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
ABR_chr17_998519_1184981	1057305	GGTTTGTG others(9): Show GGTTTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00609.hp2 others(47): Show HG00140.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01943.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02717.hp2 HG03710.hp2 HG04204.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18962.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18995.hp2 NA18999.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0032 a0001c0001t0033 a0001c0001t0056 a0001c0001t0062 a0001c0001t0073 a0001c0001t0080 a0001c0003t0025 a0002c0005t0001	a0001c0001t0001g0081 a0001c0001t0001g0132 a0001c0001t0001g0156 others(47): Show a0001c0001t0001g0081 a0001c0001t0001g0132 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0002g0052 a0001c0001t0002g0113 a0001c0001t0002g0130 a0001c0001t0002g0143 a0001c0001t0002g0183 a0001c0001t0003g0077 a0001c0001t0003g0208 a0001c0001t0004g0249 a0001c0001t0004g0258 a0001c0001t0004g0264 a0001c0001t0004g0269 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0333 a0001c0001t0005g0271 a0001c0001t0005g0323 a0001c0001t0006g0055 a0001c0001t0006g0117 a0001c0001t0006g0205 a0001c0001t0006g0234 a0001c0001t0007g0334 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0009g0017 a0001c0001t0009g0021 a0001c0001t0009g0033 a0001c0001t0009g0044 a0001c0001t0010g0315 a0001c0001t0012g0092 a0001c0001t0013g0042 a0001c0001t0013g0047 a0001c0001t0013g0048 a0001c0001t0015g0263 a0001c0001t0019g0212 a0001c0001t0021g0273 a0001c0001t0032g0304 a0001c0001t0033g0265 a0001c0001t0056g0175 a0001c0001t0062g0190 a0001c0001t0073g0114 a0001c0001t0080g0253 a0001c0003t0025g0008 a0002c0005t0001g0198	50	143	0.3497	-16	c.138 others(33): Show c.1382-219_1382-204delACACACACACACAAAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1057308	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG03195.hp1 others(1): Show HG02280.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0011 a0001c0002t0091 a0001c0004t0024 others(1): Show a0001c0002t0011 a0001c0002t0091 a0001c0004t0024 a0001c0006t0047	a0001c0002t0011g0108 a0001c0002t0091g0337 a0001c0004t0024g0040 others(1): Show a0001c0002t0011g0108 a0001c0002t0091g0337 a0001c0004t0024g0040 a0001c0006t0047g0228	4	251	0.0159	-16	c.138 others(33): Show c.1382-222_1382-207delCACACACACACACACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1146260	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp2 HG02523.hp1 others(7): Show HG02015.hp2 HG02040.hp2 HG02523.hp1 HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18954.hp2 NA18980.hp1 NA19063.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0001t0077	a0001c0001t0001g0188 a0001c0001t0004g0258 a0001c0001t0004g0301 others(7): Show a0001c0001t0001g0188 a0001c0001t0004g0258 a0001c0001t0004g0301 a0001c0001t0007g0289 a0001c0001t0009g0045 a0001c0001t0013g0042 a0001c0001t0026g0026 a0001c0001t0030g0106 a0001c0001t0033g0328 a0001c0001t0077g0290	10	32	0.3125	-16	c.62- others(33): Show c.62-20909_62-20894delGTGTGTGTGTGTGTGT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1146619	CTGCCACC others(9): Show CTGCCACCACTGCCACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(173): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18970.hp2 NA18979.hp2 NA18983.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0013 a0002c0005 a0003c0008 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0069 a0001c0001t0070 a0001c0001t0083 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0038 a0001c0002t0042 a0001c0002t0053 a0001c0002t0059 a0001c0002t0084 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0024 a0001c0003t0051 a0001c0003t0052 a0001c0003t0054 a0001c0003t0079 a0001c0004t0024 a0001c0004t0037 a0001c0004t0048 a0001c0006t0047 a0001c0007t0003 a0001c0012t0055 a0001c0013t0018 a0002c0005t0001 a0003c0008t0020 a0004c0011t0009	a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0068 others(173): Show a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0191 