Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
DHRS3_chr1_12562910_12623210	12615134	ACAGAAGC others(18): Show ACAGAAGCCTCATTATAAAGTAGCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(194): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0002c0004 a0003c0008 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(78): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0063 a0001c0001t0064 a0001c0001t0073 a0001c0001t0079 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0002t0040 a0001c0002t0042 a0001c0002t0046 a0001c0002t0056 a0001c0002t0058 a0001c0002t0059 a0001c0002t0066 a0001c0002t0071 a0001c0002t0072 a0001c0002t0075 a0001c0002t0082 a0001c0002t0086 a0001c0002t0089 a0001c0003t0003 a0001c0003t0005 a0001c0003t0013 a0001c0003t0031 a0001c0003t0054 a0001c0003t0055 a0001c0003t0057 a0001c0003t0074 a0001c0003t0097 a0001c0006t0024 a0001c0007t0068 a0002c0004t0006 a0002c0004t0008 a0003c0008t0004 a0005c0005t0006	a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0002g0157 others(192): Show a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0002g0157 a0001c0001t0002g0166 a0001c0001t0002g0177 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0308 a0001c0001t0004g0312 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0005g0234 a0001c0001t0005g0238 a0001c0001t0005g0240 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0245 a0001c0001t0005g0248 a0001c0001t0006g0045 a0001c0001t0006g0054 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0069 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0006g0080 a0001c0001t0007g0277 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0041 a0001c0001t0009g0003 a0001c0001t0009g0096 a0001c0001t0009g0097 a0001c0001t0009g0099 a0001c0001t0010g0194 a0001c0001t0011g0332 a0001c0001t0011g0333 a0001c0001t0011g0335 a0001c0001t0011g0337 a0001c0001t0011g0339 a0001c0001t0011g0340 a0001c0001t0011g0341 a0001c0001t0012g0257 a0001c0001t0014g0278 a0001c0001t0015g0083 a0001c0001t0015g0084 a0001c0001t0015g0086 a0001c0001t0015g0088 a0001c0001t0016g0237 a0001c0001t0016g0244 a0001c0001t0016g0249 a0001c0001t0016g0250 a0001c0001t0016g0255 a0001c0001t0017g0307 a0001c0001t0017g0313 a0001c0001t0017g0324 a0001c0001t0017g0325 a0001c0001t0020g0198 a0001c0001t0020g0199 a0001c0001t0022g0218 a0001c0001t0022g0222 a0001c0001t0024g0013 a0001c0001t0025g0023 a0001c0001t0025g0024 a0001c0001t0025g0025 a0001c0001t0026g0180 a0001c0001t0027g0225 a0001c0001t0029g0027 a0001c0001t0029g0028 a0001c0001t0030g0039 a0001c0001t0030g0040 a0001c0001t0032g0085 a0001c0001t0032g0089 a0001c0001t0033g0098 a0001c0001t0038g0217 a0001c0001t0038g0219 a0001c0001t0039g0226 a0001c0001t0040g0246 a0001c0001t0041g0266 a0001c0001t0045g0328 a0001c0001t0045g0329 a0001c0001t0047g0336 a0001c0001t0047g0342 a0001c0001t0048g0343 a0001c0001t0048g0344 a0001c0001t0049g0352 a0001c0001t0049g0353 a0001c0001t0063g0196 a0001c0001t0064g0201 a0001c0001t0073g0216 a0001c0001t0079g0271 a0001c0001t0085g0296 a0001c0001t0087g0327 a0001c0001t0088g0334 a0001c0002t0001g0168 a0001c0002t0004g0300 a0001c0002t0004g0302 a0001c0002t0004g0305 a0001c0002t0004g0306 a0001c0002t0004g0310 a0001c0002t0004g0311 a0001c0002t0004g0320 a0001c0002t0004g0323 a0001c0002t0005g0231 a0001c0002t0005g0232 a0001c0002t0005g0233 a0001c0002t0005g0235 a0001c0002t0005g0236 a0001c0002t0005g0239 a0001c0002t0005g0241 a0001c0002t0005g0251 a0001c0002t0006g0052 a0001c0002t0006g0068 a0001c0002t0006g0070 a0001c0002t0006g0081 a0001c0002t0008g0035 a0001c0002t0008g0036 a0001c0002t0008g0038 a0001c0002t0008g0042 a0001c0002t0009g0100 a0001c0002t0011g0338 a0001c0002t0012g0256 a0001c0002t0015g0087 a0001c0002t0017g0309 a0001c0002t0020g0197 a0001c0002t0022g0220 a0001c0002t0022g0221 a0001c0002t0040g0247 