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
SPDYE1_chr7_43992897_44015124	44007387	ACCGTTCC others(68): Show ACCGTTCCATGAACCCGAGGGCCAGGAAGAACCGCTCTCACATACCCTTG GTCCGTAAGCGTCGGTTCCAGTTACG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19067.hp1 NA19067.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0002 a0011c0013t0002	a0011c0013t0002g0001 a0011c0013t0002g0001	1	394	0.0025	-75	c.878 others(82): Show c.878_952delCCATGAACCCGAGGGCCAGGAAGAACCGCTCTCACATA CCCTTGGTCCGTAAGCGTCGGTTCCAGTTACGCCGTT	p.Ser others(13): Show p.Ser293_Arg317del	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding	7/9	1363/3119	878/1131	293/376		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67286150	TGGTTCCA others(68): Show TGGTTCCAGTTAGGCCGTTCCATGAACCCGAGGGCCAGGAAGAACCGCTC TCGCATACCCTTGCTCCGTAAGCGTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18943.hp1 NA18949.hp1 NA18988.hp2 others(3): Show NA18943.hp1 NA18949.hp1 NA18988.hp2 NA19000.hp2 NA19079.hp2 NA19089.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0020 a0002c0010t0001 a0002c0010t0020	a0002c0010t0001g0003 a0002c0010t0001g0012 a0002c0010t0001g0037 others(2): Show a0002c0010t0001g0003 a0002c0010t0001g0012 a0002c0010t0001g0037 a0002c0010t0001g0038 a0002c0010t0020g0003	6	460	0.0130	-75	c.904 others(82): Show c.904_978delAACCGCTCTCGCATACCCTTGCTCCGTAAGCGTCGGTT CCAGTTAGGCCGTTCCATGAACCCGAGGGCCAGGAAG	p.Asn others(13): Show p.Asn302_Lys326del	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	7/9	1448/3286	904/1209	302/402		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPHKAP_chr2_227974955_228186687	228092432	TATATATG others(68): Show TATATATGTGCCATATATATGTATACATATATGTGCCATATATATGTATA CATATATGTGCCATATATATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00609.hp1 others(85): Show HG00099.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18974.hp1 NA18978.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0013 a0015 a0021	a0001c0001 a0002c0002 a0003c0005 others(9): Show a0001c0001 a0002c0002 a0003c0005 a0003c0006 a0003c0024 a0004c0004 a0005c0003 a0006c0007 a0007c0008 a0013c0026 a0015c0029 a0021c0031	a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 others(13): Show a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 a0002c0002t0013 a0003c0005t0001 a0003c0005t0006 a0003c0005t0007 a0003c0006t0001 a0003c0024t0001 a0004c0004t0003 a0005c0003t0001 a0006c0007t0001 a0007c0008t0008 a0013c0026t0007 a0015c0029t0002 a0021c0031t0015	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(85): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0058 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0319 a0001c0001t0008g0112 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0220 a0002c0002t0013g0145 a0003c0005t0001g0232 a0003c0005t0001g0286 a0003c0005t0001g0294 a0003c0005t0006g0115 a0003c0005t0006g0116 a0003c0005t0006g0121 a0003c0005t0006g0122 a0003c0005t0007g0049 a0003c0005t0007g0140 a0003c0005t0007g0144 a0003c0005t0007g0174 a0003c0005t0007g0177 a0003c0006t0001g0061 a0003c0006t0001g0098 a0003c0006t0001g0099 a0003c0024t0001g0288 a0004c0004t0003g0052 a0005c0003t0001g0046 a0005c0003t0001g0171 a0005c0003t0001g0208 a0005c0003t0001g0295 a0006c0007t0001g0027 a0007c0008t0008g0088 a0007c0008t0008g0096 a0007c0008t0008g0320 a0013c0026t0007g0187 a0015c0029t0002g0257 a0021c0031t0015g0266	88	322	0.2733	-75	c.246 others(94): Show c.246+16325_246+16399delGTATACATATATATGGCACATATATG TATACATATATATGGCACATATATGTATACATATATATGGCACATATAT		SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11						chr2	TogoVar
SPIB_chr19_50413938_50436314	50435021	GGTCTGAG others(68): Show GGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGGGGTCTGGACTCCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG03516.hp2 HG03579.hp1 HG00735.hp2 HG03516.hp2 HG03579.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0020 a0002c0001t0016 a0002c0001t0020	a0002c0001t0016g0115 a0002c0001t0016g0116 a0002c0001t0020g0114 a0002c0001t0016g0115 a0002c0001t0016g0116 a0002c0001t0020g0114	3	388	0.0077	-75	c.66 others(86): Show c.6686_*6760delGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTGC		SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding					3708		chr19	TogoVar
