JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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	status	chr	external
LURAP1L_chr9_12770020_12828060	12775862	T T	TGGC TGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02559.hp2 HG02572.hp2 HG02965.hp2 others(3): Show HG02559.hp2 HG02572.hp2 HG02965.hp2 HG03209.hp1 HG06807.hp1 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0017 a0004c0004t0001 a0004c0004t0002 a0004c0004t0017	a0004c0004t0001g0386 a0004c0004t0001g0409 a0004c0004t0001g0412 others(3): Show a0004c0004t0001g0386 a0004c0004t0001g0409 a0004c0004t0001g0412 a0004c0004t0002g0397 a0004c0004t0002g0407 a0004c0004t0017g0416	6	418	0.0144	3	c.163 others(10): Show c.163_165dupGGC	p.Gly others(5): Show p.Gly55dup	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/2	862/2683	166/687	56/228	INFO_REALIGN_3_PRIME	chr9	TogoVar
LURAP1L_chr9_12770020_12828060	12775862	T T	TGGCGGC TGGCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp2 HG00738.hp1 others(14): Show HG00099.hp2 HG00280.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01243.hp2 HG01346.hp1 HG01361.hp2 HG02145.hp1 HG02258.hp2 HG02717.hp1 HG02818.hp1 HG03098.hp1 HG03486.hp2 NA18906.hp1 NA18906.hp2 NA20129.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0008 a0003c0003 a0007c0008	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(3): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0009 a0007c0008t0001 a0007c0008t0028	a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0007 others(14): Show a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0041 a0003c0003t0001g0141 a0003c0003t0001g0144 a0003c0003t0001g0265 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0375 a0003c0003t0002g0142 a0003c0003t0002g0280 a0003c0003t0002g0368 a0003c0003t0003g0122 a0003c0003t0009g0335 a0007c0008t0001g0312 a0007c0008t0028g0140	17	418	0.0407	6	c.160 others(13): Show c.160_165dupGGCGGC	p.Gly others(11): Show p.Gly54_Gly55dup	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/2	862/2683	166/687	56/228	INFO_REALIGN_3_PRIME	chr9	TogoVar
LURAP1L_chr9_12770020_12828060	12775862	T T	TGGCGGCG others(2): Show TGGCGGCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(278): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0001c0012 a0005c0006 others(1): Show a0001c0001 a0001c0012 a0005c0006 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0012t0002 a0005c0006t0001 a0011c0014t0002	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 others(278): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0352 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0001g0379 a0001c0001t0001g0384 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0395 a0001c0001t0001g0396 a0001c0001t0001g0399 a0001c0001t0001g0403 a0001c0001t0001g0404 a0001c0001t0001g0408 a0001c0001t0001g0411 a0001c0001t0001g0415 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0332 a0001c0001t0002g0380 a0001c0001t0002g0382 a0001c0001t0002g0390 a0001c0001t0002g0391 a0001c0001t0002g0393 a0001c0001t0002g0394 a0001c0001t0002g0398 a0001c0001t0002g0400 a0001c0001t0002g0401 a0001c0001t0002g0402 a0001c0001t0002g0410 a0001c0001t0002g0413 a0001c0001t0003g0032 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0168 a0001c0001t0003g0176 a0001c0001t0003g0202 a0001c0001t0003g0213 a0001c0001t0003g0228 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0246 a0001c0001t0003g0259 a0001c0001t0003g0336 a0001c0001t0003g0381 a0001c0001t0003g0385 a0001c0001t0003g0389 a0001c0001t0003g0392 a0001c0001t0003g0405 a0001c0001t0004g0261 a0001c0001t0004g0266 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0281 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0308 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0006g0117 a0001c0001t0006g0247 a0001c0001t0006g0383 a0001c0001t0007g0282 a0001c0001t0007g0304 a0001c0001t0007g0305 a0001c0001t0007g0309 a0001c0001t0008g0072 a0001c0001t0008g0081 a0001c0001t0008g0154 a0001c0001t0008g0255 a0001c0001t0009g0318 a0001c0001t0009g0414 a0001c0001t0010g0089 a0001c0001t0010g0210 a0001c0001t0010g0239 a0001c0001t0011g0067 a0001c0001t0011g0286 a0001c0001t0011g0289 a0001c0001t0012g0267 a0001c0001t0012g0273 a0001c0001t0012g0306 a0001c0001t0013g0279 a0001c0001t0013g0295 a0001c0001t0013g0313 a0001c0001t0015g0029 a0001c0001t0019g0260 a0001c0001t0020g0269 a0001c0001t0021g0268 a0001c0001t0022g0417 a0001c0001t0023g0206 a0001c0001t0025g0264 a0001c0001t0026g0073 a0001c0001t0027g0148 a0001c0012t0002g0236 a0005c0006t0001g0023 a0005c0006t0001g0035 a0005c0006t0001g0051 a0011c0014t0002g0406	281	418	0.6723	9	c.157 others(16): Show c.157_165dupGGCGGCGGC	p.Gly others(11): Show p.Gly53_Gly55dup	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/2	862/2683	166/687	56/228	INFO_REALIGN_3_PRIME	chr9	TogoVar
LURAP1L_chr9_12770020_12828060	12775862	T T	TGGCGGCG others(5): Show TGGCGGCGGCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19076.hp1 NA19076.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0107 a0009c0011t0002g0107	1	418	0.0024	12	c.154 others(19): Show c.154_165dupGGCGGCGGCGGC	p.Gly others(11): Show p.Gly52_Gly55dup	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/2	862/2683	166/687	56/228	INFO_REALIGN_3_PRIME	chr9	TogoVar
LURAP1L_chr9_12770020_12828060	12775862	T T	TGGCGGCG others(8): Show TGGCGGCGGCGGCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03834.hp2 HG03834.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0109 a0010c0010t0002g0109	1	418	0.0024	15	c.151 others(22): Show c.151_165dupGGCGGCGGCGGCGGC	p.Gly others(11): Show p.Gly51_Gly55dup	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/2	862/2683	166/687	56/228	INFO_REALIGN_3_PRIME	chr9	TogoVar
