Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TCF3_chr19_1604292_1657615	1627910	A A	ACGGGGTG others(368): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGTGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACA GCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGG TGAGGTGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0134 a0001c0004t0011g0134	1	352	0.0028	375	c.299 others(390): Show c.299-485_299-484insAGTTCTGCTGTCCCCTTCCCACCTCACCCC GTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCTGCTGTC CCCTTCCCACCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTG CTGTCCCCTTCCCACCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCAC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCT CTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCC GCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628671	G G	GTGAGGCG others(368): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGGGTGGG AAGGGGACAGCAGAGCTCACAGGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0348 a0001c0001t0036g0348	1	352	0.0028	375	c.299 others(392): Show c.299-1246_299-1245insTCCCCTGTGAGCTCTGCTGTCCCCTTCC CACCCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272573	C C	CCACACAT others(368): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGACTG CCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTG TGACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	392	0.0026	375	c.228 others(392): Show c.2287-294_2287-293insTGGTGACTGTGGATGGTGATCGGTCACA GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCA GTCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TRIM58_chr1_247852187_247885138	247870376	A A	AGTATCAG others(368): Show AGTATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCATGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATA GAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCATGGCCACCCATA GAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAG AACGAGGATTAGTATATTCATGAGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02615.hp1 others(5): Show HG02257.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02895.hp2 HG02922.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0029 a0002c0003 a0002c0007 others(1): Show a0001c0029 a0002c0003 a0002c0007 a0002c0023	a0001c0029t0030 a0002c0003t0016 a0002c0007t0016 others(2): Show a0001c0029t0030 a0002c0003t0016 a0002c0007t0016 a0002c0023t0030 a0002c0023t0050	a0001c0029t0030g0226 a0002c0003t0016g0068 a0002c0007t0016g0029 others(4): Show a0001c0029t0030g0226 a0002c0003t0016g0068 a0002c0007t0016g0029 a0002c0007t0016g0070 a0002c0007t0016g0071 a0002c0023t0030g0301 a0002c0023t0050g0300	8	454	0.0176	375	c.871 others(392): Show c.871+2325_871+2326insTGGCCACCCATAGAGCCTGCACCACCAT GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCATGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870773	G G	GTAGAGCC others(368): Show GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCAGTATCAGAGTCACGGCCACCCGTAGAGACTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCC GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGGCCACCC ATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCCGTATCAGAGTCACGGCCACCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01993.hp2 HG02004.hp1 others(2): Show HG01255.hp2 HG01993.hp2 HG02004.hp1 HG02273.hp2 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0063 a0002c0003t0006g0273 a0002c0003t0006g0277 others(1): Show a0002c0003t0006g0063 a0002c0003t0006g0273 a0002c0003t0006g0277 a0002c0003t0006g0280	5	454	0.0110	375	c.871 others(392): Show c.871+2775_871+2776insCGGCCACCCGTAGAGACTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870773	G G	GTAGAGCC others(368): Show GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCC ATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGGCCACCC GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCCGTATCAGAGTCACGGCCACCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02897.hp1 others(4): Show HG02615.hp2 HG02723.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0020 a0001c0011t0035 a0001c0011t0020 a0001c0011t0035	a0001c0011t0020g0077 a0001c0011t0020g0078 a0001c0011t0020g0201 others(4): Show a0001c0011t0020g0077 a0001c0011t0020g0078 a0001c0011t0020g0201 a0001c0011t0020g0204 a0001c0011t0020g0302 a0001c0011t0035g0079 a0001c0011t0035g0202	7	454	0.0154	375	c.871 others(392): Show c.871+2775_871+2776insCGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870773	G G	GTAGAGCC others(368): Show GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCC GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCGGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGGCCACCC ATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCCGTATCAGAGTCACGGCCACCCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0023 a0002c0007t0023	a0002c0007t0023g0216 a0002c0007t0023g0216	1	454	0.0022	375	c.871 others(392): Show c.871+2775_871+2776insCGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCGGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870773	G G	GTAGAGCC others(368): Show GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCC GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCGGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGGCCACCC GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCCGTATCAGAGTCACGGCCACCCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG01891.hp1 HG02486.