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
SIGIRR_chr11_400716_419999	401613	G G	GCCCCGCT others(298): Show GCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCGGACCC CGCTCACCCCCGCCCCGCTCACACCCGACCCCGCTCACACCCGCCCCGCT CACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACC CCCGCCCCGCTCACACCCGACCCCGCTCACACCCGCCCCGCTCACCCCCG CCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACACCCGGCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTC ACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	242	0.0041	305	c.42 others(316): Show c.4282_*4283insGGGGGTGAGCGGGGCGGGGGTGAGCGGGGCGGGT GTGAGCGGGGCCGGGTGTGAGCGGGCCGGGTGTGAGCGGGGTCCGGGGTG AGCGGGGCGGGGGTGAGCGGGGCGGGGGTGAGCGGGGCGGGTGTGAGCGG GGTCGGGTGTGAGCGGGGCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGC GGGGGTGAGCGGGGCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGTCGGGT GTGAGCGGGGCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCGGGTGTGA GCGGGCCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4102		chr11	TogoVar
SIGIRR_chr11_400716_419999	401877	C C	CCGACCCG others(298): Show CCGACCCGCCACCCCGGGCCCCCTCACCCCGCCCCGCTCACACCCGCCCC GCTCACACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCCCGACCCG CTCACCCCAGCCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTC ACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCCGACCCGCTCAC CCCCGACCCGCTCCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGA CCCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	242	0.0041	305	c.40 others(316): Show c.4018_*4019insAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGGTGTGAGCGGGGCCCGGGGTGAGCGGG TCGGGGGTGGAGCGGGTCGGGGGTGAGCGGGTCGGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGG GGTGAGCGGGGGCTGGGGTGAGCGGGTCGGGGGGGTGAGCGGGTCGGGGG TGAGCGGGTCGGGTGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGGTGAG GGGGCCCGGGGTGGCGGGTCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3838		chr11	TogoVar
SIGLEC5_chr19_51605960_51635401	51632164	C C	CAAAGACT others(298): Show CAAAGACTCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG02622.hp1 HG00735.hp1 HG01109.hp2 HG02622.hp1	a0002 a0006 a0016 a0002 a0006 a0016	a0002c0026 a0006c0007 a0016c0027 a0002c0026 a0006c0007 a0016c0027	a0002c0026t0001 a0006c0007t0013 a0016c0027t0001 a0002c0026t0001 a0006c0007t0013 a0016c0027t0001	a0002c0026t0001g0312 a0006c0007t0013g0322 a0016c0027t0001g0048 a0002c0026t0001g0312 a0006c0007t0013g0322 a0016c0027t0001g0048	3	414	0.0073	305	c.-18 others(316): Show c.-1830_-1829insTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAGAGAGTCTTT	SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding		1764		chr19	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCT others(298): Show CACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCAC CTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCC TGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCG GGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCA CCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCT GCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTG GGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0220 a0001c0007t0005g0220	1	410	0.0024	305	c.-14 others(316): Show c.-1448_-1447insACCACCTGCCCTGGGCGGGAGCACCACCTGCCCT GGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGG GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTG CCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGG GCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGA GCACCACCTGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(298): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01261.hp1 HG06807.hp1 HG00639.hp1 HG01261.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0019 a0001c0001t0022 a0001c0001t0012 a0001c0001t0019 a0001c0001t0022	a0001c0001t0012g0135 a0001c0001t0019g0147 a0001c0001t0022g0015 a0001c0001t0012g0135 a0001c0001t0019g0147 a0001c0001t0022g0015	3	182	0.0165	305	c.100 others(324): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC39A11_chr17_72640949_73097688	72895041	T T	TAAAACAG others(298): Show TAAAACAGAAGAATGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0014 a0002c0004t0001g0091 a0002c0004t0001g0092 a0001c0001t0001g0014 a0002c0004t0001g0091 a0002c0004t0001g0092	3	180	0.0167	305	c.431 others(324): Show c.431-45238_431-45237insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGACCATTCTTCTGTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	5/9			chr17	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(298): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG01175.hp2 others(4): Show HG00639.hp1 HG01123.