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
THADA_chr2_43225851_43601038	43248158	TATATATA others(21): Show TATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 NA18522.hp1 HG02055.hp2 HG02572.hp1 NA18522.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0015 a0008c0012t0001g0016 a0008c0012t0001g0018 a0008c0012t0001g0015 a0008c0012t0001g0016 a0008c0012t0001g0018	3	206	0.0146	-28	c.529 others(49): Show c.5297-15304_5297-15277delCTCTCTCTCTCTCTCTCTCTCTAT ATAT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	36/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43431641	ACTTTTTT others(21): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01258.hp2 HG01261.hp1 HG00140.hp2 HG01258.hp2 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0189 a0002c0002t0001g0201 a0002c0002t0001g0173 a0002c0002t0001g0189 a0002c0002t0001g0201	3	206	0.0146	-28	c.383 others(47): Show c.3837-1367_3837-1340delAAAAAAAAAAAAAAAAAAAAAAAAAA AG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	26/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43515179	TATATATA others(21): Show TATATATAATATATTATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG04184.hp1 HG01952.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0095 a0001c0001t0001g0103	2	206	0.0097	-28	c.337 others(47): Show c.3375-6427_3375-6400delTATATATTATATATAATATATTATAT AT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THAP2_chr12_71659301_71685644	71681667	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAACTTGTTTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0010 a0001c0006t0004g0010	1	374	0.0027	-28	c.45 others(39): Show c.4560_*4587delAAAAAAAAAAAAAAAAAAACTTGTTTCG	THAP2	ENSG00000173451.7	transcript	ENST00000308086.3	protein_coding		1024		chr12	TogoVar
THEG_chr19_356747_381026	372433	CAAGCAGC others(21): Show CAAGCAGCCTGCTGGGGATGTGGACTGGG	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0205 a0005c0005t0004g0205	1	370	0.0027	-28	c.635 others(43): Show c.635+170_635+197delCCCAGTCCACATCCCCAGCAGGCTGCTT	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	5/7			chr19	TogoVar
THEG_chr19_356747_381026	377255	TCCCCCTC others(21): Show TCCCCCTCTGTGCCCCACCCAGCCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03139.hp1 HG03209.hp2 HG02886.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0012 a0001c0001t0012g0284 a0001c0001t0004g0012 a0001c0001t0012g0284	3	370	0.0081	-28	c.-13 others(39): Show c.-1313_-1286delGGAGAGGCTGGGTGGGGCACAGAGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1230		chr19	TogoVar
THEM6_chr8_142722223_142741927	142732180	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19009.hp2 NA18941.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0228 a0001c0001t0002g0152 a0001c0001t0002g0228	2	414	0.0048	-28	c.514 others(45): Show c.514-3144_514-3117delATATATATATATATATATATATATATTT	THEM6	ENSG00000130193.8	transcript	ENST00000336138.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
THEMIS_chr6_127703200_127906058	127729140	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG03453.hp1 others(1): Show HG02280.hp2 HG02723.hp1 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0002t0001g0134 a0001c0002t0003g0139 a0001c0002t0004g0130 others(1): Show a0001c0002t0001g0134 a0001c0002t0003g0139 a0001c0002t0004g0130 a0001c0002t0004g0188	4	223	0.0179	-28	c.175 others(47): Show c.1759-9345_1759-9318delGAGAGAGAGAGAGAGAGAGAGAGAGA GA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127787822	GATAGATA others(21): Show GATAGATAGATAGATAGAGATAGACAGAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG01346.hp1 others(8): Show HG00280.hp1 HG00408.hp1 HG01346.hp1 HG03239.hp2 NA18612.hp1 NA18956.hp1 NA18993.hp2 NA19009.hp2 NA19030.hp1 NA19084.