Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
TBATA_chr10_70766238_70790377	70767582	A A	AAAAGGAA others(6): Show AAAAGGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02622.hp2 others(4): Show HG01167.hp1 HG01169.hp2 HG02622.hp2 HG02818.hp2 HG03195.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0110 a0001c0002t0002g0005 a0001c0001t0001g0110 a0001c0002t0002g0005	7	395	0.0177	13	c.37 others(24): Show c.3793_*3794insCTTTCTTTCCTTT		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3655		chr10	TogoVar
TBC1D12_chr10_94397541_94541332	94531862	A A	ATGTTATT others(6): Show ATGTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02886.hp2 others(1): Show HG01884.hp2 HG02630.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 others(1): Show a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0020g0340	4	111	0.0360	13	c.225 others(30): Show c.2259+403_2259+404insGTTATTTTATTTT		TBC1D12	ENSG00000108239.9	transcript	ENST00000225235.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
TBC1D14_chr4_6904826_7038114	6933245	T T	TCCCCCTC others(6): Show TCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0034 a0001c0003t0002g0034	1	302	0.0033	13	c.722 others(30): Show c.722+9138_722+9139insCTCCCCCTCCCCC		TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D16_chr17_79927343_80040872	80037698	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0297 a0001c0001t0026g0297	1	275	0.0036	13	c.-19 others(24): Show c.-1979_-1967dupTATATATATATAT		TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding					1827		chr17	TogoVar
TBC1D19_chr4_26579084_26761223	26590796	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 NA18965.hp2 HG00733.hp2 HG01069.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0155 a0001c0005t0001g0104 a0001c0005t0001g0105 a0001c0001t0001g0155 a0001c0005t0001g0104 a0001c0005t0001g0105	3	37	0.0811	13	c.99+ others(28): Show c.99+6523_99+6535dupTTTTTTTTTTTTT		TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D1_chr4_37886084_38144173	37892794	A A	AGTTTGTC others(6): Show AGTTTGTCAAAAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00621.hp1 others(50): Show HG00408.hp2 HG00597.hp1 HG00621.hp1 HG01106.hp2 HG01175.hp1 HG01346.hp1 HG01928.hp2 HG02015.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02293.hp1 HG02735.hp1 HG02738.hp1 HG03831.hp1 HG03834.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19068.hp1 NA19074.hp2 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0013 a0027	a0001c0001 a0001c0005 a0001c0007 others(17): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0002c0002 a0002c0004 a0003c0006 a0003c0009 a0003c0020 a0003c0034 a0003c0055 a0004c0003 a0005c0010 a0005c0017 a0006c0015 a0008c0012 a0009c0011 a0010c0013 a0013c0031 a0027c0052	a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 others(28): Show a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0005t0012 a0001c0007t0014 a0001c0007t0016 a0001c0007t0017 a0001c0008t0003 a0001c0008t0013 a0001c0008t0021 a0002c0002t0017 a0002c0002t0033 a0002c0004t0007 a0002c0004t0012 a0003c0006t0013 a0003c0009t0007 a0003c0009t0012 a0003c0020t0012 a0003c0034t0007 a0003c0055t0013 a0004c0003t0001 a0004c0003t0007 a0004c0003t0024 a0005c0010t0017 a0005c0017t0002 a0006c0015t0016 a0008c0012t0012 a0009c0011t0010 a0010c0013t0014 a0013c0031t0001 a0027c0052t0021	a0001c0001t0016g0246 a0001c0001t0016g0295 a0001c0001t0016g0298 others(50): Show a0001c0001t0016g0246 a0001c0001t0016g0295 a0001c0001t0016g0298 a0001c0001t0017g0269 a0001c0001t0022g0245 a0001c0005t0012g0260 a0001c0007t0014g0268 a0001c0007t0016g0267 a0001c0007t0017g0271 a0001c0008t0003g0037 a0001c0008t0013g0256 a0001c0008t0013g0261 a0001c0008t0013g0263 a0001c0008t0021g0262 a0002c0002t0017g0266 a0002c0002t0017g0272 a0002c0002t0033g0270 a0002c0004t0007g0258 a0002c0004t0007g0259 a0002c0004t0007g0264 a0002c0004t0012g0297 a0003c0006t0013g0255 a0003c0006t0013g0274 a0003c0006t0013g0282 a0003c0009t0007g0257 a0003c0009t0007g0276 a0003c0009t0012g0279 a0003c0020t0012g0285 a0003c0034t0007g0283 a0003c0055t0013g0287 a0004c0003t0001g0035 a0004c0003t0007g0265 a0004c0003t0007g0281 a0004c0003t0007g0284 a0004c0003t0007g0289 a0004c0003t0024g0275 a0004c0003t0024g0288 a0005c0010t0017g0273 a0005c0010t0017g0296 a0005c0017t0002g0034 a0006c0015t0016g0253 a0008c0012t0012g0277 a0008c0012t0012g0278 a0008c0012t0012g0280 a0009c0011t0010g0254 a0010c0013t0014g0290 a0010c0013t0014g0291 a0010c0013t0014g0292 a0010c0013t0014g0293 a0010c0013t0014g0294 a0013c0031t0001g0033 a0013c0031t0001g0036 a0027c0052t0021g0286	53	308	0.1721	13	c.