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
KIF25_chr6_167992671_168050091	168001869	AAAGACAC others(26): Show AAAGACACCTGAGGCGTGGCCTCGGGCAGGTGAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp2 HG02895.hp2 others(1): Show HG01167.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1	a0006 a0009 a0006 a0009	a0006c0008 a0009c0013 a0006c0008 a0009c0013	a0006c0008t0016 a0009c0013t0016 a0006c0008t0016 a0009c0013t0016	a0006c0008t0016g0167 a0006c0008t0016g0169 a0006c0008t0016g0170 others(1): Show a0006c0008t0016g0167 a0006c0008t0016g0169 a0006c0008t0016g0170 a0009c0013t0016g0168	4	370	0.0108	-33	c.-36 others(50): Show c.-369-620_-369-588delTCGGGCAGGTGAGAAGACACCTGAGGCG TGGCC		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168002104	AAAGACAC others(26): Show AAAGACACCTGAGGCGTGGCCTCGGGCAGGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(113): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01433.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18973.hp1 NA18981.hp2 NA18982.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19064.hp2 NA19072.hp1 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0013 a0014 a0017 a0018	a0001c0001 a0001c0003 a0001c0018 others(12): Show a0001c0001 a0001c0003 a0001c0018 a0001c0019 a0002c0002 a0003c0004 a0004c0005 a0006c0008 a0008c0012 a0009c0013 a0010c0011 a0013c0020 a0014c0026 a0017c0025 a0018c0021	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(25): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0003t0015 a0001c0003t0026 a0001c0003t0037 a0001c0018t0036 a0001c0019t0018 a0002c0002t0001 a0002c0002t0013 a0003c0004t0001 a0004c0005t0015 a0006c0008t0016 a0008c0012t0001 a0009c0013t0016 a0009c0013t0018 a0010c0011t0001 a0013c0020t0001 a0014c0026t0028 a0017c0025t0001 a0018c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(110): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0328 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0008g0282 a0001c0001t0008g0286 a0001c0001t0013g0237 a0001c0001t0018g0272 a0001c0001t0024g0283 a0001c0001t0024g0284 a0001c0001t0027g0196 a0001c0001t0027g0225 a0001c0001t0028g0165 a0001c0001t0035g0325 a0001c0001t0038g0362 a0001c0001t0041g0208 a0001c0003t0015g0287 a0001c0003t0015g0288 a0001c0003t0026g0184 a0001c0003t0026g0233 a0001c0003t0037g0238 a0001c0018t0036g0185 a0001c0019t0018g0271 a0002c0002t0001g0231 a0002c0002t0001g0240 a0002c0002t0013g0180 a0002c0002t0013g0246 a0002c0002t0013g0247 a0002c0002t0013g0248 a0003c0004t0001g0177 a0003c0004t0001g0199 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0224 a0004c0005t0015g0163 a0004c0005t0015g0164 a0006c0008t0016g0167 a0006c0008t0016g0169 a0006c0008t0016g0170 a0008c0012t0001g0250 a0009c0013t0016g0168 a0009c0013t0018g0273 a0010c0011t0001g0186 a0013c0020t0001g0241 a0014c0026t0028g0285 a0017c0025t0001g0229 a0018c0021t0001g0202	116	373	0.3110	-33	c.-36 others(50): Show c.-369-376_-369-344delTGAGAAGACACCTGAGGCGTGGCCTCGG GCAGG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF27_chr9_83829099_83926432	83920863	TGGGAAAT others(26): Show TGGGAAATGCGCCCAAGTTTCAACCTCTACGGTG	T T	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0257 a0003c0004t0001g0257	1	344	0.0029	-33	c.-88 others(48): Show c.-88+475_-88+507delCACCGTAGAGGTTGAAACTTGGGCGCATTT CCC		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	1/17						chr9	TogoVar
KIF3A_chr5_132687631_132742546	132724807	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02155.hp2 NA18747.hp2 others(2): Show HG02040.hp1 HG02155.hp2 NA18747.hp2 NA18962.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0072 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0229	5	285	0.0175	-33	c.510 others(50): Show c.510+1288_510+1320delATATATATATATATATATATATATATAT ATATA		KIF3A	ENSG00000131437.16	transcript	ENST00000403231.6	protein_coding	4/18						chr5	TogoVar