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0053 others(8): Show a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0060 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0133 a0002c0001t0001g0154	11	223	0.0493	-28	c.175 others(49): Show c.1758+25033_1758+25060delATCTGTCTATCTCTATCTATCTAT CTAT	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127797727	ATCTGTAA others(21): Show ATCTGTAAAACAATCTTCTCTCTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	223	0.0045	-28	c.175 others(49): Show c.1758+15128_1758+15155delAAATAAAGAGAGAAGATTGTTTTA CAGA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THOC3_chr5_175954531_175973315	175967533	TACCACCA others(21): Show TACCACCAACGTACCACCACCAACGTACC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18946.hp2 NA18950.hp1 others(6): Show HG02135.hp1 NA18946.hp2 NA18950.hp1 NA18989.hp2 NA18993.hp1 NA19000.hp2 NA19011.hp2 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0029 a0001c0001t0003g0005 a0001c0001t0003g0042 others(1): Show a0001c0001t0001g0029 a0001c0001t0003g0005 a0001c0001t0003g0042 a0001c0001t0003g0059	9	259	0.0348	-28	c.268 others(43): Show c.268-294_268-267delGGTACGTTGGTGGTGGTACGTTGGTGGT	THOC3	ENSG00000051596.10	transcript	ENST00000265097.9	protein_coding	1/5			chr5	TogoVar
THOC5_chr22_29500879_29558757	29541869	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp2 HG02895.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0029 a0001c0001t0013g0035 a0001c0001t0013g0029 a0001c0001t0013g0035	2	384	0.0052	-28	c.452 others(43): Show c.452+962_452+989delATATTTTTTTTTTTTTTTTTTTTTTTTT	THOC5	ENSG00000100296.14	transcript	ENST00000490103.6	protein_coding	5/19			chr22	TogoVar
THOC5_chr22_29500879_29558757	29541871	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0030 a0001c0001t0013g0030	1	384	0.0026	-28	c.452 others(43): Show c.452+960_452+987delATATATTTTTTTTTTTTTTTTTTTTTTT	THOC5	ENSG00000100296.14	transcript	ENST00000490103.6	protein_coding	5/19			chr22	TogoVar
THOC5_chr22_29500879_29558757	29541873	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA21309.hp2 HG03139.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	384	0.0052	-28	c.452 others(43): Show c.452+958_452+985delATATATATTTTTTTTTTTTTTTTTTTTT	THOC5	ENSG00000100296.14	transcript	ENST00000490103.6	protein_coding	5/19			chr22	TogoVar
THOC5_chr22_29500879_29558757	29541875	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG03041.hp2 others(1): Show HG01884.hp2 HG02809.hp2 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0007g0036	4	384	0.0104	-28	c.452 others(43): Show c.452+956_452+983delATATATATATTTTTTTTTTTTTTTTTTT	THOC5	ENSG00000100296.14	transcript	ENST00000490103.6	protein_coding	5/19			chr22	TogoVar
THOC7_chr3_63828870_63868805	63850410	AGGCTGGT others(21): Show AGGCTGGTCTCAAACTCCTGACCTCAAAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	374	0.0027	-28	c.20- others(45): Show c.20-10665_20-10638delATTTGAGGTCAGGAGTTTGAGACCAGCC	THOC7	ENSG00000163634.12	transcript	ENST00000295899.10	protein_coding	1/7			chr3	TogoVar
THOC7_chr3_63828870_63868805	63867626	AAGGCGGG others(21): Show AAGGCGGGTGGATCATTTGAGGTAGGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG03041.hp1 HG02895.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	374	0.0054	-28	c.-38 others(39): Show c.-3864_-3837delCGGCCTACCTCAAATGATCCACCCGCCT	THOC7	ENSG00000163634.12	transcript	ENST00000295899.10	protein_coding		3822		chr3	TogoVar
THOP1_chr19_2780503_2820807	2805820	AGGGGACG others(21): Show AGGGGACGGGCGGGTGCCCATCACTGCGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp1 others(57): Show HG00099.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp2 HG00733.hp1 HG01081.hp2 HG01109.hp1 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02293.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02896.hp1 HG02922.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03834.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18955.hp2 NA18962.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19068.