Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
STON2_chr14_81255652_81405324	81308819	TATATATG others(41): Show TATATATGTGTGTGTGTGTATATATATATATATACACATACATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03654.hp1 HG02109.hp2 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0041 a0002c0002t0005 a0002c0002t0041	a0002c0002t0005g0008 a0002c0002t0041g0010 a0002c0002t0005g0008 a0002c0002t0041g0010	2	264	0.0076	-48	c.742 others(67): Show c.742+15150_742+15197delGTATGTATGTATGTGTATATATATAT ATATACACACACACACATATAT		STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7						chr14	TogoVar
STPG2_chr4_97553872_98148476	97792631	CTTCCATC others(41): Show CTTCCATCCCACTGTGAAGCAAGGCCTACCAAGTCATACAATATCTAGA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02129.hp1 HG00558.hp2 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0164 a0001c0002t0001g0158 a0001c0002t0001g0164	2	266	0.0075	-48	c.120 others(69): Show c.1204+48094_1204+48141delTCTAGATATTGTATGACTTGGTAG GCCTTGCTTCACAGTGGGATGGAA		STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	9/10						chr4	TogoVar
STXBP5L_chr3_120903205_121429761	121313321	GGGGCGGC others(41): Show GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01123.hp2 others(13): Show HG00140.hp1 HG00639.hp1 HG01123.hp2 HG01255.hp2 HG01433.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG04184.hp1 HG04228.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0054 a0001c0001t0001g0281 a0001c0001t0001g0282 others(13): Show a0001c0001t0001g0054 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0007g0262 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0283	16	290	0.0552	-48	c.211 others(67): Show c.2111-5073_2111-5026delACCTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCC		STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr3	TogoVar
SUGT1_chr13_52647836_52705909	52700328	ACCTGCAT others(41): Show ACCTGCATAAAAGTATTTATGTATAGATGTACTTACCTTACACAGTAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0002 a0001c0001t0071g0002	1	310	0.0032	-48	c.12 others(61): Show c.12494_*12541delCCTGCATAAAAGTATTTATGTATAGATGTACT TACCTTACACAGTAAG		SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding	13/13				12494		chr13	TogoVar
SULF2_chr20_47652406_47790481	47745392	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	364	0.0028	-48	c.176 others(65): Show c.176-8498_176-8451delATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULT1B1_chr4_69716167_69765620	69762345	GCCCCATC others(41): Show GCCCCATCCGGGAGGGAGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02970.hp1 others(4): Show HG02559.hp2 HG02615.hp1 HG02970.hp1 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0075 a0002c0002t0085 others(1): Show a0002c0002t0027 a0002c0002t0075 a0002c0002t0085 a0002c0002t0086	a0002c0002t0027g0011 a0002c0002t0075g0130 a0002c0002t0085g0129 others(1): Show a0002c0002t0027g0011 a0002c0002t0075g0130 a0002c0002t0085g0129 a0002c0002t0086g0131	7	408	0.0172	-48	c.-19 others(59): Show c.-1979_-1932delTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCTC CCTCCCGGATGGGG		SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding					1726		chr4	TogoVar
SULT1C4_chr2_108372954_108393989	108374262	TCCCACTG others(41): Show TCCCACTGATTGAGCTCCTGGAGTTTTTCTGTTTTGGAGTTAGACTTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0074 a0001c0001t0023g0074	1	326	0.0031	-48	c.-40 others(59): Show c.-4075_-4028delCCCACTGATTGAGCTCCTGGAGTTTTTCTGTTTT GGAGTTAGACTTGG		SULT1C4	ENSG00000198075.10	transcript	ENST00000272452.7	protein_coding					3691		chr2	TogoVar
