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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIF21A_chr12_39288228_39448120	39416765	A A	ATATATAT others(39): Show ATATATATGTACATATATATGTGTATATATATGTACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0143 a0003c0010t0003g0143	1	278	0.0036	46	c.44+ others(63): Show c.44+26161_44+26162insCACATATATATGTACATATATATACACA TATATATGTACATATATA	KIF21A	ENSG00000139116.19	transcript	ENST00000361418.10	protein_coding	1/37			chr12	TogoVar
KIF25_chr6_167992671_168050091	167997285	G G	GGGGCGGG others(39): Show GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02083.hp2 HG03710.hp1 HG00733.hp2 HG02083.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0025 a0001c0001t0006 a0001c0001t0025	a0001c0001t0006g0020 a0001c0001t0006g0158 a0001c0001t0025g0153 a0001c0001t0006g0020 a0001c0001t0006g0158 a0001c0001t0025g0153	3	353	0.0085	46	c.-21 others(57): Show c.-2184_-2183insGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		385		chr6	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0083 a0001c0002t0075g0083	1	13	0.0769	46	c.209 others(65): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18747.hp1 HG03704.hp2 NA18747.hp1	a0002 a0016 a0002 a0016	a0002c0006 a0016c0021 a0002c0006 a0016c0021	a0002c0006t0068 a0016c0021t0017 a0002c0006t0068 a0016c0021t0017	a0002c0006t0068g0007 a0016c0021t0017g0114 a0002c0006t0068g0007 a0016c0021t0017g0114	2	14	0.1429	46	c.209 others(65): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02074.hp1 HG02056.hp1 HG02074.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0028 a0001c0002 a0002c0028	a0001c0002t0053 a0002c0028t0003 a0001c0002t0053 a0002c0028t0003	a0001c0002t0053g0122 a0002c0028t0003g0011 a0001c0002t0053g0122 a0002c0028t0003g0011	2	14	0.1429	46	c.209 others(65): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0049 a0001c0013t0049	a0001c0013t0049g0154 a0001c0013t0049g0154	1	13	0.0769	46	c.209 others(65): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848054	T T	TATATATC others(39): Show TATATATCATATGATATATATGATATATCATATATATGATATATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01943.hp2 HG03041.hp2 others(4): Show HG01070.hp2 HG01943.hp2 HG03041.hp2 HG03098.hp1 HG03704.hp2 NA18949.hp1 NA18995.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0274 a0003c0004t0001g0276 a0003c0004t0001g0277 others(4): Show a0003c0004t0001g0274 a0003c0004t0001g0276 a0003c0004t0001g0277 a0003c0004t0001g0280 a0003c0004t0001g0287 a0003c0004t0001g0296 a0003c0004t0001g0300	7	314	0.0223	46	c.355 others(65): Show c.3556+2044_3556+2045insCATATATATCATATATATGATATATC ATATATATCATATGATATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCT others(39): Show TTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTCTCCCCCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(222): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0002c0007 a0002c0014 a0003c0009 a0004c0008 a0005c0012 a0007c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0002c0002t0002 a0002c0007t0002 a0002c0014t0002 a0003c0009t0002 a0004c0008t0001 a0005c0012t0001 a0007c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(184): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0246 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0004g0023 a0001c0001t0005g0001 a0001c0001t0006g0220 a0001c0001t0008g0204 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0096 a0001c0003t0002g0247 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0240 a0001c0004t0001g0241 a0001c0004t0001g0242 a0001c0004t0001g0244 a0001c0005t0001g0038 a0001c0005t0001g0042 a0001c0005t0001g0043 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0147 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0158 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0007t0002g0135 a0002c0014t0002g0115 a0003c0009t0002g0101 a0004c0008t0001g0002 a0005c0012t0001g0029 a0007c0016t0001g0016	225	232	0.9698	46	c.