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0052 a0001c0009t0067 a0001c0008t0052 a0001c0009t0067	a0001c0008t0052g0137 a0001c0009t0067g0303 a0001c0008t0052g0137 a0001c0009t0067g0303	2	454	0.0044	375	c.871 others(392): Show c.871+2775_871+2776insCGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCGGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870976	C C	CGTATCAG others(368): Show CGTATCAGAGTCACAGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC AGTATCAGAGTCACGGCCACCTGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0157 a0004c0004t0003g0157	1	454	0.0022	375	c.871 others(392): Show c.871+2926_871+2927insAGCCACCCGTAGAGCCTGCACCACCACG CCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGC CACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCCGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACG CCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGC CACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACGGCCACCTGTAGAGCCTGCACCACCACG CCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCAC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870976	C C	CGTATCAG others(368): Show CGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC AGTATCAGAGTCACGGCCACCTGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01109.hp1 others(26): Show HG00597.hp1 HG00621.hp2 HG01109.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02698.hp1 HG02738.hp1 HG03017.hp1 HG03710.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18956.hp2 NA18957.hp1 NA18963.hp2 NA18981.hp1 NA18982.hp2 NA19001.hp2 NA19010.hp1 NA19055.hp1 NA19075.hp1 NA19080.hp2 NA20300.hp2	a0003 a0004 a0007 others(1): Show a0003 a0004 a0007 a0021	a0003c0021 a0004c0004 a0007c0024 others(1): Show a0003c0021 a0004c0004 a0007c0024 a0021c0034	a0003c0021t0001 a0004c0004t0003 a0004c0004t0005 others(4): Show a0003c0021t0001 a0004c0004t0003 a0004c0004t0005 a0004c0004t0068 a0004c0004t0072 a0007c0024t0073 a0021c0034t0003	a0003c0021t0001g0098 a0004c0004t0003g0004 a0004c0004t0003g0093 others(19): Show a0003c0021t0001g0098 a0004c0004t0003g0004 a0004c0004t0003g0093 a0004c0004t0003g0094 a0004c0004t0003g0109 a0004c0004t0003g0155 a0004c0004t0003g0159 a0004c0004t0003g0168 a0004c0004t0003g0188 a0004c0004t0003g0192 a0004c0004t0005g0014 a0004c0004t0005g0080 a0004c0004t0005g0097 a0004c0004t0005g0158 a0004c0004t0005g0162 a0004c0004t0005g0186 a0004c0004t0005g0187 a0004c0004t0005g0191 a0004c0004t0068g0132 a0004c0004t0072g0004 a0007c0024t0073g0239 a0021c0034t0003g0082	29	454	0.0639	375	c.871 others(392): Show c.871+2934_871+2935insGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC AGTATCAGAGTCACGGCCACCTGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM67_chr1_231157058_231226565	231202070	G G	GGAGGAGG others(368): Show GGAGGAGGAGGGGGTAGTGGAGGAGGAGGACATAGTGGAGGAGGAGGAGG AGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAA GTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGGAGGAGGAGAT GGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGAGATAATGGAGG AGGAGGAGGAGATGGAGGAGGAGGAGGAAGAGGTAGCGGAGAAGGAGGAG GTAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTGGCTGAGATAGT GGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGTAATGGAGGAGGAGG ACATAGTGGAGGAGGAGGAGGTGGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02647.hp1 others(2): Show HG02055.hp2 HG02486.hp1 HG02647.hp1 HG02965.hp1 HG02970.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0029 a0001c0004 a0006c0029	a0001c0004t0010 a0006c0029t0010 a0001c0004t0010 a0006c0029t0010	a0001c0004t0010g0007 a0001c0004t0010g0013 a0001c0004t0010g0022 others(2): Show a0001c0004t0010g0007 a0001c0004t0010g0013 a0001c0004t0010g0022 a0001c0004t0010g0027 a0006c0029t0010g0015	5	354	0.0141	375	c.153 others(392): Show c.1534+563_1534+564insGGGTAGTGGAGGAGGAGGACATAGTGGA GGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGG AGGAGGAGGAAGTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATG GAGGAGGAGATGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGA GATAATGGAGGAGGAGGAGGAGATGGAGGAGGAGGAGGAAGAGGTAGCGG AGAAGGAGGAGGTAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTG GCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGTAAT GGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAGG	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRPM7_chr15_50552158_50691797	50564256	A A	AATAAAAT others(368): Show AATAAAATAACATAACATAACATAACATAACATAACATAACATAACATAA AATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAACATAA AATAACATAAAATAACATAAAATAACATAACATAAAATAACATAACATAA AATAACATAACATAAAATAACATAACATAAAATAACATAACATAAAATAA CATAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA CATAAAATAACATAAAATAACATAAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0303 a0002c0003t0012g0303	1	352	0.0028	375	c.546 others(394): Show c.5468-2449_5468-2448insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATG TTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATT TTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATTTTATGTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATTTTAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TRPM7_chr15_50552158_50691797	50564261	A A	AATAACAT others(368): Show AATAACATAACATAACATAACATAACATAACATAACATAACATAACATAA AATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAACATAA AATAACATAAAATAACATAAAATAACATAACATAAAATAACATAACATAA AATAACATAACATAAAATAACATAACATAAAATAACATAACATAAAATAA CATAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA CATAAAATAACATAAAATAACATAAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02129.hp2 HG02074.hp1 HG02129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0058 a0002c0003t0012 a0002c0003t0058	a0002c0003t0012g0302 a0002c0003t0058g0289 a0002c0003t0012g0302 a0002c0003t0058g0289	2	352	0.0057	375	c.546 others(394): Show c.5468-2454_5468-2453insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATG TTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATT TTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATTTTATGTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TSNARE1_chr8_142207080_142408182	142260999	G G	GGGTGGGG others(368): Show GGGTGGGGAGGGAGGAGAGAGGGAGGAGAGAGACAGGAGGGAGGAAGGGA GGAGGGAAGCAGGAGGGAAGGAGAAAAGAGGGAGGAGGAGGGAGGGGTGA GGGAGGGGAGAGGGAGGGAGGGAGGAGAGAGGGAGGAAGGGAGGAGGGAA GCAGGAGGGAGGGAGGAGAGGAAGAAGGAGGAGGGAGGCAGCAGAAAGGG AGGTAGGAGGAAAGGAGGAGAGAGGGAGAAGGGAGGGAGGAGACAGGGAG