SUPT3H_chr6_44821726_45382934	45288547	GTATATAT others(41): Show GTATATATATATATATATGTATATATATATATATATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01069.hp1 others(29): Show HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp1 NA18522.hp1 NA19010.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0019 a0002c0003t0003	a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0061 others(29): Show a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0243 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0003g0027 a0001c0001t0003g0034 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0005g0010 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0051 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0012g0006 a0001c0001t0019g0214 a0002c0003t0003g0044 a0002c0003t0003g0048	32	262	0.1221	-48	c.101 others(67): Show c.101+76606_101+76653delTATATATATATACATATATATATATA TATACATATATATATATATATA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45288551	ATATATAT others(41): Show ATATATATATATATGTATATATATATATATATGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp1 HG01993.hp2 others(1): Show HG00423.hp2 HG01243.hp1 HG01993.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0016 a0001c0002t0002 a0001c0002t0016	a0001c0002t0002g0117 a0001c0002t0002g0130 a0001c0002t0002g0150 others(1): Show a0001c0002t0002g0117 a0001c0002t0002g0130 a0001c0002t0002g0150 a0001c0002t0016g0104	4	262	0.0153	-48	c.101 others(67): Show c.101+76602_101+76649delCACATATATATATATACATATATATA TATATATACATATATATATATA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT5H_chr19_39440582_39481670	39480253	CAAGAATG others(41): Show CAAGAATGATCAGTAAATACTAAGGGAACTCAGAGGCTGGAGGGATCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	378	0.0027	-48	c.38 others(59): Show c.3855_*3902delAAGAATGATCAGTAAATACTAAGGGAACTCAGAG GCTGGAGGGATCCT		SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding					3584		chr19	TogoVar
SV2C_chr5_76078383_76338956	76171710	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0076 a0001c0009t0076	a0001c0009t0076g0213 a0001c0009t0076g0213	1	234	0.0043	-48	c.581 others(67): Show c.581-23202_581-23155delTCAGCCCCCCGCCTGGCCAGCCGTGC CGTCCGGGAGGGAGGTGGGGGG		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SVOPL_chr7_138589285_138706362	138621814	GTATCTAT others(41): Show GTATCTATGTATCTATGTATCTATCTATCTATGTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG02647.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0011 a0001c0001t0003 a0002c0003t0011	a0001c0001t0003g0348 a0002c0003t0011g0356 a0001c0001t0003g0348 a0002c0003t0011g0356	2	360	0.0056	-48	c.126 others(65): Show c.1264-727_1264-680delGATAGATAGATAGATACATAGATAGATA GATACATAGATACATAGATA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SVOPL_chr7_138589285_138706362	138621970	CTATGTAT others(41): Show CTATGTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	360	0.0028	-48	c.126 others(65): Show c.1264-883_1264-836delCATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATACATA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SVOPL_chr7_138589285_138706362	138622074	CTATCTAT others(41): Show CTATCTATCTATCTATGTATCTATCTATCTATCTATCTATCTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0170 a0002c0006t0001g0170	1	360	0.0028	-48	c.126 others(65): Show c.1264-987_1264-940delCATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SYCE3_chr22_50546112_50567919	50547999	GCCCCAAC others(41): Show GCCCCAACCCCAGCCGCATCCCCTGCCCCAGCCCCCACCTCAGCCCCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00673.hp2 others(85): Show HG00408.hp2 HG00597.hp1 HG00673.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp1 HG02004.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02258.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19003.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19072.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204	88	414	0.2126	-48	c.31 others(59): Show c.3198_*3245delTTGGGGCTGAGGTGGGGGCTGGGGCAGGGGATGC GGCTGGGGTTGGGG		SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding					3112		chr22	TogoVar