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0006 a0003c0007 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0005t0001 a0002c0002t0011 a0003c0006t0008 a0003c0007t0022 a0007c0012t0002	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0032 others(41): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0009 a0001c0001t0002g0041 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0200 a0001c0001t0003g0188 a0001c0001t0004g0022 a0001c0001t0004g0055 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0005g0080 a0001c0001t0007g0205 a0001c0001t0009g0133 a0001c0001t0030g0187 a0001c0001t0031g0003 a0001c0001t0032g0057 a0001c0005t0001g0003 a0002c0002t0011g0063 a0003c0006t0008g0061 a0003c0006t0008g0062 a0003c0007t0022g0056 a0007c0012t0002g0009	60	370	0.1622	-28	c.750 others(43): Show c.750+762_750+789delCGGGCGGGTGCCCATCACTGCGGGGGGA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
THOP1_chr19_2780503_2820807	2805938	CGGGCGGG others(21): Show CGGGCGGGTGCCCATCACTGCGGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18954.hp2 HG03195.hp2 NA18954.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0016 a0001c0001 a0006c0016	a0001c0001t0003 a0006c0016t0034 a0001c0001t0003 a0006c0016t0034	a0001c0001t0003g0092 a0006c0016t0034g0075 a0001c0001t0003g0092 a0006c0016t0034g0075	2	370	0.0054	-28	c.750 others(43): Show c.750+789_750+816delATGGGCGGGTGCCCATCACTGCGGGGGG	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
THOP1_chr19_2780503_2820807	2817707	TCAGAGCA others(21): Show TCAGAGCAGGTGACAAGGGTGACTAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0034 a0006c0016t0034	a0006c0016t0034g0075 a0006c0016t0034g0075	1	370	0.0027	-28	c.44 others(39): Show c.4432_*4459delCAGAGCAGGTGACAAGGGTGACTAAGAA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		1901		chr19	TogoVar
THOP1_chr19_2780503_2820807	2817764	TCAGAGCA others(21): Show TCAGAGCAGGTGACAAGGGTGACTAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02015.hp1 HG02132.hp2 others(24): Show HG01109.hp2 HG02015.hp1 HG02132.hp2 HG02572.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp1 NA18941.hp1 NA18948.hp1 NA18949.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18984.hp1 NA18988.hp2 NA18999.hp1 NA19004.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0021	a0001c0001t0001g0176 a0001c0001t0002g0004 a0001c0001t0002g0012 others(14): Show a0001c0001t0001g0176 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0158 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0005g0006 a0001c0001t0007g0004 a0001c0001t0019g0180 a0001c0001t0021g0040	27	370	0.0730	-28	c.44 others(39): Show c.4489_*4516delCAGAGCAGGTGACAAGGGTGACTAAGAA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		1958		chr19	TogoVar
THOP1_chr19_2780503_2820807	2817879	TCAGAGCA others(21): Show TCAGAGCAGGTGACAAGGGTGACTAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG03130.hp1 others(1): Show HG02257.hp1 HG02818.hp1 HG03130.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0003 a0001c0001t0010g0071 a0001c0001t0010g0072 others(1): Show a0001c0001t0001g0003 a0001c0001t0010g0071 a0001c0001t0010g0072 a0001c0001t0010g0073	4	370	0.0108	-28	c.46 others(39): Show c.4604_*4631delCAGAGCAGGTGACAAGGGTGACTAAGAA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2073		chr19	TogoVar
THOP1_chr19_2780503_2820807	2818051	TCAGAGCA others(21): Show TCAGAGCAGGTGACAAGGGTGACTAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	370	0.0027	-28	c.47 others(39): Show c.4776_*4803delCAGAGCAGGTGACAAGGGTGACTAAGAA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2245		chr19	TogoVar
THOP1_chr19_2780503_2820807	2818521	CCAAGGAT others(21): Show CCAAGGATGACTAAGGTCAGAGCAGGTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02559.hp2 others(3): Show HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0023 a0001c0001t0003g0067 a0001c0001t0003g0068 others(2): Show a0001c0001t0003g0023 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0027g0070	6	370	0.0162	-28	c.52 others(39): Show c.5246_*5273delCAAGGATGACTAAGGTCAGAGCAGGTGA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2715		chr19	TogoVar