a0001c0002t0042g0268 a0001c0002t0042g0269 a0001c0002t0046g0330 a0001c0002t0046g0331 a0001c0002t0056g0030 a0001c0002t0058g0082 a0001c0002t0059g0090 a0001c0002t0066g0205 a0001c0002t0071g0212 a0001c0002t0072g0213 a0001c0002t0075g0224 a0001c0002t0082g0295 a0001c0002t0086g0298 a0001c0002t0089g0345 a0001c0003t0003g0055 a0001c0003t0003g0059 a0001c0003t0003g0077 a0001c0003t0005g0254 a0001c0003t0013g0346 a0001c0003t0013g0347 a0001c0003t0013g0348 a0001c0003t0013g0349 a0001c0003t0013g0350 a0001c0003t0013g0351 a0001c0003t0013g0354 a0001c0003t0031g0002 a0001c0003t0054g0026 a0001c0003t0055g0029 a0001c0003t0057g0031 a0001c0003t0074g0223 a0001c0003t0097g0363 a0001c0006t0024g0014 a0001c0007t0068g0209 a0002c0004t0006g0066 a0002c0004t0008g0037 a0003c0008t0004g0326 a0005c0005t0006g0053	197	373	0.5282	-25	c.195 others(42): Show c.195+1995_195+2019delGAGCTACTTTATAATGAGGCTTCTG		DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding	1/5						chr1	TogoVar
DHRS9_chr2_169064563_169101167	169091224	TATAAAAT others(18): Show TATAAAATAAAATAAAATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp2 others(95): Show HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02809.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG04199.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18986.hp2 NA18992.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19066.hp2 NA19075.hp2 NA19078.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0009c0011	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0009c0011t0002	a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0001g0211 others(58): Show a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0001g0211 a0001c0001t0001g0276 a0001c0001t0008g0115 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0034 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0086 a0001c0002t0002g0098 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0130 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0002g0146 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0195 a0001c0002t0002g0199 a0001c0002t0002g0203 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0231 a0001c0002t0002g0240 a0001c0002t0002g0278 a0001c0002t0005g0204 a0001c0003t0001g0136 a0001c0003t0001g0145 a0009c0011t0002g0117	98	145	0.6759	-25	c.573 others(40): Show c.573-514_573-490delTAAAATAAAATAAAATAAAATAAAA		DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHX34_chr19_47344315_47387704	47384325	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0281 a0002c0003t0001g0281	1	13	0.0769	-25	c.22 others(36): Show c.2213_*2237delTTTTTTTTTTTTTTTTTTTTTTTTT		DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding					1622		chr19	TogoVar
DHX36_chr3_154267546_154329487	154310801	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	364	0.0027	-25	c.642 others(40): Show c.642+810_642+834delATATATATATATATATATATTTTTT		DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24						chr3	TogoVar
DHX36_chr3_154267546_154329487	154310803	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0158 a0001c0005t0005g0158	1	361	0.0028	-25	c.642 others(40): Show c.642+808_642+832delATATATATATATATATATATATTTT		DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24						chr3	TogoVar
DHX36_chr3_154267546_154329487	154310805	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp1 HG02630.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0153 a0001c0003t0005g0155 a0001c0003t0005g0153 a0001c0003t0005g0155	2	356	0.0056	-25	c.642 others(40): Show c.642+806_642+830delATATATATATATATATATATATATT		DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24						chr3	TogoVar
