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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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
TENM2_chr5_166974029_168269157	167452948	T T	TATATATA others(16): Show TATATATATATATATATATTTTAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 HG02615.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0029 a0001c0003 a0001c0029	a0001c0003t0002 a0001c0029t0003 a0001c0003t0002 a0001c0029t0003	a0001c0003t0002g0007 a0001c0029t0003g0019 a0001c0003t0002g0007 a0001c0029t0003g0019	2	54	0.0370	23	c.502 others(42): Show c.502+77489_502+77490insATATTTTAAATATATATATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167470454	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG04204.hp2 HG02615.hp2 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0024 a0001c0008t0003 a0001c0005t0024 a0001c0008t0003	a0001c0005t0024g0009 a0001c0008t0003g0029 a0001c0005t0024g0009 a0001c0008t0003g0029	2	54	0.0370	23	c.502 others(42): Show c.502+95003_502+95004insTTTTTTTTTTTTTTTTTTTTTTT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167989268	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	54	0.0185	23	c.948 others(40): Show c.948-3676_948-3675insGAGAGAGAGAGAGAGAGAGAGAG	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30			chr5	TogoVar
TENM2_chr5_166974029_168269157	168229208	A A	AAATTACC others(16): Show AAATTACCTGTCCAAGGACACGAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp2 HG01891.hp2 others(33): Show HG01081.hp1 HG01192.hp2 HG01891.hp2 HG01943.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0025 a0001c0026 a0001c0028 a0001c0030 a0001c0031 a0001c0037 a0002c0024 a0003c0014 a0003c0020 a0005c0034 a0005c0035 a0008c0036 a0009c0033	a0001c0001t0001 a0001c0001t0006 a0001c0001t0029 others(32): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0013 a0001c0002t0031 a0001c0003t0002 a0001c0004t0007 a0001c0005t0005 a0001c0005t0016 a0001c0006t0004 a0001c0007t0010 a0001c0008t0002 a0001c0008t0003 a0001c0010t0001 a0001c0012t0023 a0001c0017t0002 a0001c0018t0003 a0001c0019t0003 a0001c0022t0021 a0001c0023t0008 a0001c0025t0002 a0001c0026t0008 a0001c0028t0011 a0001c0030t0026 a0001c0031t0001 a0001c0037t0030 a0002c0024t0014 a0003c0014t0019 a0003c0020t0028 a0005c0034t0025 a0005c0035t0001 a0008c0036t0009 a0009c0033t0012	a0001c0001t0001g0045 a0001c0001t0006g0001 a0001c0001t0029g0006 others(33): Show a0001c0001t0001g0045 a0001c0001t0006g0001 a0001c0001t0029g0006 a0001c0002t0001g0044 a0001c0002t0002g0032 a0001c0002t0013g0041 a0001c0002t0031g0036 a0001c0003t0002g0007 a0001c0004t0007g0010 a0001c0005t0005g0034 a0001c0005t0016g0012 a0001c0006t0004g0026 a0001c0006t0004g0028 a0001c0007t0010g0037 a0001c0008t0002g0035 a0001c0008t0003g0029 a0001c0010t0001g0043 a0001c0012t0023g0016 a0001c0017t0002g0053 a0001c0018t0003g0023 a0001c0019t0003g0022 a0001c0022t0021g0024 a0001c0023t0008g0004 a0001c0025t0002g0052 a0001c0026t0008g0005 a0001c0028t0011g0042 a0001c0030t0026g0014 a0001c0031t0001g0050 a0001c0037t0030g0011 a0002c0024t0014g0048 a0003c0014t0019g0008 a0003c0020t0028g0013 a0005c0034t0025g0002 a0005c0035t0001g0039 a0008c0036t0009g0017 a0009c0033t0012g0046	36	54	0.6667	23	c.552 others(42): Show c.5520+1098_5520+1099insGATAATTACCTGTCCAAGGACAC	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM3_chr4_182238402_182808024	182426007	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp1 NA18522.hp2 HG02109.hp1 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0014 a0001c0018 a0001c0009 a0001c0014 a0001c0018	a0001c0009t0001 a0001c0014t0015 a0001c0018t0003 a0001c0009t0001 a0001c0014t0015 a0001c0018t0003	a0001c0009t0001g0049 a0001c0014t0015g0107 a0001c0018t0003g0054 a0001c0009t0001g0049 a0001c0014t0015g0107 a0001c0018t0003g0054	3	140	0.0214	23	c.511 others(42): Show c.511+79079_511+79101dupAAAAAAAAAAAAAAAAAAAAAAA	TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM4_chr11_78647829_79446030	79132345	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG06807.hp1 HG02717.hp2 HG02818.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0015 a0001c0002t0027 a0001c0023t0061 a0001c0001t0015 a0001c0002t0027 a0001c0023t0061	a0001c0001t0015g0076 a0001c0002t0027g0009 a0001c0023t0061g0080 a0001c0001t0015g0076 a0001c0002t0027g0009 a0001c0023t0061g0080	3	94	0.0319	23	c.