Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	384	0.0026	52	c.762 others(71): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01952.hp1 NA18954.hp1 others(1): Show HG00408.hp2 HG01952.hp1 NA18954.hp1 NA18955.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0001	a0001c0001t0002g0148 a0002c0002t0002g0228 a0002c0002t0002g0262 others(1): Show a0001c0001t0002g0148 a0002c0002t0002g0228 a0002c0002t0002g0262 a0003c0003t0001g0203	4	384	0.0104	52	c.762 others(71): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0366 a0003c0003t0001g0366	1	384	0.0026	52	c.762 others(71): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STK26_chrX_132018302_132080943	132028653	T T	TTGTAAGA others(45): Show TTGTAAGAAAAGTAAGGGTTGTAAGAAAAGTAAGGGTGTAAGAAAAGTAA GGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	244	0.0041	52	c.42+ others(67): Show c.42+4997_42+5048dupTAAGAAAAGTAAGGGTTGTAAGAAAAGTAA GGGTGTAAGAAAAGTAAGGGTG	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
STK32B_chr4_5046480_5505989	5159578	T T	TATATATG others(45): Show TATATATGAATGAATATATATGAATATATATGAATATATATGAATATATA TGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0144 a0001c0001t0018g0144	1	170	0.0059	52	c.109 others(69): Show c.109-8715_109-8714insGAATGAATATATATGAATATATATGAAT ATATATGAATATATATGAATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5254965	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0134 a0001c0001t0021g0134	1	170	0.0059	52	c.261 others(71): Show c.261-76243_261-76242insATATATATATATATATATATATATAT ATATATATATATATATATATATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5317311	C C	CATATCTA others(45): Show CATATCTATAATATATAACATATAACATATCTATAATATATAACATATAA CAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03540.hp2 NA18522.hp1 others(2): Show HG01167.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0007 a0001c0003 a0002c0004 a0002c0007	a0001c0003t0001 a0001c0003t0002 a0002c0004t0019 others(1): Show a0001c0003t0001 a0001c0003t0002 a0002c0004t0019 a0002c0007t0010	a0001c0003t0001g0061 a0001c0003t0001g0112 a0001c0003t0002g0047 others(2): Show a0001c0003t0001g0061 a0001c0003t0001g0112 a0001c0003t0002g0047 a0002c0004t0019g0073 a0002c0007t0010g0003	5	170	0.0294	52	c.261 others(71): Show c.261-13905_261-13904insCTATAATATATAACATATAACATATC TATAATATATAACATATAACATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK33_chr11_8386870_8599228	8553174	A A	ATATATAT others(45): Show ATATATATATATATATATATATGGTGTATATATATATATATATATATATG GTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	334	0.0030	52	c.-46 others(73): Show c.-466+40908_-466+40909insCACCATATATATATATATATATAT ATACACCATATATATATATATATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STN1_chr10_103872569_103923184	103909376	A A	ATGTATAT others(45): Show ATGTATATATATGTATATATATATGTATATATGTATGTATATATATGTAT ATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01257.hp1 others(9): Show HG00741.hp2 HG01167.hp2 HG01257.hp1 HG01258.hp1 HG02698.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024	a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 others(8): Show a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0097 a0001c0001t0003g0202 a0001c0001t0014g0068 a0001c0001t0014g0096 a0001c0001t0014g0190 a0001c0001t0023g0010 a0001c0001t0024g0056 a0001c0001t0024g0061	12	382	0.0314	52	c.229 others(69): Show c.229+1150_229+1151insCATATACATATATATACATACATATATA CATATATATATACATATATATACA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding	3/9			chr10	TogoVar
STN1_chr10_103872569_103923184	103909426	A A	ATATATGT others(45): Show ATATATGTATATATATGTATATATGTATATATATGTGTATATATGTATAT ATG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0227 a0001c0001t0007g0227	1	382	0.0026	52	c.229 others(69): Show c.229+1100_229+1101insCATATATACATATATACACATATATATA CATATATACATATATATACATATA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding	3/9			chr10	TogoVar