LUZP4_chrX_115284715_115312563	115306686	T T	TCACTCAG others(14): Show TCACTCAGAGAGATCTCGTGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01071.hp2 HG01071.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0064 a0005c0007t0001g0064	1	280	0.0036	21	c.829 others(28): Show c.829_849dupCAGAGAGATCTCGTGGCCACT	p.Gln others(13): Show p.Gln277_Thr283dup	LUZP4	ENSG00000102021.11	transcript	ENST00000371920.4	protein_coding	4/4	895/1746	850/942	284/313	INFO_REALIGN_3_PRIME	chrX	TogoVar
LY6H_chr8_143152916_143165321	143158329	C C	CTGTTTGG others(35): Show CTGTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19066.hp2 NA19066.hp2	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0001 a0000c0006t0001	a0000c0006t0001g0021 a0000c0006t0001g0021	1	443	0.0023	42	c.406 others(49): Show c.406_407insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA AACA	p.Gly others(54): Show p.Gly136delinsAlaProProProProProProProProProProPro ProAsnArg	LY6H	ENSG00000176956.13	transcript	ENST00000342752.9	protein_coding	4/4	528/942	406/486	136/161		chr8	TogoVar
MADCAM1_chr19_491486_510343	501682	G G	GACCTCCC others(17): Show GACCTCCCCGGAGCCTCCCAACACC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(46): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00733.hp1 HG00735.hp2 HG01167.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02080.hp1 HG02132.hp1 HG02293.hp2 HG02602.hp2 HG02698.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18945.hp1 NA18959.hp1 NA18979.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19058.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0003 a0015 a0003 a0015	a0003c0002 a0003c0041 a0015c0020 a0003c0002 a0003c0041 a0015c0020	a0003c0002t0001 a0003c0002t0002 a0003c0041t0001 others(1): Show a0003c0002t0001 a0003c0002t0002 a0003c0041t0001 a0015c0020t0001	a0003c0002t0001g0002 a0003c0002t0001g0007 a0003c0002t0001g0013 others(27): Show a0003c0002t0001g0002 a0003c0002t0001g0007 a0003c0002t0001g0013 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0024 a0003c0002t0001g0045 a0003c0002t0001g0047 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0050 a0003c0002t0001g0053 a0003c0002t0001g0054 a0003c0002t0001g0055 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0062 a0003c0002t0001g0097 a0003c0002t0001g0108 a0003c0002t0001g0167 a0003c0002t0002g0014 a0003c0002t0002g0023 a0003c0002t0002g0051 a0003c0002t0002g0052 a0003c0002t0002g0056 a0003c0002t0002g0095 a0003c0041t0001g0104 a0015c0020t0001g0025 a0015c0020t0001g0057	49	364	0.1346	24	c.699 others(31): Show c.699_700insAACACCACCTCCCCGGAGCCTCCC	p.Pro others(37): Show p.Pro233_Asp234insAsnThrThrSerProGluProPro	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	714/1541	700/1149	234/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501701	G G	GACACCAC others(17): Show GACACCACCTCCCCGGAGCCTCCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(90): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18946.hp1 NA18952.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp2 NA19059.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0010 others(6): Show a0002 a0008 a0010 a0014 a0017 a0018 a0022 a0023 a0025	a0002c0004 a0002c0005 a0002c0013 others(13): Show a0002c0004 a0002c0005 a0002c0013 a0002c0014 a0002c0032 a0002c0037 a0002c0043 a0008c0008 a0010c0017 a0010c0038 a0014c0021 a0017c0027 a0018c0025 a0022c0040 a0023c0039 a0025c0042	a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 others(16): Show a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0013t0002 a0002c0014t0001 a0002c0014t0002 a0002c0032t0001 a0002c0037t0001 a0002c0043t0001 a0008c0008t0001 a0010c0017t0001 a0010c0038t0002 a0014c0021t0001 a0014c0021t0002 a0017c0027t0001 a0018c0025t0001 a0022c0040t0001 a0023c0039t0001 a0025c0042t0001	a0002c0004t0001g0004 a0002c0004t0001g0006 a0002c0004t0001g0030 others(68): Show a0002c0004t0001g0004 a0002c0004t0001g0006 a0002c0004t0001g0030 a0002c0004t0001g0082 a0002c0004t0001g0117 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0128 a0002c0004t0001g0142 a0002c0004t0001g0145 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0161 a0002c0004t0001g0162 a0002c0004t0001g0163 a0002c0004t0001g0166 a0002c0004t0001g0263 a0002c0005t0001g0016 a0002c0005t0001g0126 a0002c0005t0001g0147 a0002c0005t0002g0011 a0002c0005t0002g0124 a0002c0005t0002g0125 a0002c0005t0002g0127 a0002c0005t0002g0129 a0002c0005t0002g0141 a0002c0005t0002g0148 a0002c0005t0002g0151 a0002c0005t0002g0152 a0002c0005t0002g0164 a0002c0005t0002g0165 a0002c0013t0002g0009 a0002c0013t0002g0083 a0002c0013t0002g0084 a0002c0013t0002g0090 a0002c0013t0002g0109 a0002c0014t0001g0034 a0002c0014t0001g0172 a0002c0014t0002g0020 a0002c0014t0002g0241 a0002c0014t0002g0259 a0002c0032t0001g0092 a0002c0037t0001g0006 a0002c0043t0001g0251 a0008c0008t0001g0010 a0008c0008t0001g0029 a0008c0008t0001g0098 a0008c0008t0001g0099 a0008c0008t0001g0101 a0008c0008t0001g0102 a0008c0008t0001g0103 a0008c0008t0001g0105 a0008c0008t0001g0106 a0010c0017t0001g0006 a0010c0017t0001g0143 a0010c0017t0001g0144 a0010c0038t0002g0146 a0014c0021t0001g0114 a0014c0021t0002g0112 a0014c0021t0002g0113 a0017c0027t0001g0010 a0017c0027t0001g0100 a0018c0025t0001g0110 a0018c0025t0001g0111 a0022c0040t0001g0064 a0023c0039t0001g0006 a0025c0042t0001g0184	93	364	0.2555	24	c.717 others(31): Show c.717_718insCCTCCCAACACCACCTCCCCGGAG	p.Glu others(37): Show p.Glu239_Ser240insProProAsnThrThrSerProGlu	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	732/1541	718/1149	240/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501738	C C	CGGAGCCT others(17): Show CGGAGCCTCCCGACACCACCTCCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp2 HG01070.hp1 HG01071.hp2 others(5): Show HG00621.hp2 HG01070.hp1 HG01071.hp2 HG02027.hp1 HG02132.hp2 HG02135.hp1 NA18999.hp2 NA20752.hp2	a0010 a0013 a0010 a0013	a0010c0017 a0010c0038 a0013c0028 others(1): Show a0010c0017 a0010c0038 a0013c0028 a0013c0044	a0010c0017t0001 a0010c0038t0002 a0013c0028t0001 others(1): Show a0010c0017t0001 a0010c0038t0002 a0013c0028t0001 a0013c0044t0002	a0010c0017t0001g0006 a0010c0017t0001g0143 a0010c0017t0001g0144 others(3): Show a0010c0017t0001g0006 a0010c0017t0001g0143 a0010c0017t0001g0144 a0010c0038t0002g0146 a0013c0028t0001g0018 a0013c0044t0002g0008	8	364	0.0220	24	c.741 others(31): Show c.741_742insCCTCCCGACACCACCTCCCAGGAG	p.Glu others(37): Show p.Glu247_Ser248insProProAspThrThrSerGlnGlu	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	756/1541	742/1149	248/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MAGEA6_chrX_152761136_152774689	152766761	G G	GGTC GGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19088.hp1 NA19088.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0015 a0012c0016t0015	a0012c0016t0015g0038 a0012c0016t0015g0038	1	183	0.0055	3	c.887 others(10): Show c.887_889dupGAC	p.Gly others(16): Show p.Gly296_Pro297insArg	MAGEA6	ENSG00000197172.11	transcript	ENST00000329342.10	protein_coding	3/3	1056/1682	889/945	297/314		chrX	TogoVar
