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
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGCGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	364	0.0028	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCGCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGGGGTGGGAGAACGG GGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGGGGTGGGAGAGCGG GGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGGTGGGGGTGGGAGG GGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACGGGGTGAGAGCGG GGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAGAACGGGGTGGGA GCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGC GGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGG GGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGGGCGGGG TGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTG GGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGG GGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG01884.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0025 a0001c0001t0005 a0001c0001t0025	a0001c0001t0005g0005 a0001c0001t0025g0201 a0001c0001t0005g0005 a0001c0001t0025g0201	2	364	0.0055	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCCCTCTCCCCGTTCCCCC ACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCAC CCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCCACCC CGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCTCCCACCCCG CTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCAC CTCGCTCCCACCCCGTTCTCCCACCCCCCTCCCACCCCCACCCCGTTCTC CCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCC ACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCAC CCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(595): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGATGGT GGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGATGGTGGTGA CGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGAAGGTAATGGTG GTGGTGATGGTGATGGTGATAATGTGGCGATGGTGATGGTAATGATGGTG GTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGGTGGTGGC GGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGGTGATGGTGG TGGTGGTGATGGTGATGTTAATGATGGTGGTGATAGTGATGACGGTGATG GTGGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGGT GACGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTGG TGATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGTG ATGGTGATGATGGTGGTGATGGTGTTGATGGTGATCTTGGTAATGGTGAT GATGGTGGTGGTGATGGCAATGGTGATGGTGGTGATGGTGTTGATGGTGA TCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	258	0.0039	602	c.113 others(621): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGATGGTGGTGACGATGGTGATGGTGAGGATGATGGTGGTG GTGATGGTGAAGGTAATGGTGGTGGTGATGGTGATGGTGATAATGTGGCG ATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATGGTGATCAT GGTAATGGTGATGGTGGTGGCGGTGACGGTGATGGTAATGATGGTGGTGA TAGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGTTAATGATGGTG GTGATAGTGATGACGGTGATGGTGGCGGTGGCGGTGATGGCGATGGTGAT GGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGATGATGATGA GGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATGATAATGATG GTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGTTGAT GGTGATCTTGGTAATGGTGATGATGGTGGTGGTGATGGCAATGGTGATGG TGGTGATGGTGTTGATGGTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(595): Show CCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCA TCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTC CGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCC ACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTC CGCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCAC CCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCC TCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTC CACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTG CCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCAT CCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCGCCCCTCCG CCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCT CCG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0106 a0001c0001t0011g0106	1	112	0.0089	602	c.142 others(623): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC CCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCC CCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCC TACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCC CCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCC CACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCA CCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCC CTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCT CCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACC CATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCC TCCGCCCCACCCACCGCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACC CATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTC CCTCCCCCCCACCCATCCCTCCCTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1627945	A A	ACGGGGGT others(595): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA ACT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0064 a0002c0001t0064	a0002c0001t0064g0053 a0002c0001t0064g0053	1	352	0.0028	602	c.299 others(617): Show c.299-520_299-519insAGTTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(595): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACCCAC CCACCCACTCACCCATCCACACACCCACCCACACACCCATCCATCCACAC AAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCCCAC ACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0056 a0002c0031t0056	a0002c0031t0056g0217 a0002c0031t0056g0217	1	346	0.0029	602	c.657 others(617): Show c.657+473_657+474insTGTGTGGGCAGATGGATGGATGGATGGGTG GATGGATGGATGGGTGGGTGTTTGTGTGGATGGATGGGTGTGTGGGTGGG TGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATGGGTAGATGGATA GGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAGATGGACAGATGG GTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGTGGATGTGTGGAT GGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGTGTGGATGGGTGG GTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAAGGTATGTGCAGA TGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATGGGTGGATGGATG GATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGA TGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTGGGTGGGTGAGTG CATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGT GCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TECTA_chr11_121096243_121196490	121186127	T T	TAATGAAT others(595): Show TAATGAATGAGTAGGGAAGCAGATGTTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAAT GCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTCAATGCTTAATG AATGAGTAGGGAAAGCCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGGAAAGCAGATGTTCAATGCTGA ATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGAAGATGTTCAATGCTTAATGATATGAGTAGGGAAAGCAGATGTTCAA TGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTATATGAATGA GTAGGGGAAAGGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAA TGAATGAGTAGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAG ATGGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTA ATG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0080 a0003c0004t0002g0080	1	348	0.0029	602	c.600 others(621): Show c.6000-1700_6000-1699insATGAGTAGGGAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTCAATGCTTAATGAATGAGTAG GGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTCAATGCTTAATGAATGAGTAGGGAAAGCCAGATGTTGAATGCTT AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGGAAA GCAGATGTTCAATGCTGAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGATATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTATATGAATGAGTAGGGGAAAGGCAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAG CAGATGTTGAATGCTTAATGAATGAGTAGGAAAGCAGATGTTCAATGCTT AATGAGTAGGGAAAGCAGATGGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1273154	C C	CCACACAT others(595): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAG TCACATCAGACCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCTGTGACCGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCA CCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	392	0.0026	602	c.228 others(619): Show c.2287-875_2287-874insTGGTGACTGTGGATGGCGGTCGTAGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG GTCACAGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX29_chr13_111315642_111349248	111341035	A A	AATCATAA others(595): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	416	0.0024	602	c.239 others(619): Show c.239+1145_239+1146insCATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCA TAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCG TGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111341078	A A	AATCATAA others(595): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01071.hp1 others(12): Show HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01346.hp2 HG01496.hp2 HG01952.hp1 HG02004.hp1 HG02293.hp1 HG02293.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0010t0001	a0001c0001t0001g0016 a0001c0001t0001g0123 a0001c0001t0001g0136 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0002t0001g0006 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0002g0006 a0001c0002t0002g0086 a0001c0002t0003g0259 a0001c0010t0001g0126	15	416	0.0361	602	c.239 others(619): Show c.239+1156_239+1157insGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTT TAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAG CACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGT GCTTGTTGATGAACATCATAACCC	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
THEG_chr19_356747_381026	376773	C C	CCCCACCC others(595): Show CCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTG TACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCC CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCC GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0005 a0004c0016t0005	a0004c0016t0005g0105 a0004c0016t0005g0105	1	370	0.0027	602	c.-80 others(611): Show c.-804_-803insCACGGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGG GGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		748		chr19	TogoVar
THEG_chr19_356747_381026	377417	C C	CCTGTGCC others(595): Show CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	370	0.0054	602	c.-14 others(613): Show c.-1448_-1447insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1392		chr19	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(595): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT GTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG03209.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0015 a0002c0004t0003 a0001c0001t0015 a0002c0004t0003	a0001c0001t0015g0097 a0002c0004t0003g0236 a0001c0001t0015g0097 a0002c0004t0003g0236	2	256	0.0078	602	c.924 others(619): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(595): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT GTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	256	0.0039	602	c.924 others(619): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(595): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATAAAAATTATATATATTATATATATAAAAATTATATATATATTA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATTATA TATATATAAAAATTATATATATATTATATATATAAAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 NA19030.hp2 HG03669.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	272	0.0074	602	c.28 others(613): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATAAAAATTATATATATTATATATATAAAA ATTATATATATATTATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATTATATATATATAAAAATTATATATATATTATATATATAA AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATTATATATATATAAAAATTATATATATTAT ATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(595): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATAAAAATTATATATATTATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATAATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTGTATATATATAAAAATTATATATATA TTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	272	0.0037	602	c.29 others(613): Show c.2923_*2924insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATAAAAATTATATATATTA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATAATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTGTATATATATA AAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(595): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATATAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATAATATATATATATAAAAATTATATATATATATTATATATATATAAAAA