Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPTBN1_chr2_54451327_54676446	54522704	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0294 a0001c0001t0007g0294	1	365	0.0027	51	c.-47 others(68): Show c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTLC2_chr14_77500997_77621637	77531443	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTTCTCCTCCTCCTCC TC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03710.hp1 HG02738.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0047 a0001c0001t0012 a0001c0001t0047	a0001c0001t0012g0227 a0001c0001t0047g0231 a0001c0001t0012g0227 a0001c0001t0047g0231	2	219	0.0091	51	c.130 others(70): Show c.1304-9863_1304-9862insGAGGAGGAGGAGGAGAAGGAGGAGGA GAAGAAGAAGAAGAAGAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SRGAP2C_chr1_121179975_121397874	121396102	C C	CCCCCGCC others(44): Show CCCCCGCCGCTTTTTGCACCCCGCCGCTTTTTGCCCCCCGCCGCTTTTTG CA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	98	0.0102	51	c.82 others(62): Show c.8247_*8248insCCCCGCCGCTTTTTGCACCCCGCCGCTTTTTGCC CCCCGCCGCTTTTTGCA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3229		chr1	TogoVar
SRP54_chr14_34977992_35034567	35007572	A A	ATAAAATA others(44): Show ATAAAATATATTTATATTATAATAAAATATATTTACATAAAATATATTTT AT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00733.hp2 others(33): Show HG00140.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18941.hp2 NA18978.hp1 NA18990.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0002g0266 a0001c0001t0002g0267 others(31): Show a0001c0001t0001g0087 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0085	36	394	0.0914	51	c.360 others(66): Show c.360+229_360+279dupTATTTTATTAAAATATATTTATATTATAAT AAAATATATTTACATAAAATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35007616	T T	TATTTTAT others(44): Show TATTTTATTAAAATATATTTATATTATAATAAAATATATTTACATAAAAT AG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp1 HG03471.hp2 others(5): Show HG00408.hp2 HG01175.hp1 HG03471.hp2 HG04115.hp1 NA18612.hp2 NA18947.hp1 NA18981.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0172	8	380	0.0211	51	c.360 others(66): Show c.360+250_360+300dupTATTATAATAAAATATATTTACATAAAATA GATTTTATTAAAATATATTTA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062738	T T	TATATATA others(44): Show TATATATATAAAATATATATATATATATATAAAATATATATATATATATA AA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0311 a0001c0003t0001g0311	1	350	0.0029	51	c.562 others(68): Show c.562-1165_562-1164insTTTATATATATATATATATTTTATATAT ATATATATATATTTTATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATAATATATATATATT TT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	190	0.0053	51	c.138 others(68): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATAATATATATATATTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT TT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19082.hp1 HG00639.hp1 NA19082.hp1	a0002 a0005 a0002 a0005	a0002c0023 a0005c0018 a0002c0023 a0005c0018	a0002c0023t0002 a0005c0018t0001 a0002c0023t0002 a0005c0018t0001	a0002c0023t0002g0111 a0005c0018t0001g0323 a0002c0023t0002g0111 a0005c0018t0001g0323	2	191	0.0105	51	c.138 others(68): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAATTA others(44): Show AAAAATTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGTAAA GT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	14	0.0714	51	c.152 others(70): Show c.152-72296_152-72295insATTAAAGTAAAGTAAAGTAAAGTAAA GTAAAGTAAAGTAAAGTAAAGTAAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA1_chr12_22188391_22339707	22331911	C C	CAACCATT others(44): Show CAACCATTTTCTGGGTACACAATGTACCAGATACTTGGCATCAGTTTTTA TT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0004 a0001c0001t0027g0004	1	280	0.0036	51	c.236 others(68): Show c.236+2035_236+2085dupAATAAAAACTGATGCCAAGTATCTGGTA CATTGTGTACCCAGAAAATGGTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4			