-66 others(42): Show c.-66+16364_-66+16365insTTTTTTTTTTTTTTTTTTTTTTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENT2_chr5_79607441_79693246	79659553	A A	AAATGTAT others(16): Show AAATGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	344	0.0029	23	c.107 others(42): Show c.1071+2553_1071+2554insATGTATATATATATATATATATA	TENT2	ENSG00000164329.15	transcript	ENST00000453514.6	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENT2_chr5_79607441_79693246	79688942	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG02717.hp2 others(3): Show HG02486.hp2 HG02615.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0021 others(1): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0021 a0001c0001t0040	a0001c0001t0004g0029 a0001c0001t0004g0073 a0001c0001t0018g0137 others(3): Show a0001c0001t0004g0029 a0001c0001t0004g0073 a0001c0001t0018g0137 a0001c0001t0021g0112 a0001c0001t0021g0113 a0001c0001t0040g0144	6	344	0.0174	23	c.36 others(34): Show c.3669_*3670insAAAAAAAAAAAAAAAAAAAAAAA	TENT2	ENSG00000164329.15	transcript	ENST00000453514.6	protein_coding		697		chr5	TogoVar
TENT5A_chr6_81740730_81757681	81740766	C C	CATATTAT others(16): Show CATATTATATACTATATAATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0023 a0004c0004t0003g0023	1	446	0.0022	23	c.89 others(34): Show c.8906_*8928dupACATATTATATAGTATATAATAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4963		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740818	C C	CATATTAT others(16): Show CATATTATATACTATATAATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	446	0.0022	23	c.88 others(34): Show c.8854_*8876dupACATATTATATAGTATATAATAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4911		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740829	C C	CTATATAT others(16): Show CTATATATGTATCATATTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01081.hp2 others(7): Show HG00642.hp1 HG00735.hp1 HG01081.hp2 HG01255.hp2 HG01978.hp1 HG02004.hp2 HG02074.hp2 HG02148.hp1 NA18973.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0008 a0004c0004t0008 a0004c0004t0020 a0001c0001t0008 a0004c0004t0008 a0004c0004t0020	a0001c0001t0008g0030 a0004c0004t0008g0014 a0004c0004t0020g0050 a0001c0001t0008g0030 a0004c0004t0008g0014 a0004c0004t0020g0050	10	446	0.0224	23	c.88 others(34): Show c.8865_*8866insCTATATAATATGATACATATATA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4900		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740870	C C	CATATTAT others(16): Show CATATTATATACTATATAATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02622.hp1 HG02723.hp2 others(13): Show HG00741.hp1 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03017.hp1 HG03139.hp2 HG03540.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp1 NA18983.hp1 NA18987.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0004 a0001c0001t0004 a0003c0003t0004	a0001c0001t0004g0013 a0003c0003t0004g0012 a0001c0001t0004g0013 a0003c0003t0004g0012	16	446	0.0359	23	c.88 others(34): Show c.8824_*8825insACATATTATATAGTATATAATAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4859		chr6	TogoVar
TEPSIN_chr17_81223277_81244055	81243736	A A	ATGAAGGA others(16): Show ATGAAGGACAGAAATGACCAGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	366	0.0027	23	c.-47 others(34): Show c.-4704_-4703insGTCCTGGTCATTTCTGTCCTTCA	TEPSIN	ENSG00000167302.11	transcript	ENST00000637944.2	protein_coding		4682		chr17	TogoVar
TESK2_chr1_45338883_45496163	45354813	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0119 a0001c0005t0013g0119	1	286	0.0035	23	c.540 others(38): Show c.540+489_540+490insATATATATATATATATATATATA	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	5/10			chr1	TogoVar
TESK2_chr1_45338883_45496163	45354815	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	286	0.0035	23	c.540 others(38): Show c.540+487_540+488insATATATATATATATATTTTTTTT	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	5/10			chr1	TogoVar