KIRREL3_chr11_126418358_127005770	126923242	TCTTCTTC others(26): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0019 a0001c0004t0006g0020 a0001c0004t0006g0019 a0001c0004t0006g0020	2	114	0.0175	-33	c.55+ others(50): Show c.55+77180_55+77212delGAGAAGGAGAAGAAGAAGAAGAAGAAGA AGAAG		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
KLF12_chr13_73681089_74139404	73901581	AAAAAAAA others(26): Show AAAAAAAAATCCCCAAAATGGAGCACACAAATCT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0105 a0001c0001t0040g0105	1	118	0.0085	-33	c.123 others(52): Show c.123+42367_123+42399delAGATTTGTGTGCTCCATTTTGGGGAT TTTTTTT		KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	3/7						chr13	TogoVar
KLF17_chr1_44113821_44140140	44119132	AATGGGAG others(26): Show AATGGGAGATTGGGGAGGGGTTGCAAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0065 a0003c0003t0003g0065	1	442	0.0023	-33	c.81+ others(46): Show c.81+186_81+218delTTGGGGAGGGGTTGCAAAGGGAGGGATGGGAG A		KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF4_chr9_107479852_107494769	107493254	GGAGGTGG others(26): Show GGAGGTGGAAGCAGTTCTCATGCCTCAGCCTCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 NA18983.hp1 HG00408.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	426	0.0047	-33	c.-41 others(44): Show c.-4115_-4083delTGGAGGCTGAGGCATGAGAACTGCTTCCACCTC		KLF4	ENSG00000136826.15	transcript	ENST00000374672.5	protein_coding					3486		chr9	TogoVar
KLHL15_chrX_23978720_24032186	23979571	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	277	0.0036	-33	c.83 others(44): Show c.8317_*8349delATATATATATATATATTTTTTTTTTTTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4148		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979581	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02976.hp1 NA21309.hp1 HG01891.hp2 HG02976.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0003 a0002c0006t0003 a0001c0001t0003 a0002c0006t0003	a0001c0001t0003g0155 a0001c0001t0003g0168 a0002c0006t0003g0023 a0001c0001t0003g0155 a0001c0001t0003g0168 a0002c0006t0003g0023	3	276	0.0109	-33	c.83 others(44): Show c.8307_*8339delATATATATATATATATATATATATATTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					4138		chrX	TogoVar
KLHL17_chr1_955584_970719	964529	AGGTCCGC others(26): Show AGGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp1 HG01243.hp2 others(8): Show HG01069.hp2 HG01123.hp1 HG01243.hp2 HG01891.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03453.hp1 HG03471.hp2 HG06807.hp2 NA19240.hp1	a0002 a0002	a0002c0006 a0002c0020 a0002c0006 a0002c0020	a0002c0006t0007 a0002c0020t0016 a0002c0006t0007 a0002c0020t0016	a0002c0006t0007g0008 a0002c0006t0007g0018 a0002c0006t0007g0037 others(1): Show a0002c0006t0007g0008 a0002c0006t0007g0018 a0002c0006t0007g0037 a0002c0020t0016g0042	11	430	0.0256	-33	c.170 others(48): Show c.1700+17_1700+49delCGGGGAGGGGGGCGCGGGTCCGCAGTGGGG CTG		KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
KLK10_chr19_51007739_51024709	51021474	TCTTCAAC others(26): Show TCTTCAACTATAAAATAGGTATGAAAACAGTACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0013 a0002c0001t0001g0013	1	448	0.0022	-33	c.-18 others(44): Show c.-1890_-1858delGGTACTGTTTTCATACCTATTTTATAGTTGAAG		KLK10	ENSG00000129451.12	transcript	ENST00000358789.8	protein_coding					1766		chr19	TogoVar
KLRB1_chr12_9589551_9612916	9606701	ATATATAA others(26): Show ATATATAAAATATATAAAATATATGTATAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02280.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0301 a0001c0001t0004g0303 a0001c0001t0004g0301 a0001c0001t0004g0303	2	434	0.0046	-33	c.85+ others(48): Show c.85+1021_85+1053delCTTTTTATACATATATTTTATATATTTTAT ATA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KMT2C_chr7_152129925_152441003	152290272	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0022 a0002c0007t0002g0022	1	167	0.0060	-33	c.850 others(52): Show c.850-16438_850-16406delAAAAAAAAAAATATATATATATATAT ATATATA		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58						chr7	TogoVar