DHX36_chr3_154267546_154329487	154310807	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02809.hp2 others(4): Show HG00741.hp2 HG01884.hp2 HG02809.hp2 HG02818.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0003t0005 a0001c0005t0005 others(1): Show a0001c0001t0004 a0001c0003t0005 a0001c0005t0005 a0001c0005t0013	a0001c0001t0004g0058 a0001c0003t0005g0034 a0001c0003t0005g0154 others(3): Show a0001c0001t0004g0058 a0001c0003t0005g0034 a0001c0003t0005g0154 a0001c0005t0005g0269 a0001c0005t0013g0267 a0001c0005t0013g0268	7	211	0.0332	-25	c.642 others(40): Show c.642+804_642+828delATATATATATATATATATATATATA		DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24						chr3	TogoVar
DHX57_chr2_38792729_38880934	38844629	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0143 a0001c0003t0001g0143	1	235	0.0043	-25	c.222 others(44): Show c.2220-1444_2220-1420delTTTTTTTTTTTTTTTTTTTTTTTTT		DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	11/23						chr2	TogoVar
DIAPH1_chr5_141510021_141624000	141510879	GGATATAA others(18): Show GGATATAAGACAGTGACTGTTGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0280 a0003c0003t0001g0280	1	334	0.0030	-25	c.59 others(36): Show c.5947_*5971delTCCTCAACAGTCACTGTCTTATATC		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding					4141		chr5	TogoVar
DICER1_chr14_95081228_95162529	95124663	TAGTATCT others(18): Show TAGTATCTACAAAAAAAAGAAAAGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19058.hp2 NA19058.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0002 a0007c0018t0002	a0007c0018t0002g0206 a0007c0018t0002g0206	1	304	0.0033	-25	c.904 others(35): Show c.904-20_908delTTCTTTTCTTTTTTTTGTAGATACT	p.Leu others(5): Show p.Leu303fs	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	8/27	1253/10384	904/5769	302/1922			chr14	TogoVar
DIDO1_chr20_62872743_62931505	62913289	ATCAGGGC others(18): Show ATCAGGGCACCAGCAGCGACTCCAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(32): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00741.hp1 HG01106.hp1 HG01168.hp1 HG01346.hp1 HG01952.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02135.hp2 NA18946.hp2 NA18956.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2	a0003 a0015 a0003 a0015	a0003c0003 a0003c0006 a0015c0039 a0003c0003 a0003c0006 a0015c0039	a0003c0003t0001 a0003c0006t0001 a0015c0039t0001 a0003c0003t0001 a0003c0006t0001 a0015c0039t0001	a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 others(27): Show a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0027 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0236 a0003c0003t0001g0240 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0006t0001g0244 a0003c0006t0001g0245 a0003c0006t0001g0246 a0003c0006t0001g0248 a0015c0039t0001g0241	35	318	0.1101	-25	c.-3+ others(38): Show c.-3+896_-3+920delCTTGGAGTCGCTGCTGGTGCCCTGA		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	2/15						chr20	TogoVar
DIO1_chr1_53889187_53916086	53891204	CTGTCTGC others(18): Show CTGTCTGCAGTTGATTGGGATAACGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG02055.hp1 others(5): Show HG00642.hp1 HG01243.hp1 HG02055.hp1 HG02280.hp2 HG02615.hp2 HG03041.hp2 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007	a0001c0002t0001g0063 a0001c0002t0002g0207 a0001c0002t0003g0208 others(4): Show a0001c0002t0001g0063 a0001c0002t0002g0207 a0001c0002t0003g0208 a0001c0002t0004g0060 a0001c0002t0004g0062 a0001c0002t0005g0041 a0001c0002t0007g0065	8	449	0.0178	-25	c.-30 others(36): Show c.-3006_-2982delTGTCTGCAGTTGATTGGGATAACGT		DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding					2982		chr1	TogoVar