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0218 a0001c0001t0001g0258 a0001c0001t0001g0291	7	360	0.0194	305	c.148 others(324): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414408	T T	TGGAGGGT others(298): Show TGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC ACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGG GGGCCG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0279 a0001c0002t0004g0279	1	373	0.0027	305	c.115 others(322): Show c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCTGCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTT CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC AGGCCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCTCCGCCCTGACCCTCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGCAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01346.hp2 HG01361.hp2 others(12): Show HG01069.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02735.hp1 HG03831.hp1 NA18747.hp1 NA18943.hp1 NA18978.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0010 a0001c0003t0005 a0001c0009t0005 a0001c0002t0010 a0001c0003t0005 a0001c0009t0005	a0001c0002t0010g0012 a0001c0002t0010g0086 a0001c0002t0010g0090 others(9): Show a0001c0002t0010g0012 a0001c0002t0010g0086 a0001c0002t0010g0090 a0001c0003t0005g0011 a0001c0003t0005g0013 a0001c0003t0005g0027 a0001c0003t0005g0042 a0001c0003t0005g0087 a0001c0003t0005g0088 a0001c0003t0005g0089 a0001c0003t0005g0091 a0001c0009t0005g0027	15	380	0.0395	305	c.-13 others(322): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCC AAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS3_chr10_104636290_105270242	104696353	T T	TATACACA others(298): Show TATACACATATGATATATGATATATATCATATACACATATGATATATGAT ATATATCATATACACATATGATATATGATATATATCATATACACATATGA TATATGATATATATCATATACACATATGATATATGATATATATCATATAC ACATATGATATATGATATATATCATATACACATATGATATATGATATATA TCATATACACATATGATATATGATATATATCATATACACATATGATATAT GATATATATCATATACACATATGATATATGATATATATCATATACACATA TATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	134	0.0075	305	c.627 others(324): Show c.627+54402_627+54403insCACATATGATATATGATATATATCAT ATACACATATGATATATGATATATATCATATACACATATGATATATGATA TATATCATATACACATATGATATATGATATATATCATATACACATATGAT ATATGATATATATCATATACACATATGATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATATGATATATGATATATATCATATACACATATGATATATG ATATATATCATATACACATATATATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAAR_chr9_35904490_35916686	35913767	T T	TGTGTATT others(298): Show TGTGTATTTTTTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGA GTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTA GTGTGTATTTTGTTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATG TGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	420	0.0024	305	c.30 others(316): Show c.3076_*3077insGTGTATTTTTTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTATTTTGTTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTG TGTGTAAGCTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2082		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35913767	T T	TGTGTATT others(298): Show TGTGTATTTTTTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGA GTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTA GTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATG TGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG03486.hp1 HG01496.hp2 HG02922.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	420	0.0071	305	c.30 others(316): Show c.3076_*3077insGTGTATTTTTTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTG TGTGTAAGCTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2082		chr9	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TAATGATA others(298): Show TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATTATATAAC ATGATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG01358.hp2 others(2): Show HG01123.hp2 HG01175.hp1 HG01358.hp2 HG01433.hp1 HG02040.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0003 a0003c0027 others(1): Show a0001c0002 a0001c0003 a0003c0027 a0004c0014	a0001c0002t0009 a0001c0002t0084 a0001c0003t0062 others(2): Show a0001c0002t0009 a0001c0002t0084 a0001c0003t0062 a0003c0027t0004 a0004c0014t0024	a0001c0002t0009g0345 a0001c0002t0084g0104 a0001c0003t0062g0258 others(2): Show a0001c0002t0009g0345 a0001c0002t0084g0104 a0001c0003t0062g0258 a0003c0027t0004g0064 a0004c0014t0024g0148	5	356	0.0140	305	c.-11 others(326): Show c.