a0001c0001t0002g0224 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0142 a0001c0001t0003g0208 a0001c0001t0003g0220 a0001c0001t0003g0239 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0264 a0001c0001t0004g0269 a0001c0001t0004g0309 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0317 a0001c0001t0004g0330 a0001c0001t0004g0333 a0001c0001t0005g0270 a0001c0001t0005g0280 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0310 a0001c0001t0005g0321 a0001c0001t0006g0073 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0095 a0001c0001t0006g0117 a0001c0001t0006g0141 a0001c0001t0006g0161 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0234 a0001c0001t0007g0254 a0001c0001t0007g0283 a0001c0001t0007g0318 a0001c0001t0007g0327 a0001c0001t0008g0006 a0001c0001t0008g0011 a0001c0001t0008g0019 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0032 a0001c0001t0009g0017 a0001c0001t0009g0021 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0035 a0001c0001t0009g0044 a0001c0001t0009g0049 a0001c0001t0010g0261 a0001c0001t0010g0262 a0001c0001t0010g0294 a0001c0001t0010g0300 a0001c0001t0010g0311 a0001c0001t0011g0124 a0001c0001t0011g0166 a0001c0001t0011g0233 a0001c0001t0011g0238 a0001c0001t0012g0184 a0001c0001t0013g0027 a0001c0001t0014g0096 a0001c0001t0014g0102 a0001c0001t0014g0243 a0001c0001t0015g0263 a0001c0001t0017g0112 a0001c0001t0017g0226 a0001c0001t0018g0110 a0001c0001t0020g0135 a0001c0001t0020g0160 a0001c0001t0022g0030 a0001c0001t0026g0029 a0001c0001t0027g0038 a0001c0001t0028g0122 a0001c0001t0029g0178 a0001c0001t0032g0260 a0001c0001t0034g0002 a0001c0001t0035g0013 a0001c0001t0040g0001 a0001c0001t0041g0014 a0001c0001t0043g0007 a0001c0001t0045g0248 a0001c0001t0046g0153 a0001c0001t0050g0133 a0001c0001t0060g0148 a0001c0001t0063g0240 a0001c0001t0064g0136 a0001c0001t0065g0237 a0001c0001t0069g0214 a0001c0001t0070g0186 a0001c0001t0083g0331 a0001c0001t0085g0302 a0001c0001t0087g0296 a0001c0001t0088g0332 a0001c0001t0089g0297 a0001c0001t0090g0287 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0109 a0001c0002t0002g0065 a0001c0002t0005g0306 a0001c0002t0007g0295 a0001c0002t0038g0012 a0001c0002t0042g0015 a0001c0002t0053g0069 a0001c0002t0059g0235 a0001c0002t0084g0329 a0001c0003t0016g0221 a0001c0003t0016g0230 a0001c0003t0017g0119 a0001c0003t0021g0277 a0001c0003t0024g0039 a0001c0003t0051g0105 a0001c0003t0052g0216 a0001c0003t0054g0232 a0001c0003t0079g0288 a0001c0004t0024g0040 a0001c0004t0037g0016 a0001c0004t0048g0199 a0001c0006t0047g0228 a0001c0007t0003g0139 a0001c0012t0055g0236 a0001c0013t0018g0107 a0002c0005t0001g0187 a0002c0005t0001g0198 a0003c0008t0020g0131 a0004c0011t0009g0028	176	336	0.5238	-16	c.62- others(33): Show c.62-21268_62-21253delTGTGGCAGTGGTGGCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1181401	CTGCAGCA others(9): Show CTGCAGCAGAAGTGGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	336	0.0030	-16	c.-16 others(27): Show c.-1690_-1675delAACCACTTCTGCTGCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		1421		chr17	TogoVar
ABT1_chr6_26591953_26605739	26604782	GTAAATGT others(9): Show GTAAATGTCTATTATTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	408	0.0025	-16	c.61 others(27): Show c.6138_*6153delTAAATGTCTATTATTT	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding		4044		chr6	TogoVar
ABTB1_chr3_127667952_127685926	127668101	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA18949.hp1 NA19082.hp2 HG02717.hp2 NA18949.hp1 NA19082.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0005 a0001c0006t0001 a0001c0006t0005	a0001c0006t0001g0028 a0001c0006t0001g0038 a0001c0006t0005g0028 a0001c0006t0001g0028 a0001c0006t0001g0038 a0001c0006t0005g0028	3	100	0.0300	-16	c.-49 others(27): Show c.-4924_-4909delGTGTGTGTGTGTGTGT	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding		4850		chr3	TogoVar