DIP2A_chr21_46453891_46575015	46495225	TTCTCTTC others(18): Show TTCTCTTCTCTTCTCTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG02895.hp2 others(1): Show HG01433.hp1 HG02055.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0008 a0001c0005t0004 a0001c0005t0008	a0001c0005t0004g0277 a0001c0005t0008g0008 a0001c0005t0008g0011 others(1): Show a0001c0005t0004g0277 a0001c0005t0008g0008 a0001c0005t0008g0011 a0001c0005t0008g0013	4	367	0.0109	-25	c.284 others(42): Show c.284-1757_284-1733delTCTCTTCTCTTCTTTCTCTCTCTCT		DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50579639	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0102 a0001c0001t0012g0102	1	280	0.0036	-25	c.101 others(44): Show c.101-46335_101-46311delAAAAATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0138 a0005c0016t0001g0138	1	260	0.0038	-25	c.101 others(44): Show c.101-46331_101-46307delATATATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	477892	AAGGAAAA others(18): Show AAGGAAAAGAGAGGGAAAGAAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	88	0.0114	-25	c.158 others(42): Show c.158-5368_158-5344delGTCTTTTCTTTCCCTCTCTTTTCCT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36						chr10	TogoVar
DIP2C_chr10_269201_694668	559955	GGTTCTCA others(18): Show GGTTCTCACCTCTCCCCCCCACTCCT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-25	c.86- others(42): Show c.86-73450_86-73426delAGGAGTGGGGGGGAGAGGTGAGAAC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	608263	CCACACAC others(18): Show CCACACACAGCCCCTACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03834.hp1 HG02647.hp2 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0003 a0001c0014t0001 a0001c0004t0003 a0001c0014t0001	a0001c0004t0003g0078 a0001c0014t0001g0032 a0001c0004t0003g0078 a0001c0014t0001g0032	2	71	0.0282	-25	c.85+ others(42): Show c.85+81206_85+81230delTGTGTGTGTGTAGGGGCTGTGTGTG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	685162	ATATATAT others(18): Show ATATATATATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	79	0.0127	-25	c.85+ others(40): Show c.85+4307_85+4331delGTATATATATATATATATATATATA		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIRAS3_chr1_68040962_68055627	68048048	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	370	0.0027	-25	c.-65 others(40): Show c.-65-711_-65-687delATATATATATATATATATATATATT		DIRAS3	ENSG00000162595.8	transcript	ENST00000646789.1	protein_coding	1/1						chr1	TogoVar
DIS3L2_chr2_231956713_232342192	232000613	TTTTCCTT others(18): Show TTTTCCTTTCCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	17	0.0588	-25	c.-93 others(44): Show c.-93-14197_-93-14173delCTTTCCTTTCCTTTCCTTTCCTTTC		DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
DISC1_chr1_231621790_232046272	231762215	CTTCTTTT others(18): Show CTTCTTTTCTTTTCTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0005 a0002c0003t0019g0005	1	36	0.0278	-25	c.126 others(44): Show c.1269-4908_1269-4884delTCTTTTCTTTTCTTTTCTTTTCTTT		DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
DLG1_chr3_197037560_197303612	197127434	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp1 NA19240.hp1 HG02486.hp2 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123	3	330	0.0091	-25	c.116 others(44): Show c.1165+3068_1165+3092delATTTTTTTTTTTTTTTTTTTTTTTT		DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24						chr3	TogoVar
DLG1_chr3_197037560_197303612	197127438	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0097 a0011c0010t0001g0097	1	330	0.0030	-25	c.116 others(44): Show c.1165+3064_1165+3088delATATATTTTTTTTTTTTTTTTTTTT		DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24						chr3	TogoVar
DLG1_chr3_197037560_197303612	197127440	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 NA19085.hp1 HG00738.hp1 HG00741.hp2 NA19085.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0087 a0001c0001t0001g0225 a0006c0011t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0225 a0006c0011t0001g0084	3	317	0.0095	-25	c.116 others(44): Show c.1165+3062_1165+3086delATATATATTTTTTTTTTTTTTTTTT		DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24						chr3	TogoVar