MAGEA9B_chrX_149576653_149592459	149583035	C C	CCTCCTCC others(26): Show CCTCCTCCTCCTTGCTGTCAGAGGAGGAGGTAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0023 a0005c0005t0002g0023	1	242	0.0041	33	c.112 others(40): Show c.112_144dupACTACCTCCTCCTCTGACAGCAAGGAGGAGGAG	p.Glu others(44): Show p.Glu48_Val49insThrThrSerSerSerAspSerLysGluGluGlu	MAGEA9B	ENSG00000267978.6	transcript	ENST00000595065.6	protein_coding	4/4	431/1814	144/948	48/315		chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905881	C C	CCAGTCTC others(98): Show CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGT TTTGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03540.hp1 HG03540.hp1	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0001 a0070c0074t0001	a0070c0074t0001g0001 a0070c0074t0001g0001	1	359	0.0028	105	c.483 others(112): Show c.483_484insCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCT	p.Ser others(118): Show p.Ser161_Val162insProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSerSerProGluArgSerGlnArgT hrSerGluGlyPheAlaGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	770/4256	484/3429	162/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905969	C C	CCTTTTGA others(308): Show CCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGC CTCCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTC AAAGTCCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGC CGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAG AAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTG TGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCT GAGAGAACTCAGAGTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03831.hp2 HG03831.hp2	a0178 a0178	a0178c0184 a0178c0184	a0178c0184t0001 a0178c0184t0001	a0178c0184t0001g0009 a0178c0184t0001g0009	1	359	0.0028	315	c.588 others(322): Show c.588_589insGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCAC TTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAAAGTCCTTTTG AGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCC TCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAAC TTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCT CGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTCCCCAGTCT	p.Ser others(328): Show p.Ser196_Pro197insValLeuGlnIleProValSerAlaAlaSerSe rSerThrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerP roPheGluGlyPheProGlnSerProLeuGlnIleProValSerArgSer PheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgSerGl nArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerS erSerSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArg ThrGlnSerThrPheGluGlyPheProGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	875/4256	589/3429	197/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906021	T T	TCTCCTCC others(308): Show TCTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAG AGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTC CTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAA CTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTG AGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGA GAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTC CTGTGAGCTCCTCCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp2 HG00558.hp2	a0179 a0179	a0179c0076 a0179c0076	a0179c0076t0001 a0179c0076t0001	a0179c0076t0001g0001 a0179c0076t0001g0001	1	359	0.0028	315	c.630 others(322): Show c.630_631insCTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAG AACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCT CCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACT CAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAG CCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGA GAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCT GTGAGCTCCTCCTCCTCCTCCACTTTA	p.Leu others(328): Show p.Leu211_Ser212insSerIlePheGlnSerSerProGluArgSerGl nArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerS erSerSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArg ThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleProVa lSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProG luArgThrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIle ProValSerSerSerSerSerSerThrLeuLeu	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	917/4256	631/3429	211/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(308): Show ATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG TGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCC TCCACTTTACTGAGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03017.hp1 HG03017.hp1	a0068 a0068	a0068c0186 a0068c0186	a0068c0186t0001 a0068c0186t0001	a0068c0186t0001g0003 a0068c0186t0001g0003	1	359	0.0028	315	c.684 others(322): Show c.684_685insCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTC CTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAA GTCCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGC TCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAG TCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGA GCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAG AGAACTCAGAGTACTTTTGAGGGTTTT	p.Phe others(328): Show p.Phe228_Ala229insProGlnSerValLeuGlnIleProValSerAl aAlaSerSerSerThrLeuValSerIlePheGlnSerSerProGluSerT hrGlnSerProPheGluGlyPheProGlnSerProLeuGlnIleProVal SerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGl uArgSerGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleP roValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSer ProGluArgThrGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	971/4256	685/3429	229/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906070	G G	GAGTACTT others(413): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGT GAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATT CCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTC CCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCC AGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAG AGTTCTCCTGAGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18971.hp1 NA18971.hp1	a0174 a0174	a0174c0082 a0174c0082	a0174c0082t0001 a0174c0082t0001	a0174c0082t0001g0002 a0174c0082t0001g0002	1	359	0.0028	420	c.684 others(427): Show c.684_685insCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTC CTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGA GTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCC TCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAAC TCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGA GCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAG AGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCC TATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTC CTGAGAGTGCTCAAAGTACTTTTGAGGGTTTT	p.Phe others(433): Show p.Phe228_Ala229insProGlnSerProLeuGlnIleProValSerPr oSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgT hrGlnSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProVal SerProSerPheSerSerThrLeuLeuSerLeuPheGlnSerSerProGl uArgThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleP roValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSer ProGluArgThrHisSerThrPheGluGlyPheProGlnSerLeuLeuGl nIleProMetThrSerSerPheSerSerThrLeuLeuSerIlePheGlnS erSerProGluSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	971/4256	685/3429	229/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906089	G G	GCCCAGTC others(98): Show GCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTT ACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18522.hp1 NA18522.hp1	a0173 a0173	a0173c0101 a0173c0101	a0173c0101t0001 a0173c0101t0001	a0173c0101t0001g0001 a0173c0101t0001g0001	1	359	0.0028	105	c.714 others(112): Show c.714_715insTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAG TTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTC TCCAGATTCCTGTGAGC	p.Ser others(118): Show p.Ser238_Pro239insSerSerSerSerSerThrLeuLeuSerLeuPh eGlnSerSerProGluArgThrGlnSerThrPheGluGlyPheProGlnS erProLeuGlnIleProValSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1001/4256	715/3429	239/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(203): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTAT GACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTG AGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0034 a0034	a0034c0040 a0034c0040	a0034c0040t0003 a0034c0040t0003	a0034c0040t0003g0005 a0034c0040t0003g0005	2	359	0.0056	210	c.789 others(217): Show c.789_790insCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTT CTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGA GTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTATGACCTCC TCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTGAGAGTGC TCAAAGTACTTTTGAGGGTTTT	p.Phe others(223): Show p.Phe263_Ala264insProGlnSerProLeuGlnIleProValSerAr gSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgT hrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIleProMet ThrSerSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGl uSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1076/4256	790/3429	264/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(413): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA AGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGT GAGCGCCGCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATT CCTGTGAGCCGCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTC CCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCC AGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAG AGTTCTCCTGAGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03486.hp1 HG03486.hp1	a0076 a0076	a0076c0104 a0076c0104	a0076c0104t0003 a0076c0104t0003	a0076c0104t0003g0005 a0076c0104t0003g0005	1	359	0.0028	420	c.789 others(427): Show c.789_790insCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTT CTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGA GAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCGCC GCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAAC TCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGA GCCGCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAG AGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCC TATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTC CTGAGAGTGCTCAAAGTACTTTTGAGGGTTTT	p.Phe others(433): Show p.Phe263_Ala264insProGlnSerProLeuGlnIleProValSerAr gSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgS erGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProVal SerAlaAlaSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGl uArgThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleP roValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSer ProGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGl nIleProMetThrSerSerPheSerSerThrLeuLeuSerIlePheGlnS erSerProGluSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1076/4256	790/3429	264/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(98): Show GAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGA ACTCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18940.hp1 NA18940.hp1	a0162 a0162	a0162c0084 a0162c0084	a0162c0084t0001 a0162c0084t0001	a0162c0084t0001g0001 a0162c0084t0001g0001	1	359	0.0028	105	c.798 others(112): Show c.798_799insCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCAC TTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCACAGTACTTTTG AGGGTTTTGCCCAGTCT	p.Ser others(118): Show p.Ser266_Ser267insProLeuGlnIleProValSerProSerSerSe rSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrHisSerT hrPheGluGlyPheAlaGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906202	T T	TCCACTCC others(95): Show TCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTA TTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19240.hp2 NA19240.hp2	a0145 a0145	a0145c0114 a0145c0114	a0145c0114t0001 a0145c0114t0001	a0145c0114t0001g0010 a0145c0114t0001g0010	1	359	0.0028	102	c.798 others(109): Show c.798_799insCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTG AGGGTTTTCCCCAG	p.Ser others(115): Show p.Ser266_Ser267insProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerT hrPheGluGlyPheProGln	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142		chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906202	T T	TCCACTCC others(305): Show TCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTA TTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCA CAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTCGTCCTCCACTTTACT GAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACT TTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGA GGGTTTTCCCCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03486.hp2 HG03486.hp2	a0087 a0087	a0087c0170 a0087c0170	a0087c0170t0003 a0087c0170t0003	a0087c0170t0003g0005 a0087c0170t0003g0005	1	359	0.0028	312	c.798 others(319): Show c.798_799insCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTCGTCC TCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTAC TTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCT TCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTCCCCAG	p.Ser others(325): Show p.Ser266_Ser267insProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSerSerProGluArgSerGlnArgT hrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerArgSer SerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGl nSerThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerA rgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArg ThrGlnSerThrPheGluGlyPheProGln	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142		chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906232	C C	CTCCTCCA others(98): Show CTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGA GAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGC TCCTCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0086 a0086	a0086c0169 a0086c0169	a0086c0169t0003 a0086c0169t0003	a0086c0169t0003g0005 a0086c0169t0003g0005	1	359	0.0028	105	c.840 others(112): Show c.840_841insTTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAG AACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGCT CCTCGTCCTCCACTTTA	p.Leu others(118): Show p.Leu280_Val281insLeuSerIlePheGlnSerSerProGluArgSe rGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValS erArgSerSerSerSerThrLeu	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1127/4256	841/3429	281/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906245	G G	GTGAGTAT others(98): Show GTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCA CTTTAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp2 HG02559.hp2 HG03225.hp1 others(1): Show HG02109.hp2 HG02559.hp2 HG03225.hp1 NA19043.hp1	a0027 a0107 a0027 a0107	a0027c0030 a0107c0192 a0027c0030 a0107c0192	a0027c0030t0001 a0107c0192t0001 a0027c0030t0001 a0107c0192t0001	a0027c0030t0001g0002 a0107c0192t0001g0002 a0027c0030t0001g0002 a0107c0192t0001g0002	4	359	0.0111	105	c.846 others(112): Show c.846_847insATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCT CCTCCACTTTATTGAGT	p.Ser others(118): Show p.Ser282_Leu283insIlePheGlnSerSerProGluArgThrGlnSe rThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerSerS erSerSerSerThrLeuLeuSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1133/4256	847/3429	283/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906245	G G	GTGAGTAT others(203): Show GTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCA CTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTC CTCCACTTTAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20129.hp1 NA20129.hp1	a0110 a0110	a0110c0191 a0110c0191	a0110c0191t0001 a0110c0191t0001	a0110c0191t0001g0002 a0110c0191t0001g0002	1	359	0.0028	210	c.846 others(217): Show c.846_847insATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCT CCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGT ACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTC CTCCTCCTCCACTTTATTGAGT	p.Ser others(223): Show p.Ser282_Leu283insIlePheGlnSerSerProGluArgThrGlnSe rThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerSerS erSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThr GlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleProValSe rSerSerSerSerSerThrLeuLeuSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1133/4256	847/3429	283/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906266	C C	CCTGAGAG others(98): Show CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19065.hp2 NA19065.hp2	a0080 a0080	a0080c0109 a0080c0109	a0080c0109t0001 a0080c0109t0001	a0080c0109t0001g0001 a0080c0109t0001g0001	1	359	0.0028	105	c.894 others(112): Show c.894_895insGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTC CTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGA GTACTTTTGAGGGTTTT	p.Phe others(118): Show p.Phe298_Pro299insAlaGlnSerProLeuGlnIleProValSerPr oSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgT hrGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1181/4256	