STARD8_chrX_68642666_68730836	68715033	TCTTGGGC others(68): Show TCTTGGGCCTGCTATCTCCCATGGACCTGCCTTACTGACTGACAGAGTTC TTTGGGTCCAGCTCAGCCCTCTAGGC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(2): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02451.hp1 HG02717.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0007c0011 a0013c0021 a0001c0001 a0007c0011 a0013c0021	a0001c0001t0001 a0007c0011t0001 a0013c0021t0031 a0001c0001t0001 a0007c0011t0001 a0013c0021t0031	a0001c0001t0001g0034 a0001c0001t0001g0035 a0007c0011t0001g0169 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0007c0011t0001g0169 a0007c0011t0001g0170 a0013c0021t0031g0014	5	199	0.0251	-75	c.152 others(90): Show c.152-258_152-184delTGGGCCTGCTATCTCCCATGGACCTGCCTT ACTGACTGACAGAGTTCTTTGGGTCCAGCTCAGCCCTCTAGGCCT		STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
STK32B_chr4_5046480_5505989	5316388	AATATATT others(68): Show AATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG00741.hp1 others(26): Show HG00408.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02155.hp1 HG02155.hp2 HG03491.hp2 HG03831.hp1 HG06807.hp1 NA18612.hp1 NA18944.hp1 NA18952.hp1 NA19011.hp1 NA19012.hp1 NA19065.hp2 NA19081.hp1 NA19088.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0011 a0001c0001 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0013 a0005c0011t0001	a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0056 others(26): Show a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0003g0024 a0001c0001t0003g0089 a0001c0001t0003g0153 a0001c0001t0004g0052 a0002c0002t0001g0001 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0087 a0002c0002t0002g0048 a0002c0002t0002g0156 a0002c0002t0004g0009 a0002c0002t0004g0090 a0002c0002t0004g0102 a0002c0002t0013g0023 a0005c0011t0001g0045	29	170	0.1706	-75	c.261 others(94): Show c.261-14683_261-14609delATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATA		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5316537	ATATATAT others(68): Show ATATATATTACATATATAATATATAATATATATTACATATATAATATATA ATATATATTACATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02055.hp1 HG02647.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0008 a0001c0003 a0003c0008	a0001c0003t0002 a0003c0008t0006 a0001c0003t0002 a0003c0008t0006	a0001c0003t0002g0108 a0003c0008t0006g0135 a0001c0003t0002g0108 a0003c0008t0006g0135	2	170	0.0118	-75	c.261 others(94): Show c.261-14673_261-14599delCATATATAATATATAATATATATTAC ATATATAATATATAATATATATTACATATATAATATATATTATATATTA		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5316586	AATATATA others(68): Show AATATATATTACATATATAATATATATTATATATTATATATATAATATAT AATATATTATATATATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	170	0.0059	-75	c.261 others(94): Show c.261-14627_261-14553delATTACATATATAATATATATTATATA TTATATATATAATATATAATATATTATATATATAATATATAATATATAT		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK3_chr8_98449633_98830688	98825800	CCCGCCCC others(68): Show CCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGC CCCCGGCCGCCCCGCCCCGCCCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	170	0.0059	-75	c.-33 others(84): Show c.-335_-261delCCGGGGGCGGGGCGGGGCGGCCGGGGGCGGGGCGGG GCGGCCGGGGGCGGGGCGGGGCGGCCGGGGGCGGGGCGG		STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding					113		chr8	TogoVar
STON1_chr2_48525154_48603513	48564477	TTCTTTCT others(68): Show TTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA20805.hp1 HG03942.hp2 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0318 a0003c0004t0004g0327 a0003c0004t0004g0318 a0003c0004t0004g0327	2	376	0.0053	-75	c.-47 others(94): Show c.-47-16108_-47-16034delCTTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564533	TCTTCTTC others(68): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCC TCCTCCTCCTCCTCCTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0362 a0002c0002t0002g0362	1	376	0.0027	-75	c.-47 others(94): Show c.-47-16048_-47-15974delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