DLG1_chr3_197037560_197303612	197127442	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	327	0.0031	-25	c.116 others(44): Show c.1165+3060_1165+3084delATATATATATTTTTTTTTTTTTTTT		DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24						chr3	TogoVar
DLG2_chr11_83450173_85632344	83577472	AAATAGGA others(18): Show AAATAGGATATATTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp1 HG01884.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0009 a0001c0001t0005g0011 a0001c0001t0001g0009 a0001c0001t0005g0011	2	14	0.1429	-25	c.194 others(46): Show c.1941-35639_1941-35615delATATATATATATAATATATCCTAT T		DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	19/27						chr11	TogoVar
DLG4_chr17_7182187_7222627	7207777	ACGCACAG others(18): Show ACGCACAGGCACACACACAGCACACG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0324 a0001c0001t0061g0324	1	376	0.0027	-25	c.96+ others(38): Show c.96+372_96+396delCGTGTGCTGTGTGTGTGCCTGTGCG		DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	2/19						chr17	TogoVar
DLGAP1_chr18_3491032_4460307	3639546	GGGAATCA others(18): Show GGGAATCACAGCCCATTGGCTTAAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0048 a0001c0003t0005g0048	1	80	0.0125	-25	c.159 others(46): Show c.1592-57323_1592-57299delTTTTAAGCCAATGGGCTGTGATTC C		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12						chr18	TogoVar
DLGAP2_chr8_732628_1713476	1235528	TCATGTCT others(18): Show TCATGTCTAGTTCTCTCACATGGCGC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01361.hp1 others(17): Show HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG03486.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0003c0005	a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 others(16): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0017 a0001c0009t0012 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0003c0005t0004	a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0010g0008 others(17): Show a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0003c0005t0004g0037	20	40	0.5000	-25	c.74- others(42): Show c.74-23299_74-23275delGCCATGTCTAGTTCTCTCACATGGC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1235886	CCACATGG others(18): Show CCACATGGCGCCGTGTCTAGTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03516.hp1 HG01361.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0023 a0001c0011t0015 a0001c0002t0023 a0001c0011t0015	a0001c0002t0023g0005 a0001c0011t0015g0001 a0001c0002t0023g0005 a0001c0011t0015g0001	2	40	0.0500	-25	c.74- others(42): Show c.74-22918_74-22894delCTCTCACATGGCGCCGTGTCTAGTT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1236245	GTCTAGTT others(18): Show GTCTAGTTATCTCACATGGTGCCGTT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01361.hp1 others(17): Show HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG03486.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0003c0005	a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 others(16): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0017 a0001c0009t0012 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0003c0005t0004	a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0010g0008 others(17): Show a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0003c0005t0004g0037	20	40	0.5000	-25	c.74- others(42): Show c.74-22598_74-22574delATCTCACATGGTGCCGTTTCTAGTT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1239875	GTGTCTAG others(18): Show GTGTCTAGTTCTCTCACATGGTGCCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-25	c.74- others(42): Show c.74-18955_74-18931delTGCCATGTCTAGTTCTCTCACATGG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1241339	GTCTCACA others(18): Show GTCTCACATGGCGCCGTGTCTAGTTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02895.hp1 others(2): Show HG00639.hp2 HG01891.hp2 HG02895.