THRB_chr3_24112153_24499850	24233560	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG02895.hp2 others(1): Show HG00639.hp1 HG02109.hp2 HG02895.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0035 a0001c0002t0015 others(1): Show a0001c0001t0006 a0001c0001t0035 a0001c0002t0015 a0001c0002t0057	a0001c0001t0006g0057 a0001c0001t0035g0154 a0001c0002t0015g0151 others(1): Show a0001c0001t0006g0057 a0001c0001t0035g0154 a0001c0002t0015g0151 a0001c0002t0057g0177	4	178	0.0225	-28	c.-42 others(45): Show c.-42-4587_-42-4560delTCTTTCTTTCTTTCTTTCTTTCTTTCTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24375368	TTTAGACA others(21): Show TTTAGACATATAATATTAATATATTATAG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01934.hp1 others(9): Show HG01070.hp1 HG01071.hp1 HG01934.hp1 HG02027.hp2 HG02055.hp1 HG02257.hp2 HG02622.hp2 HG02965.hp1 HG03098.hp1 HG03225.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(8): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0026 a0001c0001t0028 a0001c0001t0037 a0001c0001t0041 a0001c0002t0003	a0001c0001t0004g0087 a0001c0001t0005g0146 a0001c0001t0005g0149 others(9): Show a0001c0001t0004g0087 a0001c0001t0005g0146 a0001c0001t0005g0149 a0001c0001t0007g0169 a0001c0001t0009g0044 a0001c0001t0010g0068 a0001c0001t0014g0093 a0001c0001t0026g0017 a0001c0001t0028g0020 a0001c0001t0037g0089 a0001c0001t0041g0026 a0001c0002t0003g0027	12	178	0.0674	-28	c.-26 others(49): Show c.-260-38025_-260-37998delCTATAATATATTAATATTATATGT CTAA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	1/10			chr3	TogoVar
THSD4_chr15_71110471_71788383	71349454	CCTATCAA others(21): Show CCTATCAACATGTCTTGAAGGTGTGGCCA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02965.hp2 HG03098.hp2 others(2): Show HG02896.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0020 a0001c0001t0021 a0001c0001t0034 others(2): Show a0001c0001t0020 a0001c0001t0021 a0001c0001t0034 a0001c0003t0003 a0001c0004t0005	a0001c0001t0020g0036 a0001c0001t0021g0005 a0001c0001t0034g0006 others(2): Show a0001c0001t0020g0036 a0001c0001t0021g0005 a0001c0001t0034g0006 a0001c0003t0003g0108 a0001c0004t0005g0100	5	116	0.0431	-28	c.101 others(49): Show c.1016-62230_1016-62203delATCAACATGTCTTGAAGGTGTGGC CACT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71682855	ACTTTCTT others(21): Show ACTTTCTTTCTTTCTTTCTTTCTTTCTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03516.hp1 NA20905.hp2 HG02622.hp1 HG03516.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0003 a0002c0005t0004 a0001c0001t0001 a0001c0002t0003 a0002c0005t0004	a0001c0001t0001g0041 a0001c0002t0003g0111 a0002c0005t0004g0113 a0001c0001t0001g0041 a0001c0002t0003g0111 a0002c0005t0004g0113	3	116	0.0259	-28	c.135 others(49): Show c.1357+22149_1357+22176delTCTTTCTTTCTTTCTTTCTTTCTT TCTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71727547	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0089 a0001c0001t0036g0089	1	116	0.0086	-28	c.135 others(46): Show c.1358-1000_1358-973delAAAAAATATATATATATATATATATAT A	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7B_chr2_136760545_137682718	136802639	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp2 HG03139.hp1 others(1): Show HG02109.hp1 HG03041.hp2 HG03139.hp1 NA19240.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0015	a0001c0004 a0002c0003 a0005c0045 others(1): Show a0001c0004 a0002c0003 a0005c0045 a0015c0047	a0001c0004t0001 a0002c0003t0001 a0005c0045t0012 others(1): Show a0001c0004t0001 a0002c0003t0001 a0005c0045t0012 a0015c0047t0002	a0001c0004t0001g0058 a0002c0003t0001g0056 a0005c0045t0012g0057 others(1): Show a0001c0004t0001g0058 a0002c0003t0001g0056 a0005c0045t0012g0057 a0015c0047t0002g0032	4	98	0.0408	-28	c.-36 others(47): Show c.-36+36968_-36+36995delATATATATATATATATATATATATAT AT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137200855	AGATGGGG others(21): Show AGATGGGGACTCCTATGTTGCCCAGACTG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01167.hp2 others(50): Show HG00609.hp1 HG00735.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01515.