STX2_chr12_130784600_130844250	130843024	G G	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAA AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0073 a0002c0002t0018g0073	1	380	0.0026	52	c.-39 others(63): Show c.-3926_-3925insTTTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTCCTTCCTTCCTTC	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3775		chr12	TogoVar
STXBP3_chr1_108741674_108814523	108771892	C C	CTATATAT others(45): Show CTATATATCATATATAAATACATATGATATCTATCATATATAAATACATA TGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	334	0.0030	52	c.439 others(67): Show c.439-770_439-769insATATCATATATAAATACATATGATATCTAT CATATATAAATACATATGATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771895	T T	TATATCAT others(45): Show TATATCATATATAAATACATATGATATCTATATATCATATATAAATACAT ATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	334	0.0030	52	c.439 others(67): Show c.439-770_439-769insATATCATATATAAATACATATGATATCTAT ATATCATATATAAATACATATG	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18			chr1	TogoVar
SUFU_chr10_102498972_102638535	102637926	A A	AATATACA others(45): Show AATATACATGATCATATAAAATATATAATATAATATACATGATCATATAA AAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG02280.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0213 a0001c0001t0005g0078 a0001c0001t0001g0213 a0001c0001t0005g0078	2	268	0.0075	52	c.77 others(63): Show c.7771_*7772insATATACATGATCATATAAAATATATAATATAATA TACATGATCATATAAAAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4392		chr10	TogoVar
SUSD1_chr9_112035783_112180297	112138238	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATGTATATA CAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01978.hp1 HG00741.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0131 a0001c0002t0003g0279 a0001c0001t0001g0131 a0001c0002t0003g0279	2	338	0.0059	52	c.706 others(69): Show c.706+4081_706+4082insGTGTATATACATATATATATATATATAT ATATATATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SUSD1_chr9_112035783_112180297	112138240	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATGTATATA CAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0063 a0001c0003t0004g0063	1	338	0.0030	52	c.706 others(69): Show c.706+4079_706+4080insGTGTATATACATATATATATATATATAT ATATATATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SV2C_chr5_76078383_76338956	76172420	T T	TGGGGGGG others(45): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01943.hp1 HG02080.hp1 others(19): Show HG00741.hp1 HG01943.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02647.hp2 HG03540.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18906.hp2 NA18955.hp1 NA18968.hp1 NA18968.hp2 NA18992.hp2 NA19005.hp1 NA19011.hp2 NA19056.hp1 NA19063.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0003c0004 a0003c0005 a0007c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0056 a0001c0001t0074 a0001c0001t0133 a0001c0002t0014 a0001c0002t0020 a0001c0002t0029 a0001c0002t0098 a0002c0003t0033 a0002c0003t0049 a0002c0006t0061 a0002c0006t0062 a0002c0006t0094 a0003c0004t0016 a0003c0004t0039 a0003c0005t0019 a0003c0005t0030 a0007c0014t0005	a0001c0001t0001g0031 a0001c0001t0003g0165 a0001c0001t0005g0099 others(19): Show a0001c0001t0001g0031 a0001c0001t0003g0165 a0001c0001t0005g0099 a0001c0001t0008g0127 a0001c0001t0011g0056 a0001c0001t0056g0069 a0001c0001t0074g0208 a0001c0001t0133g0157 a0001c0002t0014g0134 a0001c0002t0020g0073 a0001c0002t0029g0146 a0001c0002t0098g0113 a0002c0003t0033g0169 a0002c0003t0049g0025 a0002c0006t0061g0049 a0002c0006t0062g0068 a0002c0006t0094g0142 a0003c0004t0016g0166 a0003c0004t0039g0062 a0003c0005t0019g0060 a0003c0005t0030g0137 a0007c0014t0005g0180	22	234	0.0940	52	c.581 others(71): Show c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110390336	C C	CTTATATA others(45): Show CTTATATAAGTATGTGTATATATACTTATATATATACTTATATAAGTATA TAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG00741.hp1 others(24): Show HG00280.