TESK2_chr1_45338883_45496163	45452032	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19000.hp1 NA19083.hp1 NA18944.hp1 NA19000.hp1 NA19083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0158 a0001c0003t0005g0159 a0001c0003t0005g0263 a0001c0003t0005g0158 a0001c0003t0005g0159 a0001c0003t0005g0263	3	286	0.0105	23	c.222 others(40): Show c.222+5531_222+5532insTTTTTTTTTTTTTTTTTTTTTTT	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	2/10			chr1	TogoVar
TET1_chr10_68555337_68699487	68597030	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG04115.hp2 HG01934.hp1 HG04115.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0007 a0003c0004t0004 a0001c0001t0007 a0003c0004t0004	a0001c0001t0007g0204 a0003c0004t0004g0023 a0001c0001t0007g0204 a0003c0004t0004g0023	2	282	0.0071	23	c.191 others(42): Show c.1915-3930_1915-3929insTTTTTTTTTTTTTTTTTTTTTTT	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
TET2_chr4_105141876_105284803	105278203	T T	TATATATA others(16): Show TATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0021 a0001c0001t0074g0021	1	348	0.0029	23	c.16 others(34): Show c.1684_*1685insATATATATATATATATATATATA	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	11/11	1685		chr4	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0085 a0003c0003t0001g0085	1	229	0.0044	23	c.252 others(42): Show c.2521-9040_2521-9039insAAATATATATATATATATATATA	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29			chrX	TogoVar
TEX11_chrX_70523940_70913711	70750933	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18993.hp1 NA18943.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0156 a0001c0001t0001g0172	2	229	0.0087	23	c.693 others(40): Show c.693-6715_693-6714insATATATATATATATATATATATT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	9/29			chrX	TogoVar
TEX11_chrX_70523940_70913711	70750933	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	229	0.0044	23	c.693 others(40): Show c.693-6715_693-6714insATATATATATATATATATATATA	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	9/29			chrX	TogoVar
TEX22_chr14_105393538_105418859	105414844	C C	CGGGAGTG others(16): Show CGGGAGTGGGAAGGATCCTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(200): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18988.hp1 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0002c0004 others(2): Show a0001c0001 a0001c0003 a0002c0004 a0003c0006 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0003t0014 a0002c0004t0001 a0003c0006t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(126): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0024 a0001c0001t0004g0044 a0001c0001t0004g0103 a0001c0001t0004g0117 a0001c0001t0005g0042 a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0006g0023 a0001c0001t0006g0124 a0001c0001t0006g0166 a0001c0001t0007g0001 a0001c0001t0007g0034 a0001c0001t0007g0043 a0001c0001t0007g0134 a0001c0001t0009g0013 a0001c0001t0009g0029 a0001c0001t0009g0133 a0001c0001t0013g0039 a0001c0001t0019g0081 a0001c0001t0023g0077 a0001c0001t0024g0089 a0001c0001t0028g0075 a0001c0003t0014g0192 a0001c0003t0014g0193 a0002c0004t0001g0173 a0003c0006t0001g0002 a0006c0007t0001g0055	203	368	0.5516	23	c.30 others(34): Show c.3011_*3012insGGGAGTGGGAAGGATCCTGGGAG	TEX22	ENSG00000226174.7	transcript	ENST00000451127.3	protein_coding		986		chr14	TogoVar
TEX22_chr14_105393538_105418859	105414891	G G	GGGAGTGG others(16): Show GGGAGTGGGAAGGATCCTGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0051 a0001c0005t0002g0051	1	368	0.0027	23	c.30 others(34): Show c.3058_*3059insGGAGTGGGAAGGATCCTGGGAGA	TEX22	ENSG00000226174.7	transcript	ENST00000451127.3	protein_coding		1033		chr14	TogoVar
TEX37_chr2_88519649_88534585	88522034	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	402	0.0025	23	c.-27 others(34): Show c.-2759_-2758insAAAAAAAAAAAAAAAAAAAACAG	TEX37	ENSG00000172073.4	transcript	ENST00000303254.4	protein_coding		2614		chr2	TogoVar
TEX49_chr12_48722435_48770790	48724027	C C	CTCTCCCT others(16): Show CTCTCCCTCTCCCTCTCCCCACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	322	0.0031	23	c.-34 others(34): Show c.-3454_-3453insTCTCCCTCTCCCTCTCCCCACGG	TEX49	ENSG00000257987.6	transcript	ENST00000548380.6	protein_coding		3407		chr12	TogoVar