-18 others(57): Show c.-1879_-1878insTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTCT CCCCCTCCCCCC	KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding		1782		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCT others(39): Show TTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTCTCCCCCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02622.hp1 others(21): Show HG02257.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA18944.hp1 NA18969.hp1 NA18971.hp2 NA18989.hp2 NA19043.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0007 a0001c0003 a0001c0006 a0002c0007	a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 others(1): Show a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 a0002c0007t0002	a0001c0003t0002g0014 a0001c0003t0002g0075 a0001c0003t0002g0134 others(16): Show a0001c0003t0002g0014 a0001c0003t0002g0075 a0001c0003t0002g0134 a0001c0003t0002g0136 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0145 a0001c0003t0002g0157 a0001c0003t0003g0013 a0001c0003t0003g0137 a0001c0003t0003g0252 a0001c0006t0001g0026 a0001c0006t0001g0064 a0001c0006t0001g0221 a0001c0006t0001g0253 a0002c0007t0002g0139 a0002c0007t0002g0146	24	31	0.7742	46	c.-18 others(57): Show c.-1879_-1878insTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTCT CCCCCTCCCTCC	KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding		1782		chr1	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATATTTAT others(39): Show ATATTTATATTTATATATATATTTATATTTATTTATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	104	0.0096	46	c.174 others(65): Show c.1749-3998_1749-3997insTTATATATATATTTATATTTATTTAT TTATATATATTTATTTATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF4A_chrX_70285104_70425886	70373546	A A	ATATATAT others(39): Show ATATATATATGTATATATATATATATATGTATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	254	0.0039	46	c.167 others(63): Show c.1675-596_1675-595insGTATATATATATATATATGTATATATAT ATATATGTGTATATATAT	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF6_chr6_39324990_39730408	39346132	C C	CCTCTCTC others(39): Show CCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0109 a0003c0003t0014g0109	1	82	0.0122	46	c.223 others(63): Show c.2231+343_2232-343insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGGGAGAGAGAGAG	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22			chr6	TogoVar
KIFAP3_chr1_169916329_170079695	169928699	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	13	0.0769	46	c.227 others(65): Show c.2274-6919_2274-6918insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	19/19			chr1	TogoVar
KIFAP3_chr1_169916329_170079695	169973105	G G	GTGTATAT others(39): Show GTGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01261.hp2 HG02109.hp2 others(4): Show HG00673.hp2 HG01261.hp2 HG02109.hp2 HG02717.hp1 NA18955.hp1 NA18964.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0054 a0001c0001t0001g0319 a0001c0001t0002g0249 a0001c0004t0001g0014	7	39	0.1795	46	c.189 others(63): Show c.1898-508_1898-507insTATATATATATATATATATATATATATA TATATATATATATATACA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIRREL3_chr11_126418358_127005770	126821351	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG04228.hp1 NA18962.hp1 others(1): Show HG01099.hp2 HG04228.hp1 NA18962.