GGAGAGAGGGAGGGAGGAAGAAGGGAAGGAGGAGAGAGGGAAGAGGGAGG AGAGAAGGAGGAGGGAGGAAGGAAAGAGGGAGGGAGAAAGGTAGGAGGAC GGGAGGAGAGAGGGAGGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	238	0.0042	375	c.144 others(396): Show c.1446+13781_1446+13782insTCCCTCCTCCCTCCCTCTCTCCTC CCGTCCTCCTACCTTTCTCCCTCCCTCTTTCCTTCCTCCCTCCTCCTTCT CTCCTCCCTCTTCCCTCTCTCCTCCTTCCCTTCTTCCTCCCTCCCTCTCT CCCTCCCTGTCTCCTCCCTCCCTTCTCCCTCTCTCCTCCTTTCCTCCTAC CTCCCTTTCTGCTGCCTCCCTCCTCCTTCTTCCTCTCCTCCCTCCCTCCT GCTTCCCTCCTCCCTTCCTCCCTCTCTCCTCCCTCCCTCCCTCTCCCCTC CCTCACCCCTCCCTCCTCCTCCCTCTTTTCTCCTTCCCTCCTGCTTCCCT CCTCCCTTCCTCCCTCCTGTCTCTCTCCTCCCTCTCTCCTCCCTCCCCAC C	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(368): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATATTTATGTAATATATAATATTTATATATATTT ATGTAATATATAATATTTATATATTATATTTATGTAATATATATTTATAT ATTATATTTATGTAATATATAATATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01358.hp1 HG02257.hp2 others(3): Show HG00609.hp1 HG01358.hp1 HG02257.hp2 NA18941.hp1 NA18964.hp1 NA19004.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0002c0002 a0002c0008 others(1): Show a0002c0001 a0002c0002 a0002c0008 a0003c0013	a0002c0001t0002 a0002c0001t0005 a0002c0002t0005 others(2): Show a0002c0001t0002 a0002c0001t0005 a0002c0002t0005 a0002c0008t0002 a0003c0013t0009	a0002c0001t0002g0091 a0002c0001t0002g0103 a0002c0001t0005g0125 others(3): Show a0002c0001t0002g0091 a0002c0001t0002g0103 a0002c0001t0005g0125 a0002c0002t0005g0161 a0002c0008t0002g0027 a0003c0013t0009g0098	6	204	0.0294	375	c.213 others(394): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATATATTACATAAATATAATATATAAATATTATATATTACAT AAATATATATAAATATTATATATTACATAAATATATATAAATATTATATA TTACATAAATATAATATATAAATATTATATATTACATAAATATAATATAT AAATATTATATATTACATAAATATAATATATAAATATTATATATTACATA AATATAATATATAAATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATAATATATAATATATATTATATATTACATAAATA TAATATATAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
USH2A_chr1_215617891_216428448	215646380	T T	TGTGTTTG others(368): Show TGTGTTTGCCATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0015 a0015	a0015c0064 a0015c0064	a0015c0064t0001 a0015c0064t0001	a0015c0064t0001g0051 a0015c0064t0001g0051	1	74	0.0135	375	c.147 others(396): Show c.14791+1141_14791+1142insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATGGCAAACA C	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	67/71			chr1	TogoVar
VCX3A_chrX_6528618_6540118	6533284	C C	CCCTCCCT others(368): Show CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0021 a0002c0003t0001g0021	1	74	0.0135	375	c.46 others(384): Show c.460_*461insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		333		chrX	TogoVar
WDR64_chr1_241647281_241807777	241675052	T T	TTCCTGCC others(368): Show TTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCT CCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTC CTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCC TTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCC TCCCTCCTGCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	326	0.0031	375	c.483 others(390): Show c.483+306_483+307insCCTGCCTCCCTCCCTCCTTCCTGCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCT CCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(368): Show TAATATATATATAATATATATTATATATATAATATATATATATTATATAT ATAATATATATATTTAATATATATATTATATATATAATATATATTATATA TATAATATATATATTTAATATATATTATATATATTATATATATATAATAT ATATAATATATATATAATATATATTATATATATAATATATATATATTATA TATATAATATATATATTTAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTTAATATATATTATATATATAATATATATATAA TATATATATTATATATATAATATATATATTATATATATATTATATATATA TTATATATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0019 a0019	a0019c0056 a0019c0056	a0019c0056t0001 a0019c0056t0001	a0019c0056t0001g0170 a0019c0056t0001g0170	1	330	0.0030	375	c.37 others(386): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATAATATATATA TAATATATATATAATATATATATTATATATATAATATATATATTATATAT ATATTATATATATAATATATATTAAATATATATATTATATATATAATATA TATTATATATATAATATATATATTAAATATATATATTATATATATAATAT ATATATATTATATATATAATATATATTATATATATATTATATATATTATA TATATATAATATATATAATATATATTAAATATATATATTATATATATAAT ATATATTATATATATAATATATATATTAAATATATATATTATATATATAA TATATATATATTATATATATAATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZFPM2_chr8_105313438_105809539	105380859	A A	AACATATA others(368): Show AACATATAATATATATGTTATATATATTATAATATATATAACATATAATA TATATGTTATATATATTATAATATATATAACATATAATATATATGTTATA TATATTATAATATATATAACATTAATATATATGTTATATATATTATAATA TATATAACATATAATATATATGTTATATATATTATAATATATATAACATA TATGTTATATATATTATAATATATATAACATATAATATATATGTTATATA TATTATAATATATATAACATATAATATATATGTTATATATATTATAATAT ATATAACATATAATATATATGTTATATATATTATAATATATATAATATAT AATATATATGTTATATATATTATAAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	92	0.0109	375	c.41- others(392): Show c.41-38284_41-38283insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAACATTAATATAT ATGTTATATATATTATAATATATATAACATATAATATATATGTTATATAT ATTATAATATATATAACATATATGTTATATATATTATAATATATATAACA TATAATATATATGTTATATATATTATAATATATATAACATATAATATATA TGTTATATATATTATAATATATATAACATATAATATATATGTTATATATA TTATAATATATATAATATATAATATATATGTTATATATATTATAATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF383_chr19_37213214_37253740	37242104	A A	ATAGATAC others(368): Show ATAGATACTATACTATATATGGTATCTATACTATATATAGTATAGTATCT ATATAGTATCTATACTATATATAGTATAGTATCTATATATAGTATATATA GTTTCTATACTATATAGTATATATAGTACTATAGTATCTAGATACTATAT ATACTATATATACTATATAAGTATACTTTTATAGTATATATAGATACTAC ATATAGTATCTATATCTATATATGTCTAAGATATATCATATCTATATAAG TATACTTATATAGTATATATAGATACTATAGTATACTTATATATAGATAC TATAGTATACATATATAAGTATACTTATATAGATATGTGATATATCTTAG ACATATATAGATATAGATACTATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp1 HG01169.hp1 others(3): Show HG00140.hp1 HG01167.hp1 HG01169.hp1 HG02523.hp2 HG02698.