-112+29223_-112+29224insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATTATATAACATGATGA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(298): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCAAA GTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGCTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGC AGTTGT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	356	0.0028	305	c.245 others(322): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCAAAGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGC TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGC CAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(298): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGC AGTTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(174): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18954.hp1 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0012 a0014	a0001c0001 a0001c0003 a0003c0005 others(4): Show a0001c0001 a0001c0003 a0003c0005 a0004c0004 a0007c0026 a0012c0017 a0014c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0003t0001 a0001c0003t0005 a0001c0003t0013 a0003c0005t0001 a0004c0004t0001 a0007c0026t0001 a0012c0017t0001 a0014c0024t0001	a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0057 others(174): Show a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0350 a0001c0001t0002g0051 a0001c0001t0002g0122 a0001c0001t0004g0170 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0212 a0001c0001t0004g0224 a0001c0001t0004g0230 a0001c0001t0004g0244 a0001c0001t0004g0259 a0001c0001t0004g0262 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0007g0026 a0001c0001t0009g0174 a0001c0001t0015g0229 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0127 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0274 a0001c0003t0001g0277 a0001c0003t0005g0273 a0001c0003t0005g0275 a0001c0003t0005g0276 a0001c0003t0013g0128 a0003c0005t0001g0295 a0004c0004t0001g0173 a0004c0004t0001g0186 a0004c0004t0001g0194 a0004c0004t0001g0195 a0004c0004t0001g0196 a0004c0004t0001g0197 a0004c0004t0001g0205 a0004c0004t0001g0271 a0004c0004t0001g0355 a0004c0004t0001g0356 a0007c0026t0001g0146 a0012c0017t0001g0148 a0014c0024t0001g0270	177	356	0.4972	305	c.245 others(322): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGC CAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(298): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGC AGTTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	356	0.0028	305	c.245 others(322): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGC CAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(298): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGAGGGGAGGGGAGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0077 a0003c0003t0002g0077	1	260	0.0039	305	c.138 others(324): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCTCCCCTCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(298): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	396	0.0025	305	c.485 others(320): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRXN1_chr20_641615_658200	642169	G G	GGGCCCAG others(298): Show GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	422	0.0024	305	c.65 others(316): Show c.6544_*6545insACCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CCCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGG CAACTCCACCCCCGCTGGGCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4445		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62166667	A A	ATAATCCC others(298): Show ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCCAG GAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTACCAAAA AATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCCAGTTAC TCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGTTGCAGT GAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAAGACCCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTTCA CACCTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19043.hp1 HG02895.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0271 a0001c0002t0004g0028 a0001c0002t0004g0271	2	316	0.0063	305	c.916 others(322): Show c.916+1168_916+1169insGGGAGGCCAAGGCAGGCGGATCACTTGA GGCCAGGAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTA CCAAAAAATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCC AGTTACTCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGT TGCAGTGAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAA GACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATT AGTTCACACCTGTAATCCCAGCACTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCACCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCCCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG01358.hp1 others(26): Show HG00099.hp2 HG00544.hp2 HG01358.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02083.hp2 HG02602.hp2 HG02738.hp1 HG03710.hp1 HG03831.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18990.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19056.hp2 NA19064.hp1 NA19068.