	a0005c0015t0014 a0005c0015t0042 a0010c0017t0002 a0005c0015t0014 a0005c0015t0042 a0010c0017t0002	a0005c0015t0014g0249 a0005c0015t0042g0264 a0010c0017t0002g0184 a0005c0015t0014g0249 a0005c0015t0042g0264 a0010c0017t0002g0184	3	308	0.0097	415	c.226 others(434): Show c.2262+7505_2262+7506insCCTCCCCCTCCTCCCCCTCCCTTCCC CCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCTTCCCCCTCC TCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCT CCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCCTTCC CCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCT CCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCC CCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARP10_chr8_143972158_143991460	143981780	A A	AGGGTCAT others(408): Show AGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACA GTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATG ATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGT GATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATG AGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGG TGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGT GATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGACT GTTGTAATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 NA18747.hp1 others(5): Show HG00558.hp2 HG00673.hp1 NA18747.hp1 NA18959.hp1 NA18962.hp1 NA18969.hp2 NA18989.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0001g0100 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0148 a0001c0001t0001g0153	8	380	0.0211	415	c.255 others(434): Show c.2556+1151_2556+1152insCCATCACCATTACAACAGTCACCATC ACCACCACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCA TCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAAC AATCACCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATC ACCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCATCA CCATCACAACAATCACCATCACCACCACCATCACCATAATCATCCCCACT CATCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACC ACCACCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCAC CATCATCCCCACTCATCATCATCACCATCACCATGACCC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981820	A A	AGGGTCAT others(408): Show AGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACA GTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATG ATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGT GATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATG AGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGG TGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGT GATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGACT GTTGTAATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18979.hp2 HG00140.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0087 a0001c0001t0001g0092	2	380	0.0053	415	c.255 others(434): Show c.2556+1111_2556+1112insCCATCACCATTACAACAGTCACCATC ACCACCACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCA TCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAAC AATCACCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATC ACCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCATCA CCATCACAACAATCACCATCACCACCACCATCACCATAATCATCCCCACT CATCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACC ACCACCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCAC CATCATCCCCACTCATCATCATCACCATCACCATGACCC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981860	A A	AGGGTCAT others(408): Show AGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACA GTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATG ATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGT GATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATG AGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGG TGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGT GATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGACT GTTGTAATGGTGATGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	380	0.0053	415	c.255 others(434): Show c.2556+1071_2556+1072insCCATCACCATTACAACAGTCACCATC ACCACCACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCA TCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAAC AATCACCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATC ACCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCATCA CCATCACAACAATCACCATCACCACCACCATCACCATAATCATCCCCACT CATCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACC ACCACCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCAC CATCATCCCCACTCATCATCATCACCATCACCATGACCC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCBP3_chr21_45638725_45947450	45843077	A A	AGAATAGC others(408): Show AGAATAGCGAACTCACCGCTGTGTCATTCTCCAAATCCCAAGGGCCCAGC CAGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTTTGAATAGCGAACTCACC GCTGTGTCATTCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCC TCCAGCTTTCAGGGTTTGAATAGCGAACTCACCGCTGTGTCATTCTCCAA ATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTTT GAATAGTGAACTCACCGCTGTGTCATTCTCCAAATCCCAAGGGCCCAGCC AGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTTTGAATAGCGAACTCACCG CTGTGTCATTCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCCT CCAGCTTTCAGGGTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG03098.hp1 others(1): Show HG01891.hp2 HG02559.hp2 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0014 a0001c0001t0002 a0001c0003t0014	a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0003t0014g0290 others(1): Show a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0003t0014g0290 a0001c0003t0014g0291	4	292	0.0137	415	c.-12 others(434): Show c.