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 a0001c0002 a0001c0003 a0001c0010	a0001c0002t0006 a0001c0003t0001 a0001c0003t0014 others(1): Show a0001c0002t0006 a0001c0003t0001 a0001c0003t0014 a0001c0010t0025	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 others(2): Show a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 a0001c0010t0025g0012	5	40	0.1250	-25	c.74- others(42): Show c.74-17483_74-17459delCACATGGCGCCGTGTCTAGTTCTCT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34916646	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(45): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02148.hp2 HG02257.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03490.hp2 HG03579.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18983.hp2 NA18986.hp2 NA19009.hp2 NA19011.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp2 NA19084.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0009t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0155 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0250 a0001c0002t0001g0030 a0001c0002t0001g0045 a0001c0004t0001g0023 a0001c0004t0001g0240 a0001c0009t0001g0251 a0002c0005t0001g0208	48	62	0.7742	-25	c.-13 others(44): Show c.-134-9234_-134-9210delTAAAATAAAATAAAATAAAATAAAA		DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	1/11						chr1	TogoVar
DLGAP4_chr20_36301339_36533633	36343090	CCCCAGTT others(18): Show CCCCAGTTTGGGCCTTTTCCTAAGTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02630.hp1 others(11): Show HG01081.hp1 HG01891.hp2 HG02630.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp1 HG03225.hp2 HG03471.hp1 NA18522.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0022 a0001c0002t0004 a0001c0005t0026 a0005c0009t0028	a0001c0001t0001g0124 a0001c0001t0004g0134 a0001c0001t0004g0135 others(11): Show a0001c0001t0001g0124 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0006g0086 a0001c0001t0007g0004 a0001c0001t0022g0080 a0001c0002t0004g0087 a0001c0002t0004g0088 a0001c0002t0004g0101 a0001c0002t0004g0143 a0001c0005t0026g0003 a0005c0009t0028g0005	14	142	0.0986	-25	c.-30 others(46): Show c.-303-23951_-303-23927delAGTTTGGGCCTTTTCCTAAGTGCC C		DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36380592	AAAGAGAG others(18): Show AAAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	138	0.0072	-25	c.-73 others(44): Show c.-73+13319_-73+13343delAGAGAGAGAGAGAGAGAGAGAGAGA		DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36525216	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	60	0.0167	-25	c.260 others(42): Show c.2605-621_2605-597delAAAAAAAAAAAAAAAAAAAAAAAAA		DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
DLX4_chr17_49964190_49979959	49976610	TGAGCTCC others(18): Show TGAGCTCCTGGGCAGTGATGGGCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG03098.hp2 others(1): Show HG02809.hp2 HG02970.hp1 HG03098.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	4	402	0.0100	-25	c.26 others(36): Show c.2668_*2692delGAGCTCCTGGGCAGTGATGGGCCTG		DLX4	ENSG00000108813.12	transcript	ENST00000240306.5	protein_coding					1652		chr17	TogoVar
DLX4_chr17_49964190_49979959	49976618	TGGGCAGT others(18): Show TGGGCAGTGATGGGCCTGGAGCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01256.hp1 others(5): Show HG00642.hp2 HG01099.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG02293.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0015g0001 a0001c0001t0001g0001 a0001c0001t0015g0001	8	402	0.0199	-25	c.26 others(36): Show c.2676_*2700delGGGCAGTGATGGGCCTGGAGCTCCC		DLX4	ENSG00000108813.12	transcript	ENST00000240306.5	protein_coding					1660		chr17	TogoVar