SYT9_chr11_7246904_7474043	7432559	AAAAAAAA others(68): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATACATATATATATATATAT ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00558.hp2 others(85): Show HG00099.hp1 HG00280.hp2 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03490.hp2 HG03516.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp2 NA18955.hp1 NA18964.hp2 NA18969.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19077.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0004 a0002c0007 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0017 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0006t0007 a0001c0006t0009 a0001c0009t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0021 a0002c0007t0003 a0002c0007t0004 a0003c0005t0001 a0003c0005t0006	a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0132 others(84): Show a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0183 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0077 a0001c0001t0002g0095 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0154 a0001c0001t0002g0162 a0001c0001t0002g0229 a0001c0001t0002g0266 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0089 a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0003g0117 a0001c0001t0003g0161 a0001c0001t0003g0171 a0001c0001t0003g0178 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0224 a0001c0001t0003g0245 a0001c0001t0004g0011 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0096 a0001c0001t0004g0126 a0001c0001t0004g0139 a0001c0001t0004g0153 a0001c0001t0004g0159 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0005g0002 a0001c0001t0005g0017 a0001c0001t0005g0040 a0001c0001t0005g0045 a0001c0001t0005g0070 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0122 a0001c0001t0006g0177 a0001c0001t0007g0145 a0001c0001t0019g0176 a0001c0001t0020g0182 a0001c0001t0022g0261 a0001c0002t0001g0051 a0001c0002t0002g0050 a0001c0002t0003g0044 a0001c0002t0004g0004 a0001c0002t0011g0157 a0001c0002t0017g0158 a0001c0003t0002g0253 a0001c0003t0004g0252 a0001c0003t0004g0255 a0001c0003t0005g0216 a0001c0003t0005g0230 a0001c0006t0007g0202 a0001c0006t0009g0206 a0001c0009t0001g0199 a0002c0004t0003g0038 a0002c0004t0004g0033 a0002c0004t0005g0009 a0002c0004t0005g0032 a0002c0004t0005g0036 a0002c0004t0005g0135 a0002c0004t0021g0037 a0002c0007t0003g0025 a0002c0007t0004g0008 a0002c0007t0004g0030 a0003c0005t0001g0262 a0003c0005t0006g0099	88	272	0.3235	-75	c.146 others(96): Show c.1467+11926_1467+12000delAAAAAAAAAAAAAAAAAAAAAAAT ATATATACATATATATATATATATATATATATATATATATATATATATAT A		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
TAF4_chr20_61969798_62070881	62058620	CGGGGGGC others(68): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19007.hp1 HG02809.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0027 a0002c0006 a0001c0027 a0002c0006	a0001c0027t0001 a0002c0006t0001 a0001c0027t0001 a0002c0006t0001	a0001c0027t0001g0203 a0002c0006t0001g0297 a0001c0027t0001g0203 a0002c0006t0001g0297	2	314	0.0064	-75	c.136 others(94): Show c.1360+5756_1360+5830delCGAGCCCCATTGTCTGTGGCCTGGTG TGTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
TBL1X_chrX_9460058_9724740	9703210	GGGGAAGG others(68): Show GGGGAAGGGAAGAGATCACCAGAGAAGGGAAGGGAAGAGATCACCAGAGA AGGGAAGGGAAGAGATCACCAGAGAA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0069 a0001c0002t0035g0069	1	199	0.0050	-75	c.111 others(94): Show c.1115-1731_1115-1657delGGAAGGGAAGAGATCACCAGAGAAGG GAAGGGAAGAGATCACCAGAGAAGGGAAGGGAAGAGATCACCAGAGAAG		TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	12/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