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0002t0044 a0001c0001t0002 a0001c0002t0004 a0001c0002t0044	a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0002t0004g0102 others(1): Show a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0002t0004g0102 a0001c0002t0044g0111	4	77	0.0519	46	c.55+ others(65): Show c.55+179103_55+179104insCACATATATATATATATATATATATA TATATATATATATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KLC3_chr19_45335750_45356519	45337695	T T	TCGCCCTC others(39): Show TCGCCCTCCTGATCTCAGGTGATCCGCCCTCCTGATCTCAGGTGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02602.hp1 HG02630.hp1 others(9): Show HG01891.hp2 HG02602.hp1 HG02630.hp1 HG02717.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp2 HG03688.hp2 HG06807.hp1 NA18969.hp2 NA20129.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0011 a0001c0001 a0001c0003 a0008c0011	a0001c0001t0001 a0001c0003t0001 a0008c0011t0001 a0001c0001t0001 a0001c0003t0001 a0008c0011t0001	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0061 others(8): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0182 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0254 a0001c0003t0001g0246 a0008c0011t0001g0063	12	292	0.0411	46	c.-31 others(57): Show c.-3160_-3159insCGCCCTCCTGATCTCAGGTGATCCGCCCTCCTGA TCTCAGGTGATC	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding		3054		chr19	TogoVar
KLF11_chr2_10038550_10059836	10043258	G G	GCCGCCCC others(39): Show GCCGCCCCCCTCCGCCCCCGCCGCCCCCTCCGCCCCCGCCGCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	171	0.0058	46	c.-45 others(55): Show c.-459_-458insCCGCCCCCCTCCGCCCCCGCCGCCCCCTCCGCCCCC GCCGCCCCCT	KLF11	ENSG00000172059.11	transcript	ENST00000305883.6	protein_coding		291		chr2	TogoVar
KLF9_chr9_70379604_70419657	70409131	T T	TGTGTGTA others(39): Show TGTGTGTATATACATACATATATGTATATATATGTGTGTGTATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG01243.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0024 a0001c0001t0009g0024	2	397	0.0050	46	c.505 others(63): Show c.505+3727_505+3728insGTATATACACACACATATATATACATAT ATGTATGTATATACACAC	KLF9	ENSG00000119138.5	transcript	ENST00000377126.4	protein_coding	1/1			chr9	TogoVar
KLF9_chr9_70379604_70419657	70409172	A A	ATATATGT others(39): Show ATATATGTATACATATACATGTATATGTATATATATACACATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	395	0.0025	46	c.505 others(63): Show c.505+3686_505+3687insCATATATGTGTATATATATACATATACA TGTATATGTATACATATA	KLF9	ENSG00000119138.5	transcript	ENST00000377126.4	protein_coding	1/1			chr9	TogoVar
KLF9_chr9_70379604_70419657	70409181	T T	TGTGTATA others(39): Show TGTGTATATATATACATATATGTATATATGTGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	395	0.0025	46	c.505 others(63): Show c.505+3677_505+3678insGTATATATATACACACACATATATACAT ATATGTATATATATACAC	KLF9	ENSG00000119138.5	transcript	ENST00000377126.4	protein_coding	1/1			chr9	TogoVar
KLF9_chr9_70379604_70419657	70409181	T T	TGTGTGTA others(39): Show TGTGTGTATATACATACATATATGTATATATATGTGTGTGTATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG03225.hp1 HG01891.hp1 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0039 a0001c0001t0017 a0001c0001t0039	a0001c0001t0017g0295 a0001c0001t0017g0296 a0001c0001t0039g0294 a0001c0001t0017g0295 a0001c0001t0017g0296 a0001c0001t0039g0294	3	397	0.0076	46	c.505 others(63): Show c.505+3677_505+3678insGTATATACACACACATATATATACATAT ATGTATGTATATACACAC	KLF9	ENSG00000119138.5	transcript	ENST00000377126.4	protein_coding	1/1			chr9	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(39): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	26	0.0385	46	c.22 others(57): Show c.2297_*2298insAAAAAAAAATATATATATATATATATATATATAT ATATATATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87706229	G G	GGGGTCAG others(39): Show GGGGTCAGCGTAATGCAAACACAAGCTGCAGCCCTCGGGGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	372	0.0027	46	c.18 others(57): Show c.1847_*1848insACCCCCCCCCCGAGGGCTGCAGCTTGTGTTTGCA