DMBT1_chr10_122555754_122648736	122634402	TTTCTTTC others(18): Show TTTCTTTCTTTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02027.hp2 HG02970.hp2 others(3): Show HG00544.hp1 HG02027.hp2 HG02970.hp2 HG04204.hp2 NA19066.hp2 NA19240.hp2	a0001 a0052 a0001 a0052	a0001c0002 a0052c0050 a0001c0002 a0052c0050	a0001c0002t0001 a0001c0002t0004 a0052c0050t0001 a0001c0002t0001 a0001c0002t0004 a0052c0050t0001	a0001c0002t0001g0122 a0001c0002t0004g0127 a0001c0002t0004g0184 others(3): Show a0001c0002t0001g0122 a0001c0002t0004g0127 a0001c0002t0004g0184 a0001c0002t0004g0198 a0001c0002t0004g0238 a0052c0050t0001g0124	6	275	0.0218	-25	c.654 others(44): Show c.6548+1063_6548+1087delTCTTTCTTTCTCTCTCTCTCTCTCT		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	52/55					INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122634411	TTCTCTCT others(18): Show TTCTCTCTCTCTCTCTCTCTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0088 a0011c0012t0001g0088	1	266	0.0038	-25	c.654 others(44): Show c.6548+1090_6548+1114delTCTCTCTCTCTCTCTCTCTCTCTCT		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	52/55					INFO_REALIGN_3_PRIME	chr10	TogoVar
DMD_chrX_31114222_33216549	31187763	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0018 a0003c0008t0018	a0003c0008t0018g0001 a0003c0008t0018g0001	1	126	0.0079	-25	c.980 others(44): Show c.9808-4884_9808-4860delTCTCTCTCTCTCTCTCTCTCTCTCT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	67/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31459178	CATACAGT others(18): Show CATACAGTCTGCTTGCTTGGGGGCAG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0084 a0004c0004t0001g0084	1	126	0.0079	-25	c.893 others(46): Show c.8938-14576_8938-14552delCTGCCCCCAAGCAAGCAGACTGTA T		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31648617	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0029 a0029	a0029c0040 a0029c0040	a0029c0040t0002 a0029c0040t0002	a0029c0040t0002g0062 a0029c0040t0002g0062	1	13	0.0769	-25	c.802 others(44): Show c.8027+9348_8027+9372delTTTTTTTTTTTTTTTTTTTTTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	54/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32136552	TAAACAAA others(18): Show TAAACAAAACAAAACAAAACAAAACA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0008 a0002c0025t0008	a0002c0025t0008g0108 a0002c0025t0008g0108	1	7	0.1429	-25	c.643 others(46): Show c.6438+80339_6438+80363delTGTTTTGTTTTGTTTTGTTTTGTT T		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32280144	GTATATAT others(18): Show GTATATATATATATATATACAGTATA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02056.hp1 HG02083.hp1 others(5): Show HG01934.hp1 HG02056.hp1 HG02083.hp1 HG02293.hp1 HG02738.hp1 HG04199.hp1 NA18965.hp1 NA19005.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0011 a0030	a0001c0002 a0002c0005 a0004c0004 others(5): Show a0001c0002 a0002c0005 a0004c0004 a0005c0022 a0006c0006 a0011c0038 a0011c0046 a0030c0047	a0001c0002t0001 a0002c0005t0001 a0004c0004t0001 others(5): Show a0001c0002t0001 a0002c0005t0001 a0004c0004t0001 a0005c0022t0016 a0006c0006t0001 a0011c0038t0001 a0011c0046t0001 a0030c0047t0013	a0001c0002t0001g0021 a0002c0005t0001g0017 a0004c0004t0001g0084 others(5): Show a0001c0002t0001g0021 a0002c0005t0001g0017 a0004c0004t0001g0084 a0005c0022t0016g0107 a0006c0006t0001g0044 a0011c0038t0001g0045 a0011c0046t0001g0053 a0030c0047t0013g0005	8	107	0.0748	-25	c.629 others(44): Show c.6290+7360_6290+7384delTATACTGTATATATATATATATATA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32335979	TGTTATAT others(18): Show TGTTATATATAACGTGTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(71): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02257.