KNDC1_chr10_133155219_133231412	133188717	CCGCCGTC others(26): Show CCGCCGTCCCACACCCCCGCCGTCCCACCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(24): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0011 a0003c0015 a0003c0032 others(5): Show a0003c0011 a0003c0015 a0003c0032 a0003c0034 a0006c0010 a0006c0019 a0007c0009 a0007c0047	a0003c0011t0001 a0003c0015t0002 a0003c0032t0008 others(7): Show a0003c0011t0001 a0003c0015t0002 a0003c0032t0008 a0003c0034t0001 a0006c0010t0001 a0006c0010t0023 a0006c0019t0003 a0007c0009t0001 a0007c0009t0002 a0007c0047t0001	a0003c0011t0001g0027 a0003c0011t0001g0055 a0003c0011t0001g0145 others(24): Show a0003c0011t0001g0027 a0003c0011t0001g0055 a0003c0011t0001g0145 a0003c0011t0001g0146 a0003c0011t0001g0209 a0003c0011t0001g0247 a0003c0011t0001g0248 a0003c0015t0002g0236 a0003c0032t0008g0305 a0003c0034t0001g0309 a0006c0010t0001g0044 a0006c0010t0001g0047 a0006c0010t0001g0048 a0006c0010t0001g0049 a0006c0010t0001g0050 a0006c0010t0001g0239 a0006c0010t0023g0021 a0006c0019t0003g0274 a0006c0019t0003g0275 a0007c0009t0001g0002 a0007c0009t0001g0045 a0007c0009t0001g0046 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0007c0047t0001g0002	27	330	0.0818	-33	c.144 others(48): Show c.1441+66_1441+98delGCCGTCCCACACCCCCGCCGTCCCACCCCC CAC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNTC1_chr12_122522249_122631396	122579025	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02071.hp1 HG04184.hp2 others(4): Show HG01192.hp2 HG02071.hp1 HG04184.hp2 NA18940.hp1 NA18987.hp1 NA18988.hp1 NA19067.hp2	a0001 a0006 a0017 a0001 a0006 a0017	a0001c0001 a0006c0007 a0017c0019 a0001c0001 a0006c0007 a0017c0019	a0001c0001t0001 a0006c0007t0001 a0017c0019t0001 a0001c0001t0001 a0006c0007t0001 a0017c0019t0001	a0001c0001t0001g0155 a0001c0001t0001g0178 a0001c0001t0001g0179 others(4): Show a0001c0001t0001g0155 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0300 a0006c0007t0001g0276 a0017c0019t0001g0134	7	8	0.8750	-33	c.284 others(50): Show c.2842-855_2842-823delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	31/63					INFO_REALIGN_3_PRIME	chr12	TogoVar
KRT76_chr12_52763155_52782345	52763592	CAATCTTT others(26): Show CAATCTTTAACGAATACCTTTCTTTGGTAGAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0014 a0007c0015t0001g0014	1	442	0.0023	-33	c.50 others(44): Show c.5088_*5120delTTTTCTACCAAAGAAAGGTATTCGTTAAAGATT		KRT76	ENSG00000185069.2	transcript	ENST00000332411.2	protein_coding					4562		chr12	TogoVar
KRTAP10-11_chr21_44641414_44652650	44645405	GGGGTGCA others(26): Show GGGGTGCAATGGTGCAATCTCAGCTCACTGCAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	420	0.0024	-33	c.-10 others(44): Show c.-1053_-1021delGGGTGCAATGGTGCAATCTCAGCTCACTGCAAC		KRTAP10-11	ENSG00000243489.4	transcript	ENST00000334670.9	protein_coding					1008		chr21	TogoVar
KRTAP10-4_chr21_44568729_44580371	44578085	TCCTCAGC others(26): Show TCCTCAGCCATGTGGAACTGTGAGTCCATTAAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	474	0.0021	-33	c.31 others(44): Show c.3122_*3154delCCTCAGCCATGTGGAACTGTGAGTCCATTAAAC		KRTAP10-4	ENSG00000215454.7	transcript	ENST00000400374.4	protein_coding					2715		chr21	TogoVar
KRTAP2-1_chr17_41041541_41052316	41050879	TATATAAT others(26): Show TATATAATATAATATATATAGTAAAATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03471.hp1 others(1): Show HG01884.hp1 HG02055.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	4	405	0.0099	-33	c.-36 others(44): Show c.-3645_-3613delTATATATATTTTACTATATATATTATATTATAT		KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding					3564		chr17	TogoVar