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0042 a0001c0001t0006 a0001c0001t0018 a0001c0001t0042	a0001c0001t0006g0204 a0001c0001t0006g0222 a0001c0001t0006g0225 others(3): Show a0001c0001t0006g0204 a0001c0001t0006g0222 a0001c0001t0006g0225 a0001c0001t0018g0184 a0001c0001t0018g0186 a0001c0001t0042g0071	6	404	0.0149	375	c.233 others(390): Show c.233-362_233-361insATACTATACTATATATGGTATCTATACTAT ATATAGTATAGTATCTATATAGTATCTATACTATATATAGTATAGTATCT ATATATAGTATATATAGTTTCTATACTATATAGTATATATAGTACTATAG TATCTAGATACTATATATACTATATATACTATATAAGTATACTTTTATAG TATATATAGATACTACATATAGTATCTATATCTATATATGTCTAAGATAT ATCATATCTATATAAGTATACTTATATAGTATATATAGATACTATAGTAT ACTTATATATAGATACTATAGTATACATATATAAGTATACTTATATAGAT ATGTGATATATCTTAGACATATATAGATATAGATACTATATGTAG	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF383_chr19_37213214_37253740	37242104	A A	ATAGATAC others(368): Show ATAGATACTATACTATATATGGTATCTATACTATATATAGTATAGTATCT ATATAGTATCTATACTATATATAGTATAGTATCTATATATAGTATATATA GTTTCTATACTATATAGTATATATAGTACTATAGTATCTAGATACTATAT ATACTATATATACTATATAAGTATACTTTTATAGTATATATAGATACTAC ATATAGTATCTATATCTATATATGTCTAAGATATATCATATCTATATAAG TATACTTATATAGTATATATAGATACTATAGTATACTTATATATAGATAC TATAGTATACTTATATAAGTATACTTATATAGATATGTGATATATCTTAG ACATATATAGATATAGATACTATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(235): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(65): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0094 a0001c0001t0097 a0001c0003t0012 a0002c0002t0004	a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0020 others(192): Show a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0104 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0246 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0268 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0003g0009 a0001c0001t0003g0024 a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0004g0059 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0094 a0001c0001t0006g0008 a0001c0001t0006g0044 a0001c0001t0006g0195 a0001c0001t0006g0201 a0001c0001t0006g0207 a0001c0001t0006g0223 a0001c0001t0006g0226 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0261 a0001c0001t0006g0263 a0001c0001t0006g0273 a0001c0001t0007g0002 a0001c0001t0007g0021 a0001c0001t0007g0047 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0060 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0008g0019 a0001c0001t0008g0044 a0001c0001t0008g0241 a0001c0001t0008g0244 a0001c0001t0008g0251 a0001c0001t0008g0262 a0001c0001t0008g0267 a0001c0001t0008g0275 a0001c0001t0008g0290 a0001c0001t0012g0006 a0001c0001t0012g0014 a0001c0001t0012g0023 a0001c0001t0012g0070 a0001c0001t0012g0083 a0001c0001t0013g0005 a0001c0001t0013g0049 a0001c0001t0013g0050 a0001c0001t0013g0051 a0001c0001t0013g0058 a0001c0001t0013g0061 a0001c0001t0013g0062 a0001c0001t0013g0088 a0001c0001t0014g0017 a0001c0001t0014g0193 a0001c0001t0014g0220 a0001c0001t0014g0235 a0001c0001t0014g0236 a0001c0001t0014g0238 a0001c0001t0015g0005 a0001c0001t0016g0014 a0001c0001t0016g0055 a0001c0001t0016g0056 a0001c0001t0016g0074 a0001c0001t0016g0076 a0001c0001t0016g0077 a0001c0001t0016g0082 a0001c0001t0017g0007 a0001c0001t0017g0105 a0001c0001t0017g0106 a0001c0001t0018g0185 a0001c0001t0018g0187 a0001c0001t0018g0188 a0001c0001t0018g0189 a0001c0001t0018g0288 a0001c0001t0019g0045 a0001c0001t0019g0242 a0001c0001t0019g0247 a0001c0001t0019g0257 a0001c0001t0019g0271 a0001c0001t0019g0272 a0001c0001t0020g0013 a0001c0001t0020g0178 a0001c0001t0020g0179 a0001c0001t0020g0180 a0001c0001t0021g0026 a0001c0001t0022g0046 a0001c0001t0022g0281 a0001c0001t0022g0284 a0001c0001t0022g0285 a0001c0001t0023g0227 a0001c0001t0023g0228 a0001c0001t0023g0230 a0001c0001t0023g0232 a0001c0001t0023g0233 a0001c0001t0024g0023 a0001c0001t0025g0016 a0001c0001t0025g0176 a0001c0001t0026g0208 a0001c0001t0026g0209 a0001c0001t0026g0216 a0001c0001t0027g0095 a0001c0001t0027g0098 a0001c0001t0027g0099 a0001c0001t0029g0259 a0001c0001t0029g0287 a0001c0001t0030g0107 a0001c0001t0030g0108 a0001c0001t0031g0125 a0001c0001t0031g0190 a0001c0001t0032g0229 a0001c0001t0033g0008 a0001c0001t0033g0217 a0001c0001t0034g0101 a0001c0001t0034g0103 a0001c0001t0035g0239 a0001c0001t0035g0240 a0001c0001t0036g0265 a0001c0001t0036g0269 a0001c0001t0037g0065 a0001c0001t0042g0006 a0001c0001t0047g0274 a0001c0001t0048g0203 a0001c0001t0049g0237 a0001c0001t0050g0200 a0001c0001t0051g0286 a0001c0001t0052g0282 a0001c0001t0053g0280 a0001c0001t0054g0283 a0001c0001t0055g0243 a0001c0001t0056g0231 a0001c0001t0057g0214 a0001c0001t0058g0124 a0001c0001t0061g0270 a0001c0001t0062g0020 a0001c0001t0063g0213 a0001c0001t0064g0008 a0001c0001t0065g0210 a0001c0001t0066g0250 a0001c0001t0067g0205 a0001c0001t0068g0234 a0001c0001t0069g0292 a0001c0001t0070g0199 a0001c0001t0071g0258 a0001c0001t0072g0194 a0001c0001t0073g0264 a0001c0001t0074g0218 a0001c0001t0075g0096 a0001c0001t0077g0005 a0001c0001t0080g0002 a0001c0001t0081g0075 a0001c0001t0083g0005 a0001c0001t0094g0002 a0001c0001t0097g0252 a0001c0003t0012g0006 a0001c0003t0012g0072 a0002c0002t0004g0002	238	404	0.5891	375	c.233 others(390): Show c.233-362_233-361insATACTATACTATATATGGTATCTATACTAT ATATAGTATAGTATCTATATAGTATCTATACTATATATAGTATAGTATCT ATATATAGTATATATAGTTTCTATACTATATAGTATATATAGTACTATAG TATCTAGATACTATATATACTATATATACTATATAAGTATACTTTTATAG TATATATAGATACTACATATAGTATCTATATCTATATATGTCTAAGATAT ATCATATCTATATAAGTATACTTATATAGTATATATAGATACTATAGTAT ACTTATATATAGATACTATAGTATACTTATATAAGTATACTTATATAGAT ATGTGATATATCTTAGACATATATAGATATAGATACTATATGTAG	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF383_chr19_37213214_37253740	37242104	A A	ATAGATAC others(368): Show ATAGATACTATACTATATATGGTATCTATACTATATATAGTATAGTATCT ATATAGTATCTATACTATATATAGTATAGTATCTATATATAGTATATATA GTTTCTATACTATGTAGTATATATAGTACTATAGTATCTAGATACTATAT ATACTATATATACTATATAAGTATACTTTTATAGTATATATAGATACTAC ATATAGTATCTATATCTATATATGTCTAAGATATATCATATCTATATAAG TATACTTATATAGTATATATAGATACTATAGTATACTTATATATAGATAC