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01516.hp1 HG02698.hp1 HG02809.hp1 HG02965.hp2 HG03239.hp2 HG03516.hp2 HG03654.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp2 NA18906.hp2 NA18975.hp1 NA18993.hp2 NA19030.hp1 NA19043.hp2 NA19066.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp1	a0001 a0005 a0007 others(7): Show a0001 a0005 a0007 a0011 a0013 a0040 a0047 a0048 a0093 a0103	a0001c0061 a0005c0005 a0005c0045 others(13): Show a0001c0061 a0005c0005 a0005c0045 a0005c0060 a0005c0158 a0007c0019 a0007c0035 a0007c0159 a0011c0025 a0013c0041 a0040c0040 a0047c0108 a0047c0147 a0048c0057 a0093c0114 a0103c0131	a0001c0061t0010 a0005c0005t0001 a0005c0005t0002 others(17): Show a0001c0061t0010 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0004 a0005c0045t0002 a0005c0060t0008 a0005c0158t0007 a0007c0019t0001 a0007c0019t0004 a0007c0035t0001 a0007c0159t0008 a0011c0025t0016 a0013c0041t0003 a0040c0040t0004 a0047c0108t0004 a0047c0147t0004 a0048c0057t0004 a0093c0114t0004 a0103c0131t0003	a0001c0061t0010g0003 a0005c0005t0001g0070 a0005c0005t0002g0038 others(23): Show a0001c0061t0010g0003 a0005c0005t0001g0070 a0005c0005t0002g0038 a0005c0005t0003g0341 a0005c0005t0004g0001 a0005c0005t0004g0231 a0005c0045t0002g0305 a0005c0045t0002g0307 a0005c0060t0008g0004 a0005c0158t0007g0009 a0007c0019t0001g0042 a0007c0019t0004g0091 a0007c0035t0001g0109 a0007c0035t0001g0110 a0007c0035t0001g0340 a0007c0159t0008g0016 a0011c0025t0016g0266 a0013c0041t0003g0025 a0013c0041t0003g0026 a0040c0040t0004g0051 a0040c0040t0004g0199 a0047c0108t0004g0058 a0047c0147t0004g0053 a0048c0057t0004g0077 a0093c0114t0004g0076 a0103c0131t0003g0328	27	362	0.0746	52	c.982 others(69): Show c.9823-750_9823-749insATATATACTTATATAAGTATATATATAA GTATATATACACATACTTATATAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110541750	C C	CATCTATA others(45): Show CATCTATATACATAGATATCTATATATATCTATATACATAGATATCTATA TAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG02698.hp1 others(5): Show HG00738.hp2 HG01074.hp1 HG02698.hp1 HG03942.hp1 HG04184.hp2 NA18962.hp2 NA19068.hp2 NA19074.hp2	a0007 a0013 a0035 a0007 a0013 a0035	a0007c0035 a0013c0041 a0035c0029 a0007c0035 a0013c0041 a0035c0029	a0007c0035t0001 a0013c0041t0003 a0035c0029t0001 a0007c0035t0001 a0013c0041t0003 a0035c0029t0001	a0007c0035t0001g0109 a0007c0035t0001g0110 a0007c0035t0001g0340 others(5): Show a0007c0035t0001g0109 a0007c0035t0001g0110 a0007c0035t0001g0340 a0013c0041t0003g0025 a0013c0041t0003g0026 a0035c0029t0001g0311 a0035c0029t0001g0312 a0035c0029t0001g0313	8	362	0.0221	52	c.964 others(69): Show c.964+4313_964+4364dupATATATAGATATCTATGTATATAGATAT ATATAGATATCTATGTATATAGAT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	3/47			chr9	TogoVar
SVOP_chr12_108902741_109026068	108903287	G G	GAGAAAGG others(45): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	288	0.0035	52	c.92 others(63): Show c.9247_*9248insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTTCT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4453		chr12	TogoVar