TBXAS1_chr7_139824264_140025293	139865590	GGAGGAGG others(68): Show GGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGG AGGAGGAGGAAGAGGAGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	270	0.0037	-75	c.90- others(90): Show c.90-6600_90-6526delAGAGGAGGAGGAGGAAGAGGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGGAGGAGGAGGA		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCHH_chr1_152101317_152120444	152112037	GCTGCTCG others(68): Show GCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTC AGCTGCTGCTCGCGCCTCTCCTCCTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02074.hp1 HG02074.hp1	a0131 a0131	a0131c0086 a0131c0086	a0131c0086t0002 a0131c0086t0002	a0131c0086t0002g0103 a0131c0086t0002g0103	1	402	0.0025	-75	c.110 others(84): Show c.1105_1179delGAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAG CAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAG	p.Glu others(13): Show p.Glu369_Gln393del	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1264/6985	1105/5832	369/1943			chr1	TogoVar
TENM1_chrX_124370903_125209312	124471276	ATATAATA others(68): Show ATATAATATATAGTACTATATATTATAATATATAGTACTATATATTATAA TATATAGTACTATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18989.hp1 HG02015.hp1 NA18989.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0024 a0001c0001 a0008c0024	a0001c0001t0001 a0008c0024t0001 a0001c0001t0001 a0008c0024t0001	a0001c0001t0001g0034 a0008c0024t0001g0124 a0001c0001t0001g0034 a0008c0024t0001g0124	2	140	0.0143	-75	c.394 others(96): Show c.3949+10381_3949+10455delATATATATTATATATAGTACTATA TATTATAATATATAGTACTATATATTATAATATATAGTACTATATATTAT A		TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	25/34						chrX	TogoVar
TERT_chr5_1248167_1300068	1272882	ACAGTCAC others(68): Show ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCTGTGACCGATCGCCATC	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0345 a0001c0016t0001g0345	1	392	0.0026	-75	c.228 others(92): Show c.2287-677_2287-603delGATGGCGATCGGTCACAGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272946	CCGATCGC others(68): Show CCGATCGCCATCCAGTCACCACACATCAGACCCCCGGGACCAACCGCCAT CCACAGTCACCACACATCAGACCCCA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0192 a0001c0003t0001g0193	2	392	0.0051	-75	c.228 others(92): Show c.2287-741_2287-667delTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGACTGGATGGCGATCG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273570	GACCGCCA others(68): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCCGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02273.hp1 HG02257.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0001 a0001c0001t0001 a0001c0025t0001	a0001c0001t0001g0152 a0001c0025t0001g0385 a0001c0001t0001g0152 a0001c0025t0001g0385	2	392	0.0051	-75	c.228 others(94): Show c.2287-1365_2287-1291delTGGTCCCGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273715	GACCGCCA others(68): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCTGTGACCA	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0386 a0001c0026t0001g0386	1	392	0.0026	-75	c.228 others(94): Show c.2287-1510_2287-1436delTGGTCACAGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1276321	GAAAACCA others(68): Show GAAAACCAATCCCACAGATCCCCACCTACCCCACGGATGAAAACCAATTC ACAGATCCCCACCTACCCCACGCATA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18998.hp1 NA18951.hp2 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0026 a0001c0002t0001g0027	2	392	0.0051	-75	c.228 others(94): Show c.2286+2245_2286+2319delTATGCGTGGGGTAGGTGGGGATCTGT GAATTGGTTTTCATCCGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1276392	GCATAAAA others(68): Show GCATAAAAACCAATCCCACAGATCCCCACCTACCCCACGGATGAAAACCA ATTCACATATCCCCACCTACCCCACA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	392	0.0026	-75	c.228 others(94): Show c.2286+2174_2286+2248delTGTGGGGTAGGTGGGGATATGTGAAT TGGTTTTCATCCGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTTATG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TFAM_chr10_58380410_58404220	58402060	AATTCCTT others(68): Show AATTCCTTCAATTTGATCATTTCTCTACCTAGACCTATAGATTTCTGGTC CCTCTAGGTTATTGTATCCAGGGCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	434	0.0023	-75	c.69 others(86): Show c.6987_*7061delATTCCTTCAATTTGATCATTTCTCTACCTAGACC TATAGATTTCTGGTCCCTCTAGGTTATTGTATCCAGGGCTC		TFAM	ENSG00000108064.11	transcript	ENST00000487519.6	protein_coding					2841		chr10	TogoVar