895/3429	299/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906336	C C	CCTCCTCC others(98): Show CCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC CTCCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18957.hp2 NA18957.hp2	a0112 a0112	a0112c0146 a0112c0146	a0112c0146t0001 a0112c0146t0001	a0112c0146t0001g0001 a0112c0146t0001g0001	1	359	0.0028	105	c.945 others(112): Show c.945_946insCTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAG TACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCT CCTTCTCCTCCACTTTA	p.Leu others(118): Show p.Leu316_Ser317insSerLeuPheGlnSerPheSerGluArgThrGl nSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerP roSerPheSerSerThrLeuLeu	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1232/4256	946/3429	316/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906490	A A	AAGTGCTT others(98): Show AAGTGCTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGGGAGCC CCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGA ACTCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19077.hp2 NA19077.hp2	a0078 a0078	a0078c0103 a0078c0103	a0078c0103t0001 a0078c0103t0001	a0078c0103t0001g0001 a0078c0103t0001g0001	1	359	0.0028	105	c.108 others(114): Show c.1089_1090insGCTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATT CCTGGGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTC CCCTGAGAGAACTCACAGT	p.Ser others(118): Show p.Ser363_Thr364insAlaPheGluGlyPheProGlnSerProLeuGl nIleProGlySerProSerPheSerSerThrLeuLeuSerLeuPheGlnS erSerProGluArgThrHisSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1376/4256	1090/3429	364/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGI1_chr3_65348526_66043918	65439885	T T	TCTG TCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00738.hp2 HG01123.hp2 others(19): Show HG00140.hp2 HG00738.hp2 HG01123.hp2 HG01167.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01891.hp2 HG01952.hp1 HG02040.hp2 HG02145.hp2 HG02155.hp2 HG02559.hp1 HG02735.hp1 HG03239.hp2 HG03540.hp2 HG03927.hp1 HG03942.hp1 NA18747.hp1 NA19030.hp2 NA20805.hp2 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0006c0008t0001	a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0023 others(19): Show a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0049 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0069 a0002c0002t0001g0083 a0002c0002t0001g0087 a0002c0002t0001g0097 a0002c0002t0002g0041 a0002c0002t0002g0068 a0002c0002t0002g0084 a0002c0002t0003g0017 a0002c0002t0003g0050 a0002c0002t0007g0066 a0002c0002t0010g0013 a0006c0008t0001g0092	22	104	0.2115	3	c.126 others(12): Show c.1261_1263dupCAG	p.Gln others(6): Show p.Gln421dup	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	9/23	1873/7851	1263/4389	421/1462		chr3	TogoVar
MAGI1_chr3_65348526_66043918	65439885	T T	TCTGCTG TCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp1 HG02572.hp1 HG02965.hp1 others(2): Show HG02055.hp1 HG02572.hp1 HG02965.hp1 HG02970.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0012 a0004c0004t0001 a0004c0004t0012	a0004c0004t0001g0057 a0004c0004t0001g0073 a0004c0004t0001g0090 others(2): Show a0004c0004t0001g0057 a0004c0004t0001g0073 a0004c0004t0001g0090 a0004c0004t0001g0094 a0004c0004t0012g0103	5	104	0.0481	6	c.125 others(15): Show c.1258_1263dupCAGCAG	p.Gln others(13): Show p.Gln420_Gln421dup	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	9/23	1873/7851	1263/4389	421/1462		chr3	TogoVar
MANF_chr3_51380291_51394397	51385326	G G	GGAGGAGG others(2): Show GGAGGAGGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18979.hp2 NA18982.hp2 NA19078.hp2 NA18979.hp2 NA18982.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0002 a0001c0001t0008g0001 a0001c0001t0008g0002	3	384	0.0078	9	c.4_1 others(13): Show c.4_12dupAGGAGGATG	p.Arg others(9): Show p.Arg2_Met4dup	MANF	ENSG00000145050.19	transcript	ENST00000528157.7	protein_coding	1/4	65/909	13/549	5/182	INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K5_chr6_136552046_136797477	136592528	T T	TGTC TGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03017.hp1 HG03017.hp2 HG03017.hp1 HG03017.hp2	a0002 a0002	a0002c0017 a0002c0025 a0002c0017 a0002c0025	a0002c0017t0001 a0002c0025t0001 a0002c0017t0001 a0002c0025t0001	a0002c0017t0001g0030 a0002c0025t0001g0101 a0002c0017t0001g0030 a0002c0025t0001g0101	2	162	0.0124	3	c.296 others(12): Show c.2962_2964dupGAC	p.Asp others(6): Show p.Asp988dup	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	22/30	3284/5157	2964/4125	988/1374		chr6	TogoVar
MAPK1_chr22_21754657_21872645	21867418	C C	CCCG CCCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01358.hp2 HG01952.hp1 HG02148.hp2 others(4): Show HG01358.hp2 HG01952.hp1 HG02148.hp2 HG03098.hp1 HG03704.hp1 NA20300.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0050 a0002c0002t0001 a0002c0002t0050	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 others(4): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0050g0003	7	348	0.0201	3	c.20_ others(8): Show c.20_22dupCGG	p.Ala others(4): Show p.Ala7dup	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/9	227/5881	22/1083	8/360		chr22	TogoVar
MBD2_chr18_54146606_54229669	54224211	C C	CGCT CGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp2 HG02572.hp1 HG02723.hp2 others(4): Show HG02055.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0006 a0003c0003t0037 a0003c0003t0005 a0003c0003t0006 a0003c0003t0037	a0003c0003t0005g0014 a0003c0003t0005g0015 a0003c0003t0005g0016 others(4): Show a0003c0003t0005g0014 a0003c0003t0005g0015 a0003c0003t0005g0016 a0003c0003t0005g0017 a0003c0003t0005g0018 a0003c0003t0006g0013 a0003c0003t0037g0019	7	300	0.0233	3	c.346 others(10): Show c.346_348dupAGC	p.Ser others(6): Show p.Ser116dup	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	1/7	458/5064	348/1236	116/411		chr18	TogoVar