SWAP70_chr11_9659077_9757993	9705745	G G	GCACTGGT others(45): Show GCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGT ATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA20300.hp1 HG02896.hp2 HG02897.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0001 a0001c0003t0013g0002 a0001c0003t0013g0003 a0001c0003t0013g0001 a0001c0003t0013g0002 a0001c0003t0013g0003	3	294	0.0102	52	c.241 others(69): Show c.241-7670_241-7669insACACTGGTGATCTGTATACACTGGTGAT CTGTGTATACTTGGTGATCTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706165	T T	TTGGTGAT others(45): Show TTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0044 a0001c0002t0032g0044	1	294	0.0034	52	c.241 others(69): Show c.241-7237_241-7186dupATACACTGGTGATCTGTGTATACTTGGT GATCTGTATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706252	T T	TTGGTGAT others(45): Show TTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00621.hp1 others(28): Show HG00423.hp1 HG00609.hp2 HG00621.hp1 HG01243.hp1 HG01433.hp2 HG01928.hp1 HG01975.hp2 HG01993.hp2 HG02135.hp2 HG02148.hp1 HG02273.hp2 HG02572.hp1 HG03130.hp2 HG03669.hp1 NA18939.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18969.hp2 NA18975.hp2 NA18986.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19007.hp1 NA19012.hp1 NA19063.hp1 NA19064.hp2 NA19074.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 others(2): Show a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0025 a0002c0001t0001	a0001c0002t0002g0130 a0001c0003t0003g0011 a0001c0003t0003g0029 others(28): Show a0001c0002t0002g0130 a0001c0003t0003g0011 a0001c0003t0003g0029 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0079 a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0198 a0001c0003t0003g0199 a0001c0003t0003g0200 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0207 a0001c0003t0003g0214 a0001c0003t0003g0226 a0001c0003t0003g0229 a0001c0003t0003g0232 a0001c0003t0004g0208 a0001c0003t0004g0209 a0001c0003t0004g0210 a0001c0003t0004g0211 a0001c0003t0004g0221 a0001c0003t0004g0227 a0001c0003t0004g0253 a0001c0003t0025g0228 a0002c0001t0001g0274	31	294	0.1054	52	c.241 others(69): Show c.241-7145_241-7094dupCTGGTGATCTGTGTATACTTGGTGATCT GTATACACTGGTGATCTGTATACA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706301	A A	ACACTGGT others(45): Show ACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGT ATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03490.hp1 HG00280.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0137 a0001c0002t0002g0104 a0001c0002t0002g0137	2	294	0.0068	52	c.241 others(69): Show c.241-7114_241-7113insGCACTGGTGATCTGTATACACTGGTGAT CTGTGTATACTTGGTGATCTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	426	0.0024	52	c.236 others(67): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(45): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAA AGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02698.hp2 HG03098.hp1 others(3): Show HG01081.hp2 HG02698.hp2 HG03098.hp1 HG03669.hp2 HG04228.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0077 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0077 a0001c0003t0052 a0002c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0003g0017 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0003g0017 a0001c0001t0077g0013 a0001c0003t0052g0104 a0002c0002t0002g0085	6	184	0.0326	52	c.711 others(71): Show c.711+50590_711+50591insCCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(45): Show AAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGAAAGAAAGGAAGAA AGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0040 a0001c0003t0004g0040	1	184	0.0054	52	c.711 others(71): Show c.711+50590_711+50591insCCTTTCTTCCTTTCTTTCTTTCTTCC TTTCTTCCTTTCTTTCTTTCTTTCTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYNE3_chr14_95402266_95521650	95429967	T T	TAAGGAAG others(45): Show TAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0007 a0007	a0007c0036 a0007c0036	a0007c0036t0135 a0007c0036t0135	a0007c0036t0135g0358 a0007c0036t0135g0358	1	384	0.0026	52	c.272 others(71): Show c.2727+2111_2727+2112insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTT	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNPR_chr3_63273308_63621924	63313746	C C	CATATATA others(45): Show CATATATATATATCCATATATATATCCATATATATATCCATATATATATC CAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01255.hp1 others(4): Show HG00323.hp1 HG00738.hp2 HG01255.hp1 HG01496.hp2 HG03239.hp1 HG03490.