KRTAP2-1_chr17_41041541_41052316	41050907	TATATAAT others(26): Show TATATAATATATTATATATAGTAAAATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	406	0.0025	-33	c.-36 others(44): Show c.-3673_-3641delTATATATATTTTACTATATATAATATATTATAT		KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding					3592		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41050879	TATATAAT others(26): Show TATATAATATAATATATATAGTAAAATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03471.hp1 NA20300.hp1 HG01884.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	3	409	0.0073	-33	c.39 others(44): Show c.3928_*3960delTATATATATTTTACTATATATATTATATTATAT		KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding					3618		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41050907	TATATAAT others(26): Show TATATAATATATTATATATAGTAAAATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	410	0.0024	-33	c.39 others(44): Show c.3900_*3932delTATATATATTTTACTATATATAATATATTATAT		KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding					3590		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158501	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01123.hp1 others(12): Show HG00323.hp2 HG00544.hp2 HG01123.hp1 HG01516.hp1 HG02056.hp2 HG02148.hp1 HG02523.hp2 HG02896.hp1 HG03017.hp2 HG03834.hp1 NA18964.hp1 NA19006.hp2 NA19055.hp1 NA19068.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0001g0000 a0001c0001t0006g0000	15	242	0.0620	-33	c.16 others(44): Show c.1657_*1689delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1147		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41164625	ATGCTTTT others(26): Show ATGCTTTTTTTTTGGATATTTTCATATATTTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-33	c.-39 others(44): Show c.-3967_-3935delAATAAATATATGAAAATATCCAAAAAAAAAGCA		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					3878		chr17	TogoVar
KYAT1_chr9_128827942_128886950	128865324	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01496.hp2 HG02129.hp1 others(1): Show HG01069.hp2 HG01496.hp2 HG02129.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0085	4	322	0.0124	-33	c.-7+ others(50): Show c.-7+16540_-7+16572delTATATATATATATATATATATATATATA TATAT		KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12						chr9	TogoVar
KYAT1_chr9_128827942_128886950	128865326	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp1 HG02976.hp1 others(2): Show HG01256.hp1 HG01257.hp1 HG02976.hp1 NA19058.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0117 a0001c0001t0001g0124 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0288 a0001c0001t0001g0290	5	316	0.0158	-33	c.-7+ others(50): Show c.-7+16538_-7+16570delTATATATATATATATATATATATATATA TATAT		KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12						chr9	TogoVar
L3MBTL4_chr18_5949717_6419911	5958056	GAGAAGGA others(26): Show GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	83	0.0120	-33	c.167 others(52): Show c.1678-1702_1678-1670delTCTTCTTCTTCTTCTTCTTCTTCTTC TCCTTCT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5958127	GAAAAAGA others(26): Show GAAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG03130.hp1 others(2): Show HG02809.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0007 a0001c0004t0006 a0002c0002t0001 a0001c0001t0007 a0001c0004t0006 a0002c0002t0001	a0001c0001t0007g0016 a0001c0001t0007g0077 a0001c0004t0006g0087 others(2): Show a0001c0001t0007g0016 a0001c0001t0007g0077 a0001c0004t0006g0087 a0002c0002t0001g0035 a0002c0002t0001g0082	5	91	0.0549	-33	c.167 others(52): Show c.1678-1773_1678-1741delGTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTTT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
LACC1_chr13_43874904_43898932	43879794	GGGGCGAG others(26): Show GGGGCGAGGCGAGGCGGGGCGAGGTGGGCGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01074.hp2 others(10): Show HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01934.hp2 HG02055.hp1 HG03225.hp1 HG03491.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0029 others(2): Show a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0029 a0001c0001t0003g0052 a0001c0001t0003g0102	13	454	0.0286	-33	c.-35 others(42): Show c.-359_-327delGGGCGAGGCGAGGCGGGGCGAGGTGGGCGAGGT		LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding					109		chr13	TogoVar