MBD2_chr18_54146606_54229669	54224214	T T	TGCC TGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(22): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01516.hp1 HG02132.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 NA18948.hp1 NA18979.hp1 NA18983.hp2 NA19000.hp1 NA19010.hp2 NA19077.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 others(7): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0014 a0002c0002t0017 a0002c0002t0034 a0002c0002t0036 a0002c0002t0038 a0002c0002t0048 a0002c0002t0049	a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0004g0001 others(18): Show a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0004g0001 a0002c0002t0004g0266 a0002c0002t0004g0267 a0002c0002t0004g0276 a0002c0002t0004g0277 a0002c0002t0006g0273 a0002c0002t0014g0268 a0002c0002t0014g0270 a0002c0002t0014g0278 a0002c0002t0014g0279 a0002c0002t0014g0280 a0002c0002t0017g0261 a0002c0002t0017g0264 a0002c0002t0017g0265 a0002c0002t0034g0263 a0002c0002t0036g0262 a0002c0002t0038g0271 a0002c0002t0048g0272 a0002c0002t0049g0269	25	300	0.0833	3	c.343 others(10): Show c.343_345dupGGC	p.Gly others(6): Show p.Gly115dup	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	1/7	455/5064	345/1236	115/411		chr18	TogoVar
MBD2_chr18_54146606_54229669	54224214	T T	TGCCGCCG others(14): Show TGCCGCCGCCGCCGCAGCCGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0281 a0004c0008t0001g0281	1	300	0.0033	21	c.325 others(28): Show c.325_345dupGGCGGCTGCGGCGGCGGCGGC	p.Gly others(34): Show p.Gly115_Ser116insGlyGlyCysGlyGlyGlyGly	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	1/7	455/5064	345/1236	115/411		chr18	TogoVar
MCC_chr5_113017106_113493453	113488330	T T	TGCTGCTG others(5): Show TGCTGCTGCTGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00733.hp1 HG03654.hp1 HG04199.hp1 others(3): Show HG00733.hp1 HG03654.hp1 HG04199.hp1 NA18957.hp1 NA18981.hp1 NA19002.hp2	a0004 a0008 a0004 a0008	a0004c0019 a0004c0054 a0004c0055 others(1): Show a0004c0019 a0004c0054 a0004c0055 a0008c0053	a0004c0019t0003 a0004c0019t0004 a0004c0019t0014 others(3): Show a0004c0019t0003 a0004c0019t0004 a0004c0019t0014 a0004c0054t0001 a0004c0055t0005 a0008c0053t0001	a0004c0019t0003g0113 a0004c0019t0004g0112 a0004c0019t0014g0117 others(3): Show a0004c0019t0003g0113 a0004c0019t0004g0112 a0004c0019t0014g0117 a0004c0054t0001g0115 a0004c0055t0005g0116 a0008c0053t0001g0114	6	160	0.0375	12	c.84_ others(17): Show c.84_85insGGCAGCAGCAGC	p.Ser others(23): Show p.Ser28_Ser29insGlySerSerSer	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/19	123/8295	84/3060	28/1019		chr5	TogoVar
MCC_chr5_113017106_113493453	113488351	T T	TGCC TGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp1 HG00408.hp2 HG00621.hp1 others(39): Show HG00323.hp1 HG00408.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01361.hp2 HG02040.hp2 HG02145.hp1 HG02257.hp1 HG02293.hp1 HG02683.hp1 HG04115.hp1 NA18612.hp1 NA18945.hp1 NA18947.hp1 NA18955.hp1 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19058.hp1 NA19065.hp1 NA19074.hp2 NA19083.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0002 a0006 a0002 a0006	a0002c0001 a0002c0002 a0002c0013 others(4): Show a0002c0001 a0002c0002 a0002c0013 a0002c0029 a0002c0056 a0002c0057 a0006c0059	a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 others(12): Show a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0014 a0002c0001t0033 a0002c0001t0037 a0002c0002t0001 a0002c0002t0012 a0002c0013t0003 a0002c0013t0015 a0002c0013t0016 a0002c0029t0001 a0002c0056t0003 a0002c0057t0029 a0006c0059t0001	a0002c0001t0002g0119 a0002c0001t0002g0121 a0002c0001t0002g0123 others(39): Show a0002c0001t0002g0119 a0002c0001t0002g0121 a0002c0001t0002g0123 a0002c0001t0002g0124 a0002c0001t0002g0125 a0002c0001t0002g0127 a0002c0001t0002g0133 a0002c0001t0002g0144 a0002c0001t0002g0145 a0002c0001t0002g0146 a0002c0001t0002g0150 a0002c0001t0002g0155 a0002c0001t0003g0126 a0002c0001t0003g0136 a0002c0001t0003g0137 a0002c0001t0004g0152 a0002c0001t0004g0157 a0002c0001t0004g0158 a0002c0001t0014g0134 a0002c0001t0033g0142 a0002c0001t0037g0153 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0012g0122 a0002c0013t0003g0141 a0002c0013t0015g0130 a0002c0013t0015g0139 a0002c0013t0016g0151 a0002c0029t0001g0131 a0002c0029t0001g0132 a0002c0056t0003g0135 a0002c0057t0029g0118 a0006c0059t0001g0160	42	160	0.2625	3	c.61_ others(8): Show c.61_63dupGGC	p.Gly others(5): Show p.Gly21dup	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/19	102/8295	63/3060	21/1019		chr5	TogoVar
MED15_chr22_20502610_20592619	20566526	A A	ACAG ACAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(49): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp2 HG01433.hp2 HG01515.hp2 HG02132.hp1 HG02135.hp1 HG02258.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03491.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp1 NA18747.hp2 NA18939.hp2 NA18952.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18993.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0002c0014 a0013c0015 a0002c0003 a0002c0014 a0013c0015	a0002c0003t0001 a0002c0003t0012 a0002c0014t0001 others(1): Show a0002c0003t0001 a0002c0003t0012 a0002c0014t0001 a0013c0015t0011	a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0108 others(47): Show a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0108 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0318 a0002c0003t0012g0175 a0002c0014t0001g0191 a0013c0015t0011g0179	52	341	0.1525	3	c.784 others(10): Show c.784_786dupCAG	p.Gln others(6): Show p.Gln262dup	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	7/18	856/3351	787/2367	263/788	INFO_REALIGN_3_PRIME	chr22	TogoVar
MED15_chr22_20502610_20592619	20566526	A A	ACAGCAGC others(5): Show ACAGCAGCAGCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00741.hp1 HG00741.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0189 a0014c0013t0001g0189	1	341	0.0029	12	c.775 others(19): Show c.775_786dupCAGCAGCAGCAG	p.Gln others(13): Show p.Gln259_Gln262dup	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	7/18	856/3351	787/2367	263/788	INFO_REALIGN_3_PRIME	chr22	TogoVar