TFAP2D_chr6_50708526_50778033	50757783	C C	CTATATAT others(16): Show CTATATATATAGAATATATATAAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	334	0.0030	23	c.113 others(42): Show c.1139+6493_1139+6515dupGAATATATATAATTATATATATA	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50757815	T T	TAGAATAT others(16): Show TAGAATATATATAATTATATATAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02486.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0106 a0001c0001t0003g0010 a0001c0001t0003g0106	2	334	0.0060	23	c.113 others(42): Show c.1139+6513_1139+6514insGAGAATATATATAATTATATATA	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50766654	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18994.hp2 HG01192.hp1 NA18994.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0279 a0003c0004t0002g0264 a0001c0001t0002g0279 a0003c0004t0002g0264	2	334	0.0060	23	c.114 others(42): Show c.1140-5988_1140-5966dupTTTTTTTTTTTTTTTTTTTTTTT	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2E_chr1_35568314_35600328	35597826	G G	GTTTTGTT others(16): Show GTTTTGTTACCTATATTCCAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	370	0.0027	23	c.31 others(34): Show c.3150_*3151insTTTTGTTACCTATATTCCAGGCA	TFAP2E	ENSG00000116819.9	transcript	ENST00000373235.4	protein_coding		2499		chr1	TogoVar
TFCP2L1_chr2_121211587_121290202	121269918	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	378	0.0027	23	c.214 others(42): Show c.214+11201_214+11202insATATTTTTTTTTTTTTTTTTTTT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121287677	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00642.hp2 others(73): Show HG00408.hp2 HG00544.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01081.hp1 HG01258.hp2 HG01496.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02258.hp2 HG02523.hp2 HG02735.hp1 HG02735.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18992.hp1 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(21): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0024 a0001c0001t0038 a0001c0001t0058 a0001c0002t0003 a0001c0002t0017 a0001c0002t0022 a0001c0002t0036 a0001c0002t0040 a0001c0002t0043 a0001c0003t0006 a0001c0003t0011 a0001c0003t0014 a0001c0003t0018 a0001c0003t0025 a0001c0003t0049 a0001c0003t0051 a0001c0003t0052 a0001c0003t0055 a0001c0010t0001 a0002c0006t0007 a0003c0005t0003	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 others(73): Show a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0206 a0001c0001t0007g0072 a0001c0001t0007g0121 a0001c0001t0007g0183 a0001c0001t0007g0193 a0001c0001t0013g0077 a0001c0001t0013g0078 a0001c0001t0024g0118 a0001c0001t0038g0117 a0001c0001t0058g0221 a0001c0002t0003g0060 a0001c0002t0003g0088 a0001c0002t0003g0094 a0001c0002t0003g0116 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0122 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0142 a0001c0002t0003g0151 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0178 a0001c0002t0003g0186 a0001c0002t0003g0189 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0216 a0001c0002t0003g0218 a0001c0002t0017g0212 a0001c0002t0022g0146 a0001c0002t0036g0104 a0001c0002t0040g0196 a0001c0002t0043g0166 a0001c0003t0006g0067 a0001c0003t0006g0079 a0001c0003t0006g0095 a0001c0003t0006g0096 a0001c0003t0006g0102 a0001c0003t0006g0108 a0001c0003t0006g0155 a0001c0003t0006g0164 a0001c0003t0006g0175 a0001c0003t0006g0194 a0001c0003t0011g0135 a0001c0003t0011g0167 a0001c0003t0011g0187 a0001c0003t0014g0115 a0001c0003t0018g0058 a0001c0003t0018g0100 a0001c0003t0018g0191 a0001c0003t0025g0106 a0001c0003t0049g0184 a0001c0003t0051g0173 a0001c0003t0052g0114 a0001c0003t0055g0176 a0001c0010t0001g0126 a0002c0006t0007g0062 a0003c0005t0003g0210	76	378	0.2011	23	c.-25 others(34): Show c.-2569_-2568insAAAAAAAAAAAAAAAAAAAAAAA	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding		2476		chr2	TogoVar
TFCP2_chr12_51088656_51178135	51132357	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0307 a0001c0001t0044g0307	1	348	0.0029	23	c.123 others(42): Show c.123-13608_123-13586dupAAAAAAAAAAAAAAAAAAAAAAA	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding	1/14			chr12	TogoVar
TFCP2_chr12_51088656_51178135	51173870	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	348	0.0029	23	c.-14 others(34): Show c.-1449_-1448insTTTTTTTTTTTTTTTTTTTTTTT	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding		736		chr12	TogoVar