TATAGTATACTTATATAAGTATACTTATATAGATATGTGATATATCTTAG ACATATATAGATATAGATACTATATG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0266 a0001c0001t0008g0266	1	404	0.0025	375	c.233 others(390): Show c.233-362_233-361insATACTATACTATATATGGTATCTATACTAT ATATAGTATAGTATCTATATAGTATCTATACTATATATAGTATAGTATCT ATATATAGTATATATAGTTTCTATACTATGTAGTATATATAGTACTATAG TATCTAGATACTATATATACTATATATACTATATAAGTATACTTTTATAG TATATATAGATACTACATATAGTATCTATATCTATATATGTCTAAGATAT ATCATATCTATATAAGTATACTTATATAGTATATATAGATACTATAGTAT ACTTATATATAGATACTATAGTATACTTATATAAGTATACTTATATAGAT ATGTGATATATCTTAGACATATATAGATATAGATACTATATGTAG	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288275	C C	CCGTGTCT others(369): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	295	0.0034	376	c.52 others(387): Show c.5288_*5289insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGAGA CACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
AK3_chr9_4704556_4746202	4713947	C C	CACACCTC others(369): Show CACACCTCCACATATACACACCTCCACATATACACGCCTCCACATATACA CGCCTCCACATATACACACCTCCACATATACGCCTACACATATACGCCTA CACATATACACCTCCACATATACACCTCCACATATACACGCCTCCACATA TACACGCCTCCACATATACACACCTACACATATACACCTACACATATACA CACCTACACATATACACGCCTACACATACACGCCTACACATATACGCCTA CACATATACACCTACACGTATACACCTCCACATATACACACCTCCACATA TACACACCTCCACATATACACACCTCCACATATACACACCTCCACATATA CACCTCCACATATACACCTCCACATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03130.hp1 HG01099.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0115 a0001c0001t0011g0116 a0001c0001t0011g0115 a0001c0001t0011g0116	2	462	0.0043	376	c.564 others(391): Show c.564-852_564-851insATATGTGGAGGTGTATATGTGGAGGTGTAT ATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATAT GTGGAGGTGTGTATATGTGGAGGTGTATACGTGTAGGTGTATATGTGTAG GCGTATATGTGTAGGCGTGTATGTGTAGGCGTGTATATGTGTAGGTGTGT ATATGTGTAGGTGTATATGTGTAGGTGTGTATATGTGGAGGCGTGTATAT GTGGAGGCGTGTATATGTGGAGGTGTATATGTGGAGGTGTATATGTGTAG GCGTATATGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGCGTGT ATATGTGGAGGCGTGTATATGTGGAGGTGTGTATATGTGGAGGTGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4713947	C C	CACACCTC others(369): Show CACACCTCCACATATACACACCTCCACATATACACGCCTCCACATATACA CGCCTCCACATATACACACCTCCACATATACGCCTACACATATACGCCTA CACATATACACCTCCACATATACACCTCCACATATACACGCCTCCACATA TACACGCCTCCACATATACACACCTACACATATACACCTACACATATACA CACCTACACATATACACGCCTACACATACACGCCTACACATATACGCCTA CACGTATACACCTACACGTATACACCTCCACATATACACACCTCCACATA TACACACCTCCACATATACACACCTCCACATATACACACCTCCACATATA CACCTCCACATATACACCTCCACATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02630.hp1 others(3): Show HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0067 a0001c0001t0011 a0001c0001t0067	a0001c0001t0011g0019 a0001c0001t0011g0020 a0001c0001t0011g0021 others(3): Show a0001c0001t0011g0019 a0001c0001t0011g0020 a0001c0001t0011g0021 a0001c0001t0011g0195 a0001c0001t0011g0300 a0001c0001t0067g0209	6	462	0.0130	376	c.564 others(391): Show c.564-852_564-851insATATGTGGAGGTGTATATGTGGAGGTGTAT ATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATAT GTGGAGGTGTGTATATGTGGAGGTGTATACGTGTAGGTGTATACGTGTAG GCGTATATGTGTAGGCGTGTATGTGTAGGCGTGTATATGTGTAGGTGTGT ATATGTGTAGGTGTATATGTGTAGGTGTGTATATGTGGAGGCGTGTATAT GTGGAGGCGTGTATATGTGGAGGTGTATATGTGGAGGTGTATATGTGTAG GCGTATATGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGCGTGT ATATGTGGAGGCGTGTATATGTGGAGGTGTGTATATGTGGAGGTGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4713947	C C	CACACCTC others(369): Show CACACCTCCACATATACACACCTCCACATATACACGCCTCCACATATACA CGCCTCCACATATACACACCTCCACATATACGCCTACACATATACGCCTA CACATATACACCTCCACATATACACCTCCACATATACACGCCTCCACATA TACACGCCTCCACATATACACACCTACACATATACACCTACACATATACA CGCCTACACATATACACGCCTACACATACACGCCTACACATATACGCCTA CACGTATACACCTACACGTATACACCTCCACATATACACACCTCCACATA TACACACCTCCACATATACACACCTCCACATATACACACCTCCACATATA CACCTCCACATATACACCTCCACATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0441 a0001c0001t0076g0441	1	462	0.0022	376	c.564 others(391): Show c.564-852_564-851insATATGTGGAGGTGTATATGTGGAGGTGTAT ATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATAT GTGGAGGTGTGTATATGTGGAGGTGTATACGTGTAGGTGTATACGTGTAG GCGTATATGTGTAGGCGTGTATGTGTAGGCGTGTATATGTGTAGGCGTGT ATATGTGTAGGTGTATATGTGTAGGTGTGTATATGTGGAGGCGTGTATAT GTGGAGGCGTGTATATGTGGAGGTGTATATGTGGAGGTGTATATGTGTAG GCGTATATGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGCGTGT ATATGTGGAGGCGTGTATATGTGGAGGTGTGTATATGTGGAGGTGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(369): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGGGAGAGGGGGAGGGGGGGAGGGGGGGGAGGGGGGGAGGGGGGGA GGGGGGAGGGGGAGGGGAGGGGGAGGGGGGGAGGAGGGGGAGGAGGAGGA GGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GGGGAGGAGGAGGAGGGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	301	0.0033	376	c.125 others(397): Show c.1252-13412_1252-13411insTCCTCCTCCCCCCTCCTCCTCCTC CCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC TCCTCCTCCTCCTCCCCCTCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCC CCCTCCCCCCCTCCCCCCCTCCCCCCCCTCCCCCCCTCCCCCTCTCCCCC CCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCT TCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCT TCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACC TCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCT CC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALLC_chr2_3653200_3707671	3690284	C C	CCCCCTCC others(369): Show CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCTCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0236 a0002c0005t0001g0236	1	274	0.0037	376	c.512 others(393): Show c.512-5424_512-5423insCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCTCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406228	C C	CGTCTTCC others(369): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAG TGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TCACTGAGTGGACCTCTGTGACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0054 