TTATATATATATATTATATATATATAAAAATTATATATATATATTATATA TATATAAAAATTATATATATATATTATATATATATAAAAATTATATATAT ATATTATATATATATAAAAATTATATATATATATTATATATATATAAAAA TTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	272	0.0037	602	c.29 others(613): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATATAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATAATATATATATATAAAAATTATATATATATATT ATATATATATAAAAATTATATATATATATTATATATATATAAAAATTATA TATATATATTATATATATATAAAAATTATATATATATATTATATATATAT AAAAATTATATATATATATTATATATATATAAAAATTATATATATATATT ATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152097	A A	AGAAGGGG others(595): Show AGAAGGGGAGTGAAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGATGA GAAGGGGAGTGAGAGAGGGGGTGAGAAGGAAGTGAGAGTGGGCTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGA GAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTG GGGGGTGAGAAGGGGAGTGAGAGAGGGGGTTGTGAGGGGGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGGGGGGGTGAGAAGGGGAGTGAGAGAG GGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGTGAGAGGGG TTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	228	0.0044	602	c.47 others(613): Show c.4725_*4726insGAAGGGGAGTGAAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGATGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGAAGTGA GAGTGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGG GCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTTGTGA GGGGGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGGGGGGTGAGA AGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGGTGAGAGGGGTTG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4355		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152097	A A	AGAAGGGG others(595): Show AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGATGAG AAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGCTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGT GAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGG TTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGGAGGGAGAGAGGGGT TGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0130 a0002c0002t0002g0130	1	228	0.0044	602	c.47 others(613): Show c.4725_*4726insGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGTGGGGATGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGA GAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGG GGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGG GTGAGAAGGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG GAGGGAGAGAGGGGTTGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4355		chr4	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(595): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCC CTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	246	0.0041	602	c.-10 others(619): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCT TCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(595): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGG GAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGGAGGGAGGG GAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAG GGAAGTGAAGGAAAGGGAAAGAGGGAGGGAAGGGAAGGGAAGGGAAGGGA GGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01515.hp1 HG01517.hp1 HG00741.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0002 a0001c0004t0002 a0001c0005t0002	a0001c0004t0002g0178 a0001c0005t0002g0108 a0001c0005t0002g0109 a0001c0004t0002g0178 a0001c0005t0002g0108 a0001c0005t0002g0109	3	290	0.0103	602	c.205 others(621): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCTTCCC TCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTC CCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCTCCCTC CCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCC CTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCT CCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCC CCTCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCT CCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTT CCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCT CTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCC TCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(596): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0188 a0001c0003t0004g0188	1	249	0.0040	603	c.49- others(618): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ARFRP1_chr20_63693647_63712976	63693729	A A	ACCACCTC others(596): Show ACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCAC CACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCT CCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCC ACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCACCAC CACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACCACCACCA CCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACC TCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCACCTCCAC CTCCACCACCACCACCTCCACCACCTCCACCACCACCACCACCACCACCA CCACCTCCACCACCACCACCACCACCACCTCCACCACCTCCACCTCCACC ACCACCACCACCACCACCTCCACCACCACCTCCAACTCCACCACCTCCAC CTCCACCTCCACCACCTCCACCACCACCTCCACCACCACCTCCTCCACCT CCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCTCC ACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	296	0.0034	603	c.67 others(614): Show c.6713_*6714insAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGTGGA GGTGGTGGTGGAGGTGGTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGG TGGAGGTGGTGGAGGTGGAGGTGGAGGTGGTGGAGTTGGAGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGG TGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAG GTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGAGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGG AGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTGGAGGTG GTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGT GGAGGTGGAGGTGGAGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTG GTGGTGGAGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4917		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693732	T T	TCCACCAC others(596): Show TCCACCACCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTC CACCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCA CCACCTCCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACC ACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCAC CACCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACCA CCACCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACC TCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCAC CTCCACCTCCACCACCACCACCTCCACCACCTCCACCACCACCACCACCA CCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCTCCACC TCCACCACCACCACCACCACCACCTCCACCACCACCTCCAACTCCACCAC CTCCACCTCCACCTCCACCACCACCTCCACCACCACCTCCTCCACCTCCA CCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCTCCACC TCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	296	0.0034	603	c.67 others(614): Show c.6710_*6711insTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTGGTGGTGGAGGTGGTGGAGGTGGAGGAGGTGGTGGTGGAGGTGG TGGTGGAGGTGGAGGTGGAGGTGGTGGAGTTGGAGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGG TGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAG GTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGG TGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTGGAGGTGGTGGTG GTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGT GGAGGTGGAGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTGGTG GTGGAGGTGGTGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4914		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGCGAGCA others(596): Show GGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCTCACCCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTGGC GGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCTCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC CGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACATT TACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	246	0.0041	603	c.-18 others(614): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGGTGGGAAGTGCTC GCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCA CGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGC CAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGGTGGGAAGTGCTCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(596): Show GGTGAGCACTTCTCACCCCCGTGACCACGCACTGGCGGTGAGCACTTCCC ACCCCGTGACCACACACTGGCGGTGAGCACTTCTCACCCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCG AGCACTTCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCCACCC CTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATT TACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	246	0.0041	603	c.-18 others(614): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCC GCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTC ACGGGGGTGAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTG GGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCAC GGGGGTGAGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(596): Show CCGGGTTTTAAGTTTTCTTTTTTTTTTTTTTTTTTTTGGTGAAAGTTGCC ATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTCACAT GTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTCATTT GCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTGCAGA TAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATAGGTA GTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTTCGTG AGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTGATAC AGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGAATCA CAGTGTTATATTTATTTCCACATATTCTATGTTAATAATATAATTTTTAA TTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATGCAGC TCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAGCTTT TATATTTAGATTTAAATATTTCAGTTGCTTTTTTTTTTTTTTTTTTTTTA CTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18968.hp1 NA18986.hp1 NA18966.hp1 NA18968.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0002 a0001c0002t0002 a0001c0006t0002	a0001c0002t0002g0044 a0001c0002t0002g0053 a0001c0006t0002g0288 a0001c0002t0002g0044 a0001c0002t0002g0053 a0001c0006t0002g0288	3	358	0.0084	603	c.122 others(620): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAGC AACTGAAATATTTAAATCTAAATATAAAAGCTATTTTTAAATGGCTGAAA TTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATACTTATAGCAGTTAT TGAATGAAAACTTAAAATACATGGAATTAAAAATTATATTATTAACATAG AATATGTGGAAATAAATATAACACTGTGATTCACAGAACTGGCTGTACTA TCTTATGAATCTGCAACAAATTGTCTGTATCAAAATTTCTTAGTCTGTAA GGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTGGAGATAATGCTCT CCTCTGATCACACAGTTGTTACTTACTACCTATGTGACCTTTGGTAAAGT ATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAATGGGAATAATCATGT ATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTATGCATTTATATTAA TAAAATATTAAGCACCTGTGTAACACATGTGAAGTGAAACATATGTATTT ATTTTTAATGATAATAAACAATTAATGGCAACTTTCACCAAAAAAAAAAA AAAAAAAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049764	T T	TGGGGGGC others(596): Show TGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGC AGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGA ACACATGGGGGCAGAGGAGAATACATGGGGGCAGAGGAGAACACATGGGG GGCAGAGGGGGAACACATGGGGGCAGAGGAGAATACATGGGGGCAGAGGA GAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAATACAT GGGGGGCAGAGGAGAATACATGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGAGAATA CATGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGG GCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGG GAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAATACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0007	1	308	0.0033	603	c.49 others(614): Show c.4966_*4967insCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCT CTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCC CCCCATGTATTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGT GTTCTCCTCTGCCCTCCATGTATTCTCCTCTGCCCCCATGTGTTCCCCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCA TGTATTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCCATGTGTTCT CCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTATTCTCCTCTGCCC CCATGTGTTCCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTAT TCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTG CCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCAT GTGTTCCCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2339		chr8	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(596): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCA GCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	391	0.0026	603	c.36 others(614): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C1QTNF12_chr1_1237453_1251722	1249343	C C	CACGGGCA others(596): Show CACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCC GCCCTACAGGCCGGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAG GCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGA GGCTGGGAGACCGAGGGAGGGCTGGGCCTCCCACTCCGCCCTACAGGCCG GGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCAC TCCGCCCTACAGGCCGGGACACGGGCAGCCCCTGGGAGGCTGGACCGAGG GGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACAACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCCACTCCGCCCTACAGGC CGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCC ACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAG GGAGGCTGGGCCTCCCACTCCGCCCTACAGGCGGGCACACGGGCAGCCCT GGGAGGCTGGACGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0031	603	c.