-125-6802_-125-6801insTGAATAGCGAACTCACCGCTGTGTCA TTCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTT CAGGGTTTGAATAGCGAACTCACCGCTGTGTCATTCTCCAAATCCCAAGG GCCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTTTGAATAGTGA ACTCACCGCTGTGTCATTCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCT TCTTCCCTCCAGCTTTCAGGGTTTGAATAGCGAACTCACCGCTGTGTCAT TCTCCAAATCCCAAGGGCCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTTC AGGGTTTGAATAGCGAACTCACCGCTGTGTCATTCTCCAAATCCCAAGGG CCCAGCCAGTCCCCCTTCTTCCCTCCAGCTTTCAGGGTT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(408): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	262	0.0038	415	c.129 others(432): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CGCGGGGG others(408): Show CGCGGGGGGACGCGGGGGGGACGGGGGGGACGGGGGGGGGGCGGGGGGGG CGGGGGGGGGCGGGGGACGGGGGGGGCGGGGGACGCGGGGGACGGGGGGG ACGGGGGGGGACGCGGGGGGGACGGGGGGGACGGGGGGGGACGGGGGGGG ACGGGGGGGACGCGGGGGGGACGGGGGGGGCGGGGGGGGGCGGGGGGGGG GCGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGAGGGGGACGCG GGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGG GGACGGGGGGGGGGGGGGGGGGCGGGGGGGGCGGGGGGGGGGCGGGGGGG ACGGGGGGGACGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGACGGG GGGGGACACGGGGGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0182 a0004c0007t0002g0182	1	188	0.0053	415	c.147 others(434): Show c.1474-1011_1474-1010insATCCCCCGTGTCCCCCCCCGTCCCCC CCGTCCCCCCCGCCCCCCCCGCCCCCCCCGTCCCCCCCGTCCCCCCCGCC CCCCCCCCGCCCCCCCCGCCCCCCCCCCCCCCCCCCGTCCCCCCCCGCGT CCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCC TCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCCCCCG CCCCCCCCCGCCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCCGT CCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCCGTCCCCCCCGTC CCCCGCGTCCCCCGCCCCCCCCGTCCCCCGCCCCCCCCCGCCCCCCCCGC CCCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(408): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	227	0.0044	415	c.23 others(426): Show c.2397_*2398insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PXMP2_chr12_132682587_132709985	132694348	C C	CAGTTAGT others(408): Show CAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGC CAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTGAGCGCCCTTAGCCAG TTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTT AGTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTTA GTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAG TGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAG TGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGT GAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGA GCTCCCTTAGTCAGTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0170 a0001c0003t0003g0170	1	350	0.0029	415	c.237 others(432): Show c.237-1529_237-1528insTAGTGAGCGCCCTTGCCAGTTAGTTAAG TGAGCGCCCTTAGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTGA GCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAG CGCCCTTGCCAGTTAGTTAGTGAGCTCCCTGAGCCAGTTAGTGAGCTCCC TTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTT AGTCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTT AGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA GCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGC CAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGAGGGGA others(408): Show AGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGG AGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAGGAGG GGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGA GGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGGGGGAGGGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGGAGG AGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	318	0.0031	415	c.36 others(426): Show c.3638_*3639insGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGG GGAGGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGG AGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAG GAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGG GAGGGGGAGGAGGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGG AGGAGGGGAAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGCGGGGAGGA GGGGACGGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGAGGAGGGGAGGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGAGGAGGGGGGGAG GAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGG GAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGG AGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	318	0.0031	415	c.36 others(426): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGAGGAGGGGAGG GGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGG GGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGG GAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGG GGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAA GGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGG AGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGGGAGGGGGAGGGGGAGGAGGGAGGGAGGGGGAGGAGGGGGGGAGG AGGGGAGGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGG AGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	318	0.0031	415	c.36 others(426): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGGGAGGGGGAGGGGGAGGAGGGAGGGAGGGG GAGGAGGGGGGGAGGAGGGGAGGGGGGGGGAGGAGGGGAGGGGGGAGGAG GGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGAGGAGGGGAGGG GGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAA GGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGG AGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGAGGGGGGAGGAGGGGGGA GGAGGGCAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	415	c.36 others(426): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGAGG GGGGAGGAGGGGGGAGGAGGGCAGGGGGGGAGGAGGGGAGGGGGGAGGAG GGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGG GGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACGGGGGAGGAGGGGAGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(408): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGG GGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAA GGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGGTGT GGGCGGAGGGGAGTTTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0005 a0004c0019t0001g0005	1	312	0.0032	415	c.188 