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0124 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0124 a0001c0001t0002g0132 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0007g0125	7	246	0.0285	52	c.84+ others(69): Show c.84+35014_84+35015insATCCATATATATATCCATATATATATCC ATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313772	T T	TATATATA others(45): Show TATATATATATATCCATATATATATCCATATATATATCCATATATATATA TCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0225 a0001c0001t0004g0225	1	246	0.0041	52	c.84+ others(69): Show c.84+35040_84+35041insATCCATATATATATCCATATATATATCC ATATATATATATCCATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313772	T T	TATATATA others(45): Show TATATATATATCCATATATATATCCATATATATATATCCATATATATATA TCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0232 a0001c0001t0009g0232	1	246	0.0041	52	c.84+ others(69): Show c.84+35052_84+35053insCCATATATATATATCCATATATATATAT CCATATATATATCCATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313978	T T	TATATATC others(45): Show TATATATCCATATATATATATATCCATATATATATCCATATATATATATA TCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0223 a0001c0001t0009g0223	1	246	0.0041	52	c.84+ others(69): Show c.84+35242_84+35243insCCATATATATATATATCCATATATATAT CCATATATATATATATCCATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63386600	T T	TTTCCTTC others(45): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	246	0.0041	52	c.85- others(69): Show c.85-94230_85-94229insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT14_chr1_209933217_210176315	210071264	G G	GTAAGTAG others(45): Show GTAAGTAGTATAATTTATATATATATATATATATATATATAAGTAGTATA AAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19070.hp1 HG03139.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0065 a0002c0002t0074 a0001c0001t0065 a0002c0002t0074	a0001c0001t0065g0281 a0002c0002t0074g0142 a0001c0001t0065g0281 a0002c0002t0074g0142	2	358	0.0056	52	c.443 others(71): Show c.443-23047_443-23046insATTTATATATATATATATATATATAT ATAAGTAGTATAAAATAAGTAGTATA	SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT15B_chr10_47739717_47768592	47743313	C C	CACATATA others(45): Show CACATATATATACACATATATATATACATATATATATACACATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01361.hp2 HG00408.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0001 a0001c0001t0018g0108 a0001c0001t0002g0001 a0001c0001t0018g0108	2	340	0.0059	52	c.10 others(65): Show c.10858_*10859insATATATATATATGTGTATATATATATGTATAT ATATATGTGTATATATATGT	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		1403		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47743313	C C	CACATATA others(45): Show CACATATATATATACACATATATATACATATATATATACACATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0028 a0001c0001t0020g0124 a0001c0001t0020g0028 a0001c0001t0020g0124	2	340	0.0059	52	c.10 others(65): Show c.10858_*10859insATATATATATATGTGTATATATATATGTATAT ATATGTGTATATATATATGT	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		1403		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47743315	C C	CATATATA others(45): Show CATATATATATACATATATATATACATATATATATACACATATATATATA CAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0059 a0001c0001t0049g0059	1	340	0.0029	52	c.10 others(65): Show c.10856_*10857insATGTATATATATATGTGTATATATATATGTAT ATATATATGTATATATATAT	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		1401		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47743327	