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04199.hp1 NA18747.hp1 NA18906.hp1 NA18961.hp2 NA18990.hp1 NA18993.hp1 NA19000.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19084.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0015 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0004 a0001c0005 others(32): Show a0001c0001 a0001c0004 a0001c0005 a0001c0017 a0001c0019 a0001c0031 a0001c0036 a0001c0056 a0002c0003 a0002c0016 a0002c0028 a0003c0002 a0003c0014 a0003c0018 a0003c0025 a0003c0040 a0004c0007 a0004c0051 a0005c0009 a0005c0033 a0005c0045 a0005c0054 a0005c0057 a0006c0011 a0006c0023 a0006c0032 a0006c0046 a0006c0048 a0015c0047 a0016c0026 a0017c0027 a0018c0041 a0019c0037 a0020c0038 a0021c0039	a0001c0001t0001 a0001c0001t0008 a0001c0004t0003 others(44): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0003 a0001c0005t0001 a0001c0005t0003 a0001c0017t0001 a0001c0019t0016 a0001c0031t0004 a0001c0036t0002 a0001c0056t0003 a0002c0003t0001 a0002c0003t0009 a0002c0003t0017 a0002c0016t0001 a0002c0028t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0006 a0003c0002t0009 a0003c0002t0015 a0003c0014t0002 a0003c0014t0018 a0003c0018t0001 a0003c0025t0001 a0003c0040t0011 a0004c0007t0001 a0004c0007t0008 a0004c0051t0001 a0005c0009t0001 a0005c0009t0007 a0005c0033t0004 a0005c0045t0012 a0005c0054t0002 a0005c0057t0013 a0006c0011t0003 a0006c0011t0005 a0006c0023t0002 a0006c0032t0004 a0006c0046t0004 a0006c0048t0005 a0015c0047t0002 a0016c0026t0005 a0017c0027t0001 a0018c0041t0007 a0019c0037t0005 a0020c0038t0007 a0021c0039t0002	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0008g0012 others(50): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0008g0012 a0001c0004t0003g0091 a0001c0005t0001g0022 a0001c0005t0003g0077 a0001c0017t0001g0045 a0001c0019t0016g0090 a0001c0031t0004g0060 a0001c0036t0002g0051 a0001c0056t0003g0086 a0002c0003t0001g0056 a0002c0003t0001g0070 a0002c0003t0009g0073 a0002c0003t0017g0082 a0002c0016t0001g0028 a0002c0028t0001g0055 a0003c0002t0001g0002 a0003c0002t0001g0003 a0003c0002t0001g0005 a0003c0002t0001g0047 a0003c0002t0002g0061 a0003c0002t0006g0066 a0003c0002t0009g0089 a0003c0002t0015g0038 a0003c0014t0002g0001 a0003c0014t0018g0094 a0003c0018t0001g0046 a0003c0025t0001g0006 a0003c0040t0011g0080 a0004c0007t0001g0044 a0004c0007t0008g0048 a0004c0007t0008g0049 a0004c0051t0001g0069 a0005c0009t0001g0009 a0005c0009t0007g0008 a0005c0033t0004g0016 a0005c0045t0012g0057 a0005c0054t0002g0031 a0005c0057t0013g0013 a0006c0011t0003g0092 a0006c0011t0005g0095 a0006c0023t0002g0014 a0006c0032t0004g0036 a0006c0046t0004g0017 a0006c0048t0005g0093 a0015c0047t0002g0032 a0016c0026t0005g0085 a0017c0027t0001g0065 a0018c0041t0007g0007 a0019c0037t0005g0083 a0020c0038t0007g0010 a0021c0039t0002g0004	53	98	0.5408	-28	c.172 others(49): Show c.1723+29919_1723+29946delATGGGGACTCCTATGTTGCCCAGA CTGG	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TH_chr11_2158929_2176815	2161719	ACACCCCT others(21): Show ACACCCCTGTCCCCCGGACCCCTGTCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18950.hp2 NA18998.hp1 others(3): Show NA18941.hp1 NA18950.hp2 NA18998.hp1 NA19010.hp1 NA19011.hp2 NA19060.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0065 a0002c0001t0001g0002 a0002c0001t0001g0065	6	388	0.0155	-28	c.24 others(39): Show c.2486_*2513delGGGGACAGGGGTCCGGGGGACAGGGGTG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2209		chr11	TogoVar
TIAM1_chr21_31113418_31349261	31181756	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0138 a0001c0002t0012g0130 a0001c0002t0001g0138 a0001c0002t0012g0130	2	212	0.0094	-28	c.288 others(45): Show c.2887+637_2887+664delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	15/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31210651	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0085 a0001c0002t0007g0085	1	212	0.0047	-28	c.221 others(45): Show c.2218-464_2218-437delCTTTCTTTCTTTTTCTTTCTTTCTTTCT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31210657	GAAAGAAA others(21): Show GAAAGAAAGAAAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	212	0.0047	-28	c.221 others(45): Show c.2218-470_2218-443delTTCTTTCTTTCTTTCTTTTTCTTTCTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31210677	AAGAAAGA others(21): Show AAGAAAGAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG02486.