-94 others(30): Show c.-94+1457_-94+1458insGTGTTTGTCAAAA		TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D1_chr4_37886084_38144173	37945512	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0019 a0001c0021t0019	a0001c0021t0019g0251 a0001c0021t0019g0251	1	22	0.0455	13	c.417 others(32): Show c.417+43027_417+43039dupAAAAAAAAAAAAA		TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D1_chr4_37886084_38144173	38039104	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0018 a0003c0020t0018	a0003c0020t0018g0074 a0003c0020t0018g0074	1	31	0.0323	13	c.141 others(32): Show c.1413+3425_1413+3437dupTTTTTTTTTTTTT		TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D20_chr20_430480_467533	453153	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0302 a0001c0001t0026g0302	1	34	0.0294	13	c.71- others(28): Show c.71-5092_71-5080dupTTTTTTTTTTTTT		TBC1D20	ENSG00000125875.15	transcript	ENST00000354200.5	protein_coding	1/7						chr20	TogoVar
TBC1D20_chr20_430480_467533	466018	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01884.hp1 HG01884.hp2 others(8): Show HG01255.hp1 HG01884.hp1 HG01884.hp2 HG02165.hp2 HG02258.hp1 HG02723.hp2 HG03471.hp1 HG03688.hp2 HG03942.hp1 NA18975.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0257 a0001c0001t0004g0023 a0001c0001t0004g0079 others(7): Show a0001c0001t0001g0257 a0001c0001t0004g0023 a0001c0001t0004g0079 a0001c0001t0007g0026 a0001c0001t0007g0163 a0001c0001t0010g0250 a0001c0001t0010g0253 a0001c0001t0011g0213 a0002c0002t0001g0231 a0002c0002t0001g0237	11	340	0.0324	13	c.-36 others(24): Show c.-3614_-3613insTTTTTTTTTTTTT		TBC1D20	ENSG00000125875.15	transcript	ENST00000354200.5	protein_coding					3486		chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46941348	T T	TAGAATAT others(6): Show TAGAATATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00741.hp1 others(19): Show HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG02486.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02976.hp2 HG03130.hp1 HG03486.hp2 HG03516.hp2 HG04199.hp2 NA18522.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0002c0003t0003 a0002c0003t0008	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0074 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0002g0097 a0001c0001t0003g0031 a0001c0001t0003g0063 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0092 a0001c0001t0004g0101 a0001c0001t0007g0044 a0001c0001t0008g0048 a0001c0001t0010g0023 a0001c0001t0014g0006 a0001c0001t0015g0060 a0002c0003t0003g0028 a0002c0003t0008g0034	22	76	0.2895	13	c.101 others(34): Show c.1015+29187_1015+29199dupAGAATATATATAC		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46941664	G G	GCGGATTA others(6): Show GCGGATTATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(19): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG02027.hp1 HG02074.hp2 HG02109.hp2 HG02257.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG03239.hp1 HG04199.hp1 NA18980.