LACC1_chr13_43874904_43898932	43879803	CGAGGCGG others(26): Show CGAGGCGGGGCGAGGTGGGCGAGGTGGGCGAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG00280.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	2	314	0.0064	-33	c.-35 others(42): Show c.-350_-318delGAGGCGGGGCGAGGTGGGCGAGGTGGGCGAGGT		LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding					100		chr13	TogoVar
LACRT_chr12_54625811_54639895	54639035	TGGGAGTG others(26): Show TGGGAGTGTAAACTAGCTCAACCATTGTGGAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	412	0.0024	-33	c.-42 others(44): Show c.-4227_-4195delTCTTCCACAATGGTTGAGCTAGTTTACACTCCC		LACRT	ENSG00000135413.9	transcript	ENST00000257867.5	protein_coding					4141		chr12	TogoVar
LACTB2_chr8_70632266_70674185	70651649	GTTTTCTG others(26): Show GTTTTCTGTGATATAAACACAGAAAACAATTTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG00673.hp2 others(25): Show HG00544.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01106.hp1 HG02055.hp1 HG02165.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18747.hp1 NA18971.hp2 NA18983.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19065.hp2 NA19074.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0049 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0137 a0001c0001t0005g0064 a0001c0002t0003g0024 a0001c0002t0003g0029 a0001c0002t0003g0052 a0001c0002t0003g0057 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0063	28	350	0.0800	-33	c.413 others(50): Show c.413+6074_413+6106delACAAATTGTTTTCTGTGTTTATATCACA GAAAA		LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding	3/6						chr8	TogoVar
LAMA2_chr6_128878138_129521566	129180014	AATTTAAA others(26): Show AATTTAAATACTGAAAAGACACTTAGTGTAGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(42): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00609.hp1 HG01074.hp1 HG01192.hp1 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03688.hp1 HG03710.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp1 NA18979.hp1 NA19043.hp2 NA19060.hp1 NA19084.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0013 a0015 a0016 a0020 a0022 a0024 a0025 a0026 a0029 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0011 a0001c0012 others(39): Show a0001c0001 a0001c0011 a0001c0012 a0001c0067 a0001c0068 a0002c0003 a0002c0004 a0002c0029 a0002c0035 a0002c0056 a0003c0018 a0003c0048 a0003c0051 a0004c0002 a0004c0020 a0004c0027 a0004c0030 a0004c0031 a0004c0063 a0005c0009 a0005c0015 a0006c0047 a0006c0066 a0007c0007 a0007c0017 a0010c0016 a0010c0034 a0011c0008 a0013c0028 a0015c0065 a0016c0064 a0020c0023 a0022c0025 a0024c0014 a0025c0057 a0026c0037 a0029c0019 a0031c0060 a0032c0052 a0033c0013 a0034c0045 a0035c0058	a0001c0001t0001 a0001c0011t0002 a0001c0012t0001 others(39): Show a0001c0001t0001 a0001c0011t0002 a0001c0012t0001 a0001c0067t0001 a0001c0068t0003 a0002c0003t0003 a0002c0004t0007 a0002c0029t0002 a0002c0035t0006 a0002c0056t0003 a0003c0018t0001 a0003c0048t0003 a0003c0051t0001 a0004c0002t0001 a0004c0020t0008 a0004c0027t0001 a0004c0030t0002 a0004c0031t0002 a0004c0063t0001 a0005c0009t0001 a0005c0015t0001 a0006c0047t0006 a0006c0066t0001 a0007c0007t0002 a0007c0017t0007 a0010c0016t0002 a0010c0034t0002 a0011c0008t0002 a0013c0028t0003 a0015c0065t0004 a0016c0064t0004 a0020c0023t0002 a0022c0025t0001 a0024c0014t0005 a0025c0057t0003 a0026c0037t0001 a0029c0019t0002 a0031c0060t0001 a0032c0052t0001 a0033c0013t0002 a0034c0045t0002 a0035c0058t0009	a0001c0001t0001g0052 a0001c0011t0002g0003 a0001c0012t0001g0068 others(42): Show a0001c0001t0001g0052 a0001c0011t0002g0003 a0001c0012t0001g0068 a0001c0067t0001g0070 