ABTB1_chr3_127667952_127685926	127685168	CCCAGGCT others(9): Show CCCAGGCTGTGCTGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 NA20905.hp1 HG03704.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0017t0001 a0001c0002t0001 a0001c0017t0001	a0001c0002t0001g0012 a0001c0017t0001g0012 a0001c0002t0001g0012 a0001c0017t0001g0012	2	438	0.0046	-16	c.46 others(27): Show c.4694_*4709delCCAGGCTGTGCTGGCG	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding		4243		chr3	TogoVar
ABTB2_chr11_34145987_34363010	34271734	AATACATA others(9): Show AATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02559.hp1 others(4): Show HG00642.hp1 HG01884.hp1 HG02559.hp1 HG02630.hp2 HG03471.hp2 HG03486.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0005t0004 a0004c0006t0012	a0001c0001t0001g0092 a0001c0001t0001g0151 a0001c0001t0005g0071 others(4): Show a0001c0001t0001g0092 a0001c0001t0001g0151 a0001c0001t0005g0071 a0001c0004t0001g0098 a0001c0004t0001g0135 a0001c0005t0004g0142 a0004c0006t0012g0244	7	142	0.0493	-16	c.884 others(35): Show c.884-67060_884-67045delGTATGTATGTATGTAT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34288539	ACAGAACA others(9): Show ACAGAACAGACAGAGCC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp2 others(14): Show HG00323.hp2 HG00438.hp1 HG00544.hp2 HG01106.hp2 HG01515.hp2 HG01517.hp1 HG02004.hp1 HG02071.hp2 HG02132.hp1 HG02155.hp2 HG02683.hp1 HG03669.hp1 NA18968.hp1 NA19057.hp2 NA19060.hp1 NA19079.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0017 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0003g0167 a0001c0001t0003g0171 a0002c0002t0002g0207 a0002c0002t0002g0216 a0002c0002t0002g0232	17	244	0.0697	-16	c.883 others(35): Show c.883+68146_883+68161delGGCTCTGTCTGTTCTG	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107384207	CAGGGAGG others(9): Show CAGGGAGGTAGAAACCA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02965.hp1 HG03130.hp1 HG02698.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0001 a0001c0001t0002 a0001c0030t0002 a0001c0001t0001 a0001c0001t0002 a0001c0030t0002	a0001c0001t0001g0008 a0001c0001t0002g0042 a0001c0030t0002g0104 a0001c0001t0001g0008 a0001c0001t0002g0042 a0001c0030t0002g0104	3	186	0.0161	-16	c.113 others(37): Show c.1135+64134_1135+64149delGGGAGGTAGAAACCAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107464206	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01081.hp1 others(28): Show HG00423.hp1 HG00621.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp2 HG02135.hp2 HG02257.hp1 HG02280.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03225.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03942.hp1 NA18747.hp2 NA18942.hp2 NA18981.hp2 NA18989.hp2 NA19087.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0012	a0001c0001 a0001c0012 a0002c0002 others(8): Show a0001c0001 a0001c0012 a0002c0002 a0003c0004 a0003c0006 a0003c0008 a0004c0005 a0005c0007 a0008c0013 a0009c0019 a0012c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0028 a0001c0012t0004 a0001c0012t0027 a0002c0002t0036 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0022 a0003c0006t0002 a0003c0006t0005 a0003c0008t0001 a0004c0005t0008 a0004c0005t0009 a0004c0005t0013 a0005c0007t0001 a0008c0013t0008 a0009c0019t0008 a0012c0024t0001	a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0002g0082 others(28): Show a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0002g0082 a0001c0001t0006g0089 a0001c0001t0006g0102 a0001c0001t0028g0069 a0001c0012t0004g0039 a0001c0012t0027g0023 a0002c0002t0036g0170 a0003c0004t0001g0022 a0003c0004t0001g0024 a0003c0004t0002g0076 a0003c0004t0003g0035 a0003c0004t0003g0165 a0003c0004t0004g0003 a0003c0004t0022g0041 a0003c0006t0002g0129 a0003c0006t0005g0132 a0003c0006t0005g0144 a0003c0006t0005g0149 a0003c0008t0001g0021 a0003c0008t0001g0064 a0004c0005t0008g0012 a0004c0005t0009g0094 a0004c0005t0009g0097 a0004c0005t0009g0103 a0004c0005t0013g0163 a0005c0007t0001g0122 a0008c0013t0008g0058 a0009c0019t0008g0020 a0012c0024t0001g0019	31	38	0.8158	-16	c.113 others(37): Show c.1136-56242_1136-56227delGTGTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469942	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0032 a0007c0032	a0007c0032t0008 a0007c0032t0008	a0007c0032t0008g0160 