T T	TATATATA others(45): Show TATATATATACATATATATATACACATATATATATATACATATATATATA CAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0143 a0001c0001t0022g0143	1	340	0.0029	52	c.10 others(65): Show c.10844_*10845insGTGTATATATATATGTATATATATATATGTGT ATATATATATGTATATATAT	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		1389		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47743343	T T	TATATATA others(45): Show TATATATATACACATATATATATACATATATATATACACATATATATATA TAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0027 a0001c0001t0014g0027	1	340	0.0029	52	c.10 others(65): Show c.10828_*10829insGTATATATATATATGTGTATATATATATGTAT ATATATATGTGTATATATAT	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		1373		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744413	G G	GGGGGGGG others(45): Show GGGGGGGGTTGGGGGGGGAGGGGGGAAGGGGGGGTTGGGGGGGGAGGGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	340	0.0029	52	c.97 others(63): Show c.9758_*9759insTTCCCCCCTCCCCCCCCAACCCCCCCTTCCCCCC TCCCCCCCCAACCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		303		chr10	TogoVar
SYTL3_chr6_158645054_158769871	158704861	G G	GCAGGGTG others(45): Show GCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAGGGACCTGG GGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp1 HG02451.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0020 a0003c0006t0001g0058 a0001c0001t0001g0020 a0003c0006t0001g0058	2	292	0.0069	52	c.395 others(69): Show c.395-2350_395-2349insATAAGGCCACATAGGGCAGGAGGGACCT GGGGACAGGGTGACAGTGAGGGCT	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA2_chr12_61703273_62197773	61724801	G G	GTGTATAC others(45): Show GTGTATACACCAGATGGGTGTATATGTATATACACCAGATGGGTGTATAT GTA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	220	0.0046	52	c.385 others(71): Show c.385-14385_385-14384insTACATATACACCCATCTGGTGTATAT ACATATACACCCATCTGGTGTATACA	TAFA2	ENSG00000198673.11	transcript	ENST00000416284.8	protein_coding	4/4			chr12	TogoVar
TAFA5_chr22_48484553_48756932	48608073	A A	AGCCAGCC others(45): Show AGCCAGCCCCTCCCACAGTCCCGGGCTGCCAGCCCCTCCCACGGCCCCAG GCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01069.hp2 others(25): Show HG00140.hp2 HG00323.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0003t0012	a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0085 others(25): Show a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0001t0001g0177 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0188 a0001c0001t0002g0239 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0056 a0001c0001t0003g0088 a0001c0001t0003g0160 a0001c0001t0003g0201 a0001c0001t0004g0189 a0001c0001t0007g0031 a0001c0001t0009g0043 a0001c0001t0013g0049 a0001c0003t0012g0144	28	258	0.1085	52	c.113 others(71): Show c.113-38509_113-38508insAGTCCCGGGCTGCCAGCCCCTCCCAC GGCCCCAGGCTGCCAGCCCCTCCCAC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TARS3_chr15_101648596_101729473	101661101	G G	GGATGCAC others(45): Show GGATGCACCACTCAAAAAGGACCACAAGATGCACCACTCAAAAAGGACCA CAA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	278	0.0036	52	c.207 others(69): Show c.2072+610_2072+611insTTGTGGTCCTTTTTGAGTGGTGCATCTT GTGGTCCTTTTTGAGTGGTGCATC	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	16/18			chr15	TogoVar
TASL_chrX_30553809_30582766	30571256	G G	GAAAGAGA others(45): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	318	0.0031	52	c.-2+ others(67): Show c.-2+5495_-2+5496insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTCTTT	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding	2/2			chrX	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGGAAAG others(45): Show AAGGAAAGAAAGAAGAAAGAAAGAAAGAAGAAAGAAAGAAGAAAGAAAGA AAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	410	0.0024	52	c.37 others(63): Show c.3715_*3716insCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTCTTT CTTTCTTCTTTCTTTCCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3577		chr10	TogoVar