SYN3_chr22_32502820_33063381	32564870	TAACAGCG others(41): Show TAACAGCGCTCCCGGACTGCACCCTAACAGTGCTCCCGGATTACACCCA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02622.hp1 HG03669.hp1 others(10): Show HG02074.hp2 HG02622.hp1 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18984.hp2 NA18995.hp2 NA19065.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0061 a0001c0001t0069 a0001c0001t0074 a0001c0001t0075 a0002c0002t0022 a0002c0002t0071	a0001c0001t0001g0035 a0001c0001t0002g0007 a0001c0001t0002g0174 others(10): Show a0001c0001t0001g0035 a0001c0001t0002g0007 a0001c0001t0002g0174 a0001c0001t0003g0017 a0001c0001t0003g0125 a0001c0001t0003g0176 a0001c0001t0015g0058 a0001c0001t0061g0034 a0001c0001t0069g0126 a0001c0001t0074g0071 a0001c0001t0075g0178 a0002c0002t0022g0001 a0002c0002t0071g0155	13	184	0.0707	-48	c.775 others(67): Show c.775-23205_775-23158delTGGGTGTAATCCGGGAGCACTGTTAG GGTGCAGTCCGGGAGCGCTGTT		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13						chr22	TogoVar
SYN3_chr22_32502820_33063381	32949770	TCATCATA others(41): Show TCATCATAATACTAAGCTGAAGCATGTTATTAGGCCAACAGGTCAATAG	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	184	0.0054	-48	c.370 others(67): Show c.370-18337_370-18290delCTATTGACCTGTTGGCCTAATAACAT GCTTCAGCTTAGTATTATGATG		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	3/13						chr22	TogoVar
SYNPO2L_chr10_73639886_73661029	73645395	ACTCATTT others(41): Show ACTCATTTCTGCCATGCTTCTGATTTTGGCCTCACTTGCCACACTCTGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0023 a0013c0011t0023	a0013c0011t0023g0050 a0013c0011t0023g0050	1	382	0.0026	-48	c.12 others(59): Show c.1275_*1322delCCAGAGTGTGGCAAGTGAGGCCAAAATCAGAAGC ATGGCAGAAATGAG		SYNPO2L	ENSG00000166317.12	transcript	ENST00000394810.3	protein_coding	4/4				1275		chr10	TogoVar
SYNPR_chr3_63273308_63621924	63314006	CATATATA others(41): Show CATATATATATATCCATATATATATATATCCATATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	246	0.0041	-48	c.84+ others(65): Show c.84+35310_84+35357delCATATATATATATATCCATATATATATA TATCCATATATATATATATC		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT17_chr16_19163240_19273332	19252450	CATATATA others(41): Show CATATATACATATATATATACATATATATATACATATATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0051 a0001c0001t0029g0051	1	324	0.0031	-48	c.122 others(69): Show c.1229-14387_1229-14340delACATATATATATACATATATATAT ACATATATATATACATATATATAT		SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
SYT1_chr12_78859774_79457008	79124558	CATCATCA others(41): Show CATCATCATCACCATCACCATTATCATCATCATCATCATCATCACCATT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	62	0.0161	-48	c.-18 others(67): Show c.-18+77212_-18+77259delACCATTATCATCATCATCATCATCAT CACCATTATCATCATCACCATC		SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
SYTL2_chr11_85689229_85816141	85816085	AACCTGGG others(41): Show AACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCATTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	366	0.0027	-48	c.-55 others(59): Show c.-5569_-5522delGAATGCAGTGGCGTGATCTCGGCTCACTGCAACC TCCGCCTCCCAGGT		SYTL2	ENSG00000137501.18	transcript	ENST00000359152.10	protein_coding					4945		chr11	TogoVar
SYTL3_chr6_158645054_158769871	158705439	GAGGGCCG others(41): Show GAGGGCCGTAAGGTCACATAGGGCAGGAGGGACCTGGGGACAGGGTGAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG00733.hp2 others(37): Show HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01891.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG04199.hp1 NA18995.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004 a0003c0006 a0004c0003 a0007c0009	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0003c0004t0001 a0003c0004t0005 a0003c0006t0001 a0004c0003t0001 a0007c0009t0001	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 others(37): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0229 a0001c0001t0001g0262 a0002c0002t0001g0016 a0002c0002t0001g0131 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0225 a0002c0005t0001g0124 a0002c0005t0001g0253 a0003c0004t0001g0070 a0003c0004t0001g0073 a0003c0004t0001g0202 a0003c0004t0001g0220 a0003c0004t0005g0033 a0003c0006t0001g0230 a0004c0003t0001g0200 a0004c0003t0001g0272 a0007c0009t0001g0204	40	292	0.1370	-48	c.395 others(65): Show c.395-1785_395-1738delCGTAAGGTCACATAGGGCAGGAGGGACC TGGGGACAGGGTGACAGGGC		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