others(434): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATG AGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGAGGGAG GGTGGAGAGATGGGGGGTGTGGGCGGAGGGGAGTTTGGAGAGATGAGGGT GTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGA GAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGA GGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGA GGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGG TGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIMOC1_chr5_41899344_41926636	41914503	A A	AACAAAAC others(408): Show AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA AACAAAACAAAACAAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	318	0.0031	415	c.601 others(432): Show c.601+2320_601+2321insACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAG	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding	5/5			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(408): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	448	0.0022	415	c.48 others(426): Show c.4815_*4816insAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GATGGGGA others(408): Show GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTTTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	133	0.0075	415	c.351 others(434): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAAACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GGTGGGGA others(408): Show GGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCG TGTCTCAGGAAAGAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0108 a0001c0001t0013g0108	1	133	0.0075	415	c.351 others(434): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC CCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA CCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCGB1C2_chr17_132569_144067	140843	T T	TTGGTGAG others(408): Show TTGGTGAGGGGACATGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTG AGGAGGACCTGCTGAGGGGACCTGGGGGGGACCTTGGTGAGGGGACATGG TGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAA CATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGTGAG GGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGG GTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGACCTTG GTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGA CCTGGTGAGGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00280.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	402	0.0050	415	c.19 others(426): Show c.1901_*1902insTGGTGAGGGGACATGGTGAGGAGGACCTGGTGAG GGGACATGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGG TGAGGGGACCTGGTGAGGAGGACCTGCTGAGGGGACCTGGGGGGGACCTT GGTGAGGGGACATGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGA GCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGA GGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGAC CTGGGGGGGACCTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAG GACCTGGTGAGGGGACCTGGTGAGGGGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1777		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGG others(408): Show TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGA GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAG TGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGG GGTTGGGGTTGGGTGAGGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGG GGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	290	0.0035	415	c.464 others(428): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTG GGTGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGG GGGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGTTGGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGA GGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3962994	T T	TCCATGGC others(408): Show TCCATGGCTACCTGGATGTAACCACTGGGTACACCCAGGCTCACAGCTAC CTGACCTGGACGTATCCAGTGAGTACACTCAGCCCCATGGCTACCTGGAT GTAACCAGTGGGTACACCCAGGCTCACAGCTACCTGATCTGGACGTATCC AGTGAGTACATTCAGCCCCATGGCTACCTGGATGTAATCAGTGGGTACAC CCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTACATTCAGCC CCATGGCTACCTGGATGTAACCAGTGGGTACACCCAGGCTCACAGCTACC TGACCTGGACGTATCCAGTGAGTACATTCAGCCCCATGGCTATCTGGATG TAACCAGTGGGTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCA GTGAGTACACTCAGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0013 a0001c0038t0013	a0001c0038t0013g0038 a0001c0038t0013g0038	1	116	0.0086	415	c.142 others(432): Show c.1429+184_1429+598dupCACAGCTACCTGACCTGGACGTATCCAG TGAGTACACTCAGCCCCATGGCTACCTGGATGTAACCAGTGGGTACACCC AGGCTCACAGCTACCTGATCTGGACGTATCCAGTGAGTACATTCAGCCCC ATGGCTACCTGGATGTAATCAGTGGGTACACCCAGGCTCACAGCTACCTG ACCTGGACGTATCCAGTGAGTACATTCAGCCCCATGGCTACCTGGATGTA ACCAGTGGGTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGT GAGTACATTCAGCCCCATGGCTATCTGGATGTAACCAGTGGGTACACCCA GGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTACACTCAGCCCCA TGGCTACCTGGATGTAACCACTGGGTACACCCAGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	9/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086468	T T	TATATTAT others(408): Show TATATTATTATATTATATTTACATATAATATATTATTATATTATATTTAC ATATAATATATTATTATATTATATTTACATATAATATATTATTATATTAT ATTTACATATAATATATTATTATATTATATTTACATATAATATATTATAT TATATTTACATATAATATATTATTATATTATATTTACATATAATATATTA TTATATTATATTTACATATAATATATTATTATATTATATTTACATATAAT ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	276	0.0036	415	c.453 others(434): Show c.453+24001_453+24002insTATATGTAAATATAATATAATAATAT ATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAA TAATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATA ATATAATAATATATTATATGTAAATATAATATAATAATATATTATATGTA AATATAATATAATAATATATTATATGTAAATATAATATAATAATATATTA TATGTAAATATAATATAATAATATATTATATGTAAATATAATATAATATA TTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAAT AATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAA TATAATAATATATTATATGTAAATATAATATAATAATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(408): Show GAGAATAGAATAGAATGGAATGGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	256	0.0039	415	c.165 others(432): Show c.165+5274_165+5275insGGAATGGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(408): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCC GCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTG GGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG AGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACC ACCCGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	410	0.0024	415	c.