TTACGCTGACCC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		1582		chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739111	C C	TCTCATCC others(39): Show TCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03139.hp1 HG03540.hp2 HG01167.hp2 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0141 a0001c0001t0001g0323 a0001c0001t0001g0098 a0001c0001t0001g0141 a0001c0001t0001g0323	3	237	0.0127	46	c.507 others(63): Show c.507-8467_507-8466insTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGA	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHL18_chr3_47277944_47351816	47316503	A A	ATATGTGT others(39): Show ATATGTGTGTATATATATACATATATACGTATATATGTATATGTGTG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	310	0.0032	46	c.130 others(63): Show c.130-3147_130-3146insGTGTGTATATATATACATATATACGTAT ATATGTATATGTGTGTAT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(39): Show GATATATATACAAATTCCTTGTAAGGGAGGTACATAGCTTTATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	37	0.0270	46	c.180 others(65): Show c.1803-1482_1803-1481insATATATAAAGCTATGTACCTCCCTTA CAAGGAATTTGTATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69939359	A A	ATATATAC others(39): Show ATATATACATATACATACTATATATATATATATATACATATACATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	179	0.0056	46	c.101 others(63): Show c.1014+680_1014+681insGTATGTATATGTATATATATATATATAT AGTATGTATATGTATATA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	4/10			chr13	TogoVar
KLHL23_chr2_169728832_169756878	169753131	A A	ATATATAT others(39): Show ATATATATCTATATATATATATCTATATATATATATCTATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0225 a0001c0001t0022g0225	1	386	0.0026	46	c.33 others(57): Show c.3399_*3400insTATATATCTATATATATATATCTATATATATATA TCTATATATATC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding		1254		chr2	TogoVar
KLHL28_chr14_44919324_44966947	44935890	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0057 a0001c0001t0015g0057	1	75	0.0133	46	c.900 others(63): Show c.900-1333_900-1332insTATATATATATATATATATATATATATA TATATATATATATATATA	KLHL28	ENSG00000179454.14	transcript	ENST00000396128.9	protein_coding	2/4			chr14	TogoVar
KLK11_chr19_51017236_51031616	51031595	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	186	0.0054	46	c.-50 others(57): Show c.-5094_-5093insATATATATATATATATATATATATATATATATAT ATATATATATAT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4980		chr19	TogoVar
KLK12_chr19_51024094_51040002	51031595	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	186	0.0054	46	c.457 others(61): Show c.457+280_457+281insATATATATATATATATATATATATATATAT ATATATATATATATAT	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar
KLK5_chr19_50938303_50958038	50956846	A A	AAATGGGA others(39): Show AAATGGGAACAATAATGGTATCCACCTCACAGGCTTGTGATGAGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0046 a0001c0001t0008g0046	1	378	0.0026	46	c.-41 others(57): Show c.-4112_-4111insATCCTCATCACAAGCCTGTGAGGTGGATACCATT ATTGTTCCCATT	KLK5	ENSG00000167754.13	transcript	ENST00000336334.8	protein_coding		3809		chr19	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0024 a0002c0004t0002g0024	1	113	0.0088	46	c.371 others(65): Show c.3712+4834_3712+4835insGTGTGTGTGTGTGTATATATATATAT ATATATATATATATATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0002 a0012c0020t0002	a0012c0020t0002g0060 a0012c0020t0002g0060	1	113	0.0088	46	c.371 others(65): Show c.3712+4834_3712+4835insGTGTGTGTGTGTATATATATATATAT ATATATATATATATATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	113	0.0088	46	c.371 others(65): Show c.3712+4834_3712+4835insGTGTATATATATATATATATATATAT ATATATATATATATATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152235207	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0096 a0001c0006t0002g0096	1	101	0.0099	46	c.276 others(63): Show c.2769+609_2769+610insTATATATATATATATATATATATATATA TATATATATATATATATA	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	16/58			chr7	TogoVar