TFEC_chr7_115930152_116035763	115944013	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01516.hp1 others(12): Show HG00408.hp2 HG01106.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02165.hp1 HG02559.hp2 HG03834.hp1 NA18957.hp2 NA18959.hp2 NA18979.hp1 NA19030.hp1 NA19063.hp1 NA19064.hp1 NA19072.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0018 a0004c0007t0001	a0001c0001t0001g0363 a0001c0001t0002g0013 a0001c0001t0002g0052 others(11): Show a0001c0001t0001g0363 a0001c0001t0002g0013 a0001c0001t0002g0052 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0017g0223 a0001c0001t0018g0136 a0004c0007t0001g0031	15	394	0.0381	23	c.516 others(40): Show c.516-1996_516-1974dupAAAAAAAAAAAAAAAAAAAAAAA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
TFEC_chr7_115930152_116035763	115974450	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	394	0.0025	23	c.181 others(38): Show c.181-195_181-194insATATATATATATATATATATATA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	2/7			chr7	TogoVar
TFF3_chr21_42306667_42320409	42317300	A A	ATCCCTGG others(16): Show ATCCCTGGGGGATCTGGTGAGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00558.hp2 others(61): Show HG00140.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00735.hp2 HG01081.hp1 HG01109.hp1 HG01261.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG04204.hp2 NA18612.hp2 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19058.hp1 NA19063.hp1 NA19074.hp1 NA19077.hp1 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0021	64	452	0.1416	23	c.-19 others(34): Show c.-1927_-1926insGATCTCACCAGATCCCCCAGGGA	TFF3	ENSG00000160180.17	transcript	ENST00000518498.3	protein_coding		1892		chr21	TogoVar
TFR2_chr7_100615420_100646552	100641543	C C	CCCCAGCG others(16): Show CCCCAGCGATAAACCGATAAACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0002 a0011c0017t0002	a0011c0017t0002g0032 a0011c0017t0002g0032	1	336	0.0030	23	c.-57 others(30): Show c.-57_-35dupCGGTTTATCGGTTTATCGCTGGG	TFR2	ENSG00000106327.13	transcript	ENST00000223051.8	protein_coding	1/18	35		chr7	TogoVar
TGFA_chr2_70442284_70558826	70451090	T T	TGAGTGAG others(16): Show TGAGTGAGTGAGTGATAGCAGAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03225.hp1 others(5): Show HG02895.hp2 HG02897.hp2 HG03225.hp1 NA18969.hp2 NA18973.hp2 NA18993.hp1 NA19002.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0017 a0003c0004t0010 a0001c0001t0017 a0003c0004t0010	a0001c0001t0017g0004 a0001c0001t0017g0078 a0003c0004t0010g0178 others(4): Show a0001c0001t0017g0004 a0001c0001t0017g0078 a0003c0004t0010g0178 a0003c0004t0010g0205 a0003c0004t0010g0252 a0003c0004t0010g0253 a0003c0004t0010g0255	8	344	0.0233	23	c.476 others(38): Show c.476-247_476-225dupCTTCTGCTATCACTCACTCACTC	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	5/5			chr2	TogoVar
TGFBI_chr5_136023988_136068818	136060826	T T	TCCCCCCC others(16): Show TCCCCCCCCCCCCCCCCCCCCCCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0098 a0005c0016t0002g0098	1	404	0.0025	23	c.180 others(36): Show c.1804-7_1804-6insCCCCCCCCCCCCCCCCCCCCCCC	TGFBI	ENSG00000120708.17	transcript	ENST00000442011.7	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
TGM2_chr20_38122385_38170270	38124112	C C	CATATATT others(16): Show CATATATTATATATAATACACATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG03490.hp1 HG01346.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0069 a0001c0001t0001g0071	2	360	0.0056	23	c.60 others(34): Show c.6084_*6106dupAATGTGTATTATATATAATATAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3272		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124155	C C	CATATATT others(16): Show CATATATTATATATAATACACATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA21309.hp1 HG02145.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0011 a0001c0001t0011 a0001c0002t0011	a0001c0001t0011g0125 a0001c0002t0011g0123 a0001c0001t0011g0125 a0001c0002t0011g0123	2	360	0.0056	23	c.60 others(34): Show c.6041_*6063dupAATGTGTATTATATATAATATAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3229		chr20	TogoVar