a0007c0032t0008g0160	1	159	0.0063	-16	c.113 others(37): Show c.1136-50489_1136-50474delTTCTTTCTTTCTTTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107481883	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02451.hp1 HG02135.hp2 HG02451.hp1	a0002 a0005 a0002 a0005	a0002c0018 a0005c0007 a0002c0018 a0005c0007	a0002c0018t0020 a0005c0007t0001 a0002c0018t0020 a0005c0007t0001	a0002c0018t0020g0168 a0005c0007t0001g0122 a0002c0018t0020g0168 a0005c0007t0001g0122	2	18	0.1111	-16	c.113 others(37): Show c.1136-38574_1136-38559delCTCTCTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482913	CTTCTTTC others(9): Show CTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19002.hp1 HG03225.hp2 NA19002.hp1	a0005 a0007 a0005 a0007	a0005c0007 a0007c0014 a0005c0007 a0007c0014	a0005c0007t0003 a0007c0014t0008 a0005c0007t0003 a0007c0014t0008	a0005c0007t0003g0113 a0007c0014t0008g0126 a0005c0007t0003g0113 a0007c0014t0008g0126	2	165	0.0121	-16	c.113 others(37): Show c.1136-37514_1136-37499delTTTCTTTCTTTCTTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482973	TTTCTTTC others(9): Show TTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(12): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01993.hp2 HG02155.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp2 NA18747.hp1 NA18946.hp2 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0009 a0002c0015 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0005 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0018 a0002c0009t0001 a0002c0015t0001 a0005c0007t0007	a0001c0001t0001g0070 a0001c0001t0002g0084 a0001c0001t0002g0085 others(12): Show a0001c0001t0001g0070 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0006g0074 a0001c0003t0005g0136 a0002c0002t0004g0044 a0002c0002t0007g0175 a0002c0002t0007g0179 a0002c0002t0010g0181 a0002c0002t0012g0177 a0002c0002t0018g0183 a0002c0009t0001g0052 a0002c0015t0001g0043 a0005c0007t0007g0169	15	174	0.0862	-16	c.113 others(37): Show c.1136-37510_1136-37495delTTTCTTTCTTTCCTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482977	TTTCTTTC others(9): Show TTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02738.hp1 HG02965.hp2 others(3): Show HG02486.hp1 HG02738.hp1 HG02965.hp2 HG03540.hp1 NA19090.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0003 a0002c0002 a0003c0008 others(2): Show a0001c0003 a0002c0002 a0003c0008 a0004c0005 a0006c0010	a0001c0003t0005 a0002c0002t0004 a0003c0008t0011 others(3): Show a0001c0003t0005 a0002c0002t0004 a0003c0008t0011 a0004c0005t0013 a0006c0010t0003 a0006c0010t0005	a0001c0003t0005g0133 a0002c0002t0004g0046 a0003c0008t0011g0153 others(3): Show a0001c0003t0005g0133 a0002c0002t0004g0046 a0003c0008t0011g0153 a0004c0005t0013g0018 a0006c0010t0003g0162 a0006c0010t0005g0150	6	165	0.0364	-16	c.113 others(37): Show c.1136-37506_1136-37491delTTTCTTTCCTTCCTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482985	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02965.hp1 HG00609.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0042 a0002c0002t0001g0128 a0001c0001t0002g0042 a0002c0002t0001g0128	2	151	0.0132	-16	c.113 others(37): Show c.1136-37494_1136-37479delCTTCCTTCCTTCCTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49801785	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02615.hp2 others(2): Show HG02055.hp1 HG02257.hp2 HG02615.hp2 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0027 a0001c0001t0028 a0001c0001t0013 a0001c0001t0027 a0001c0001t0028	a0001c0001t0013g0036 a0001c0001t0013g0191 a0001c0001t0027g0168 others(1): Show a0001c0001t0013g0036 a0001c0001t0013g0191 a0001c0001t0027g0168 a0001c0001t0028g0169	5	51	0.0980	-16	c.183 others(31): Show c.183+886_183+901delATATATATATATATAT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37119589	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01106.hp1 others(2): Show HG00323.hp2 HG00558.hp1 HG01106.hp1 HG01109.