KNDC1_chr10_133155219_133231412	133185494	G G	GGCAGTGT others(39): Show GGCAGTGTGTGCAGTGTGGAGTAGGCAGTGTGTGCAGTGTGGAGTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG01891.hp1 others(22): Show HG00733.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(4): Show a0003c0011 a0003c0015 a0003c0032 a0003c0034 a0006c0010 a0006c0019 a0007c0009	a0003c0011t0001 a0003c0015t0002 a0003c0032t0008 others(6): Show a0003c0011t0001 a0003c0015t0002 a0003c0032t0008 a0003c0034t0001 a0006c0010t0001 a0006c0010t0023 a0006c0019t0003 a0007c0009t0001 a0007c0009t0002	a0003c0011t0001g0027 a0003c0011t0001g0055 a0003c0011t0001g0145 others(22): Show a0003c0011t0001g0027 a0003c0011t0001g0055 a0003c0011t0001g0145 a0003c0011t0001g0146 a0003c0011t0001g0209 a0003c0011t0001g0247 a0003c0011t0001g0248 a0003c0015t0002g0236 a0003c0032t0008g0305 a0003c0034t0001g0309 a0006c0010t0001g0044 a0006c0010t0001g0047 a0006c0010t0001g0048 a0006c0010t0001g0049 a0006c0010t0001g0050 a0006c0010t0001g0239 a0006c0010t0023g0021 a0006c0019t0003g0274 a0006c0019t0003g0275 a0007c0009t0001g0045 a0007c0009t0001g0046 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131	25	183	0.1366	46	c.626 others(61): Show c.626-463_626-462insGAGTAGGCAGTGTGTGCAGTGTGGAGTTTG CAGTGTGTGCAGTGTG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133222499	G G	GTGTGTGT others(39): Show GTGTGTGTGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0235 a0003c0015t0001g0235	1	330	0.0030	46	c.501 others(65): Show c.5019-2152_5019-2151insAGCCCATCCAGGCATGCTCTTCCCGG CGTGTGTGTGCATGTGTGTG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNG1_chr3_186712359_186749410	186714218	C C	CAAAGAAA others(39): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0007 a0004c0003t0004g0007	1	17	0.0588	46	c.-33 others(57): Show c.-3325_-3324insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAG	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding		3140		chr3	TogoVar
KPNA2_chr17_68030735_68051854	68040290	G G	GACACACA others(39): Show GACACACATACACATACACACACACACACACTCACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	338	0.0030	46	c.214 others(61): Show c.214-388_214-387insACACACATACACATACACACACACACACAC TCACACACACACACAC	KPNA2	ENSG00000182481.10	transcript	ENST00000330459.8	protein_coding	3/10			chr17	TogoVar
KRT10_chr17_40813117_40827614	40823412	A A	AGCATGAA others(39): Show AGCATGAAATCCGAAGAACTAACTTGTAGTACTTTACACTAAGTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0007 a0004c0004t0002g0007	1	424	0.0024	46	c.-82 others(55): Show c.-828_-827insAGAACTTAGTGTAAAGTACTACAAGTTAGTTCTTCG GATTTCATGC	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		799		chr17	TogoVar
KRT40_chr17_40972715_40989326	40974468	C C	CTCTCTCT others(39): Show CTCTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0014 a0004c0007t0002g0014	1	88	0.0114	46	c.37 others(57): Show c.3728_*3729insAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAAA GAAAGAGAGAGA	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		3246		chr17	TogoVar
KRT40_chr17_40972715_40989326	40974724	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA20300.hp1 HG02055.hp2 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0019 a0004c0005t0004g0019	2	330	0.0061	46	c.34 others(57): Show c.3472_*3473insAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		2990		chr17	TogoVar