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0004 a0001c0001t0014 a0001c0002t0004	a0001c0001t0014g0046 a0001c0002t0004g0098 a0001c0001t0014g0046 a0001c0002t0004g0098	2	212	0.0094	-28	c.221 others(45): Show c.2218-490_2218-463delCTTTCTTTCTTTCTTTCTTTTTCTTTCT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155027839	ATATATAA others(21): Show ATATATAATATATGTACTGTGTTATATAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp2 HG01258.hp2 others(15): Show HG01099.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG02083.hp2 HG02273.hp1 HG02486.hp1 HG03688.hp1 HG03704.hp2 NA18747.hp2 NA18947.hp2 NA18955.hp2 NA18969.hp2 NA19066.hp2 NA19074.hp2 NA19081.hp1 NA19082.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0017	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0023 a0006c0010 a0007c0013 a0017c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0007t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0037 a0002c0023t0011 a0006c0010t0002 a0007c0013t0001 a0017c0026t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0143 others(15): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0143 a0001c0002t0001g0017 a0001c0002t0001g0152 a0001c0002t0004g0096 a0001c0007t0001g0090 a0001c0007t0001g0167 a0002c0003t0001g0124 a0002c0003t0003g0007 a0002c0003t0003g0158 a0002c0003t0004g0088 a0002c0003t0037g0008 a0002c0023t0011g0025 a0006c0010t0002g0031 a0006c0010t0002g0122 a0007c0013t0001g0010 a0017c0026t0001g0060	18	230	0.0783	-28	c.-20 others(49): Show c.-209+32371_-209+32398delTATACTATATAATATATGTACTGT GTTA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155172668	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0142 a0002c0003t0003g0142	1	230	0.0044	-28	c.236 others(47): Show c.2362-4146_2362-4119delATATATATATATATATATTTTTTTTT TT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155185490	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG03041.hp1 others(1): Show HG02109.hp2 HG02895.hp2 HG03041.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0005 a0001c0004t0002 a0001c0002t0001 a0001c0002t0005 a0001c0004t0002	a0001c0002t0001g0112 a0001c0002t0005g0223 a0001c0002t0005g0230 others(1): Show a0001c0002t0001g0112 a0001c0002t0005g0223 a0001c0002t0005g0230 a0001c0004t0002g0029	4	230	0.0174	-28	c.306 others(47): Show c.3064+2013_3064+2040delTATTTATTTATTTATTTATTTATTTA TT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TICAM2_chr5_115573496_115607479	115575083	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02818.hp2 HG03579.hp2 others(3): Show HG02723.hp1 HG02818.hp2 HG03579.hp2 NA19060.hp1 NA19083.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012	a0001c0001t0002g0001 a0001c0001t0002g0085 a0001c0001t0010g0108 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0085 a0001c0001t0010g0108 a0001c0001t0012g0106 a0001c0001t0012g0109	6	402	0.0149	-28	c.54 others(39): Show c.5438_*5465delATATATATATATATATATATATATATAT	TICAM2	ENSG00000243414.6	transcript	ENST00000427199.3	protein_coding		3412		chr5	TogoVar
TIGAR_chr12_4316213_4365028	4318369	GACACACA others(21): Show GACACACACACACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0115 a0001c0001t0033g0115	1	420	0.0024	-28	c.-29 others(39): Show c.-2902_-2875delACACACACACACACACACACACACACAC	TIGAR	ENSG00000078237.7	transcript	ENST00000179259.6	protein_coding		2843		chr12	TogoVar
TIGD2_chr4_89106533_89119901	89108551	CACAGAGA others(21): Show CACAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 NA19030.hp1 NA19240.hp2 others(1): Show HG01884.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	4	430	0.0093	-28	c.-42 others(39): Show c.-4240_-4213delACAGAGAGAGAGAGAGAGAGAGAGAGAG	TIGD2	ENSG00000180346.5	transcript	ENST00000603357.3	protein_coding		2981		chr4	TogoVar