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA18982.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0023 a0028 a0030 a0031 a0033	a0001c0001 a0001c0002 a0001c0021 others(33): Show a0001c0001 a0001c0002 a0001c0021 a0001c0053 a0002c0005 a0002c0009 a0002c0016 a0002c0025 a0002c0051 a0003c0003 a0003c0010 a0004c0004 a0004c0012 a0004c0054 a0005c0007 a0006c0006 a0007c0018 a0008c0011 a0009c0015 a0010c0014 a0011c0038 a0011c0046 a0012c0033 a0013c0059 a0014c0029 a0015c0017 a0016c0041 a0017c0036 a0018c0039 a0019c0032 a0021c0060 a0023c0031 a0028c0028 a0030c0047 a0031c0037 a0033c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0021t0001 a0001c0053t0001 a0002c0005t0001 a0002c0009t0007 a0002c0016t0005 a0002c0025t0008 a0002c0051t0003 a0003c0003t0001 a0003c0003t0002 a0003c0010t0001 a0004c0004t0001 a0004c0012t0001 a0004c0054t0001 a0005c0007t0001 a0005c0007t0002 a0006c0006t0001 a0006c0006t0003 a0007c0018t0001 a0008c0011t0001 a0009c0015t0001 a0010c0014t0001 a0010c0014t0005 a0011c0038t0001 a0011c0046t0001 a0012c0033t0001 a0013c0059t0004 a0014c0029t0001 a0015c0017t0001 a0016c0041t0001 a0017c0036t0001 a0018c0039t0001 a0019c0032t0001 a0021c0060t0001 a0023c0031t0001 a0028c0028t0004 a0030c0047t0013 a0031c0037t0004 a0033c0049t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(71): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0003g0016 a0001c0001t0003g0035 a0001c0001t0006g0097 a0001c0001t0010g0008 a0001c0002t0001g0021 a0001c0002t0001g0047 a0001c0002t0001g0085 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0114 a0001c0002t0002g0052 a0001c0002t0004g0110 a0001c0002t0010g0093 a0001c0021t0001g0032 a0001c0053t0001g0096 a0002c0005t0001g0017 a0002c0009t0007g0018 a0002c0016t0005g0042 a0002c0025t0008g0108 a0002c0051t0003g0091 a0003c0003t0001g0022 a0003c0003t0001g0028 a0003c0003t0001g0060 a0003c0003t0002g0027 a0003c0010t0001g0063 a0004c0004t0001g0002 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0084 a0004c0012t0001g0030 a0004c0012t0001g0064 a0004c0054t0001g0003 a0005c0007t0001g0120 a0005c0007t0002g0089 a0006c0006t0001g0013 a0006c0006t0001g0044 a0006c0006t0003g0026 a0007c0018t0001g0061 a0007c0018t0001g0095 a0008c0011t0001g0039 a0009c0015t0001g0025 a0009c0015t0001g0098 a0010c0014t0001g0014 a0010c0014t0005g0074 a0011c0038t0001g0045 a0011c0046t0001g0053 a0012c0033t0001g0102 a0013c0059t0004g0065 a0014c0029t0001g0092 a0015c0017t0001g0104 a0016c0041t0001g0109 a0017c0036t0001g0049 a0018c0039t0001g0040 a0019c0032t0001g0009 a0021c0060t0001g0113 a0023c0031t0001g0086 a0028c0028t0004g0024 a0030c0047t0013g0005 a0031c0037t0004g0067 a0033c0049t0001g0119	74	124	0.5968	-25	c.592 others(44): Show c.5922+6096_5922+6120delGTTATATATACACGTTATATATAAC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78						chrX	TogoVar
DMPK_chr19_45764717_45787490	45785474	TCCCCTCA others(18): Show TCCCCTCACCCCACGGAGCCAGAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	-25	c.-31 others(36): Show c.-3147_-3123delGCCTCTGGCTCCGTGGGGTGAGGGG		DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding					2985		chr19	TogoVar
DMRTC1B_chrX_72771890_72853803	72840183	AAAAGCAA others(18): Show AAAAGCAAAGCAAAGCAAAGCAAAGC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG01074.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0004 a0001c0001t0017g0008 a0001c0001t0005g0004 a0001c0001t0017g0008	2	3	0.6667	-25	c.-94 others(42): Show c.-94-4820_-94-4796delGCAAAGCAAAGCAAAGCAAAGCAAA		DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chrX	TogoVar

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