-26 others(614): Show c.-2654_-2653insTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAG CCTCCCTCGTCCAGCCTCCCAGGGCTGCCCGTGTGCCCGCCTGTAGGGCG GAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGT CCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTC CCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGGAGGCCCAGCC TCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTTGTCCCGGCCTGTAGGGCG GAGTGGGAGGCCCAGCCTCCCCTCGGTCCAGCCTCCCAGGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCC TCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGC CCTCCCTCGGTCTCCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCA GCCTCCCAGGGCTGCCCGT	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2622		chr1	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGAGGG others(596): Show CGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAG GGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGG AGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCG GGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGG AGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGG AGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAG GGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGG ACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGG AGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGA GGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0040 a0002c0007t0001g0121 a0002c0007t0001g0040 a0002c0007t0001g0121	2	410	0.0049	603	c.465 others(618): Show c.465+126_465+127insTCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCT CCGTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC CTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCG CCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCC CGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCT CCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC GTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGT CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCC CTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCT CCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCC GTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCT CCCTCCCTCCGTCCCGCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(596): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTATATATATAATATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	396	0.0025	603	c.349 others(618): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTATATATATAATATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(596): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTGTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	396	0.0025	603	c.349 others(618): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTGTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(596): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(64): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG01261.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp2 NA18612.hp2 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19060.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0020 others(1): Show a0001c0001 a0001c0002 a0001c0020 a0006c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0038 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0038 a0001c0002t0003 a0001c0020t0001 a0006c0021t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(57): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0343 a0001c0001t0001g0357 a0001c0001t0002g0164 a0001c0001t0038g0208 a0001c0002t0003g0193 a0001c0020t0001g0361 a0006c0021t0001g0132	67	396	0.1692	603	c.349 others(618): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(596): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT ACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18994.hp1 HG03669.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0174 a0001c0001t0001g0186	2	396	0.0051	603	c.349 others(618): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT ACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(596): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATAGTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	396	0.0025	603	c.349 others(618): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATAGTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(596): Show CACTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	396	0.0025	603	c.349 others(618): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCTCCC others(596): Show CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCCTCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCACTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	256	0.0039	603	c.-45 others(624): Show c.-455+14562_-455+14563insTCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT CCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCCTCCCCACTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCTTCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(596): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCC CTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	256	0.0039	603	c.