THBS2_chr6_169210785_169258846	169235965	CCCCCATC others(68): Show CCCCCATCCACACTCACTCCCCCATCCACACTCTCCCTCCACCATCCACA CTCTCCCTCCCCCATCCACACTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0001 a0013c0032t0001	a0013c0032t0001g0116 a0013c0032t0001g0116	1	396	0.0025	-75	c.147 others(94): Show c.1477+1130_1478-1059delAGGGAGTGTGGATGGGGGAGGGAGAG TGTGGATGGTGGAGGGAGAGTGTGGATGGGGGAGTGAGTGTGGATGGGG		THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	9/21						chr6	TogoVar
THSD7B_chr2_136760545_137682718	137546393	TATTATAT others(68): Show TATTATATATATTATATATATATTATATATATTATATATATATTATATAT ATTATATATATATTATATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0016 a0001c0019t0016	a0001c0019t0016g0090 a0001c0019t0016g0090	1	98	0.0102	-75	c.313 others(96): Show c.3139-16827_3139-16753delATTATATATATTATATATATATTA TATATATTATATATATATTATATATATTATATATATATTATATATAATAT A		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27						chr2	TogoVar
TMC1_chr9_72516608_72843297	72725300	CCACACAC others(68): Show CCACACACACATTTTATGTGTGTATGTATATATATATATATATATATATA TATATATATATATATATATGTATATA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	182	0.0055	-75	c.363 others(94): Show c.363-14807_363-14733delTTTATGTGTGTATGTATATATATATA TATATATATATATATATATATATATATATATGTATATACACACACACAT		TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr9	TogoVar
TMC4_chr19_54155108_54178160	54172196	GCCCCCGG others(68): Show GCCCCCGGCTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTCCT CCTCCCTCAGACCCAGGAGTCCAGGC	G G	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0075 a0003c0009t0001g0075	1	407	0.0025	-75	c.80- others(88): Show c.80-188_80-114delGCCTGGACTCCTGGGTCTGAGGGAGGAGGAGC CGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGAGCCGGGGG		TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	1/14						chr19	TogoVar
TMCC1_chr3_129642792_129898711	129818401	TAAGAAAC others(68): Show TAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03017.hp2 HG03540.hp1 others(4): Show HG01358.hp1 HG03017.hp2 HG03540.hp1 HG03704.hp2 NA19065.hp1 NA19082.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0005 a0001c0001t0001 a0001c0001t0008 a0001c0002t0005	a0001c0001t0001g0049 a0001c0001t0001g0081 a0001c0001t0001g0104 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0008g0154 a0001c0002t0005g0181 a0001c0002t0005g0182 a0001c0002t0005g0185	7	258	0.0271	-75	c.576 others(92): Show c.576+9327_576+9401delTAAAACTTTTCTTTAAAAGTTTCTTTAA AACTTTTCTTTAAAAGTTTCTTTAAAACTTTTCTTTAAAAGTTTCTT		TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6						chr3	TogoVar
TMCO3_chr13_113486021_113555229	113512045	AGTGTAGA others(68): Show AGTGTAGATGGAGAGGGTCAGTATATATATATACTTGGAGTCTCAGGGGC CGGGACTGGAGAGGGAGAGGGTTGGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(74): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG02109.hp2 HG02132.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18940.hp1 NA18946.hp2 NA18947.hp2 NA18953.hp1 NA18955.hp1 NA18966.hp1 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19060.hp1 NA19064.hp1 NA19075.hp2 NA19080.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp1	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0010	a0003c0002 a0003c0016 a0003c0023 others(3): Show a0003c0002 a0003c0016 a0003c0023 a0005c0010 a0007c0021 a0010c0015	a0003c0002t0002 a0003c0016t0002 a0003c0023t0002 others(3): Show a0003c0002t0002 a0003c0016t0002 a0003c0023t0002 a0005c0010t0002 a0007c0021t0002 a0010c0015t0002	a0003c0002t0002g0006 a0003c0002t0002g0008 a0003c0002t0002g0009 others(69): Show a0003c0002t0002g0006 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0022 a0003c0002t0002g0024 a0003c0002t0002g0025 a0003c0002t0002g0026 a0003c0002t0002g0027 a0003c0002t0002g0028 a0003c0002t0002g0029 a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0032 a0003c0002t0002g0033 a0003c0002t0002g0034 a0003c0002t0002g0035 