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0004c0007t0001	a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 others(19): Show a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0002g0032 a0001c0001t0002g0099 a0001c0001t0003g0031 a0001c0001t0003g0063 a0001c0001t0003g0073 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0102 a0001c0001t0004g0070 a0001c0001t0011g0062 a0001c0001t0012g0054 a0001c0001t0013g0065 a0001c0001t0015g0060 a0004c0007t0001g0064	22	112	0.1964	13	c.101 others(34): Show c.1015+29480_1015+29481insTTATATATACGGA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46941691	C C	CGGAATAT others(6): Show CGGAATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG03098.hp2 others(2): Show HG02451.hp1 HG02886.hp1 HG03098.hp2 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0047 a0001c0001t0002g0014 a0001c0001t0005g0110 others(2): Show a0001c0001t0001g0047 a0001c0001t0002g0014 a0001c0001t0005g0110 a0001c0001t0005g0112 a0001c0001t0010g0106	5	90	0.0556	13	c.101 others(34): Show c.1015+29504_1015+29505insGAATATATATATG		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46941699	A A	ATATATAC others(6): Show ATATATACGGAATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02886.hp2 HG03486.hp2 others(1): Show HG00741.hp1 HG02886.hp2 HG03486.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0014 a0002c0003t0003 a0001c0001t0002 a0001c0001t0014 a0002c0003t0003	a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0014g0006 others(1): Show a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0014g0006 a0002c0003t0003g0028	4	85	0.0471	13	c.101 others(34): Show c.1015+29516_1015+29517insACGGAATGTATAT		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46941719	C C	CGGAATAT others(6): Show CGGAATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp1 HG02258.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0012 a0001c0001t0002g0016	2	52	0.0385	13	c.101 others(34): Show c.1015+29532_1015+29533insGAATATATATATG		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47039935	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	21	0.0476	13	c.132 others(32): Show c.1329+2752_1329+2764dupTTTTTTTTTTTTT		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47075222	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG06807.hp2 HG02451.hp1 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0014 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0014	3	40	0.0750	13	c.133 others(34): Show c.1330-36284_1330-36272dupAAAAAAAAAAAAA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47131356	A A	AGAAATGG others(6): Show AGAAATGGTGAACC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	112	0.0089	13	c.142 others(34): Show c.1425+19754_1425+19766dupGAAATGGTGAACC		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22B_chr6_37252772_37337970	37267311	T T	TATATATA others(6): Show TATATATATATAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02109.hp2 others(14): Show HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004	a0001c0004t0002g0045 a0001c0004t0002g0052 a0001c0004t0002g0053 others(14): Show a0001c0004t0002g0045 a0001c0004t0002g0052 a0001c0004t0002g0053 a0001c0004t0002g0054 a0001c0004t0002g0055 a0001c0004t0002g0056 a0001c0004t0002g0057 a0001c0004t0002g0058 a0001c0004t0002g0059 a0001c0004t0002g0060 a0001c0004t0002g0061 a0001c0004t0003g0046 a0001c0004t0003g0047 a0001c0004t0003g0048 a0001c0004t0003g0049 a0001c0004t0003g0050 a0001c0004t0004g0051	17	220	0.0773	13	c.57- others(28): Show c.57-2272_57-2271insAAATATATATATA		TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22B_chr6_37252772_37337970	37298539	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02965.hp2 others(1): Show HG02109.hp2 HG02559.hp2 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0052 a0001c0004t0002g0055 a0001c0004t0002g0059 others(1): Show a0001c0004t0002g0052 a0001c0004t0002g0055 a0001c0004t0002g0059 a0001c0004t0003g0048	4	44	0.0909	13	c.982 others(30): Show c.982+7194_982+7206dupTTTTTTTTTTTTT		TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D23_chr3_100255992_100330238	100309610	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02622.hp1 NA18522.hp2 HG00735.hp1 HG02622.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0170 a0001c0001t0001g0023 a0001c0001t0001g0170	3	154	0.0195	13	c.141 others(30): Show c.1414-786_1414-774dupTTTTTTTTTTTTT		TBC1D23	ENSG00000036054.13	transcript	ENST00000394144.9	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D24_chr16_2470127_2510730	2487644	T T	TTGGAGTT others(6): Show TTGGAGTTTGGTGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02895.hp2 others(3): Show HG01884.hp1 HG02258.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0041 a0001c0001t0004 a0001c0001t0041	a0001c0001t0004g0005 a0001c0001t0004g0145 a0001c0001t0004g0146 others(1): Show a0001c0001t0004g0005 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0041g0005	6	248	0.0242	13	c.-11 others(32): Show c.-115-8338_-115-8326dupCTGGAGTTTGGTG		TBC1D24	ENSG00000162065.14	transcript	ENST00000646147.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