-45 others(624): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC CCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCC CCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(596): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCC TTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01074.hp2 others(5): Show HG00323.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp2 HG01258.hp1 HG02300.hp2 HG03927.hp2 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0002g0002 others(3): Show a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0002g0002 a0002c0001t0002g0003 a0002c0001t0002g0007 a0002c0001t0002g0017	8	354	0.0226	603	c.69 others(614): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCC TTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(596): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATAAAA TTATATATATTTATATATAAACATATATAATTTTATATATAAATATATAT AATTTTATATATAAATATATATATAATTTTATATATTTATATATAAATAT AATTTTATGTATAAATATATATAATTATATATATTTATATATAATTTTAT ATATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATAT ATAAATATATATAATTATATATATAATTATATATAAATATATATAATTAT ATATATTTATATATAAATATATATAATTTTATATATAATATATATAATTT TATATATTTATATATAAATATATATATAATTTATATATAAATATATAAAA TTATATATAAATATATATAATTTATATATAAATATGTATAATTTTATATA TAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTAT ATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATAA ATATATACAAATATATATATAAATTTATATAAATATATATAAATATATAC AAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18906.hp1 HG03041.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0015 a0001c0005 a0002c0015	a0001c0005t0010 a0002c0015t0003 a0001c0005t0010 a0002c0015t0003	a0001c0005t0010g0001 a0002c0015t0003g0103 a0001c0005t0010g0001 a0002c0015t0003g0103	2	116	0.0172	603	c.56- others(620): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATAAAATTATATATATTTATATATAAACATATATA ATTTTATATATAAATATATATAATTTTATATATAAATATATATATAATTT TATATATTTATATATAAATATAATTTTATGTATAAATATATATAATTATA TATATTTATATATAATTTTATATATAAATATATATAATTATATATATTTA TGTATAAATATAATTTTATATATAAATATATATAATTATATATATAATTA TATATAAATATATATAATTATATATATTTATATATAAATATATATAATTT TATATATAATATATATAATTTTATATATTTATATATAAATATATATATAA TTTATATATAAATATATAAAATTATATATAAATATATATAATTTATATAT AAATATGTATAATTTTATATATAAATAGATATAATTTTATATATTTATTT ATATAAATTTTATATATTTATATAAATAAATATATATTTATATATAAAAA TTTATATACAAATATATATAAATATATACAAATATATATATAAATTTATA TAAATATATATAAATATATACAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(596): Show AATAAATATATATAGAATATATATAAATATAAATATATATATAAATATGT AATTATAAATATATATGTAAATACATATAAATATAAATATATTTATAAAT ATATAAAATATATATAAAAATATATATAAATATATAAAAATATATAAATA TATATAAATATATAAATATATGTAAATATATATAAATATATATATAAATA TATATATAATATATATATATAAATATATATAAATATATAACTATACAAAT AAATATATATAAATATATAAATATATAAAAATATATATAAATATATATGT AAATATATAAATATATATATAAATATATATAAATATATATAAGTATATAA ATATATATAAATATATATAAGTATATAAATATATATATAAATATATATAA GTATATAAATATATATATATAAATATATATAAGTATATAAATATATATAA ATATATATAAGTATATAAATATATATATAAATATATATAAGTATATATAA ATATATATAAATATATATAAGTATATATAAATATATATAAGTATATATAA ATATATATAAATATATATAAGTATATATAAATATATATAAATATATATAA GTAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0004 a0004c0016t0004	a0004c0016t0004g0079 a0004c0016t0004g0079	1	264	0.0038	603	c.181 others(622): Show c.1812+3391_1812+3392insATACTTATATATATTTATATATATTT ATATATACTTATATATATTTATATATATTTATATATACTTATATATATTT ATATATACTTATATATATTTATATATATTTATATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATTTATATACTTAT ATATATTTATATATATATATTTATATACTTATATATATTTATATATATAT TTATATACTTATATATATTTATATATATTTATATACTTATATATATTTAT ATATATTTATATATATATTTATATATTTACATATATATTTATATATATTT TTATATATTTATATATTTATATATATTTATTTGTATAGTTATATATTTAT ATATATTTATATATATATATTATATATATATTTATATATATATTTATATA TATTTACATATATTTATATATTTATATATATTTATATATTTTTATATATT TATATATATTTTTATATATATTTTATATATTTATAAATATATTTATATTT ATATGTATTTACATATATATTTATAATTACATATTTATATATATATTTAT ATTTATATATATTCTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098670	T T	TATAAATA others(596): Show TATAAATAAATATATATATAAATATATAAAAATATATATATAAATATATA TATAAATATATATAAATATATAAATATATATAAATATATATAAATATATA TAAATATATAAATATATATAAATATATAAATATATAAAATATATATAAAT ATGTATAAATATATATAAATATATAAATATATAAAAATATATATAAATAT ATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATAT AAGTATATATAAATATATATAAATATATGCAAATATATATAAATATATAT ATAAATAGATATATAAATATATATAAATAGATATAAATAGATATATAAAT ACATATATAAATATATATAAATACATATATAAATATATATAAATATATAA ATTTATATGAATACATATATAAATATATAAATAAATATATATAAATATAT AAATATGTATAAATATATAAATATATATAAATATATATATAAATATATAA ATATATAAATATATATAAATATATAAATATATATAAATATATAAATATAT AAATATATATAAATATATATGTAAATATATAAATATATATAAATATATAT GTAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0010 a0001c0014t0010	a0001c0014t0010g0010 a0001c0014t0010g0010	1	264	0.0038	603	c.181 others(622): Show c.1812+2801_1812+2802insTTACATATATATTTATATATATTTAT ATATTTACATATATATTTATATATATTTATATATTTATATATTTATATAT ATTTATATATTTATATATATTTATATATTTATATATTTATATATATATTT ATATATATTTATATATTTATACATATTTATATATTTATATATATTTATTT ATATATTTATATATGTATTCATATAAATTTATATATTTATATATATTTAT ATATGTATTTATATATATTTATATATGTATTTATATATCTATTTATATCT ATTTATATATATTTATATATCTATTTATATATATATTTATATATATTTGC ATATATTTATATATATTTATATATACTTATATATACTTATATATATTTAT ATATATTTATATACTTATATATATTTATATATTTATATATATTTTTATAT ATTTATATATTTATATATATTTATACATATTTATATATATTTTATATATT TATATATTTATATATATTTATATATTTATATATATTTATATATATTTATA TATATTTATATATTTATATATATTTATATATATATTTATATATATATTTT TATATATTTATATATATATTTATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(596): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCTC AGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTAA TTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATG GTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTGC TGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTATCTTTTTAAAAGA CAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGT GATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACT GAAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01074.hp1 others(26): Show HG00639.hp1 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01243.hp1 HG01346.hp2 HG01943.hp1 HG02129.hp1 HG02257.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03831.hp2 HG04204.