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0012 a0001c0002t0001 a0001c0003t0001 a0001c0003t0012	a0001c0002t0001g0186 a0001c0003t0001g0059 a0001c0003t0001g0107 others(2): Show a0001c0002t0001g0186 a0001c0003t0001g0059 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0012g0073	5	40	0.1250	-16	c.627 others(35): Show c.6274+1750_6274+1765delGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37230387	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG03041.hp2 others(3): Show HG01891.hp1 HG02622.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0082 others(3): Show a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0082 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0017g0002	6	74	0.0811	-16	c.324 others(35): Show c.3247-3951_3247-3936delATTTATTTATTTATTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	25/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268713	ATATCTAT others(9): Show ATATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00735.hp1 others(16): Show HG00099.hp2 HG00438.hp2 HG00735.hp1 HG01361.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG03098.hp1 HG03516.hp1 NA18747.hp2 NA18906.hp1 NA18973.hp2 NA18979.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19011.hp1 NA19056.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0026	a0001c0001t0001g0096 a0001c0001t0001g0177 a0001c0001t0001g0194 others(16): Show a0001c0001t0001g0096 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0007 a0001c0001t0007g0275 a0001c0001t0009g0027 a0001c0001t0011g0048 a0001c0001t0011g0095 a0001c0001t0015g0204 a0001c0001t0015g0235 a0001c0001t0026g0291	19	279	0.0681	-16	c.111 others(35): Show c.1119+2022_1119+2037delGATAGATAGATAGATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37370478	CTCTACTA others(9): Show CTCTACTAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	298	0.0034	-16	c.39- others(33): Show c.39-30644_39-30629delTTTTTTTTTTAGTAGA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390140	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02451.hp2 others(6): Show HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02970.hp2 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0031 a0001c0004t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0096 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0096 a0001c0001t0003g0045 a0001c0001t0010g0094 a0001c0001t0011g0048 a0001c0001t0011g0095 a0001c0001t0031g0296 a0001c0004t0005g0044	9	144	0.0625	-16	c.38+ others(33): Show c.38+16106_38+16121delTATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109140256	ATCCTTCC others(9): Show ATCCTTCCTTCCTTCTT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02109.hp2 HG02486.hp2 others(4): Show HG02074.hp2 HG02109.hp2 HG02486.hp2 HG03453.hp1 HG04184.hp1 NA18612.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0003 a0001c0016 a0001c0029 others(4): Show a0001c0003 a0001c0016 a0001c0029 a0002c0014 a0002c0024 a0004c0112 a0007c0030	a0001c0003t0004 a0001c0016t0009 a0001c0029t0002 others(4): Show a0001c0003t0004 a0001c0016t0009 a0001c0029t0002 a0002c0014t0003 a0002c0024t0003 a0004c0112t0001 a0007c0030t0004	a0001c0003t0004g0298 a0001c0016t0009g0288 a0001c0029t0002g0104 others(4): Show a0001c0003t0004g0298 a0001c0016t0009g0288 a0001c0029t0002g0104 a0002c0014t0003g0083 a0002c0024t0003g0036 a0004c0112t0001g0119 a0007c0030t0004g0278	7	225	0.0311	-16	c.653 others(31): Show c.653+213_653+228delTTTCCTTCCTTCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140271	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00609.hp2 others(34): Show HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00741.hp2 HG01106.hp1 HG01168.hp2 HG01192.hp2 HG01433.hp1 HG01515.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02622.hp1 HG02738.hp2 HG02897.hp1 HG03654.hp2 HG04199.hp1 NA18747.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18959.hp2 NA18966.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18988.hp2 NA18993.hp1 NA18998.hp1 NA19004.hp1 NA19009.hp1 NA19057.hp1 NA19063.hp2 NA19074.hp2 NA19084.hp2 NA19240.