TGM5_chr15_43227590_43271928	43271783	G G	GAATGATT others(16): Show GAATGATTTATATTCCTCTGGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	334	0.0030	23	c.-49 others(34): Show c.-4935_-4934insTACCCAGAGGAATATAAATCATT	TGM5	ENSG00000104055.17	transcript	ENST00000220420.10	protein_coding		4856		chr15	TogoVar
TG_chr8_132861958_133139899	133093141	T T	TTTCTTTT others(16): Show TTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp2 HG02976.hp2 others(3): Show HG02055.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03471.hp2 NA19240.hp1	a0001 a0021 a0023 others(3): Show a0001 a0021 a0023 a0024 a0126 a0128	a0001c0113 a0021c0019 a0023c0061 others(3): Show a0001c0113 a0021c0019 a0023c0061 a0024c0017 a0126c0097 a0128c0033	a0001c0113t0001 a0021c0019t0001 a0023c0061t0001 others(3): Show a0001c0113t0001 a0021c0019t0001 a0023c0061t0001 a0024c0017t0001 a0126c0097t0001 a0128c0033t0001	a0001c0113t0001g0048 a0021c0019t0001g0133 a0023c0061t0001g0139 others(3): Show a0001c0113t0001g0048 a0021c0019t0001g0133 a0023c0061t0001g0139 a0024c0017t0001g0129 a0126c0097t0001g0043 a0128c0033t0001g0192	6	216	0.0278	23	c.724 others(42): Show c.7240-1901_7240-1900insCTTTTCTTTTCTTTTCTTTTCTT	TG	ENSG00000042832.12	transcript	ENST00000220616.9	protein_coding	41/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
THADA_chr2_43225851_43601038	43291454	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0142 a0003c0003t0001g0142	1	206	0.0049	23	c.501 others(40): Show c.5010+219_5010+241dupTTTTTTTTTTTTTTTTTTTTTTT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	34/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43399715	C C	CAACTCAT others(16): Show CAACTCATCCTGGACAGTTCCCAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0127 a0003c0003t0001g0127	1	206	0.0049	23	c.405 others(42): Show c.4059-1599_4059-1577dupTTGGGAACTGTCCAGGATGAGTT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	28/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43489874	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20129.hp2 HG03471.hp1 NA20129.hp2	a0011 a0025 a0011 a0025	a0011c0017 a0025c0038 a0011c0017 a0025c0038	a0011c0017t0001 a0025c0038t0001 a0011c0017t0001 a0025c0038t0001	a0011c0017t0001g0063 a0025c0038t0001g0064 a0011c0017t0001g0063 a0025c0038t0001g0064	2	206	0.0097	23	c.374 others(42): Show c.3745-4550_3745-4549insTTTTTTTTTTTTTTTTTTTTTTT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	25/37			chr2	TogoVar
THBS4_chr5_80030348_80088287	80080579	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02559.hp1 NA18952.hp1 HG00597.hp1 HG02559.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0002c0007t0002 a0001c0001t0001 a0001c0002t0001 a0002c0007t0002	a0001c0001t0001g0056 a0001c0002t0001g0266 a0002c0007t0002g0163 a0001c0001t0001g0056 a0001c0002t0001g0266 a0002c0007t0002g0163	3	394	0.0076	23	c.268 others(40): Show c.2684+505_2684+527dupTTTTTTTTTTTTTTTTTTTTTTT	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
THBS4_chr5_80030348_80088287	80088261	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00621.hp1 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0153 a0001c0001t0001g0069 a0001c0001t0001g0153	2	394	0.0051	23	c.51 others(34): Show c.5120_*5121insATATATATATATATATATATATA	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding		4975		chr5	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCCTGT others(16): Show CCCCCTGTGCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 NA18965.hp1 HG00408.hp2 HG00423.hp2 NA18965.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0010 a0001c0001 a0003c0004 a0007c0010	a0001c0001t0003 a0003c0004t0004 a0007c0010t0003 a0001c0001t0003 a0003c0004t0004 a0007c0010t0003	a0001c0001t0003g0333 a0003c0004t0004g0262 a0007c0010t0003g0185 a0001c0001t0003g0333 a0003c0004t0004g0262 a0007c0010t0003g0185	3	370	0.0081	23	c.-13 others(34): Show c.-1314_-1313insAGAGGCTGGGTGGGGCACAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCGTGT others(16): Show CCCCGTGTGCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0339 a0001c0009t0001g0339	1	370	0.0027	23	c.-13 others(34): Show c.-1314_-1313insAGAGGCTGGGTGGGGCACACGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar

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