a0001c0068t0003g0067 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0004t0007g0024 a0002c0029t0002g0074 a0002c0035t0006g0028 a0002c0056t0003g0078 a0003c0018t0001g0032 a0003c0048t0003g0013 a0003c0051t0001g0008 a0004c0002t0001g0062 a0004c0020t0008g0027 a0004c0027t0001g0002 a0004c0030t0002g0040 a0004c0031t0002g0005 a0004c0063t0001g0072 a0005c0009t0001g0015 a0005c0015t0001g0061 a0006c0047t0006g0026 a0006c0066t0001g0064 a0007c0007t0002g0009 a0007c0007t0002g0081 a0007c0017t0007g0025 a0010c0016t0002g0023 a0010c0034t0002g0036 a0011c0008t0002g0084 a0011c0008t0002g0085 a0013c0028t0003g0010 a0015c0065t0004g0069 a0016c0064t0004g0073 a0020c0023t0002g0086 a0022c0025t0001g0029 a0024c0014t0005g0063 a0025c0057t0003g0042 a0026c0037t0001g0065 a0029c0019t0002g0012 a0031c0060t0001g0043 a0032c0052t0001g0014 a0033c0013t0002g0031 a0034c0045t0002g0006 a0035c0058t0009g0004	45	86	0.5233	-33	c.146 others(52): Show c.1467+2206_1467+2238delGTGTAGTGTATTTAAATACTGAAAAG ACACTTA		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	10/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62316035	TGGCACCC others(26): Show TGGCACCCTGGAGGGCAGCCCACACTGCGGGGGA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01515.hp1 HG01515.hp1	a0046 a0046	a0046c0116 a0046c0116	a0046c0116t0001 a0046c0116t0001	a0046c0116t0001g0079 a0046c0116t0001g0079	1	184	0.0054	-33	c.775 others(45): Show c.7757-10_7779delTCCCCCGCAGTGTGGGCTGCCCTCCAGGGTGCC	p.Val others(6): Show p.Val2586fs	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	58/80	7846/11426	7757/11088	2586/3695			chr20	TogoVar
LAMB4_chr7_108018553_108135361	108043545	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02738.hp2 HG04204.hp2 others(1): Show HG02080.hp2 HG02738.hp2 HG04204.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0193 a0001c0001t0001g0264 a0001c0002t0001g0008 others(1): Show a0001c0001t0001g0193 a0001c0001t0001g0264 a0001c0002t0001g0008 a0001c0002t0001g0239	4	124	0.0323	-33	c.447 others(50): Show c.4471+174_4471+206delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	29/33						chr7	TogoVar
LAMC1_chr1_183018420_183150592	183145095	ACTGCCAA others(26): Show ACTGCCAAGCTAGTTTGGGTGAAGTTCACTCCAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0023 a0002c0001t0023	a0002c0001t0023g0004 a0002c0001t0023g0004	1	306	0.0033	-33	c.23 others(44): Show c.2307_*2339delTGCCAAGCTAGTTTGGGTGAAGTTCACTCCAGC		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	28/28				2307	INFO_REALIGN_3_PRIME	chr1	TogoVar
LARP4_chr12_50395885_50485004	50436068	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTATCCCGCTG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0300 a0001c0001t0021g0300	1	316	0.0032	-33	c.535 others(48): Show c.535+464_535+496delTGTGTATCCCGCTGGTGTGTGTGTGTGTGT GTG		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LATS2_chr13_20968036_21066586	20969698	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA19030.hp1 HG01243.hp1 NA19030.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0020 a0004c0019t0020	a0004c0019t0020g0303 a0004c0019t0020g0304 a0004c0019t0020g0303 a0004c0019t0020g0304	2	202	0.0099	-33	c.51 others(44): Show c.5139_*5171delATATATATATATATATATATATATATATATATA		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding					3337		chr13	TogoVar
LATS2_chr13_20968036_21066586	21007697	ATAGTATG others(26): Show ATAGTATGTATATATATATATATATAGTATATAT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0058 a0003c0005t0002g0058	1	288	0.0035	-33	c.343 others(52): Show c.343-16326_343-16294delATATATACTATATATATATATATATA CATACTA		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LBR_chr1_225396502_225433038	225426581	ACAACAAT others(26): Show ACAACAATTCTCTGCTCATTAACATTACAGGGGT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0191 a0001c0005t0001g0191	1	336	0.0030	-33	c.-15 others(50): Show c.-15+1340_-15+1372delACCCCTGTAATGTTAATGAGCAGAGAAT TGTTG		LBR	ENSG00000143815.15	transcript	ENST00000272163.9	protein_coding	1/13						chr1	TogoVar