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0011 a0013 a0016 a0033	a0001c0012 a0001c0013 a0001c0039 others(12): Show a0001c0012 a0001c0013 a0001c0039 a0002c0021 a0002c0053 a0002c0088 a0003c0001 a0003c0005 a0003c0081 a0005c0019 a0006c0122 a0011c0027 a0013c0079 a0016c0047 a0033c0082	a0001c0012t0002 a0001c0013t0001 a0001c0039t0004 others(15): Show a0001c0012t0002 a0001c0013t0001 a0001c0039t0004 a0002c0021t0003 a0002c0053t0005 a0002c0088t0006 a0003c0001t0001 a0003c0001t0004 a0003c0005t0002 a0003c0081t0002 a0005c0019t0003 a0005c0019t0006 a0006c0122t0004 a0011c0027t0004 a0011c0027t0013 a0013c0079t0004 a0016c0047t0002 a0033c0082t0002	a0001c0012t0002g0045 a0001c0012t0002g0248 a0001c0012t0002g0250 others(34): Show a0001c0012t0002g0045 a0001c0012t0002g0248 a0001c0012t0002g0250 a0001c0012t0002g0257 a0001c0013t0001g0159 a0001c0013t0001g0237 a0001c0013t0001g0247 a0001c0039t0004g0037 a0002c0021t0003g0251 a0002c0021t0003g0252 a0002c0053t0005g0033 a0002c0088t0006g0245 a0003c0001t0001g0137 a0003c0001t0001g0138 a0003c0001t0001g0140 a0003c0001t0001g0147 a0003c0001t0001g0148 a0003c0001t0001g0149 a0003c0001t0001g0151 a0003c0001t0001g0154 a0003c0001t0001g0158 a0003c0001t0001g0178 a0003c0001t0001g0264 a0003c0001t0004g0146 a0003c0005t0002g0059 a0003c0005t0002g0064 a0003c0005t0002g0240 a0003c0005t0002g0262 a0003c0081t0002g0230 a0005c0019t0003g0135 a0005c0019t0006g0076 a0006c0122t0004g0173 a0011c0027t0004g0249 a0011c0027t0013g0065 a0013c0079t0004g0180 a0016c0047t0002g0175 a0033c0082t0002g0127	37	172	0.2151	-16	c.653 others(31): Show c.653+278_653+293delTTCCTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109164822	ATTCTCCC others(9): Show ATTCTCCCTCCTCGGCT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01884.hp1 others(8): Show HG01074.hp1 HG01175.hp1 HG01884.hp1 HG01943.hp1 HG02717.hp1 HG02723.hp2 HG03239.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA20905.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0014 a0019	a0001c0010 a0001c0050 a0001c0069 others(6): Show a0001c0010 a0001c0050 a0001c0069 a0001c0109 a0001c0111 a0002c0110 a0006c0113 a0014c0114 a0019c0123	a0001c0010t0001 a0001c0010t0009 a0001c0050t0001 others(7): Show a0001c0010t0001 a0001c0010t0009 a0001c0050t0001 a0001c0069t0002 a0001c0109t0002 a0001c0111t0001 a0002c0110t0003 a0006c0113t0004 a0014c0114t0004 a0019c0123t0015	a0001c0010t0001g0187 a0001c0010t0009g0188 a0001c0050t0001g0274 others(8): Show a0001c0010t0001g0187 a0001c0010t0009g0188 a0001c0050t0001g0274 a0001c0050t0001g0276 a0001c0069t0002g0204 a0001c0109t0002g0275 a0001c0111t0001g0273 a0002c0110t0003g0266 a0006c0113t0004g0031 a0014c0114t0004g0010 a0019c0123t0015g0058	11	306	0.0359	-16	c.654 others(33): Show c.654-2035_654-2020delTCCCTCCTCGGCTTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109167621	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18906.hp1 HG01884.hp1 NA18906.hp1	a0001 a0019 a0001 a0019	a0001c0069 a0019c0123 a0001c0069 a0019c0123	a0001c0069t0002 a0019c0123t0015 a0001c0069t0002 a0019c0123t0015	a0001c0069t0002g0204 a0019c0123t0015g0058 a0001c0069t0002g0204 a0019c0123t0015g0058	2	93	0.0215	-16	c.787 others(31): Show c.787-257_787-242delATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109188171	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG02109.hp1 others(23): Show HG01109.hp2 HG01167.hp2 HG02109.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03834.hp1 NA18906.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0008 a0013	a0001c0002 a0001c0029 a0001c0039 others(16): Show a0001c0002 a0001c0029 a0001c0039 a0001c0048 a0001c0049 a0001c0058 a0001c0060 a0001c0062 a0001c0069 a0001c0098 a0002c0043 a0006c0031 a0006c0120 a0006c0121 a0006c0122 a0007c0030 a0008c0015 a0008c0044 a0013c0077	a0001c0002t0001 a0001c0029t0002 a0001c0039t0004 others(17): Show a0001c0002t0001 a0001c0029t0002 a0001c0039t0004 a0001c0048t0004 a0001c0049t0001 a0001c0058t0016 a0001c0060t0002 a0001c0062t0019 a0001c0069t0002 a0001c0098t0001 a0002c0043t0003 a0006c0031t0004 a0006c0031t0013 a0006c0120t0003 a0006c0121t0004 a0006c0122t0004 a0007c0030t0004 a0008c0015t0005 a0008c0044t0025 a0013c0077t0004	