TACC3_chr4_1716521_1750171	1739806	CCGTCCCC others(41): Show CCGTCCCCATCCCCCTCGCCATCCTTGTCCCCATCCCCCTCGCCATCCT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19005.hp1 NA18970.hp1 NA19005.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0041 a0002c0003t0001g0041	2	344	0.0058	-48	c.201 others(63): Show c.2018+29_2018+76delCGTCCCCATCCCCCTCGCCATCCTTGTCCC CATCCCCCTCGCCATCCT		TACC3	ENSG00000013810.21	transcript	ENST00000313288.9	protein_coding	11/15						chr4	TogoVar
TACR1_chr2_75041463_75204520	75154440	ACACACAC others(41): Show ACACACACACACTCTGAAGAAACCCAGTGGAGATTCAGCACTAACCCAC	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA21309.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0152 a0001c0002t0001g0222 a0001c0001t0002g0152 a0001c0002t0001g0222	2	282	0.0071	-48	c.390 others(67): Show c.390-33720_390-33673delGTGGGTTAGTGCTGAATCTCCACTGG GTTTCTTCAGAGTGTGTGTGTG		TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4						chr2	TogoVar
TACR2_chr10_69398903_69421918	69409865	GTATATAT others(41): Show GTATATATATATATATACATATATACATATATATATATACATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(66): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG01070.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01993.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18973.hp2 NA19002.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19066.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0008	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0007c0007 a0008c0011	a0001c0001t0001 a0001c0001t0030 a0003c0003t0003 others(11): Show a0001c0001t0001 a0001c0001t0030 a0003c0003t0003 a0003c0003t0005 a0003c0003t0016 a0003c0003t0019 a0003c0003t0036 a0004c0004t0001 a0004c0004t0002 a0004c0004t0025 a0007c0007t0011 a0007c0007t0028 a0008c0011t0009 a0008c0011t0023	a0001c0001t0001g0155 a0001c0001t0030g0094 a0003c0003t0003g0002 others(26): Show a0001c0001t0001g0155 a0001c0001t0030g0094 a0003c0003t0003g0002 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0204 a0003c0003t0003g0205 a0003c0003t0003g0210 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0215 a0003c0003t0003g0217 a0003c0003t0005g0011 a0003c0003t0005g0161 a0003c0003t0005g0162 a0003c0003t0016g0031 a0003c0003t0019g0203 a0003c0003t0036g0181 a0004c0004t0001g0096 a0004c0004t0002g0003 a0004c0004t0002g0018 a0004c0004t0002g0019 a0004c0004t0002g0028 a0004c0004t0002g0029 a0004c0004t0025g0080 a0007c0007t0011g0178 a0007c0007t0028g0085 a0008c0011t0009g0067 a0008c0011t0023g0055	69	382	0.1806	-48	c.588 others(63): Show c.588-838_588-791delTATATATATGTATATATATATATGTATATA TGTATATATATATATATA		TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	2/4						chr10	TogoVar
TARBP2_chr12_53496283_53511431	53498908	CTGTGTGT others(41): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG02040.hp2 HG02135.hp1 others(21): Show HG01258.hp2 HG02040.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG02818.hp2 HG03491.hp1 HG03491.hp2 HG03927.hp2 HG06807.hp1 NA18962.hp2 NA18964.hp1 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19054.hp2 NA19088.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0017	24	334	0.0719	-48	c.-25 others(59): Show c.-2500_-2453delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTG		TARBP2	ENSG00000139546.12	transcript	ENST00000266987.7	protein_coding					2374		chr12	TogoVar