-14 others(426): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGA GCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCA CCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCC CTGGGCGGGAGCACCACCCGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCT others(408): Show CACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCAC CTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCC TGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCG GGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCA CCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCT GCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTG GGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG AGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACC ACCTGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03139.hp1 HG01884.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0191 a0001c0001t0002g0275 a0001c0001t0001g0191 a0001c0001t0002g0275	2	410	0.0049	415	c.-14 others(426): Show c.-1448_-1447insACCACCTGCCCTGGGCGGGAGCACCACCTGCCCT GGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGG GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTG CCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGG GCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGA GCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCA CCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCC CTGGGCGGGAGCACCACCTGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC25A21_chr14_36672921_37177606	36789863	A A	ATATATTT others(408): Show ATATATTTATATATATTTATATATTTATATATATATTTATATATATTTAT ATATTTATATATATTTATATATATTTATATATATTTATATATTTATATAT ATTTATATATATATTTATATATATTTATATATTTATATATATTTTTATAT AATATATTTTTATTATATATATATTTATATATATAATATAATATATATAT TATATATATAATATATTTATATATATTTATATATATTATATATATTATAT ATTTATATATATTTATATATATTTATATATTTATATATAATATATTTTTA TATATTTTTATATAAATTTATATATATATTTTATATATATTTATATATAA ATATATTTTTATATATTTATATAAATATATATTATATATTTATATAAAAT ATATATTATATATATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	164	0.0061	415	c.203 others(434): Show c.203+24054_203+24055insAATATATATAATATATATTTTATATA AATATATAATATATATTTATATAAATATATAAAAATATATTTATATATAA ATATATATAAAATATATATATAAATTTATATAAAAATATATAAAAATATA TTATATATAAATATATAAATATATATAAATATATATAAATATATAATATA TATAATATATATAAATATATATAAATATATTATATATATAATATATATAT TATATTATATATATAAATATATATATAATAAAAATATATTATATAAAAAT ATATATAAATATATAAATATATATAAATATATATATAAATATATATAAAT ATATAAATATATATAAATATATATAAATATATATAAATATATAAATATAT ATAAATATATATATAAATATATAAATATATATAAATATA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(408): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATTATATAAATATAAATATATTATATATTATATAAATATAAA TATATTATATATTATATAAATATAAATATATTATATATTATATATAAATA TAAATATATTATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTAATAT ATTATATATAATATAAATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	346	0.0029	415	c.-70 others(432): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATAATATATAATATATTTATATTTA TATATAATATATATAATATATTTATATTATATATAATATATATAATATAT TTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A18_chr5_1220381_1251189	1238543	G G	GTCAGGTT others(408): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGA CATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGG AGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAG GACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAG ACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGG AGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGA GGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0070 a0007c0007t0002g0074 a0007c0007t0002g0070 a0007c0007t0002g0074	2	456	0.0044	415	c.732 others(430): Show c.732+497_732+498insGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC TGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGG AAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGG TTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCC TGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAG GAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGG TTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGC CTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414415	G G	GCAGGGAG others(408): Show GCAGGGAGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGA AGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTG GGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG AGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCG GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTG GGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCG GGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGG CGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGCGCTGGGT GGGGGGCCTGGAGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0177 a0001c0006t0005g0177	1	373	0.0027	415	c.115 others(432): Show c.1156+275_1156+276insACCCTCCAGGCCCCCCACCCAGCGCCTT CCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCC CGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCT CCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCCCACCCAGTGCCT TCCCTGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGA CCCTCCAGGCCCCCCACCCAGTGCCTTCTCCTCCCTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SNTG2_chr2_945849_1372613	1222839	C C	CGGCGCAG others(408): Show CGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGACCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGACCGCTG TAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCTGTGGAGGTGCTGAAT CGCTGTAGAGGAAAGT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	190	0.0053	415	c.719 others(434): Show c.719+13611_719+13612insCGCAGTGATGGAGGGCGTCTCCCTGT CCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGCGGCGCAGT GATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCT GTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT GGTGGAGGTGCTGGACCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGC GTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAA GTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTG CTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGT CCTGCTGTGGAGGTGCTGAATCGCTGTAGAGGAAAGTGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(408): Show AAGGGGAAGGGGGAAGGGGGAGGGGGGAAGGGGGAGGGGGAGGGGGAGGG GGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGA ACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGG GGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGA GGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	251	0.0040	415	c.34 others(424): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCC CCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCC CTTCCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(408): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0089 a0003c0003t0002g0089	1	260	0.0039	415	c.138 others(434): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(408): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCC GCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCTGGCCCCGCCCCCCGCCCAGTGCCCCGCCCCCTGCCTG CTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCC GGCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCC CGCCCAGTGCCCCGCCCCCTGACTGCTGCTAGCCCTGCCCCCGCCCCGGC CCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCCTGCCCGCT CCGAGCTCCGCCCCGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp1 NA18951.hp2 HG02071.hp1 HG02080.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0038 a0001c0001t0002 a0001c0001t0038	a0001c0001t0002g0025 a0001c0001t0038g0094 a0001c0001t0002g0025 a0001c0001t0038g0094	3	388	0.0077	415	c.483 others(428): Show c.483+92_483+93insCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAG GGCTAGCAGCAGTCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAG CGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGG CACTGGGCGGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCG GGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCA GGGCTAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGG CGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
TENM2_chr5_166974029_168269157	168076967	T T	TATTCTCA others(408): Show TATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGA GGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTG CAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAACAAAAAAATAAAAAATAAAA TAAAATAAAATAAATAAATAAAAAAAAAAAAAAAAAATTAAATGTTCAAA AAATTTTAATGATATGGTCCTGATACAATGTTAAGTGAAAAACAAATAAA GAAAAATATATAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0024 a0001c0022t0021g0024	1	54	0.0185	415	c.151 others(436): Show c.1516-13606_1516-13605insTTCTCACTCATAGGTGGGAATTGA ACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACT GTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAA TGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATA CATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGT ATAACAAAAAAATAAAAAATAAAATAAAATAAAATAAATAAATAAAAAAA AAAAAAAAAAATTAAATGTTCAAAAAATTTTAATGATATGGTCCTGATAC AATGTTAAGTGAAAAACAAATAAAGAAAAATATATAATTAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	9/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747942	G G	GGTAGAAG others(408): Show GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGC GGGAGTCTGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGACACTGAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	314	0.0032	415	c.189 others(430): Show c.189-368_189-367insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGG CACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAG GTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGACACTGAAGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134608223	G G	GTGCTGGT others(408): Show GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGA CCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGT GAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCC GAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA AGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACT GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGA CAGACCCCGAGAACTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	222	0.0045	415	c.323 others(434): Show c.323-56133_323-56132insAAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTC CTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134608254	G G	GTGCTGGT others(408): Show GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGA CCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGT GAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCC GAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA AGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACT GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGA CAGACCCCGAGAACTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	222	0.0045	415	c.323 others(434): Show c.323-56164_323-56163insAAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTC CTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMPRSS6_chr22_37060436_37114713	37097753	C C	CGGCCACC others(408): Show CGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGTCACCGTCCTGTAAC GGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGC CACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAG GGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACC GTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGC AGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGA GCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAA CGGAGGGGGAGGAGCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0308 a0001c0038t0001g0308	1	348	0.0029	415	c.336 others(430): Show c.336+662_336+663insCGCTCCTCCCCCTCCGTTACAGGACGGTGG CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGT TACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGC TCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACA GGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCT GCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGAC GGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCC CTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTG ACCCGCTCTTCCCCCTCCGTTACAGGACGGTGGCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097943	A A	AGGGCCAC others(408): Show AGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGTGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGG CCACCGTCCTGTAACGGAGGGGTAGGAGCGGCCACCGTCCTGTAACGGAG GGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCAC CGTCCTGTAACGGAGGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGG GAGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCC TGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGA GCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0023 a0023	a0023c0050 a0023c0050	a0023c0050t0001 a0023c0050t0001	a0023c0050t0001g0083 a0023c0050t0001g0083	1	348	0.0029	415	c.336 others(430): Show c.336+472_336+473insGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGT TACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCT CCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAG GACGGTGGCCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTC CCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCCTCCGTTACAGGAC GGTGGCCGCTCCTACCCCTCCGTTACAGGACGGTGGCCCACTCCTCCCCC TCCGTTACAGGACGGTGGCCCACTCCTGCCCCTCCGTTACAGGACGGTGG CCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS9_chr19_2355265_2431261	2418742	T T	TCTCCTTT others(408): Show TCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTC CTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCT TCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCC TTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCC TTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCC CCATCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTT CCCTCCCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01071.hp2 others(6): Show HG00642.hp2 HG00741.hp2 HG01071.hp2 HG01934.hp2 HG02293.hp1 HG03017.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0002c0005 a0004c0009 a0001c0004 a0002c0005 a0004c0009	a0001c0004t0002 a0002c0005t0002 a0004c0009t0002 a0001c0004t0002 a0002c0005t0002 a0004c0009t0002	a0001c0004t0002g0005 a0001c0004t0002g0036 a0001c0004t0002g0037 others(6): Show a0001c0004t0002g0005 a0001c0004t0002g0036 a0001c0004t0002g0037 a0001c0004t0002g0039 a0001c0004t0002g0040 a0002c0005t0002g0041 a0004c0009t0002g0088 a0004c0009t0002g0089 a0004c0009t0002g0090	9	114	0.0790	415	c.215 others(432): Show c.2154+604_2154+605insCTCCTTTCCTTCCCTCCCTACCTCTCCT TTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCC TTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCC CTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTC CCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTT CCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCA CCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCT CCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTTTC CTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(408): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTG ATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAA TAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAG GTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATA ATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAATT TCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03471.hp1 HG01109.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	2	408	0.0049	415	c.-41 others(426): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGG GGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TPCN2_chr11_69043932_69095597	69077105	T T	TTGCCCTC others(408): Show TTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCC TGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGTTGTGTCTGTCCACT TGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACC TGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTGCCACGTC CCTCCACCTGCCCTCCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCT GCCACGTCCCTCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01106.hp2 others(17): Show HG00099.hp1 HG00323.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03491.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0006 a0008 a0013 others(1): Show a0006 a0008 a0013 a0024	a0006c0007 a0006c0030 a0008c0010 others(2): Show a0006c0007 a0006c0030 a0008c0010 a0013c0043 a0024c0039	a0006c0007t0006 a0006c0007t0021 a0006c0030t0006 others(4): Show a0006c0007t0006 a0006c0007t0021 a0006c0030t0006 a0008c0010t0006 a0008c0010t0024 a0013c0043t0025 a0024c0039t0006	a0006c0007t0006g0168 a0006c0007t0006g0169 a0006c0007t0006g0171 others(16): Show a0006c0007t0006g0168 a0006c0007t0006g0169 a0006c0007t0006g0171 a0006c0007t0006g0172 a0006c0007t0006g0175 a0006c0007t0006g0176 a0006c0007t0006g0177 a0006c0007t0006g0178 a0006c0007t0006g0188 a0006c0007t0021g0036 a0006c0030t0006g0167 a0008c0010t0006g0025 a0008c0010t0006g0100 a0008c0010t0006g0101 a0008c0010t0006g0102 a0008c0010t0006g0103 a0008c0010t0024g0025 a0013c0043t0025g0104 a0024c0039t0006g0174	20	404	0.0495	415	c.123 others(434): Show c.1231-1332_1231-1331insATGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCC TCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGTTGTGTCTGTCCACTTGCCCTCCTGCCATGTCCCTCC ACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCC ACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCAT GTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACCTGCCCTCCTGCCCT CCTGCCGTGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCT CCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(408): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATAATGTATATATACATGTATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT AATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATATATATACATTATA CATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	388	0.0026	415	c.