TIMP2_chr17_78847977_78930387	78893116	CACATGTG others(21): Show CACATGTGTGTGCAGGGGTGTGTGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03130.hp2 HG02738.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0011 a0001c0001t0019	a0001c0001t0011g0195 a0001c0001t0019g0092 a0001c0001t0011g0195 a0001c0001t0019g0092	2	316	0.0063	-28	c.131 others(47): Show c.131-19225_131-19198delACGCACACACACCCCTGCACACACAT GT	TIMP2	ENSG00000035862.13	transcript	ENST00000262768.11	protein_coding	1/4			chr17	TogoVar
TIMP3_chr22_32796705_32868041	32840994	CGAGAATT others(21): Show CGAGAATTGCTGTTACCCCCTTTTGATTG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0140 a0001c0003t0002g0140	1	368	0.0027	-28	c.122 others(45): Show c.122-8457_122-8430delGAGAATTGCTGTTACCCCCTTTTGATTG	TIMP3	ENSG00000100234.12	transcript	ENST00000266085.7	protein_coding	1/4			chr22	TogoVar
TINAGL1_chr1_31571515_31592686	31580185	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02559.hp2 HG03017.hp2 others(3): Show HG00621.hp2 HG02559.hp2 HG03017.hp2 HG03834.hp2 NA18960.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0001g0098 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0154 a0001c0001t0001g0233 a0001c0001t0002g0034	6	440	0.0136	-28	c.374 others(43): Show c.374+932_374+959delCTCTCTCTCTCTCTGTCTCTCTCTCTCT	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TINAG_chr6_54303441_54395142	54372727	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	374	0.0027	-28	c.125 others(47): Show c.1251-7781_1251-7754delTATATATATATATATATATATATATA TA	TINAG	ENSG00000137251.16	transcript	ENST00000259782.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TLE5_chr19_3047910_3067495	3051701	ATTATATA others(21): Show ATTATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03130.hp2 others(1): Show HG02895.hp1 HG02897.hp2 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0050	4	410	0.0098	-28	c.20 others(39): Show c.2090_*2117delATATATATATATATATATATATATATAA	TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding		1208		chr19	TogoVar
TLE5_chr19_3047910_3067495	3051702	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02451.hp1 NA18990.hp1 HG00609.hp2 HG02451.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0051 a0001c0001t0002g0199 a0001c0001t0002g0006 a0001c0001t0002g0051 a0001c0001t0002g0199	3	410	0.0073	-28	c.20 others(39): Show c.2089_*2116delTATATATATATATATATATATATATATA	TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding		1207		chr19	TogoVar
TLK1_chr2_170985823_171165893	171015684	TTCATACA others(21): Show TTCATACACACACACATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG00673.hp2 others(13): Show HG00140.hp2 HG00597.hp2 HG00673.hp2 HG01168.hp2 HG01258.hp2 HG01993.hp1 HG03490.hp1 NA18940.hp1 NA18942.hp1 NA18975.hp1 NA18984.hp2 NA19005.hp2 NA19058.hp1 NA19062.hp1 NA19070.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0023 a0001c0002t0011	a0001c0001t0001g0077 a0001c0001t0001g0125 a0001c0001t0001g0127 others(13): Show a0001c0001t0001g0077 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0007g0176 a0001c0001t0007g0200 a0001c0001t0014g0008 a0001c0001t0023g0177 a0001c0001t0023g0194 a0001c0002t0011g0133	16	266	0.0602	-28	c.123 others(45): Show c.1237-764_1237-737delGTGTGTGTGTATATGTGTGTGTGTATGA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	12/20			chr2	TogoVar
TLK1_chr2_170985823_171165893	171143506	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG03098.hp2 others(2): Show HG00738.hp2 HG01109.hp2 HG03098.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0047 a0001c0003t0003 a0001c0001t0006 a0001c0001t0047 a0001c0003t0003	a0001c0001t0006g0102 a0001c0001t0006g0213 a0001c0001t0047g0266 others(2): Show a0001c0001t0006g0102 a0001c0001t0006g0213 a0001c0001t0047g0266 a0001c0003t0003g0211 a0001c0003t0003g0220	5	266	0.0188	-28	c.139 others(47): Show c.139+16756_139+16783delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	1/20			chr2	TogoVar

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