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0006t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0101 others(26): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0101 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0004g0254 a0001c0003t0001g0187 a0001c0003t0001g0195 a0001c0006t0001g0182 a0001c0006t0001g0183	29	334	0.0868	603	c.123 others(622): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGC AGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCA TTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACC ACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATG TTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGC CTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTAT CTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGA CCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGA GATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(596): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCTC AGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTAA TTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATG GTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTGC TGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTATCTTTTTAAAAGA CAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGT GATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCGCT GAAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG02486.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0266 a0001c0002t0001g0267	2	334	0.0060	603	c.123 others(622): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGC AGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCA TTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACC ACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATG TTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGC CTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTTTAT CTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGA CCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGA GATGGCGCCGCTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(596): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCTC AGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTAA TTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATG GTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTGC TGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAGA CAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCAAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGT GATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACT GAAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	334	0.0030	603	c.123 others(622): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGC AGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCA TTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACC ACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATG TTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGC CTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTAT CTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCAAGA CCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGA GATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(596): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCCTC AGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTAA TTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATG GTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTGC TGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAGA CAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGT GATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACT GAAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01123.hp1 HG01496.hp2 others(23): Show HG01069.hp1 HG01123.hp1 HG01496.hp2 HG02055.hp1 HG02109.hp1 HG02602.hp1 HG03688.hp1 HG03831.hp1 NA18612.hp2 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18968.hp2 NA18983.hp2 NA18995.hp2 NA19004.hp2 NA19011.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0002t0001g0236 a0001c0002t0001g0276 others(23): Show a0001c0001t0001g0019 a0001c0002t0001g0236 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300	26	334	0.0778	603	c.123 others(622): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGC AGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCA TTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACC ACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATG TTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGC CTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTAT CTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGA CCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGA GATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(596): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATC TCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTTCTGCCTC AGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCTAA TTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATG GTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGTGC TGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAAGA CAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGT GATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACT GAAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	334	0.0030	603	c.123 others(622): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGC AGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCA TTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACC ACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATG TTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGC CTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTAT CTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGA CCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGA GATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(596): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	367	0.0027	603	c.-42 others(614): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCCT others(596): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTC CATG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	250	0.0040	603	c.-10 others(622): Show c.-107+5533_-107+5534insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC TCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 10000 hits)