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(26): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0239 a0001c0001t0002g0181 a0001c0001t0002g0185	29	274	0.1058	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCACCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCCCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(187): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0039 others(187): Show a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0149 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0234 a0001c0001t0003g0071 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0148 a0001c0001t0003g0192 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0005g0006 a0001c0001t0005g0007	190	274	0.6934	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCCCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GGTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02615.hp2 others(6): Show HG01891.hp2 HG02145.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02976.hp1 HG03195.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 others(6): Show a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0006g0060	9	274	0.0329	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGGTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCACCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCTCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GCTCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG02615.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0203 a0001c0001t0003g0204	2	274	0.0073	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCACCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCTCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904942	C C	CCTCCCCC others(298): Show CCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCATCTGC TGCTCCTCTTCCCGCCACTCTTCCTCCCCCGCCTGCTGCTCCTCTTCCCA CCACTCTCCCTCCCTCTCCTCCTGCTCCTCTTCCCGCCACTCTTCCTCCC CCTCCTCCTGCTCGTCTTCCTGCCACTCTTCCTCCCTCTCCTCCTGTTCC TCTTCCTGCCACTCTTTCCCCTCCTCCTGCTCCTATTCCTGCCACTCTTC CTTCCCTTCCTCCTGCTCCTATTCCTGCCACTCTCCCTTCCCCTCCTCCT GCTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	274	0.0037	305	c.744 others(322): Show c.744+5217_744+5218insCCCCCTCCTCCTGCTCCTCTTCCCGCCA CTCTTCCTCCCCCATCTGCTGCTCCTCTTCCCGCCACTCTTCCTCCCCCG CCTGCTGCTCCTCTTCCCACCACTCTCCCTCCCTCTCCTCCTGCTCCTCT TCCCGCCACTCTTCCTCCCCCTCCTCCTGCTCGTCTTCCTGCCACTCTTC CTCCCTCTCCTCCTGTTCCTCTTCCTGCCACTCTTTCCCCTCCTCCTGCT CCTATTCCTGCCACTCTTCCTTCCCTTCCTCCTGCTCCTATTCCTGCCAC TCTCCCTTCCCCTCCTCCTGCTCCTCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SULT1B1_chr4_69716167_69765620	69719752	T T	TAAGAAAA others(298): Show TAAGAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGAGGTGGTGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATCGC ACCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0287 a0001c0001t0153g0287	1	408	0.0025	305	c.73 others(316): Show c.7335_*7336insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGTCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTAATTTTCTT	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1414		chr4	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(298): Show TATATACATATATACATATATACACATATGTGTATATATACATATATATA CACATATATATGTATATATACACATATGTGTACATATGTGTATATATACA TATATACACATATATATGTATATATACACATATGTGAATATATATGTGTT ATATATACACATATGTGTATATGTATATATGTATATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATAACACATATATA TACACATATGTGTATATATACATATATACATATACACATATGTGTATATA TAACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20129.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0064 a0001c0001t0009g0173 a0001c0001t0009g0064 a0001c0001t0009g0173	2	376	0.0053	305	c.158 others(324): Show c.1582-2860_1582-2859insCATATATACATATATACACATATGTG TATATATACATATATATACACATATATATGTATATATACACATATGTGTA CATATGTGTATATATACATATATACACATATATATGTATATATACACATA TGTGAATATATATGTGTTATATATACACATATGTGTATATGTATATATGT ATATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATAACACATATATATACACATATGTGTATATATACATATATACATA TACACATATGTGTATATATAACACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TACR1_chr2_75041463_75204520	75160764	T T	TAAGACAT others(298): Show TAAGACATAACAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03139.hp2 others(1): Show HG02572.hp1 HG02723.hp1 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0001t0001 a0001c0001t0003 a0001c0003t0004	a0001c0001t0001g0101 a0001c0001t0003g0042 a0001c0001t0003g0077 others(1): Show a0001c0001t0001g0101 a0001c0001t0003g0042 a0001c0001t0003g0077 a0001c0003t0004g0131	4	282	0.0142	305	c.389 others(324): Show c.389+37781_389+37782insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTCTGTTATGTCTT	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar
TBCE_chr1_235362427_235457443	235412135	C C	CATCCCTT others(298): Show CATCCCTTTCCCTTCCCATCCCTTTCCCTTCCCATCCCTTTCCCTTCCCA TCCCTTTCCCTTCTCCTCCCCTTCCCCTCCCCTCCCGCTCCCCTCCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCTCCCCCC CTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp2 HG02257.hp1 others(9): Show HG00733.hp2 HG01261.hp2 HG02257.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03453.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0160 a0001c0001t0005g0163 others(9): Show a0001c0001t0005g0124 a0001c0001t0005g0160 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0184 a0001c0001t0005g0186	12	268	0.0448	305	c.186 others(322): Show c.186-2298_186-2297insATCCCTTTCCCTTCCCATCCCTTTCCCT TCCCATCCCTTTCCCTTCCCATCCCTTTCCCTTCTCCTCCCCTTCCCCTC CCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCC TCCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCT	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	268	0.0037	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCT GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18950.hp2 NA18970.hp1 HG02300.hp1 NA18950.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0033 a0001c0001t0001g0105 a0001c0001t0007g0142 a0001c0001t0001g0033 a0001c0001t0001g0105 a0001c0001t0007g0142	3	268	0.0112	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0114	3	268	0.0112	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	268	0.0037	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCTCCCCCTCCTCTCCCTT CCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	268	0.0037	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCC CTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(298): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCGCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCCTCCCCCCTCCCCCTCCTCTCCC TTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCTCCCCTCCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCTT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC CCCCCT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	268	0.0037	305	c.186 others(322): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCGCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCCTCCC CCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1627847	G G	GTGAGGCG others(298): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0283 a0001c0002t0058g0283	1	352	0.0028	305	c.299 others(320): Show c.299-422_299-421insTCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628496	G G	GGGGTGAG others(298): Show GGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGATGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGTAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0031 a0003c0006t0031	a0003c0006t0031g0129 a0003c0006t0031g0129	1	352	0.0028	305	c.299 others(322): Show c.299-1071_299-1070insGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTA CTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG TTCTGCTGTCCCCTTCCCGCCTCACCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628736	A A	AGGGGGTG others(298): Show AGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAG CTCACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0104 a0001c0004t0003g0104	1	352	0.0028	305	c.299 others(322): Show c.299-1311_299-1310insCGTGAGCTCTGCTGTCCCCTTCCCGCCC CATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCT CTGCTGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC ACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCTTTCCCGCCTCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CAGGGGGT others(298): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CATGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0085 a0002c0001t0007g0085	1	352	0.0028	305	c.299 others(322): Show c.299-1413_299-1412insCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC CCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCATGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THSD4_chr15_71110471_71788383	71199705	T T	TGTGTGGT others(298): Show TGTGTGGTATGTGTGTGTGATGCATGTGTGTGTGGTGTGTGTGGGTGTGT GTGATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGTGTGGTGTG TGTGTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTG TGTGTGGTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGTGCTGTGTG TGTGTGATGCACGTGTGGGGTGTGTGTGTGTGTGCTGTGTGTGATGCATG TGTGGGGTGTGTGTGTGTGTGGTGCATGTGTGGTATGTGTGTGTGGTGCA TGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0064 a0001c0003t0031g0064	1	116	0.0086	305	c.100 others(324): Show c.100-15329_100-15328insTGTGGTATGTGTGTGTGATGCATGTG TGTGTGGTGTGTGTGGGTGTGTGTGATGTGTGGTGTGTGTGTGGTGTGTG TGGTGTCTGGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGTGTGTGTG GGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTGCTGTGTG TGTGCTGTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGTGTGTGTG TGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGGTGCATG TGTGGTATGTGTGTGTGGTGCATGTGTGG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLK1_chr2_170985823_171165893	171033547	T T	TAAAATAA others(298): Show TAAAATAACCAAGAGTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	266	0.0038	305	c.117 others(324): Show c.1170-5143_1170-5142insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGGTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCATACTCTTGGTTATTTT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	11/20			chr2	TogoVar