chr12	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	47	0.0213	51	c.132 others(70): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(44): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0245 a0003c0003t0003g0245	1	31	0.0323	51	c.210 others(68): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(44): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	31	0.0323	51	c.210 others(68): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0314 a0002c0002t0002g0314	1	192	0.0052	51	c.762 others(70): Show c.762+35592_762+35593insAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02015.hp1 HG01070.hp2 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0263 a0002c0002t0002g0217 a0002c0002t0002g0263	2	193	0.0104	51	c.762 others(70): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18968.hp2 NA18522.hp1 NA18968.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0066 a0003c0003t0002g0180 a0001c0001t0002g0066 a0003c0003t0002g0180	2	193	0.0104	51	c.762 others(70): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0327 a0002c0002t0001g0327	1	192	0.0052	51	c.762 others(70): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STK33_chr11_8386870_8599228	8557286	G G	GGAGGGGA others(44): Show GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAGAGGAGAG AA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG01261.hp1 others(14): Show HG00642.hp1 HG01123.hp2 HG01261.hp1 HG02258.hp1 HG02486.hp1 HG02717.hp2 HG03490.hp2 HG03540.hp1 HG03669.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA19003.hp1 NA19030.hp2 NA19085.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0006 a0001c0002 a0002c0003 a0004c0006	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0002c0003t0001 a0004c0006t0001	a0001c0002t0001g0180 a0001c0002t0001g0226 a0001c0002t0001g0246 others(14): Show a0001c0002t0001g0180 a0001c0002t0001g0226 a0001c0002t0001g0246 a0001c0002t0005g0171 a0001c0002t0005g0237 a0001c0002t0005g0317 a0001c0002t0007g0255 a0002c0003t0001g0216 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0285 a0004c0006t0001g0221 a0004c0006t0001g0222	17	140	0.1214	51	c.-46 others(72): Show c.-466+36796_-466+36797insTTCTCTCCTCTCCCTTCCCTTCCC TCCCCTCCCCTCCCCTCCCCTCCCCTC	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8557286	G G	GGAGGGGA others(44): Show GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAGAGGAGAG AA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG02055.hp1 others(2): Show HG00099.hp1 HG00323.hp1 HG02055.hp1 HG03831.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0166 a0001c0001t0010g0167 a0001c0001t0010g0169 others(2): Show a0001c0001t0010g0166 a0001c0001t0010g0167 a0001c0001t0010g0169 a0001c0001t0010g0319 a0001c0001t0010g0320	5	128	0.0391	51	c.-46 others(72): Show c.-466+36796_-466+36797insTTCTCTCCTCTCCCTTCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTC	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STON1_chr2_48525154_48603513	48567930	C C	CTATAGGG others(44): Show CTATAGGGAGTCTGAGAATTCCTTATTTGAAAAACAGCCAATGGAACCGC AT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(47): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01175.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG03486.hp1 HG03579.hp1 HG04199.hp2 NA18941.hp1 NA18941.hp2 NA18948.hp1 NA18962.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19058.hp2 NA19060.hp2 NA19068.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA20905.hp1	a0001 a0013 a0015 others(1): Show a0001 a0013 a0015 a0018	a0001c0001 a0001c0003 a0013c0015 others(2): Show a0001c0001 a0001c0003 a0013c0015 a0015c0017 a0018c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0003t0002 a0001c0003t0007 a0001c0003t0025 a0013c0015t0001 a0015c0017t0003 a0018c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0306 a0001c0001t0001g0331 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0026g0257 a0001c0003t0002g0046 a0001c0003t0002g0096 a0001c0003t0002g0103 a0001c0003t0002g0107 a0001c0003t0002g0109 a0001c0003t0002g0123 a0001c0003t0002g0142 a0001c0003t0002g0152 a0001c0003t0002g0176 a0001c0003t0007g0057 a0001c0003t0007g0063 a0001c0003t0007g0092 a0001c0003t0007g0113 a0001c0003t0007g0158 a0001c0003t0025g0110 a0013c0015t0001g0303 a0015c0017t0003g0106 a0018c0018t0001g0175	50	374	0.1337	51	c.