a0003c0002t0002g0036 a0003c0002t0002g0037 a0003c0002t0002g0038 a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0042 a0003c0002t0002g0043 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0046 a0003c0002t0002g0047 a0003c0002t0002g0048 a0003c0002t0002g0049 a0003c0002t0002g0051 a0003c0002t0002g0052 a0003c0002t0002g0055 a0003c0002t0002g0056 a0003c0002t0002g0057 a0003c0002t0002g0058 a0003c0002t0002g0059 a0003c0002t0002g0060 a0003c0002t0002g0061 a0003c0002t0002g0062 a0003c0002t0002g0063 a0003c0002t0002g0064 a0003c0002t0002g0065 a0003c0002t0002g0066 a0003c0002t0002g0067 a0003c0002t0002g0068 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0072 a0003c0002t0002g0073 a0003c0002t0002g0074 a0003c0002t0002g0076 a0003c0002t0002g0077 a0003c0002t0002g0078 a0003c0002t0002g0079 a0003c0002t0002g0080 a0003c0002t0002g0081 a0003c0002t0002g0082 a0003c0002t0002g0083 a0003c0002t0002g0084 a0003c0002t0002g0085 a0003c0002t0002g0086 a0003c0002t0002g0087 a0003c0002t0002g0301 a0003c0002t0002g0302 a0003c0016t0002g0075 a0003c0023t0002g0023 a0005c0010t0002g0050 a0005c0010t0002g0053 a0007c0021t0002g0054 a0010c0015t0002g0071	77	368	0.2092	-75	c.122 others(94): Show c.1225+1650_1225+1724delTATACTTGGAGTCTCAGGGGCCGGGA CTGGAGAGGGAGAGGGTTGGTGTGTAGATGGAGAGGGTCAGTATATATA		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120A_chr7_75981831_75999595	75988855	GGTGTGGA others(68): Show GGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGG TGTGTGGAGGGGAAGGCCGGGTGGGT	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	368	0.0027	-75	c.377 others(90): Show c.377+235_377+309delACCCACCCGGCCTTCCCCTCCACACACCCA CCCGGCCTTCCCCTCCACACACCCACCCGGCCTTCCCCTCCACAC		TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11						chr7	TogoVar
TMEM128_chr4_4230542_4253223	4252212	CACAATAA others(68): Show CACAATAAAATGTGTGCCTATTTCTACACAGCTGTGATTATTCCCCTGGT AAAAGCTATAGCATTGGAATCCCTAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0071 a0001c0003t0002g0071	1	460	0.0022	-75	c.-40 others(86): Show c.-4085_-4011delCTAGGGATTCCAATGCTATAGCTTTTACCAGGGG AATAATCACAGCTGTGTAGAAATAGGCACACATTTTATTGT		TMEM128	ENSG00000132406.12	transcript	ENST00000382753.5	protein_coding					3990		chr4	TogoVar
TMEM144_chr4_158205486_158260416	158257012	TTATATAT others(68): Show TTATATATAGTATTATATATATTATATATAGTATTATATATTATATATAG TATTATATATATTATATATAGTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0147 a0001c0001t0023g0147	1	274	0.0037	-75	c.34 others(86): Show c.3486_*3560delTATATATAGTATTATATATATTATATATAGTATT ATATATTATATATAGTATTATATATATTATATATAGTATTA		TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding					1597		chr4	TogoVar
TMEM14A_chr6_52666113_52691588	52682096	TACCAGGC others(68): Show TACCAGGCCTTCCAACTCAGAAGAATATTTCTATAAAAACTCGTTACTAG AAAAATTGAATTAGGAAAAGCAAGGA	T T	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	426	0.0024	-75	c.172 others(90): Show c.172+184_172+258delCCAGGCCTTCCAACTCAGAAGAATATTTCT ATAAAAACTCGTTACTAGAAAAATTGAATTAGGAAAAGCAAGGAA		TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM255A_chrX_120253650_120316461	120297008	ATATTATA others(68): Show ATATTATATATATTATATATATATAATATATAATATATAATATAATATAT ATAATATTATATATATTATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00544.hp1 others(53): Show HG00099.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00733.hp2 HG01175.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18939.hp2 NA18946.hp2 NA18951.hp2 NA18957.hp1 NA18984.hp1 NA18987.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19066.hp1 NA19077.hp2 NA19083.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(52): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0218 a0001c0001t0003g0087 a0001c0001t0004g0008 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0008g0146 a0001c0001t0012g0217 a0001c0001t0016g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0112 a0001c0002t0001g0171 a0001c0002t0003g0010	56	303	0.1848	-75	c.202 others(92): Show c.202-3032_202-2958delATATAATATAATATATATAATATTATAT ATATTATATTATATATTATATATTATATATATATAATATATATAATA		TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8						chrX	TogoVar