TBC1D13_chr9_128782253_128815430	128808408	C C	CGTGTGTG others(45): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0166 a0001c0001t0166	a0001c0001t0166g0139 a0001c0001t0166g0139	1	398	0.0025	52	c.57 others(61): Show c.577_*578insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	TBC1D13	ENSG00000107021.16	transcript	ENST00000372648.10	protein_coding	12/12	578	INFO_REALIGN_3_PRIME	chr9	TogoVar
TBC1D16_chr17_79927343_80040872	79930055	C C	CCCTCCCC others(45): Show CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCTCCCCCCCT CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	334	0.0030	52	c.10 others(65): Show c.10803_*10804insAGGAGGGGGGGAGAGGGAGGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2287		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80024585	C C	CCACACAC others(45): Show CCACACACCATAGGCACACACACCACACACCATAGATACACACACCATAG ACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp1 others(45): Show HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03490.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp2 NA18942.hp2 NA18950.hp2 NA18974.hp2 NA18984.hp1 NA18989.hp1 NA19005.hp1 NA19055.hp2 NA19066.hp1 NA19074.hp1 NA19240.hp2 NA20300.hp1	a0001 a0004 a0007 others(3): Show a0001 a0004 a0007 a0011 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0004c0018 a0007c0030 a0011c0024 a0013c0023 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0037 a0001c0001t0048 a0001c0001t0073 a0001c0001t0079 a0001c0001t0080 a0001c0002t0052 a0001c0002t0110 a0001c0003t0001 a0001c0003t0004 a0001c0003t0030 a0001c0003t0035 a0001c0003t0049 a0001c0003t0056 a0001c0003t0065 a0001c0004t0001 a0001c0004t0005 a0001c0004t0010 a0001c0004t0021 a0001c0004t0071 a0001c0007t0012 a0001c0008t0134 a0004c0018t0007 a0007c0030t0092 a0011c0024t0001 a0013c0023t0112 a0015c0017t0018	a0001c0001t0001g0046 a0001c0001t0001g0142 a0001c0001t0001g0149 others(45): Show a0001c0001t0001g0046 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0271 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0005g0250 a0001c0001t0008g0294 a0001c0001t0011g0264 a0001c0001t0013g0116 a0001c0001t0013g0297 a0001c0001t0014g0225 a0001c0001t0014g0252 a0001c0001t0015g0232 a0001c0001t0016g0237 a0001c0001t0020g0148 a0001c0001t0037g0236 a0001c0001t0037g0269 a0001c0001t0048g0246 a0001c0001t0048g0295 a0001c0001t0073g0239 a0001c0001t0079g0265 a0001c0001t0080g0073 a0001c0002t0052g0270 a0001c0002t0110g0074 a0001c0003t0001g0244 a0001c0003t0004g0245 a0001c0003t0030g0243 a0001c0003t0035g0242 a0001c0003t0049g0233 a0001c0003t0056g0231 a0001c0003t0065g0234 a0001c0004t0001g0272 a0001c0004t0005g0247 a0001c0004t0010g0241 a0001c0004t0021g0235 a0001c0004t0071g0227 a0001c0007t0012g0311 a0001c0008t0134g0310 a0004c0018t0007g0325 a0007c0030t0092g0249 a0011c0024t0001g0226 a0013c0023t0112g0253 a0015c0017t0018g0141	48	334	0.1437	52	c.-62 others(71): Show c.-62-10977_-62-10976insTGTCTATGGTGTGTGTATCTATGGTG TGTGGTGTGTGTGCCTATGGTGTGTG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D19_chr4_26579084_26761223	26734934	G G	GTGTATAT others(45): Show GTGTATATATGTATACACATATGTATATGTATATATGTATACACATATGT ATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01981.hp1 NA18939.hp2 others(1): Show HG01261.hp2 HG01981.hp1 NA18939.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0163 a0001c0003t0001g0027	4	310	0.0129	52	c.108 others(69): Show c.1085-491_1085-440dupATATATGTATACACATATGTATATGTAT ATATGTATACACATATGTATATGT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr4	TogoVar

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