TBC1D14_chr4_6904826_7038114	6933246	CCCCTCCC others(41): Show CCCCTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTTCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0214 a0001c0001t0027g0214	1	304	0.0033	-48	c.722 others(65): Show c.722+9139_722+9186delTCCCCTCCCCTCCCCTCCCTTCCCCTCC CCCTTCCCCTTCCCCTTCCC		TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	47061072	GGTCCTGG others(41): Show GGTCCTGGAAAGGTTGAGCCACGCTGTCTTCCTCGGTGCCCTCACCACC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	112	0.0089	-48	c.132 others(69): Show c.1329+23922_1329+23969delCGTCCTGGAAAGGTTGAGCCACGC TGTCTTCCTCGGTGCCCTCACCAC		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47061120	CGTCCTGG others(41): Show CGTCCTGGAAAGGTTGAGCCACGCTGTCTTCCTCGGTGCCCTCACCACG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp2 HG01884.hp2 others(4): Show HG00741.hp1 HG01433.hp2 HG01884.hp2 HG02109.hp2 HG03486.hp2 HG04199.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0002c0003t0003	a0001c0001t0001g0061 a0001c0001t0002g0018 a0001c0001t0002g0040 others(4): Show a0001c0001t0001g0061 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0004g0021 a0001c0001t0004g0070 a0001c0002t0001g0001 a0002c0003t0003g0028	7	112	0.0625	-48	c.132 others(69): Show c.1329+23981_1329+24028delGGTTGAGCCACGCTGTCTTCCTCG GTGCCCTCACCACGGTCCTGGAAA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47061183	GAGCCACG others(41): Show GAGCCACGCTGTCTTCCTCGGTGCCCTCACCACGGTCCTGGAAACGTTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0021 a0005c0006t0021	a0005c0006t0021g0019 a0005c0006t0021g0019	1	112	0.0089	-48	c.132 others(69): Show c.1329+24018_1329+24065delGGTCCTGGAAACGTTAAGCCACGC TGTCTTCCTCGGTGCCCTCACCAC		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D5_chr3_17152168_17747631	17401332	CATATATG others(41): Show CATATATGTATAATATACATATATATGTATGTGTATAATATACATATGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01433.hp1 others(28): Show HG00280.hp1 HG01109.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18957.hp2 NA18975.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0159 a0001c0001t0003g0109 a0001c0001t0004g0114 a0001c0001t0004g0161 a0001c0001t0006g0003 a0001c0001t0006g0043 a0001c0001t0006g0110 a0001c0001t0009g0123 a0001c0001t0011g0158 a0001c0001t0011g0160 a0001c0001t0012g0162 a0002c0002t0001g0033 a0002c0002t0001g0154 a0003c0005t0001g0115	31	162	0.1914	-48	c.509 others(65): Show c.509+1801_509+1848delACATATGTATATTATACACATACATATA TATGTATATTATACATATAT		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	8/22						chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17705201	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0058 a0001c0003t0005g0058	1	162	0.0062	-48	c.-10 others(69): Show c.-101+37232_-101+37279delTCAGCCCCCCGCCTGGCCAGCCGT GCCGTCCGGGAGGGAGGTGGGGGG		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22						chr3	TogoVar
TBXAS1_chr7_139824264_140025293	139865650	AGAGGAGG others(41): Show AGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01099.hp2 others(39): Show HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01361.hp2 HG01928.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG04184.hp1 NA18959.hp2 NA18970.hp1 NA18977.hp1 NA18982.hp2 NA19060.hp1 NA19077.hp1 NA19081.hp2 NA20300.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0006c0006 a0007c0005 others(1): Show a0001c0001 a0006c0006 a0007c0005 a0008c0011	a0001c0001t0001 a0006c0006t0001 a0007c0005t0001 others(1): Show a0001c0001t0001 a0006c0006t0001 a0007c0005t0001 a0008c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 others(39): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0252 a0006c0006t0001g0216 a0007c0005t0001g0101 a0007c0005t0001g0128 a0008c0011t0001g0138	42	270	0.1556	-48	c.90- others(63): Show c.90-6555_90-6508delAGAGGAGGAGGAGGAAGAGGAGGAGGAGGA GGAAGAGGAGGAGGAGGA		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950658	TCCCTCAC others(41): Show TCCCTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG02559.hp2 others(3): Show HG00323.hp2 HG01081.hp1 HG02559.hp2 HG02886.hp1 HG03486.