LCE7A_chr1_152854996_152866252	152860609	TAGAAAAA others(26): Show TAGAAAAATGTTGATACAAACAAGGTTTACATTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	396	0.0025	-33	c.-21 others(46): Show c.-21-66_-21-34delGAAAAATGTTGATACAAACAAGGTTTACATTA A		LCE7A	ENSG00000285946.2	transcript	ENST00000650277.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE7A_chr1_152854996_152866252	152865241	GCGCTTTT others(26): Show GCGCTTTTTATGGCCTAGGCATTGATCTGAGAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	-33	c.42 others(44): Show c.4257_*4289delCGCTTTTTATGGCCTAGGCATTGATCTGAGAGC		LCE7A	ENSG00000285946.2	transcript	ENST00000650277.2	protein_coding					3990		chr1	TogoVar
LCN15_chr9_136754634_136769518	136769246	CCCCCCCG others(26): Show CCCCCCCGCCACCCCGCCACCCCTCCATGCACTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	349	0.0029	-33	c.-47 others(44): Show c.-4791_-4759delCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4729		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769280	CCCCCCCG others(26): Show CCCCCCCGCCACCCCGCCACCCCTCCATGCACTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02717.hp2 HG01515.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	354	0.0056	-33	c.-48 others(44): Show c.-4825_-4793delCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4763		chr9	TogoVar
LCNL1_chr9_136977993_136990758	136978681	CGTGAGGG others(26): Show CGTGAGGGGCGTGGTCAGCTCCTGGGGCGGGGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA19082.hp1 NA18979.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	380	0.0053	-33	c.-49 others(44): Show c.-4905_-4873delGTGAGGGGCGTGGTCAGCTCCTGGGGCGGGGAT		LCNL1	ENSG00000214402.7	transcript	ENST00000408973.3	protein_coding					4311		chr9	TogoVar
LCNL1_chr9_136977993_136990758	136978692	TGGTCAGC others(26): Show TGGTCAGCTCCTGGGGCGGGGATGTGAGGGGCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02717.hp1 HG02109.hp1 HG02258.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0004 a0001c0001t0008g0006 a0001c0001t0001g0004 a0001c0001t0008g0006	3	380	0.0079	-33	c.-48 others(44): Show c.-4894_-4862delGGTCAGCTCCTGGGGCGGGGATGTGAGGGGCGG		LCNL1	ENSG00000214402.7	transcript	ENST00000408973.3	protein_coding					4300		chr9	TogoVar
LDLRAP1_chr1_25538606_25573886	25573853	AGTGCCCA others(26): Show AGTGCCCACCACATGCCAGGATGCATGCCAGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0027 a0002c0001t0002g0027	1	362	0.0028	-33	c.68 others(44): Show c.6862_*6894delGTGCCCACCACATGCCAGGATGCATGCCAGGCG		LDLRAP1	ENSG00000157978.12	transcript	ENST00000374338.5	protein_coding					4968		chr1	TogoVar
LEFTY2_chr1_225931603_225946220	225935971	GCCACTGC others(26): Show GCCACTGCACTTCCGCCCAGGTGACAGTGCGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	452	0.0022	-33	c.14 others(44): Show c.1437_*1469delTCTCGCACTGTCACCTGGGCGGAAGTGCAGTGG		LEFTY2	ENSG00000143768.13	transcript	ENST00000366820.10	protein_coding					631		chr1	TogoVar
LETM1_chr4_1806479_1861156	1823314	CGCTCGCC others(26): Show CGCTCGCCCGATGACTCCTGACATGTGGGAAGGA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03579.hp2 NA18949.hp2 others(2): Show HG02723.hp1 HG03579.hp2 NA18949.hp2 NA18998.hp2 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0022 a0002c0003t0023 others(2): Show a0002c0003t0009 a0002c0003t0022 a0002c0003t0023 a0002c0003t0024 a0002c0003t0026	a0002c0003t0009g0032 a0002c0003t0022g0176 a0002c0003t0023g0179 others(2): Show a0002c0003t0009g0032 a0002c0003t0022g0176 a0002c0003t0023g0179 a0002c0003t0024g0033 a0002c0003t0026g0178	5	198	0.0253	-33	c.133 others(50): Show c.1333-216_1333-184delTCCTTCCCACATGTCAGGAGTCATCGGG CGAGC		LETM1	ENSG00000168924.15	transcript	ENST00000302787.3	protein_coding	8/13						chr4	TogoVar

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