TBC1D24_chr16_2470127_2510730	2504414	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG03516.hp1 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0008 a0001c0002t0015g0028 a0001c0002t0015g0008 a0001c0002t0015g0028	2	215	0.0093	13	c.34 others(24): Show c.3466_*3478dupTTTTTTTTTTTTT		TBC1D24	ENSG00000162065.14	transcript	ENST00000646147.1	protein_coding	8/8				3479	INFO_REALIGN_3_PRIME	chr16	TogoVar
TBC1D26_chr17_15727283_15749782	15743404	G G	GCGACTCT others(6): Show GCGACTCTCTCAGA	frameshift_variant frameshift_variant	HIGH	HG03491.hp1 HG03491.hp1	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0001 a0014c0011t0001	a0014c0011t0001g0057 a0014c0011t0001g0057	1	462	0.0022	13	c.945 others(20): Show c.945_946insCGACTCTCTCAGA	p.Phe others(5): Show p.Phe316fs	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding	14/15	1190/1841	946/1407	316/468			chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03579.hp2 HG02055.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0092 a0002c0002t0002g0020 a0002c0002t0002g0092	2	204	0.0098	13	c.31 others(24): Show c.3182_*3183insAAAAAAAAAAAAT		TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding					2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 NA18980.hp1 NA19002.hp2 HG01168.hp1 NA18980.hp1 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	3	205	0.0146	13	c.31 others(24): Show c.3182_*3183insAAAAAAAAAATAT		TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding					2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 NA18987.hp1 HG03669.hp2 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0093 a0002c0002t0002g0002 a0002c0002t0002g0093	2	204	0.0098	13	c.31 others(24): Show c.3182_*3183insAAAAAAAATATAT		TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding					2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAATATAT others(6): Show AAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA19043.hp2 NA18962.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0096 a0002c0002t0002g0101	2	204	0.0098	13	c.31 others(24): Show c.3182_*3183insAATATATATATAT		TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding					2993		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992776	C C	CCCCACTC others(6): Show CCCCACTCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	277	0.0036	13	c.53 others(24): Show c.5383_*5384insTGGGGGGAGTGGG		TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding					2208		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992779	C C	CACTCCCC others(6): Show CACTCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA18943.hp1 HG02135.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0004 a0001c0001t0037	a0001c0001t0004g0172 a0001c0001t0037g0154 a0001c0001t0004g0172 a0001c0001t0037g0154	2	250	0.0080	13	c.53 others(24): Show c.5380_*5381insAGTGGGGGGGAGT		TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding					2205		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992779	C C	CCACTCCC others(6): Show CCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0167 a0001c0001t0010g0167	1	249	0.0040	13	c.53 others(24): Show c.5380_*5381insAGTGGGGGGAGTG		TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding					2205		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992795	G G	GCCCCCCC others(6): Show GCCCCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	89	0.0112	13	c.53 others(24): Show c.5364_*5365insAGTGGGGGGGGGG		TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding					2189		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992856	C C	CCACTCCC others(6): Show CCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0002 a0001c0002t0009g0002	1	266	0.0038	13	c.53 others(24): Show c.5303_*5304insAGTGGGGGGAGTG		TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding					2128		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992866	C C	CCACTCCC others(6): Show CCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0024 a0001c0002t0013g0024	1	260	0.0038	13	c.52 others(24): Show c.5293_*5294insAGTGGGGGGAGTG		TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding					2118		chr15	TogoVar
TBC1D2_chr9_98194011_98260649	98232342	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0001 a0003c0034t0001	a0003c0034t0001g0050 a0003c0034t0001g0050	1	199	0.0050	13	c.781 others(30): Show c.781+1073_781+1074insAAAAAAAAAAAAA		TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	4/12						chr9	TogoVar
TBC1D30_chr12_64819647_64886033	64840004	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG02976.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0008 a0002c0003t0006 a0002c0002t0008 a0002c0003t0006	a0002c0002t0008g0170 a0002c0002t0008g0171 a0002c0003t0006g0172 a0002c0002t0008g0170 a0002c0002t0008g0171 a0002c0003t0006g0172	3	51	0.0588	13	c.932 others(30): Show c.932+1165_932+1177dupAAAAAAAAAAAAA		TBC1D30	ENSG00000111490.15	transcript	ENST00000539867.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D31_chr8_123067707_123157153	123092808	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	198	0.0051	13	c.520 others(28): Show c.520-774_520-762dupTTTTTTTTTTTTT		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	4/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
TBC1D32_chr6_121074494_121339480	121308686	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02886.hp2 others(1): Show HG02486.hp2 HG02572.hp1 HG02886.hp2 HG03453.hp2	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0003 a0010c0016 a0011c0023 a0001c0003 a0010c0016 a0011c0023	a0001c0003t0009 a0010c0016t0009 a0011c0023t0020 a0001c0003t0009 a0010c0016t0009 a0011c0023t0020	a0001c0003t0009g0208 a0001c0003t0009g0209 a0010c0016t0009g0210 others(1): Show a0001c0003t0009g0208 a0001c0003t0009g0209 a0010c0016t0009g0210 a0011c0023t0020g0283	4	53	0.0755	13	c.565 others(28): Show c.565-598_565-586dupAAAAAAAAAAAAA		TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	4/31						chr6	TogoVar
TBC1D3G_chr17_36318884_36339759	36330945	A A	ATCTCCCC others(6): Show ATCTCCCCATCCCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03942.hp2 HG02165.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0003 a0001c0015t0003 a0001c0001t0003 a0001c0015t0003	a0001c0001t0003g0077 a0001c0015t0003g0072 a0001c0001t0003g0077 a0001c0015t0003g0072	2	148	0.0135	13	c.668 others(28): Show c.668-335_668-323dupCTCCCCATCCCCT		TBC1D3G	ENSG00000260287.4	transcript	ENST00000569055.2	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D3H_chr17_36372531_36393435	36381348	C C	CAGGGGAT others(6): Show CAGGGGATGGGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01981.hp1 HG02040.hp2 others(7): Show HG00738.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02155.hp1 HG02258.hp1 NA18954.hp1 NA18997.hp2 NA19009.hp1 NA19064.hp2	a0003 a0004 a0014 a0003 a0004 a0014	a0003c0023 a0004c0004 a0004c0022 others(1): Show a0003c0023 a0004c0004 a0004c0022 a0014c0021	a0003c0023t0001 a0004c0004t0001 a0004c0022t0007 others(1): Show a0003c0023t0001 a0004c0004t0001 a0004c0022t0007 a0014c0021t0001	a0003c0023t0001g0105 a0004c0004t0001g0015 a0004c0004t0001g0016 others(4): Show a0003c0023t0001g0105 a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0001g0017 a0004c0004t0001g0023 a0004c0022t0007g0066 a0014c0021t0001g0067	10	156	0.0641	13	c.668 others(28): Show c.668-335_668-323dupCTCCCCATCCCCT		TBC1D3H	ENSG00000274226.6	transcript	ENST00000610350.4	protein_coding	9/13						chr17	TogoVar