a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0029t0002g0104 others(23): Show a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0029t0002g0104 a0001c0039t0004g0037 a0001c0048t0004g0305 a0001c0049t0001g0283 a0001c0058t0016g0186 a0001c0060t0002g0270 a0001c0062t0019g0286 a0001c0069t0002g0204 a0001c0098t0001g0285 a0002c0043t0003g0046 a0006c0031t0004g0003 a0006c0031t0004g0206 a0006c0031t0013g0205 a0006c0120t0003g0043 a0006c0121t0004g0170 a0006c0122t0004g0173 a0007c0030t0004g0278 a0007c0030t0004g0284 a0008c0015t0005g0167 a0008c0015t0005g0168 a0008c0015t0005g0169 a0008c0015t0005g0172 a0008c0044t0025g0166 a0013c0077t0004g0118	26	89	0.2921	-16	c.214 others(31): Show c.2144+57_2144+72delTTCCTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	13/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0038 a0002c0007t0003g0042 a0002c0007t0003g0038 a0002c0007t0003g0042	2	26	0.0769	-16	c.678 others(33): Show c.6787+499_6787+514delATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111718036	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	63	0.1270	-16	c.992 others(33): Show c.992+2090_992+2105delTTTTTTTTTTTTTTTT	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111761305	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	334	0.0240	-16	c.48 others(27): Show c.4833_*4848delTGTGTGTGTGTGTGTA	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding		4207		chr12	TogoVar
ACADM_chr1_75719709_75768679	75737279	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03130.hp1 HG01256.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0223 a0001c0001t0004g0097 a0001c0001t0002g0223 a0001c0001t0004g0097	2	102	0.0196	-16	c.468 others(33): Show c.468+2441_468+2456delATATATATATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75760544	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02257.hp2 others(12): Show HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 NA18906.hp1 NA18982.hp1 NA19043.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0001 a0001c0003t0008	a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0003t0001g0098 others(12): Show a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0008g0281	15	36	0.4167	-16	c.946 others(31): Show c.946-557_946-542delAAAAAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAP1_chr17_7331529_7356477	7350395	GCTGCGCG others(9): Show GCTGCGCGAAGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	444	0.0023	-16	c.207 others(33): Show c.2072+162_2072+177delCGCGAAGTGTGCACTG	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
ACAP2_chr3_195269745_195448020	195290837	TAAATAAA others(9): Show TAAATAAATAAATAATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show HG00438.hp2 HG00558.hp2 HG00673.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18974.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19078.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0001c0002t0025 a0001c0002t0035	a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 others(35): Show a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0205 a0001c0002t0004g0319 a0001c0002t0015g0029 a0001c0002t0015g0038 a0001c0002t0015g0039 a0001c0002t0025g0037 a0001c0002t0035g0057	38	322	0.1180	-16	c.206 others(33): Show c.2063+853_2063+868delTATTATTTATTTATTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	20/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195300034	CTTTTTTT others(9): Show CTTTTTTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0026	1	186	0.0054	-16	c.139 others(35): Show c.1395+1525_1395+1540delAAAAAAGAAAAAAAAA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	15/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288302	TGCTCCGT others(9): Show TGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02622.hp2 HG02922.hp2 others(1): Show HG00323.hp1 HG02622.hp2 HG02922.