-47 others(70): Show c.-47-12607_-47-12606insTTATAGGGAGTCTGAGAATTCCTTAT TTGAAAAACAGCCAATGGAACCGCA	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STPG4_chr2_47081991_47160308	47092551	A A	AGGGAGGG others(44): Show AGGGAGGGGAGGGAGAAGGGGAGGGGAGGGAGAAGGGGAGGGGAGGGAGA AG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp2 NA20129.hp2 HG02559.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0114 a0002c0002t0001g0273 a0002c0002t0001g0313 a0001c0001t0001g0114 a0002c0002t0001g0273 a0002c0002t0001g0313	3	340	0.0088	51	c.520 others(68): Show c.520-2228_520-2178dupCTTCTCCCTCCCCTCCCCTTCTCCCTCC CCTCCCCTTCTCCCTCCCCTCCC	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	5/6			chr2	TogoVar
STX8_chr17_9245471_9580820	9429998	A A	ATATTATA others(44): Show ATATTATATATAATATATAATATATAATATATATATTATATATTATATAT AT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	145	0.0069	51	c.542 others(70): Show c.542-51346_542-51345insATATATATAATATATAATATATATAT TATATATTATATATTATATATAATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108771594	C C	CATATAAA others(44): Show CATATAAATATATATGATATATATCTATATATATCATATATAAATATATA TG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG02818.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	252	0.0079	51	c.439 others(68): Show c.439-1066_439-1065insAATATATATGATATATATCTATATATAT CATATATAAATATATATGATATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STYX_chr14_52725166_52779989	52728360	G G	GGTCTGGA others(44): Show GGTCTGGACCCTCTTCCAGGAAAAATTCTAACATACAATTTTGCGTATAC TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	368	0.0027	51	c.-21 others(62): Show c.-2115_-2114insGTCTGGACCCTCTTCCAGGAAAAATTCTAACATA CAATTTTGCGTATACTA	STYX	ENSG00000198252.12	transcript	ENST00000354586.5	protein_coding		1805		chr14	TogoVar
SUCLG2_chr3_67369719_67659612	67444521	A A	ACCCCCCG others(44): Show ACCCCCCGCCCGGCCAGCCGCACCGTCCGGGAGGGAGGTGGGGGGGGGTC AG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	168	0.0060	51	c.106 others(72): Show c.1063-43671_1063-43670insCTGACCCCCCCCCACCTCCCTCCC GGACGGTGCGGCTGGCCGGGCGGGGGG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444521	A A	ACCCCCCG others(44): Show ACCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02040.hp2 HG02132.hp1 others(12): Show HG00621.hp1 HG02040.hp2 HG02132.hp1 HG02155.hp2 HG03225.hp2 NA18942.hp2 NA18945.hp1 NA18959.hp2 NA18962.hp1 NA18995.hp2 NA19000.hp1 NA19011.hp1 NA19062.hp1 NA19079.hp2 NA19081.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0004 a0003c0003t0005 a0010c0010t0001	a0001c0001t0001g0140 a0001c0001t0001g0238 a0001c0001t0001g0267 others(12): Show a0001c0001t0001g0140 a0001c0001t0001g0238 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0040 a0001c0001t0002g0172 a0001c0001t0002g0268 a0001c0001t0003g0173 a0001c0001t0006g0168 a0001c0001t0006g0171 a0002c0002t0004g0233 a0003c0003t0005g0170 a0010c0010t0001g0023	15	182	0.0824	51	c.106 others(72): Show c.1063-43671_1063-43670insCTGACCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SV2C_chr5_76078383_76338956	76172288	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp2 HG02615.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0012 a0001c0007t0007 a0001c0001t0012 a0001c0007t0007	a0001c0001t0012g0083 a0001c0007t0007g0078 a0001c0001t0012g0083 a0001c0007t0007g0078	2	83	0.0241	51	c.581 others(70): Show c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172420	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0096 a0001c0002t0096	a0001c0002t0096g0112 a0001c0002t0096g0112	1	99	0.0101	51	c.581 others(70): Show c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	120	0.0083	51	c.236 others(66): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYNCRIP_chr6_85608976_85647886	85631339	C C	CAAAAAAA others(44): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	181	0.0055	51	c.666 others(68): Show c.666+5627_666+5628insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	SYNCRIP	ENSG00000135316.20	transcript	ENST00000369622.8	protein_coding	6/10			chr6	TogoVar