TMEM63C_chr14_77176798_77264495	77236307	TGGGGGTA others(68): Show TGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGCAGACTGTGGTG GGTGGGGGGTATGGGCAGACTGGTGG	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18972.hp2 NA18980.hp1 others(2): Show NA18957.hp2 NA18972.hp2 NA18980.hp1 NA19079.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129	5	322	0.0155	-75	c.543 others(90): Show c.543-292_543-218delGTGGGGGTATGGGCAGACTGTGGTGGGTGG GGGGTATGGGCAGACTGGTGGGGGGGTATGGGGAGACTGTGATGG		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
TMPRSS2_chr21_41459305_41513158	41474649	GGGGTGAG others(68): Show GGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTG AGGAGGTGAGGGGGTGAGTGAGGAGA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18995.hp2 NA18952.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0023 a0001c0001t0001g0024	2	382	0.0052	-75	c.728 others(92): Show c.728-1228_728-1154delTCTCCTCACTCACCCCCTCACCTCCTCA CTCACCCGCTCACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TPD52L1_chr6_125148773_125269407	125168316	CAGTAACC others(68): Show CAGTAACCTCTCCCCTCAGATGATTCCCTGAGACCCACCACAGGGATATC TTCTCTTCTTAGTACCCTCTTCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	320	0.0031	-75	c.19+ others(92): Show c.19+14351_19+14425delACCTCTCCCCTCAGATGATTCCCTGAGA CCCACCACAGGGATATCTTCTCTTCTTAGTACCCTCTTCTCTGAGTA		TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125172081	TCTTTCTT others(68): Show TCTTTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0100 a0001c0001t0010g0100	1	320	0.0031	-75	c.19+ others(92): Show c.19+18112_19+18186delCTTTCTTTCTTTCTTTCCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6						chr6	TogoVar
TRARG1_chr17_1274662_1305978	1286375	GTGTTATC others(68): Show GTGTTATCGGCCTGTGGGGTGTTATCGGCCTGCGGGTTGTTATCAGCCTG TGGGGTGTTGTTGTCGGCCTGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp1 HG02257.hp1 others(17): Show HG00741.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp2 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0041 a0003c0003t0024 a0003c0003t0026 a0003c0003t0033 a0003c0003t0034	a0001c0001t0001g0290 a0001c0001t0004g0253 a0001c0001t0004g0280 others(16): Show a0001c0001t0001g0290 a0001c0001t0004g0253 a0001c0001t0004g0280 a0001c0001t0008g0046 a0001c0001t0008g0282 a0001c0001t0008g0284 a0001c0001t0008g0286 a0001c0001t0008g0291 a0001c0001t0008g0295 a0001c0001t0023g0287 a0001c0001t0027g0281 a0001c0001t0027g0283 a0001c0001t0028g0307 a0001c0001t0041g0285 a0003c0003t0024g0301 a0003c0003t0024g0302 a0003c0003t0026g0300 a0003c0003t0033g0207 a0003c0003t0034g0208	20	402	0.0498	-75	c.387 others(92): Show c.387+6008_387+6082delTTATCGGCCTGCGGGTTGTTATCAGCCT GTGGGGTGTTGTTGTCGGCCTGTGAGTTGTTATCGGCCTGTGGGGTG		TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
TRARG1_chr17_1274662_1305978	1288942	CGGACTCC others(68): Show CGGACTCCCCATCCCCCACCGGACTCCCCATCCCCCACGGGCTCCCCATC CCCCACCGGGTTCCCCATCCCCCACG	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	402	0.0025	-75	c.388 others(92): Show c.388-6546_388-6472delACTCCCCATCCCCCACCGGACTCCCCAT CCCCCACGGGCTCCCCATCCCCCACCGGGTTCCCCATCCCCCACGGG		TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
TREML1_chr6_41144337_41159347	41154522	AAGCCTGC others(68): Show AAGCCTGCAGGGGCTGGGGCCCGGCTAAGGGGTGAGATGGGAGGATTGTG ACAATTGGAGGACAGGAGAGGAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	292	0.0034	-75	c.-30 others(84): Show c.-309_-235delCTCTTCCTCTCCTGTCCTCCAATTGTCACAATCCTC CCATCTCACCCCTTAGCCGGGCCCCAGCCCCTGCAGGCT		TREML1	ENSG00000161911.12	transcript	ENST00000426005.7	protein_coding					176		chr6	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(68): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02145.hp2 HG03239.hp1 others(2): Show HG01071.hp2 HG02145.hp2 HG03239.hp1 HG03486.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0001c0028 others(1): Show a0001c0002 a0001c0007 a0001c0028 a0002c0006	a0001c0002t0001 a0001c0007t0001 a0001c0028t0036 others(2): Show a0001c0002t0001 a0001c0007t0001 a0001c0028t0036 a0002c0006t0005 a0002c0006t0029	a0001c0002t0001g0097 a0001c0007t0001g0059 a0001c0028t0036g0117 others(2): Show a0001c0002t0001g0097 a0001c0007t0001g0059 a0001c0028t0036g0117 a0002c0006t0005g0143 a0002c0006t0029g0091	5	180	0.0278	-75	c.188 others(92): Show c.1884+811_1884+885delCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT		TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17						chr6	TogoVar