MEIS3_chr19_47398124_47424527	47417215	T T	TGTCCAAG others(5): Show TGTCCAAGCCTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0141 a0002c0006t0001g0141	1	251	0.0040	12	c.136 others(19): Show c.136_147dupCCAGGCTTGGAC	p.Asp others(23): Show p.Asp49_Ser50insProGlyLeuAsp	MEIS3	ENSG00000105419.18	transcript	ENST00000558555.6	protein_coding	2/13	593/2021	147/1128	49/375		chr19	TogoVar
MESP1_chr15_89744875_89756249	89751065	G G	GCGGGGCT others(5): Show GCGGGGCTCGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(92): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01993.hp2 HG02055.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19078.hp2 NA19079.hp2 NA19089.hp1 NA19240.hp1 NA20752.hp1 NA20905.hp1	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0008 a0011 a0012 a0017	a0002c0002 a0002c0011 a0002c0031 others(6): Show a0002c0002 a0002c0011 a0002c0031 a0005c0009 a0006c0010 a0008c0012 a0011c0016 a0012c0015 a0017c0038	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0011t0002 a0002c0011t0003 a0002c0031t0001 a0005c0009t0001 a0006c0010t0001 a0008c0012t0002 a0011c0016t0001 a0012c0015t0001 a0017c0038t0001	a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0002g0039 others(11): Show a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0002g0039 a0002c0002t0004g0027 a0002c0011t0002g0024 a0002c0011t0003g0025 a0002c0031t0001g0041 a0005c0009t0001g0009 a0006c0010t0001g0010 a0008c0012t0002g0014 a0011c0016t0001g0018 a0012c0015t0001g0023 a0012c0015t0001g0040 a0017c0038t0001g0049	95	428	0.2220	12	c.166 others(19): Show c.166_167insTGCCGAGCCCCG	p.Pro others(23): Show p.Pro55_Ala56insValProSerPro	MESP1	ENSG00000166823.6	transcript	ENST00000300057.5	protein_coding	1/2	184/1094	166/807	56/268		chr15	TogoVar
MFGE8_chr15_88893683_88918379	88909876	T T	TAAAAAAA others(101): Show TAAAAAAAAAAAAGAAATATAAAAAAAAAAAAAAAAAAAAAAATAAAATT AAAATCAAAAAAAAAGAAAAAATTAAAAAATAAATAATAAATATATAAAT AAAAAATCA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01934.hp2 HG01934.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0217 a0012c0016t0002g0217	1	436	0.0023	108	c.120 others(115): Show c.120_121insTGATTTTTTATTTATATATTTATTATTTATTTTTTAAT TTTTTCTTTTTTTTTGATTTTAATTTTATTTTTTTTTTTTTTTTTTTTTT TATATTTCTTTTTTTTTTTT	p.Glu others(119): Show p.Glu40_Ile41insTerPhePheIleTyrIlePheIleIleTyrPheL euIlePheSerPhePheLeuIleLeuIleLeuPhePhePhePhePhePhe PheLeuTyrPhePhePhePhePhe	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding	2/8	180/1936	120/1164	40/387		chr15	TogoVar
MKI67_chr10_128091659_128131423	128107489	T T	TGCTGGG TGCTGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00735.hp2 HG02257.hp2 HG02965.hp1 HG00735.hp2 HG02257.hp2 HG02965.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0016 a0014c0017t0016	a0014c0017t0016g0035 a0014c0017t0016g0122 a0014c0017t0016g0035 a0014c0017t0016g0122	3	408	0.0074	6	c.435 others(15): Show c.4350_4351insCCCAGC	p.Gly others(21): Show p.Gly1450_Ser1451insProSer	MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding	13/15	4764/12716	4350/9771	1450/3256		chr10	TogoVar
MLLT10_chr10_21529232_21748630	21617189	T T	TCATGAGA others(8): Show TCATGAGAAAGAGAAA	conservative_inframe_insertion others(1): Show conservative_inframe_insertion splice_region_variant	MODERATE	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0030 a0002c0009t0001g0030	1	192	0.0052	15	c.682 others(22): Show c.682_696dupCATGAGAAAGAGAAA	p.His others(13): Show p.His228_Lys232dup	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	8/23	986/5143	697/3207	233/1068	INFO_REALIGN_3_PRIME	chr10	TogoVar
MMP24OS_chr20_35271352_35283122	35277773	T T	TGGGCTC TGGGCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03041.hp1 HG03239.hp2 NA18986.hp2 others(1): Show HG03041.hp1 HG03239.hp2 NA18986.hp2 NA21309.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0012 a0002c0002 a0010c0012	a0002c0002t0003 a0002c0002t0004 a0010c0012t0004 a0002c0002t0003 a0002c0002t0004 a0010c0012t0004	a0002c0002t0003g0003 a0002c0002t0004g0004 a0010c0012t0004g0037 a0002c0002t0003g0003 a0002c0002t0004g0004 a0010c0012t0004g0037	4	374	0.0107	6	c.151 others(13): Show c.151_156dupGAGCCC	p.Pro others(17): Show p.Pro52_Ser53insGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	273/1695	156/216	52/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTCG others(5): Show CGGGCTCGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(87): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18964.hp2 NA18972.hp1 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0002c0002t0003 a0002c0002t0004 a0002c0002t0010	a0002c0002t0003g0003 a0002c0002t0004g0004 a0002c0002t0010g0011 a0002c0002t0003g0003 a0002c0002t0004g0004 a0002c0002t0010g0011	90	374	0.2406	12	c.150 others(19): Show c.150_151insCAGCCCGAGCCC	p.Pro others(23): Show p.Pro50_Glu51insGlnProGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTCG others(11): Show CGGGCTCGGGCTGGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03471.hp2 HG03471.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0004 a0011c0011t0004	a0011c0011t0004g0036 a0011c0011t0004g0036	1	374	0.0027	18	c.150 others(25): Show c.150_151insCAGCCCCAGCCCGAGCCC	p.Pro others(29): Show p.Pro50_Glu51insGlnProGlnProGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTCG others(23): Show CGGGCTCGGGCTGGGGCTGGGGCTGGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0017 a0007c0007t0004g0017	2	374	0.0054	30	c.150 others(37): Show c.150_151insCAGCCCCAGCCCCAGCCCCAGCCCGAGCCC	p.Pro others(41): Show p.Pro50_Glu51insGlnProGlnProGlnProGlnProGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar

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Search Results (Total: 1973 hits)