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0117 a0001c0001t0001g0132 others(3): Show a0001c0001t0001g0084 a0001c0001t0001g0117 a0001c0001t0001g0132 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0001g0243	6	270	0.0222	-48	c.451 others(65): Show c.451-2704_451-2657delACCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTC		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950763	CTCCATCT others(41): Show CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02145.hp2 others(5): Show HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02965.hp1 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0081 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0106 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0224 a0001c0001t0002g0001	8	270	0.0296	-48	c.451 others(65): Show c.451-2557_451-2510delTTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCC		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCERG1L_chr10_131087391_131316721	131090909	GAGCTCAG others(41): Show GAGCTCAGCAGGAGGCAGCACTGTGGGCAGGGGCGGGGCTGGGACCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02055.hp1 others(3): Show HG00741.hp2 HG01243.hp1 HG02055.hp1 HG02145.hp2 HG03209.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0002c0004t0002 a0001c0001t0002 a0001c0001t0004 a0002c0004t0002	a0001c0001t0002g0201 a0001c0001t0002g0268 a0001c0001t0002g0277 others(3): Show a0001c0001t0002g0201 a0001c0001t0002g0268 a0001c0001t0002g0277 a0001c0001t0004g0081 a0001c0001t0004g0102 a0002c0004t0002g0226	6	324	0.0185	-48	c.22 others(59): Show c.2205_*2252delTCTGGTCCCAGCCCCGCCCCTGCCCACAGTGCTG CCTCCTGCTGAGCT		TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding					1481		chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131220946	GCACCTGC others(41): Show GCACCTGCGGTGTGGTCACTGAGGCAGCCCCACCCCCGGAGCAACTGGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	324	0.0031	-48	c.856 others(67): Show c.856+39265_856+39312delTCCAGTTGCTCCGGGGGTGGGGCTGC CTCAGTGACCACACCGCAGGTG		TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11						chr10	TogoVar
TCF7L2_chr10_112945247_113172678	113117386	TCTCTCTC others(41): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01346.hp1 others(9): Show HG01099.hp1 HG01109.hp1 HG01346.hp1 HG01515.hp2 HG01884.hp1 HG02145.hp2 HG02572.hp1 HG02622.hp1 HG03209.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0026 a0003c0003t0004	a0001c0001t0001g0125 a0001c0001t0002g0012 a0001c0001t0002g0107 others(9): Show a0001c0001t0001g0125 a0001c0001t0002g0012 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0142 a0001c0001t0003g0170 a0001c0001t0005g0033 a0001c0001t0006g0157 a0001c0001t0011g0159 a0001c0001t0014g0083 a0001c0001t0026g0124 a0003c0003t0004g0084	12	200	0.0600	-48	c.553 others(67): Show c.553-23773_553-23726delCTCTCTCTCTCTCTCTCTCTCTCCCT CTCTCTCTCTCTCTCTCTCTCT		TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
TCFL5_chr20_62836005_62866822	62839641	ATGCCCTG others(41): Show ATGCCCTGGAGCCCTCTCCTCTCCTCCACCCACCCCACCTCTCCCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp2 others(94): Show HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18956.hp1 NA18971.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0004 a0001c0001 a0001c0003 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0003t0001 a0004c0004t0010	a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0016 others(51): Show a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0003g0018 a0001c0001t0003g0052 a0001c0001t0004g0006 a0001c0001t0004g0010 a0001c0001t0004g0035 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0081 a0001c0001t0008g0012 a0001c0001t0008g0067 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0071 a0001c0001t0011g0019 a0001c0001t0011g0082 a0001c0001t0011g0083 a0001c0001t0011g0084 a0001c0001t0019g0070 a0001c0003t0001g0175 a0004c0004t0010g0049 a0004c0004t0010g0176	97	390	0.2487	-48	c.22 others(59): Show c.2286_*2333delCCCAGGGAGAGGTGGGGTGGGTGGAGGAGAGGAG AGGGCTCCAGGGCA		TCFL5	ENSG00000101190.13	transcript	ENST00000335351.8	protein_coding					1363		chr20	TogoVar