TRIM29_chr11_120106286_120143113	120121911	GGGCCGGC others(68): Show GGGCCGGCACTCCCAGAACTTGCCCAAAGGCACAGCACCCCAGGCAGGGA GGAGGCAGGCTGGCCGGCTGGGGCCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20752.hp1 HG00639.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	400	0.0050	-75	c.143 others(93): Show c.1435+968_1435+1042delAGGCCCCAGCCGGCCAGCCTGCCTCCT CCCTGCCTGGGGTGCTGTGCCTTTGGGCAAGTTCTGGGAGTGCCGGCC		TRIM29	ENSG00000137699.17	transcript	ENST00000341846.10	protein_coding	5/8						chr11	TogoVar
TRIM2_chr4_153199443_153344317	153244286	CTCCTCCT others(68): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp1 HG03486.hp1 others(1): Show HG02818.hp1 HG02965.hp1 HG03486.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0003 a0001c0003t0014 a0002c0006t0003 a0001c0001t0003 a0001c0003t0014 a0002c0006t0003	a0001c0001t0003g0016 a0001c0003t0014g0076 a0002c0006t0003g0012 others(1): Show a0001c0001t0003g0016 a0001c0003t0014g0076 a0002c0006t0003g0012 a0002c0006t0003g0013	4	268	0.0149	-75	c.31- others(92): Show c.31-26046_31-25972delCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTC		TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM58_chr1_247852187_247885138	247870417	GCCCAGAA others(68): Show GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0274 a0002c0003t0006g0274	1	454	0.0022	-75	c.871 others(92): Show c.871+2429_871+2503delACCCAGAAGAACGAGGATTAGTATATTC ATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC		TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870764	CGGCCACC others(68): Show CGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGT ATATTCATGAGCAGTATCAGAGTCAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0274 a0002c0003t0006g0274	1	454	0.0022	-75	c.871 others(92): Show c.871+2710_871+2784delGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCATGGCCACCC		TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIO_chr5_14138342_14515204	14403645	GGTGGTGG others(68): Show GGTGGTGGTGAGGGTGCAGGTGGTGGTGAGGGTGCAGGTGGTGGTGAGGG TGTAGGTTGTGGTGAGGGTGTAGGTT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0041 a0007c0041	a0007c0041t0006 a0007c0041t0006	a0007c0041t0006g0174 a0007c0041t0006g0174	1	198	0.0051	-75	c.471 others(94): Show c.4717-2196_4717-2122delGTGAGGGTGCAGGTGGTGGTGAGGGT GCAGGTGGTGGTGAGGGTGTAGGTTGTGGTGAGGGTGTAGGTTGTGGTG		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	31/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIQK_chr8_92878534_92971144	92949707	GGAAGGGA others(68): Show GGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGAAGGAAAGGGAA GGAAAGAAAGAGAAGGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0011	1	342	0.0029	-75	c.-22 others(92): Show c.-22+4624_-22+4698delTTCTTTCTTTCCTTCTCTTTCTTTCCTT CCCTTTCCTTCCTTTCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTC		TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4						chr8	TogoVar
TSPAN11_chr12_30921748_31001599	30957710	TCCTTCCT others(68): Show TCCTTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03540.hp1 HG03704.hp1 HG02622.hp2 HG03540.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0034 a0001c0001t0001 a0001c0001t0002 a0001c0001t0034	a0001c0001t0001g0288 a0001c0001t0002g0296 a0001c0001t0034g0228 a0001c0001t0001g0288 a0001c0001t0002g0296 a0001c0001t0034g0228	3	394	0.0076	-75	c.84+ others(90): Show c.84+3636_84+3710delCCTTCCTTCCTTCCTTCCCTCCTTCCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC		TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	2/7						chr12	TogoVar

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