a0002c0005t0001g0054	1	210	0.0048	376	c.29 others(387): Show c.2901_*2902insGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT CACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCA GTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		551		chr2	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(369): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATTCATATATATCATATAT GATATATATGAATATATATATCATATATGATATATATGAATATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATGATATAT ATATCATATATTATATATGATATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATGAATATATATATCATATATGATATATA TGAATATATATATCATATATGATATATATATTCATATATATCATATATGA TATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0241 a0002c0001t0002g0241	1	356	0.0028	376	c.924 others(393): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATAATATATGATATA TATATCATATATATCATATATGATATATATGAATATATATATCATATATG ATATATATATTCATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATGAATATATATCATATATGATATATATATTCATATAT ATCATATATGATATATATATTCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP10A_chr15_25673712_25868327	25758516	T T	TCACCTGC others(369): Show TCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCC GATCACCTGCTCCACCCTCATTCCGAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0106 a0011c0008t0001g0118 a0011c0008t0001g0106 a0011c0008t0001g0118	2	300	0.0067	376	c.655 others(395): Show c.655-22376_655-22375insGTCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCG GAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758781	A A	ACTCATTC others(369): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	300	0.0033	376	c.654 others(395): Show c.654+22237_654+22238insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	83022743	G G	GACTGTCC others(369): Show GACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCAC TGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGT CCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGGACTGTCCC CGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGG CCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCC ACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACC TGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGC ACCAGCGTGAACTCACGTTAGCTTAGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp1 NA19240.hp2 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0016 a0001c0014t0018 a0001c0002t0016 a0001c0014t0018	a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0014t0018g0049 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0014t0018g0049	3	266	0.0113	376	c.298 others(393): Show c.298-8225_298-8224insGCTAAGCTAACGTGAGTTCACGCTGGTG CAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAG GTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTG GGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGC CGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGG GGACAGTCCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGA CAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAG TGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023224	G G	GCCCACCT others(369): Show GCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCC CACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCACCTG CACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACGTTAGCTTAGGACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGT GAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGCGTGAA CTCACGTTAGCTTAGCACTGTCCCCGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0110	1	266	0.0038	376	c.298 others(393): Show c.298-8706_298-8705insGCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCA CGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTCCTAAGCTAACGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGC AGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGG TGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGG GGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAIAP3_chr16_1328645_1354439	1339871	A A	AGACACGC others(369): Show AGACACGCACACAGGCTGCAGGTGCACACAGACACGCACACAGGCTGCAG GTGCACACAGACACGCACACAGGCTGCAGGTGCACACAGACGCACGCACA CACACAGGCTGCAGGTGCACACAGATGCACACGCACACAGGCTGCAGGTG CACACAGACACACGCACACAGGCTGTAGGTGCACACAGACACGCACACAC ACAGGCTGCAGGTGCACACAGACACAGGCACACAGGCTGCAGGTGCACAC AGATGCACAGGCACACAGGCTGCAGGTGCACACAGACACAGGCACACAGG CTGCAGGTGCACACAGACACACGCACACAGGCTGCAGGTGCACACAGACA CACGCACACAGGCTGCAGGTGCACACG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp1 HG01123.hp2 others(11): Show HG00642.hp2 HG01071.hp1 HG01123.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp1 HG02148.hp1 HG02273.hp2 NA18940.hp1 NA18978.hp1 NA18980.hp1 NA19011.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0032 a0001c0002t0002g0051 others(2): Show a0001c0002t0002g0003 a0001c0002t0002g0032 a0001c0002t0002g0051 a0001c0002t0002g0069 a0001c0002t0002g0070	14	358	0.0391	376	c.408 others(391): Show c.408+273_408+274insGCACACAGGCTGCAGGTGCACACAGACACG CACACAGGCTGCAGGTGCACACAGACACGCACACAGGCTGCAGGTGCACA CAGACGCACGCACACACACAGGCTGCAGGTGCACACAGATGCACACGCAC ACAGGCTGCAGGTGCACACAGACACACGCACACAGGCTGTAGGTGCACAC AGACACGCACACACACAGGCTGCAGGTGCACACAGACACAGGCACACAGG CTGCAGGTGCACACAGATGCACAGGCACACAGGCTGCAGGTGCACACAGA CACAGGCACACAGGCTGCAGGTGCACACAGACACACGCACACAGGCTGCA GGTGCACACAGACACACGCACACAGGCTGCAGGTGCACACGGACAC	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(369): Show AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTG CGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGG TCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCT GGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0041 a0001c0001t0059g0041	1	360	0.0028	376	c.92- others(391): Show c.92-2880_92-2879insGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGT TTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTT GCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCC ACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACT GTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTG CTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(369): Show AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTG CGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGG TCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCT GGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0022 a0022	a0022c0020 a0022c0020	a0022c0020t0002 a0022c0020t0002	a0022c0020t0002g0319 a0022c0020t0002g0319	1	360	0.0028	376	c.92- others(391): Show c.92-2880_92-2879insGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCGGGT TTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTT GCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCC ACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACT GTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTG CTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(369): Show AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAG CGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTG CGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGG TCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCT GGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG04115.hp1 HG00140.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0016 a0001c0001t0004 a0002c0002t0016	a0001c0001t0004g0136 a0002c0002t0016g0284 a0001c0001t0004g0136 a0002c0002t0016g0284	2	360	0.0056	376	c.92- others(391): Show c.92-2880_92-2879insGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG GGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGT TTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTT GCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCC ACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACT GTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTG CTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(369): Show AGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAG CGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTG CGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGG TCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCT GGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19030.hp1 HG03239.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0254 a0002c0002t0023g0255 a0002c0002t0023g0254 a0002c0002t0023g0255	2	360	0.0056	376	c.92- others(391): Show c.92-2895_92-2894insGGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCT TCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCT GCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCG GTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTC TGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGG TCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG GGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(369): Show AGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGT GAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAG CGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTG CGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGG TCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCT GGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0116 a0002c0002t0008g0116	1	360	0.0028	376	c.92- others(391): Show c.92-2895_92-2894insGGGTTTTGCCACTGTGCTCAGCGGTGAGCG TCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCT TCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCT GCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCG GTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTC TGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGG TCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG GGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSND_chr1_54993933_55022172	55003035	G G	GATAGTGA others(369): Show GATAGTGATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGAT GGTGAGAATGGTAATGGTGATGATAATAGTGATGATGATGGTGAGGATGG TGATGGTGAAGATGGTGATGATGAGATTGGTGATAGAATGGTGATGGTAA TGACGATGTTGATGGTAATGAAGATGTCAATGATGGTGATGTGATGATAA TGATGGTAACGGTTATGATGATGGTGATGGTGATAATGATAATGGTGATG ATGGTAATGGTCACGATGGTGATAGTGATGATGATAGTGGTGATAATGAT GGTGATGTTGATAATTTTGGTGGTGATAATAGTTATGGTGATGATTGATG GTAATGAGGATGAGGATGATGACGATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0260 a0001c0001t0260	a0001c0001t0260g0097 a0001c0001t0260g0097	1	448	0.0022	376	c.178 others(393): Show c.178-1985_178-1984insAGTGATGATGATGGTGATTAGGAGATGG TGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATAGTG ATGATGATGGTGAGGATGGTGATGGTGAAGATGGTGATGATGAGATTGGT GATAGAATGGTGATGGTAATGACGATGTTGATGGTAATGAAGATGTCAAT GATGGTGATGTGATGATAATGATGGTAACGGTTATGATGATGGTGATGGT GATAATGATAATGGTGATGATGGTAATGGTCACGATGGTGATAGTGATGA TGATAGTGGTGATAATGATGGTGATGTTGATAATTTTGGTGGTGATAATA GTTATGGTGATGATTGATGGTAATGAGGATGAGGATGATGACGATTAT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
C4orf45_chr4_158888134_159040229	158893626	T T	TATGATCT others(369): Show TATGATCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	264	0.0038	376	c.76 others(383): Show c.76_*77insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAACAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAGATCAT	C4orf45	ENSG00000164123.7	transcript	ENST00000434826.3	protein_coding	5/5	76		chr4	TogoVar