TMC1_chr9_72516608_72843297	72835691	T T	TGTTACAA others(298): Show TGTTACAAAAAAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0092 a0002c0002t0019g0092	1	182	0.0055	305	c.226 others(322): Show c.2261-248_2261-247insGCCGAGGCGGGTGGATCATGAGGTCGGG AGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGTTACAAAAAAG	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEFF2_chr2_191944046_192199933	192131039	C C	CGCTTTTC others(298): Show CGCTTTTCTGGGGAAGGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTC TACCCCTTCTCTGCTTTTCTGGGAAAAGGGCAAGTACCCCAACCCCTTCT CTCCTTGTCTCTACCCCTTCTCTGCTTTTCTGGGGAAGGGGCAAGTACCC CAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTGCTTTTCTGGGAAAAG GGCAAGTACCCCAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTGCTTT TCTGGGAAAAGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTCTACCCC TTCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG01192.hp1 others(39): Show HG00280.hp1 HG00408.hp2 HG01192.hp1 HG01884.hp1 HG01943.hp2 HG01975.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp2 HG03209.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG06807.hp1 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18970.hp1 NA18979.hp2 NA18982.hp2 NA18992.hp2 NA18998.hp1 NA19002.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0027 others(39): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0002g0008 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0004g0005 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0006g0106 a0001c0001t0011g0133	42	164	0.2561	305	c.439 others(324): Show c.439+48628_439+48629insAGAGAAGGGGTAGAGACAAGGAGAGA AGGGGTTGGGGTACTTGCCCTTTTCCCAGAAAAGCAGAGAAGGGGTAGAG ACAAGGAGAGAAGGGGTTGGGGTACTTGCCCTTTTCCCAGAAAAGCAGAG AAGGGGTAGAGACAAGGAGAGAAGGGGTTGGGGTACTTGCCCCTTCCCCA GAAAAGCAGAGAAGGGGTAGAGACAAGGAGAGAAGGGGTTGGGGTACTTG CCCTTTTCCCAGAAAAGCAGAGAAGGGGTAGAGACAAGGAGAGAAGGGGT TGGGGTACTTGCCCCTTCCCCAGAAAAGC	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEM132B_chr12_125181386_125667369	125612926	T T	TTGTATAA others(298): Show TTGTATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATAAAAATATATATATCATATATATTTATATATTATAT ATTATATATTTATATTTTATTTTTATATTTATATTATATATATTTTTTAT ATTTATATTTATATATCATATTATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0064 a0001c0003t0027g0064	1	128	0.0078	305	c.143 others(326): Show c.1437+28933_1437+28934insGTATAAAAATATATATATCATATA TATTTATATATTATATAAAAATATATATATCATATATATTTATATATTAT ATAAAAATATATATATCATATATATTTATATATTATATAAAAATATATAT ATCATATATATTTATATATTATATATTATATATTTATATTTTATTTTTAT ATTTATATTATATATATTTTTTATATTTATATTTATATATCATATTATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOPAZ1_chr3_44236886_44337098	44298800	G G	GAAAAAAT others(298): Show GAAAAAATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0236 a0002c0026t0001g0236	1	258	0.0039	305	c.379 others(324): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAATAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TOPAZ1_chr3_44236886_44337098	44298807	T T	TAGGGGCC others(298): Show TAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	258	0.0039	305	c.379 others(324): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP53AIP1_chr11_128930370_128947871	128930908	C C	CGGGGTTA others(298): Show CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGG GGTTAGGAAGGCCGGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	466	0.0022	305	c.46 others(316): Show c.4682_*4683insTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTC CCTGACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTTCCTAACCCC CAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCT AACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4461		chr11	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(298): Show TAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	336	0.0030	305	c.514 others(322): Show c.514-3951_514-3950insTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(298): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0296 a0004c0012t0002g0296	1	336	0.0030	305	c.514 others(322): Show c.514-3951_514-3950insTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTTGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(298): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02145.hp1 HG02738.hp2 others(7): Show HG00597.hp2 HG02145.hp1 HG02738.hp2 HG03942.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp1 NA18985.hp2 NA19089.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0125 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0002g0214 a0001c0001t0002g0250	10	336	0.0298	305	c.514 others(322): Show c.514-3951_514-3950insTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar

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Search Results (Total: 10000 hits)