SYNE2_chr14_63848004_64231433	64100531	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAATATATATATATATATAGATATATAGATATATAGATAT AT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG02300.hp1 HG00735.hp1 HG01167.hp1 HG02300.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0004 a0004c0003t0002 a0004c0003t0004	a0004c0003t0002g0045 a0004c0003t0002g0066 a0004c0003t0004g0050 a0004c0003t0002g0045 a0004c0003t0002g0066 a0004c0003t0004g0050	3	89	0.0337	51	c.123 others(72): Show c.12382-1400_12382-1399insAAAAAAAAAAATATATATATATAT ATAGATATATAGATATATAGATATATA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	63/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64100531	A A	AAAAAAAA others(44): Show AAAAAAAAAAATATATATATATATATATAGATATATAGATATATAGATAT AT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0052 a0004c0003t0003g0052	1	87	0.0115	51	c.123 others(72): Show c.12382-1400_12382-1399insAAAAAAAAATATATATATATATAT ATAGATATATAGATATATAGATATATA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	63/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0006 a0014c0013t0006	a0014c0013t0006g0025 a0014c0013t0006g0025	1	59	0.0169	51	c.-64 others(60): Show c.-645_-644insTATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYT1_chr12_78859774_79457008	79179456	A A	ATCTATAT others(44): Show ATCTATATATATATCCATATAGATATAGATATAGATATATCTATATAGAT AT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	18	0.0556	51	c.-17 others(70): Show c.-17-38047_-17-38046insTCTATATATATATCCATATAGATATA GATATAGATATATCTATATAGATAT	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10			chr12	TogoVar
SYTL3_chr6_158645054_158769871	158704932	G G	GTAAGGCC others(44): Show GTAAGGCCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGAGGGC TA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	290	0.0034	51	c.395 others(68): Show c.395-2271_395-2270insGGGGCAGGGTGACAGTGAGGGCTATAAG GCCACATAGGGCAGGAGGGACCC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158705069	G G	GGTGACAG others(44): Show GGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCAGGGACA GA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02738.hp1 HG03239.hp2 others(1): Show HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0152	4	290	0.0138	51	c.395 others(68): Show c.395-2146_395-2145insGTAAGGCCACATAGGGCAGGAGGGACCA GGGACAGAGTGACAGTGAGGGCT	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TACC3_chr4_1716521_1750171	1748304	G G	GAAAGAAG others(44): Show GAAAGAAGAGAGGAAGGGAAGAAGGAAAGAGGAAAAAGAAGGAGAAGAAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	342	0.0029	51	c.32 others(62): Show c.3291_*3292insAAAGAAGAGAGGAAGGGAAGAAGGAAAGAGGAAA AAGAAGGAGAAGAAAGA	TACC3	ENSG00000013810.21	transcript	ENST00000313288.9	protein_coding		3134		chr4	TogoVar
TACC3_chr4_1716521_1750171	1749267	A A	ACCCCCTC others(44): Show ACCCCCTCCCCAACACGCCCCCCTCCCCACTGCCCCCCCCTCCCCAAGGC AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0068 a0001c0006t0004g0068	1	331	0.0030	51	c.42 others(62): Show c.4254_*4255insCCCCCTCCCCAACACGCCCCCCTCCCCACTGCCC CCCCCTCCCCAAGGCAC	TACC3	ENSG00000013810.21	transcript	ENST00000313288.9	protein_coding		4097		chr4	TogoVar