CACNA1I_chr22_39565753_39694735	39596319	G G	GGGCAGGG others(369): Show GGGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGC AGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGG CGGAGGGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAG AGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAG ATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGG GGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGAGAGATGGCGGA GAGAGATGGGGGAGCAGGGTGGAGGGAGATGGGGGGCAGGGCGGAGGGAG ATGGGCAGGGCGGAGGGAGATGGGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	236	0.0042	376	c.237 others(393): Show c.237-1831_237-1830insGCAGGGCGGAGAGAGATGGGGGAGCAGG GCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGG AGGGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGGG AGATGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATG GGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGG AGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGGCA GGGCGGAGAGAGATGGCGGAGAGAGATGGGGGAGCAGGGTGGAGGGAGAT GGGGGGCAGGGCGGAGGGAGATGGGCAGGGCGGAGGGAGATGGGGGAG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D4_chr12_1786963_1923652	1921504	T T	TACCTGGC others(369): Show TACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATT TTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTG GCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGA AGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTGGCTGGA GCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGAAGCTGA TGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTGGCTGGAGCTGGC TTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGAAGCTGATGAATG CCACCAAATTCACAGCCACGAGGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA19077.hp1 NA18973.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0235 a0001c0002t0004g0234 a0001c0002t0002g0235 a0001c0002t0004g0234	2	318	0.0063	376	c.-30 others(387): Show c.-3032_-3031insGGGGCCTCGTGGCTGTGAATTTGGTGGCATTCAT CAGCTTCTTAAAATTTGTAATTTGGAATGATTTTTAAAATCAAGCCAGCT CCAGCCAGGTGGGGCCTCGTGGCTGTGAATTTGGTGGCATTCATCAGCTT CTTAAAATTTGTAATTTGGAATGATTTTTAAAATCAAGCCAGCTCCAGCC AGGTGGGGCCTCGTGGCTGTGAATTTGGTGGCATTCATCAGCTTCTTAAA ATTTGTAATTTGGAATGATTTTTAAAATCAAGCCAGCTCCAGCCAGGTGG GGCCTCGTGGCTGTGAATTTGGTGGCATTCATCAGCTTCTTAAAATTTGT AATTTGGAATGATTTTTAAAATCAAGCCAGCTCCAGCCAGGT	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding		2853		chr12	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(369): Show CACTATATATAGTTTATATATACTATATATACACTATATATAGTAGTTAT ATATACTACTATATATACTACTATATATAGTATATACTATATATACACTA TATATAGTAGTTATATATACTACTATATATACTACTATATATAGGATATA CTATATATACACTATATATAGCATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATACATACACTATATATAGTTTATA TATACTATATATAGTAGTTATATATACTATATATACTATATATAGTTTAT ATATAAACTATATATACTATATATAGTTTATATATAAACTATATATACTA TATATAGTAGTTATATAAACTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01884.hp1 others(9): Show HG01109.hp2 HG01243.hp2 HG01884.hp1 HG02145.hp1 HG02280.hp1 HG02647.hp2 HG02809.hp2 HG02896.hp1 HG03041.hp1 HG03130.hp1 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0010 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012	a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0272 others(9): Show a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0345 a0001c0001t0006g0264 a0001c0002t0010g0261 a0001c0002t0010g0262 a0001c0002t0010g0269 a0001c0002t0011g0237 a0001c0002t0011g0265 a0001c0002t0011g0266 a0001c0002t0012g0106	12	396	0.0303	376	c.349 others(391): Show c.349+939_349+940insTTATATATACTATATATACACTATATATAG TAGTTATATATACTACTATATATACTACTATATATAGTATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GGATATACTATATATACACTATATATAGCATATATACTATATATACACTA TATATAGTAGTTATATATACTATATATACACTATACATACACTATATATA GTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATAT AGTTTATATATAAACTATATATACTATATATAGTTTATATATAAACTATA TATACTATATATAGTAGTTATATAAACTATATATACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(369): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTA TATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTG TGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	442	0.0023	376	c.27 others(387): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGTATATACACACGTGTGTATATACGTATATACACAAGT GTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATAC GCATACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24882005	G G	GATACATC others(369): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0025 a0001c0002t0007g0025	1	440	0.0023	376	c.11 others(387): Show c.1171_*1172insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCT ATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTAT ATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATAT ATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		273		chr13	TogoVar
CFAP46_chr10_132803392_132947570	132888691	A A	ACCTTCAC others(369): Show ACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTG CACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGC CACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGC ACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCC GCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCGCCTTCA CCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGC CGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCT GCACCCCTGCCACCTTCACCCCTGCCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0130 a0010c0010t0001g0130	1	246	0.0041	376	c.330 others(395): Show c.3305-2733_3305-2732insCGGCAGGGGTGAAGGTGGCAGGGGTG CAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGC GGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGG GTGAAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGG CGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGG TGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGT GGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGT GCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHM_chrX_85856180_86052558	85911163	G G	GTGTGTAT others(369): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATATGA ATATATATATATGAATATATATATATGAATATATATATGAATATATATAT ATGAATATATATATATGAATATATATATATGAATATATATATATGAATAT ATATATATGAATATATATATGAATATATATATATGAATATATATATGAAT ATATATATATGAATATATATATATGAA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	245	0.0041	376	c.124 others(391): Show c.1244+97_1244+98insTTCATATATATATATTCATATATATATATT CATATATATATTCATATATATATATTCATATATATATTCATATATATATA TTCATATATATATATTCATATATATATATTCATATATATATATTCATATA TATATATTCATATATATATTCATATATATATATTCATATATATATATTCA TATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar

Search by Variant

Search

Search Results