TBC1D3I_chr17_36248639_36269570	36257437	C C	CAGGGGAT others(6): Show CAGGGGATGGGGAG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA19009.hp1 NA19010.hp1 NA18997.hp2 NA19009.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0009 a0003c0003t0001 a0003c0003t0009	a0003c0003t0001g0024 a0003c0003t0009g0099 a0003c0003t0001g0024 a0003c0003t0009g0099	3	182	0.0165	13	c.668 others(28): Show c.668-335_668-323dupCTCCCCATCCCCT		TBC1D3I	ENSG00000274933.6	transcript	ENST00000621034.2	protein_coding	9/13						chr17	TogoVar
TBC1D5_chr3_17152168_17747631	17544650	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG02896.hp2 others(5): Show HG01891.hp1 HG01934.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03225.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0003c0005t0001 a0001c0001t0001 a0001c0001t0003 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0003g0017 a0003c0005t0001g0011	8	129	0.0620	13	c.-35 others(32): Show c.-35-36058_-35-36046dupTTTTTTTTTTTTT		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	2/22						chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17591233	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA20752.hp1 HG00280.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0119 a0002c0002t0001g0120	2	48	0.0417	13	c.-36 others(32): Show c.-36+32603_-36+32615dupTTTTTTTTTTTTT		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	2/22						chr3	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02647.hp2 HG02683.hp2 others(4): Show HG01358.hp2 HG02647.hp2 HG02683.hp2 HG03490.hp2 HG03492.hp2 NA18969.hp1 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0010 a0001c0001 a0001c0003 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0003c0010t0001	a0001c0001t0001g0234 a0001c0001t0002g0145 a0001c0001t0003g0060 others(3): Show a0001c0001t0001g0234 a0001c0001t0002g0145 a0001c0001t0003g0060 a0001c0001t0003g0075 a0001c0003t0003g0086 a0003c0010t0001g0042	7	205	0.0341	13	c.520 others(30): Show c.520-2905_520-2893dupTTTTTTTTTTTTT		TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7						chr6	TogoVar
TBC1D8_chr2_101002228_101156382	101038657	T T	TATGCGTA others(6): Show TATGCGTAGGGAAC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19085.hp2 NA19085.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0175 a0018c0022t0001g0175	1	330	0.0030	13	c.108 others(26): Show c.1081-3_1081-2insGTTCCCTACGCAT		TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	6/19						chr2	TogoVar
TBC1D9B_chr5_179857071_179912897	179869734	A A	AGACCCTG others(6): Show AGACCCTGGCTGGG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0003 a0015c0018t0003	a0015c0018t0003g0213 a0015c0018t0003g0213	1	360	0.0028	13	c.279 others(28): Show c.2791+22_2791+34dupCCCAGCCAGGGTC		TBC1D9B	ENSG00000197226.13	transcript	ENST00000355235.8	protein_coding	17/20						chr5	TogoVar
TBC1D9_chr4_140615782_140761385	140641090	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	230	0.0043	13	c.233 others(32): Show c.2338-1675_2338-1663dupTTTTTTTTTTTTT		TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	13/20						chr4	TogoVar
TBCA_chr5_77686166_77781339	77779069	G G	GTAGCCGT others(6): Show GTAGCCGTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	352	0.0028	13	c.-28 others(24): Show c.-2825_-2813dupGAAAGAACGGCTA		TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding					2731		chr5	TogoVar
TBCB_chr19_36110468_36130941	36126727	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02523.hp1 HG03098.hp1 others(2): Show HG02080.hp1 HG02523.hp1 HG03098.hp1 NA19012.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0161	5	135	0.0370	13	c.94 others(22): Show c.945_*946insAAAAAAAAAAAAA		TBCB	ENSG00000105254.12	transcript	ENST00000221855.8	protein_coding					787		chr19	TogoVar
TBCB_chr19_36110468_36130941	36130458	C C	CCAATATA others(6): Show CCAATATAGTGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	446	0.0022	13	c.46 others(24): Show c.4676_*4677insCAATATAGTGAAA		TBCB	ENSG00000105254.12	transcript	ENST00000221855.8	protein_coding					4518		chr19	TogoVar

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