TAFA1_chr3_67999247_68550621	68022844	A A	ATATATAA others(44): Show ATATATAATATATATATATAATATATATATATTATATATAATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0156 a0001c0001t0009g0156	1	153	0.0065	51	c.118 others(70): Show c.118+16106_118+16107insATATATATATATAATATATATATATT ATATATAATATATATATATTATATA	TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAL2_chr9_105657457_105668124	105658380	A A	AGTGCTTT others(44): Show AGTGCTTTTGATTTAATAAGTACTTCAGTCATTTTCCAGTGACCTCTACT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	166	0.0060	51	c.-41 others(62): Show c.-4117_-4116insGTGCTTTTGATTTAATAAGTACTTCAGTCATTTT CCAGTGACCTCTACTTT	TAL2	ENSG00000186051.7	transcript	ENST00000334077.6	protein_coding		4076		chr9	TogoVar
TBC1D16_chr17_79927343_80040872	80025561	G G	GCCTGCCT others(44): Show GCCTGCCTGCTGGGAGCACCCCCCTGCTGGGAGCACCCCCCTGCTGGGAG CA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0084 a0001c0004t0005g0084	1	331	0.0030	51	c.-63 others(70): Show c.-63+10233_-63+10234insTGCTCCCAGCAGGGGGGTGCTCCCAG CAGGGGGGTGCTCCCAGCAGGCAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80025565	G G	GCCTGCTG others(44): Show GCCTGCTGGGAGCACCCCCCTGCTGGGAGCAGCCGCCTGCTGGGAGCACC TC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	292	0.0034	51	c.-63 others(70): Show c.-63+10229_-63+10230insGAGGTGCTCCCAGCAGGCGGCTGCTC CCAGCAGGGGGGTGCTCCCAGCAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TC	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18945.hp2 NA18993.hp2 HG01993.hp2 NA18945.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0007g0029 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0007g0029	3	10	0.3000	51	c.481 others(68): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTC TC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01981.hp1 HG00738.hp2 HG01167.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0007 a0001c0001t0001g0084 a0001c0001t0001g0085	3	10	0.3000	51	c.481 others(68): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTTCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTC TC	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18962.hp2 HG02683.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0039 a0001c0001t0001g0055	2	9	0.2222	51	c.481 others(68): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTTCTTCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTC TC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	8	0.1250	51	c.481 others(68): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTCCTTCTCCTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D20_chr20_430480_467533	465960	C C	CCTGCAGT others(44): Show CCTGCAGTCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCC TG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	400	0.0025	51	c.-35 others(62): Show c.-3556_-3555insCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCA GGAGGCGGAGACTGCAG	TBC1D20	ENSG00000125875.15	transcript	ENST00000354200.5	protein_coding		3428		chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46858982	T T	TAGTGCCG others(44): Show TAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGC GC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 NA19240.hp2 HG00741.hp2 HG01261.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0003g0102 a0001c0001t0004g0020 a0001c0001t0010g0023 a0001c0001t0003g0102 a0001c0001t0004g0020 a0001c0001t0010g0023	3	79	0.0380	51	c.638 others(70): Show c.638-19666_638-19665insCGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46858982	T T	TAGTGCCG others(44): Show TAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGC GC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0112	1	77	0.0130	51	c.638 others(70): Show c.638-19666_638-19665insCGTGCCCCTTCCCGGGACCAGAATCC TTTTCGATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859070	G G	GATAGAGG others(44): Show GATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTT CC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0062 a0001c0001t0011g0062	1	96	0.0104	51	c.638 others(70): Show c.638-19563_638-19513dupTGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar

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