TCHH_chr1_152101317_152120444	152108587	CCTGGCGG others(41): Show CCTGGCGGCGCAGCTGCTGTTCCTCCTGGAGGAATTTTCTCTGCCGTTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00544.hp1 NA18970.hp1 NA18993.hp1 others(2): Show HG00544.hp1 NA18970.hp1 NA18993.hp1 NA19079.hp1 NA19085.hp1	a0043 a0069 a0073 others(1): Show a0043 a0069 a0073 a0075	a0043c0039 a0069c0074 a0073c0070 others(1): Show a0043c0039 a0069c0074 a0073c0070 a0075c0068	a0043c0039t0002 a0069c0074t0002 a0073c0070t0002 others(1): Show a0043c0039t0002 a0069c0074t0002 a0073c0070t0002 a0075c0068t0002	a0043c0039t0002g0043 a0069c0074t0002g0095 a0073c0070t0002g0091 others(1): Show a0043c0039t0002g0043 a0069c0074t0002g0095 a0073c0070t0002g0091 a0075c0068t0002g0090	5	402	0.0124	-48	c.458 others(57): Show c.4582_4629delCAACGGCAGAGAAAATTCCTCCAGGAGGAACAGCAG CTGCGCCGCCAG	p.Gln others(15): Show p.Gln1528_Gln1543del	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	4714/6985	4582/5832	1528/1943			chr1	TogoVar
TECTB_chr10_112278400_112310038	112300230	TAAAGAAA others(41): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03516.hp2 HG01515.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0001 a0001c0001t0012 a0001c0002t0001	a0001c0001t0012g0118 a0001c0002t0001g0175 a0001c0001t0012g0118 a0001c0002t0001g0175	2	438	0.0046	-48	c.907 others(63): Show c.907+670_907+717delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA		TECTB	ENSG00000119913.6	transcript	ENST00000646139.2	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
TELO2_chr16_1488360_1515454	1507749	GTGTGTCG others(41): Show GTGTGTCGGCCCGGGGTGTGTGTGTATGTGTGTGTGTGTGTGTGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG01070.hp1 others(41): Show HG00408.hp1 HG00544.hp1 HG01070.hp1 HG01071.hp1 HG01261.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG03710.hp2 HG03834.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18969.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA19002.hp2 NA19003.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19074.hp1 NA19079.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA20752.hp2	a0004 a0008 a0010 others(3): Show a0004 a0008 a0010 a0012 a0013 a0027	a0004c0035 a0008c0008 a0008c0028 others(9): Show a0004c0035 a0008c0008 a0008c0028 a0008c0068 a0010c0012 a0010c0054 a0012c0022 a0012c0044 a0012c0048 a0013c0036 a0013c0064 a0027c0055	a0004c0035t0002 a0008c0008t0002 a0008c0008t0006 others(12): Show a0004c0035t0002 a0008c0008t0002 a0008c0008t0006 a0008c0008t0007 a0008c0028t0006 a0008c0028t0007 a0008c0068t0006 a0010c0012t0007 a0010c0054t0007 a0012c0022t0007 a0012c0044t0007 a0012c0048t0025 a0013c0036t0006 a0013c0064t0006 a0027c0055t0002	a0004c0035t0002g0019 a0008c0008t0002g0262 a0008c0008t0006g0014 others(40): Show a0004c0035t0002g0019 a0008c0008t0002g0262 a0008c0008t0006g0014 a0008c0008t0006g0015 a0008c0008t0006g0068 a0008c0008t0006g0069 a0008c0008t0006g0122 a0008c0008t0006g0199 a0008c0008t0006g0253 a0008c0008t0006g0258 a0008c0008t0006g0261 a0008c0008t0006g0271 a0008c0008t0006g0274 a0008c0008t0006g0347 a0008c0008t0006g0348 a0008c0008t0007g0014 a0008c0008t0007g0015 a0008c0028t0006g0213 a0008c0028t0006g0214 a0008c0028t0007g0215 a0008c0068t0006g0121 a0010c0012t0007g0023 a0010c0012t0007g0256 a0010c0012t0007g0257 a0010c0012t0007g0259 