-23 others(432): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTATACA TTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAAT ACATGTATATATACATTATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(408): Show GTATTATACATACGTAAATGTATATATGTATATATACATTATACATACGT AAATGTATATATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATATATACATTATACATA CGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGT ATATATACATTATACATACGTAAATGTATAATGTATATATACATTATACA TACGTAAATGTATGTATATATACATTATACATACGTAAATGTATTATACA TAAATGTATATATGTATATATACATGTATTATACATACATAAATGTATAT ATGTATATATACATGTATTATACATACATAAATGTATATATGTATATATA CATGTATGCACGTATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01169.hp1 others(12): Show HG00733.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02735.hp2 NA18945.hp1 NA18964.hp1 NA18983.hp1 NA19081.hp2 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0030 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0030 a0001c0001t0067	a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0014 others(7): Show a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0045 a0001c0001t0003g0061 a0001c0001t0003g0069 a0001c0001t0003g0079 a0001c0001t0006g0017 a0001c0001t0030g0312 a0001c0001t0067g0056	15	388	0.0387	415	c.-23 others(432): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAA TGTATATATACATATATACATTTACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(408): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATAACATGATGAT ATGATACTATATCATCATATAACATGATGATATGATACTATATCATCATA TAACATGATGATATGATACTATATCATCATATAACATGATGATATGATAC TATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0049 a0002c0003t0049	a0002c0003t0049g0002 a0002c0003t0049g0002	1	174	0.0058	415	c.41- others(432): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATAACATGATGATATGATAC TATATCATCATATAACATGATGATATGATACTATATCATCATATAACATG ATGATATGATACTATATCATCATATAACATGATGATATGATACTATATCA TCATATAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(408): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	334	0.0030	415	c.657 others(430): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TUBGCP5_chr15_22994177_23044569	23042957	T T	TGGGGGGA others(408): Show TGGGGGGACATCATAACCCCACCTGGCCGGGGGTGCTGGGGGGCGGGGGG AACTTCATAACCCCACCTGGCCAGAGGTGCTGGTGGTGACTTCATAAATG TCACCGGGCCAGAGGTGCTGGGGGGATTTCATAACCACAGCTGACCATAG GTGCTGGGGGAGATTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGGAC TTCATAAGCACACCTGGCCAGAGGTGCCAGGAGGACTTCATAACCACACC TGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCT GTGGGGGGGTATTATAACCCCACCTGGCCAGAGGTGCTGGGGGGTATCAT AATCCCACCTGTCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCA GGAGGTGCTGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00621.hp1 others(33): Show HG00408.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp1 NA18612.hp2 NA18747.hp1 NA18952.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp2 NA19005.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19081.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0012 a0001c0001 a0001c0002 a0005c0012	a0001c0001t0001 a0001c0002t0002 a0005c0012t0002 a0001c0001t0001 a0001c0002t0002 a0005c0012t0002	a0001c0001t0001g0010 a0001c0001t0001g0154 a0001c0001t0001g0181 others(29): Show a0001c0001t0001g0010 a0001c0001t0001g0154 a0001c0001t0001g0181 a0001c0001t0001g0244 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0028 a0001c0002t0002g0074 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0103 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0127 a0005c0012t0002g0102	36	351	0.1026	415	c.-34 others(426): Show c.-3415_-3414insGCCCCCCAGCACCTCCTGCCAGCTGGGGTTATGA TGGCCCCACAGCACCTCTGGACAGGTGGGATTATGATACCCCCCAGCACC TCTGGCCAGGTGGGGTTATAATACCCCCCCACAGCACCTCTGGCCAGGTG AGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTGTGGTTATGAAGTCC TCCTGGCACCTCTGGCCAGGTGTGCTTATGAAGTCCCCCCAGCACCTCTG GCCAGGTGGGGTTATGAAATCTCCCCCAGCACCTATGGTCAGCTGTGGTT ATGAAATCCCCCCAGCACCTCTGGCCCGGTGACATTTATGAAGTCACCAC CAGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCAGCAC CCCCGGCCAGGTGGGGTTATGATGTCCCCCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3389		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870579	A A	ACCCCATA others(408): Show ACCCCATACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCATACACACCACACACCCCACACACACCACACACCCCACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCATACACACCACACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	338	0.0030	415	c.35 others(434): Show c.35+21847_*35+21848insCCCATACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACACCCCACACACA CCACACACCCCACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACACCCCACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917309	G G	GGGCTTGG others(408): Show GGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GACGGGGGTCGGGTTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0238 a0001c0023t0003g0238	1	344	0.0029	415	c.218 others(432): Show c.2183-102_2183-101insGGCTTGGAGGCTGTGGGACGGGGGTCGG GTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar

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Search Results (Total: 10000 hits)