KRT40_chr17_40972715_40989326	40974724	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02602.hp2 HG02922.hp1 others(5): Show HG00741.hp2 HG02602.hp2 HG02922.hp1 HG03139.hp2 HG06807.hp2 NA18612.hp1 NA19006.hp1 NA19070.hp1	a0005 a0006 a0011 a0005 a0006 a0011	a0005c0004 a0006c0006 a0011c0012 a0005c0004 a0006c0006 a0011c0012	a0005c0004t0002 a0006c0006t0002 a0011c0012t0002 a0005c0004t0002 a0006c0006t0002 a0011c0012t0002	a0005c0004t0002g0003 a0005c0004t0002g0016 a0006c0006t0002g0006 others(2): Show a0005c0004t0002g0003 a0005c0004t0002g0016 a0006c0006t0002g0006 a0006c0006t0002g0011 a0011c0012t0002g0022	8	336	0.0238	46	c.34 others(57): Show c.3472_*3473insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		2990		chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1581852	G G	GTATCTAG others(39): Show GTATCTAGGGACCGTAGGGATCTGTGTCTAGGGACCGTGGGGGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	46	c.25 others(57): Show c.2560_*2561insTAGACCCCCACGGTCCCTAGACACAGATCCCTAC GGTCCCTAGATA	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		2489		chr11	TogoVar
L3MBTL4_chr18_5949717_6419911	6099585	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0087 a0001c0004t0006g0087	1	2	0.5000	46	c.120 others(65): Show c.1200-6058_1200-6057insATATATATATATATATATATATATAT ATATATATATATATATATAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6221362	G G	GGGATCTG others(39): Show GGGATCTGCCAAGGGTCTATCACAATAGACAAATCTATCTGTCTATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0056	1	92	0.0109	46	c.785 others(63): Show c.785-5573_785-5528dupAATAGACAGATAGATTTGTCTATTGTGA TAGACCCTTGGCAGATCC	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	10/18			chr18	TogoVar
LAMA5_chr20_62304065_62372312	62309603	T T	TGGGAGGA others(39): Show TGGGAGGAGGGTGGGAGGGGGGTGGGAGGAGGGTGGGAGGGGGCAGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0001 a0023c0022t0001	a0023c0022t0001g0154 a0023c0022t0001g0155 a0023c0022t0001g0154 a0023c0022t0001g0155	2	182	0.0110	46	c.109 others(65): Show c.10948+112_10948+113insCCTGCCCCCTCCCACCCTCCTCCCAC CCCCCTCCCACCCTCCTCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309634	A A	AGGGTGGG others(39): Show AGGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0027 a0020c0017t0001g0027	1	184	0.0054	46	c.109 others(63): Show c.10948+81_10948+82insACCCCCTCCCACCCCCCACCCCTCCACC CCCTGCCCCCTCCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309635	G G	GGGTGGGA others(39): Show GGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01175.hp2 others(11): Show HG00642.hp1 HG00642.hp2 HG01175.hp2 HG01515.hp1 HG02257.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG03453.hp1 HG03579.hp2 HG03688.hp2 HG04115.hp2 NA18906.hp1 NA19043.hp2	a0002 a0003 a0006 others(9): Show a0002 a0003 a0006 a0013 a0031 a0039 a0046 a0067 a0082 a0088 a0092 a0097	a0002c0124 a0003c0064 a0006c0012 others(9): Show a0002c0124 a0003c0064 a0006c0012 a0013c0107 a0031c0117 a0039c0096 a0046c0116 a0067c0052 a0082c0135 a0088c0034 a0092c0069 a0097c0070	a0002c0124t0001 a0003c0064t0001 a0006c0012t0001 others(9): Show a0002c0124t0001 a0003c0064t0001 a0006c0012t0001 a0013c0107t0001 a0031c0117t0001 a0039c0096t0002 a0046c0116t0001 a0067c0052t0001 a0082c0135t0001 a0088c0034t0001 a0092c0069t0001 a0097c0070t0001	a0002c0124t0001g0025 a0003c0064t0001g0083 a0006c0012t0001g0150 others(11): Show a0002c0124t0001g0025 a0003c0064t0001g0083 a0006c0012t0001g0150 a0006c0012t0001g0152 a0006c0012t0001g0153 a0013c0107t0001g0147 a0031c0117t0001g0072 a0039c0096t0002g0088 a0046c0116t0001g0079 a0067c0052t0001g0015 a0082c0135t0001g0186 a0088c0034t0001g0175 a0092c0069t0001g0068 a0097c0070t0001g0048	14	166	0.0843	46	c.109 others(63): Show c.10948+80_10948+81insACCCCCTCCCACCCCCCCACCCCTCCAC CCCCTGCCCCCTCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar

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