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0002g0129 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0002g0129 a0003c0004t0001g0208	4	285	0.0140	-16	c.52 others(27): Show c.5246_*5261delGGACACGGGACGGAGC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4088		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288311	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	294	0.0034	-16	c.52 others(27): Show c.5237_*5252delACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4079		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288367	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03579.hp2 HG02055.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0006 a0001c0001t0001 a0001c0023t0006	a0001c0001t0001g0210 a0001c0023t0006g0211 a0001c0001t0001g0210 a0001c0023t0006g0211	2	294	0.0068	-16	c.51 others(27): Show c.5181_*5196delACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4023		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288403	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	293	0.0034	-16	c.51 others(27): Show c.5145_*5160delACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3987		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288421	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA19066.hp2 HG03579.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0065 a0001c0001t0002g0004 a0001c0001t0001g0065 a0001c0001t0002g0004	2	294	0.0068	-16	c.51 others(27): Show c.5127_*5142delACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3969		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288477	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	293	0.0034	-16	c.50 others(27): Show c.5071_*5086delACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3913		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288495	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03209.hp2 NA19004.hp1 HG02922.hp1 HG03209.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0001g0103 a0001c0001t0002g0011 a0001c0001t0001g0067 a0001c0001t0001g0103 a0001c0001t0002g0011	3	294	0.0102	-16	c.50 others(27): Show c.5053_*5068delACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3895		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288513	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02922.hp2 HG02615.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0006 a0001c0001t0001 a0001c0024t0006	a0001c0001t0001g0047 a0001c0024t0006g0070 a0001c0001t0001g0047 a0001c0024t0006g0070	2	294	0.0068	-16	c.50 others(27): Show c.5035_*5050delACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3877		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288647	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	294	0.0034	-16	c.49 others(27): Show c.4901_*4916delACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3743		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288665	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03540.hp1 HG02630.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0095 a0001c0002t0001g0074 a0001c0002t0001g0095	2	292	0.0068	-16	c.48 others(27): Show c.4883_*4898delACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3725		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288757	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 NA18967.hp2 HG02896.hp1 HG02897.hp1 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091	3	287	0.0105	-16	c.47 others(27): Show c.4791_*4806delACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3633		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288869	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19067.hp1 NA18964.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0077 a0001c0002t0001g0078	2	291	0.0069	-16	c.46 others(27): Show c.4679_*4694delACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3521		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288981	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18955.hp2 HG00438.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0136 a0001c0001t0001g0013 a0001c0001t0002g0136	2	294	0.0068	-16	c.45 others(27): Show c.4567_*4582delACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3409		chr1	TogoVar

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