a0010c0012t0007g0263 a0010c0012t0007g0264 a0010c0012t0007g0265 a0010c0012t0007g0266 a0010c0012t0007g0272 a0010c0012t0007g0275 a0010c0012t0007g0297 a0010c0054t0007g0349 a0012c0022t0007g0014 a0012c0022t0007g0251 a0012c0022t0007g0252 a0012c0022t0007g0340 a0012c0044t0007g0023 a0012c0048t0025g0334 a0013c0036t0006g0015 a0013c0036t0006g0248 a0013c0064t0006g0240 a0027c0055t0002g0276	44	446	0.0987	-48	c.240 others(64): Show c.2407+58_2407+105delATGTGTGTGTGTGTGTGTGAGAGATGTGT CGGCCCGGGGTGTGTGTGT		TELO2	ENSG00000100726.15	transcript	ENST00000262319.11	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
TENM2_chr5_166974029_168269157	168185924	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATTTGAATT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG02818.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0001 a0001c0002t0001g0044 a0001c0001t0006g0001 a0001c0002t0001g0044	2	54	0.0370	-48	c.257 others(67): Show c.2570-4393_2570-4346delATATATATATATATATATATATTTGA ATTTATATATATATATATATAT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	168236954	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0014 a0002c0024t0014	a0002c0024t0014g0048 a0002c0024t0014g0048	1	54	0.0185	-48	c.552 others(67): Show c.5521-7464_5521-7417delATATATATATATATATATATATATAT ATATATATATATATATATATTT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	27/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM3_chr4_182238402_182808024	182578559	TCTTAAGA others(41): Show TCTTAAGAAAATAGTCATCACTTCACAGCCTGATTGCTGTCACATGGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02886.hp2 HG02109.hp1 HG02451.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0018 a0001c0002 a0001c0010 a0001c0018	a0001c0002t0001 a0001c0010t0006 a0001c0018t0003 a0001c0002t0001 a0001c0010t0006 a0001c0018t0003	a0001c0002t0001g0121 a0001c0010t0006g0124 a0001c0018t0003g0054 a0001c0002t0001g0121 a0001c0010t0006g0124 a0001c0018t0003g0054	3	140	0.0214	-48	c.512 others(67): Show c.512-22313_512-22266delAAGAAAATAGTCATCACTTCACAGCC TGATTGCTGTCACATGGCCCTT		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TERB2_chr15_44951687_44984229	44965577	AATCTATA others(41): Show AATCTATATATCATATAGATTTATATATTTAATAGATATATAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	346	0.0029	-48	c.349 others(63): Show c.349-571_349-524delTCATATAGATTTATATATTTAATAGATATA TAAATATATATCTATATA		TERB2	ENSG00000167014.11	transcript	ENST00000340827.4	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
TEX43_chr5_126626705_126641284	126637916	GAGGGAGG others(41): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	424	0.0024	-48	c.16 others(59): Show c.1676_*1723delAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GAAGGAAGGAAGGA		TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding					1633		chr5	TogoVar
TEX46_chr1_23005834_23020852	23017175	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	434	0.0023	-48	c.-14 others(59): Show c.-1450_-1403delTATATATATATATATATATATATATATATATATA TATATATATATAAA		TEX46	ENSG00000227868.7	transcript	ENST00000566855.4	protein_coding					1324		chr1	TogoVar
TFB1M_chr6_155251134_155319484	155305222	ATATATAT others(41): Show ATATATATATATTAAATTATATATTTATATATATATTAAATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02055.hp2 others(3): Show HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02818.hp1 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0012 a0001c0001t0018	a0001c0001t0012g0024 a0001c0001t0012g0264 a0001c0001t0012g0265 others(2): Show a0001c0001t0012g0024 a0001c0001t0012g0264 a0001c0001t0012g0265 a0001c0001t0012g0266 a0001c0001t0018g0263	6	348	0.0172	-48	c.285 others(65): Show c.285+5918_285+5965delAATATATAATTTAATATATATATAAATA TATAATTTAATATATATATA		TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6						chr6	TogoVar

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