Joint Open Genome and Omics Platform (JoGo)

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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Select column to sort.

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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	distance	status	chr	external
SPICE1_chr3_113437718_113520156	113458160	GCTCCCTC others(32): Show GCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00544.hp1 others(152): Show HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0003 a0002c0008 a0002c0019 a0003c0005 a0003c0014 a0003c0016 a0005c0009 a0006c0013 a0007c0011 a0008c0021 a0009c0018 a0010c0020	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 others(23): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0002t0003 a0001c0002t0007 a0001c0002t0014 a0001c0002t0025 a0001c0004t0002 a0001c0004t0004 a0001c0004t0024 a0001c0012t0017 a0002c0003t0005 a0002c0003t0009 a0002c0003t0021 a0002c0003t0030 a0002c0008t0012 a0002c0019t0019 a0003c0005t0004 a0003c0014t0004 a0003c0016t0004 a0005c0009t0013 a0006c0013t0018 a0007c0011t0004 a0008c0021t0004 a0009c0018t0003 a0010c0020t0020	a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0006g0321 others(151): Show a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0006g0321 a0001c0001t0006g0322 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0329 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0010g0238 a0001c0001t0010g0239 a0001c0001t0010g0240 a0001c0001t0010g0241 a0001c0002t0003g0007 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0255 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0007g0256 a0001c0002t0007g0257 a0001c0002t0007g0258 a0001c0002t0007g0259 a0001c0002t0007g0260 a0001c0002t0007g0261 a0001c0002t0007g0262 a0001c0002t0007g0264 a0001c0002t0007g0265 a0001c0002t0007g0317 a0001c0002t0007g0318 a0001c0002t0014g0282 a0001c0002t0014g0306 a0001c0002t0025g0263 a0001c0004t0002g0094 a0001c0004t0004g0106 a0001c0004t0004g0107 a0001c0004t0004g0111 a0001c0004t0004g0112 a0001c0004t0004g0113 a0001c0004t0004g0114 a0001c0004t0004g0115 a0001c0004t0004g0118 a0001c0004t0004g0163 a0001c0004t0004g0164 a0001c0004t0024g0237 a0001c0012t0017g0315 a0001c0012t0017g0316 a0002c0003t0005g0334 a0002c0003t0005g0335 a0002c0003t0005g0336 a0002c0003t0005g0338 a0002c0003t0005g0339 a0002c0003t0005g0340 a0002c0003t0005g0341 a0002c0003t0005g0342 a0002c0003t0005g0344 a0002c0003t0005g0347 a0002c0003t0005g0348 a0002c0003t0005g0352 a0002c0003t0005g0353 a0002c0003t0005g0354 a0002c0003t0005g0356 a0002c0003t0009g0343 a0002c0003t0009g0345 a0002c0003t0009g0346 a0002c0003t0009g0349 a0002c0003t0009g0350 a0002c0003t0009g0351 a0002c0003t0009g0355 a0002c0003t0021g0011 a0002c0003t0030g0337 a0002c0008t0012g0110 a0002c0008t0012g0165 a0002c0008t0012g0178 a0002c0019t0019g0008 a0003c0005t0004g0109 a0003c0005t0004g0166 a0003c0005t0004g0167 a0003c0005t0004g0168 a0003c0005t0004g0169 a0003c0005t0004g0170 a0003c0005t0004g0171 a0003c0005t0004g0172 a0003c0005t0004g0174 a0003c0005t0004g0175 a0003c0005t0004g0176 a0003c0014t0004g0173 a0003c0016t0004g0177 a0005c0009t0013g0242 a0005c0009t0013g0243 a0005c0009t0013g0244 a0006c0013t0018g0313 a0006c0013t0018g0314 a0007c0011t0004g0116 a0007c0011t0004g0117 a0008c0021t0004g0081 a0009c0018t0003g0254 a0010c0020t0020g0009	155	364	0.4258	-39	c.143 others(56): Show c.1436-842_1436-804delACGGGAGAGGGAGACGGGAGAGGGAGAC GGGAGAGGGAG		SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	12/17						chr3	TogoVar
SPIC_chr12_101470336_101491997	101479284	AAAAGAAA others(32): Show AAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	398	0.0025	-39	c.98- others(52): Show c.98-274_98-236delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA		SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIRE2_chr16_89823475_89876319	89852026	CCCAGATC others(32): Show CCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCG	C C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	356	0.0028	-39	c.645 others(56): Show c.645+1400_645+1438delAACCCGCCAGATCCCCTGGCCCATCTTC CATCCTCCCCC		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852075	CTGGCCCA others(32): Show CTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	356	0.0028	-39	c.645 others(56): Show c.645+1444_645+1482delACCAGATCCCATGGCCCATCTTCCATCC TCCCCCCACCC		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852134	CCCCCACC others(32): Show CCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT	C C	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	356	0.0028	-39	c.645 others(56): Show c.645+1483_645+1521delCCCAGATCCCATGGCCCATCTTCCATCC TCTCCCCACCC		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852251	CCCCCACC others(32): Show CCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0295 a0003c0005t0001g0295	1	356	0.0028	-39	c.645 others(56): Show c.645+1630_645+1668delTCCCCACCCACCAGATCCCATGGCCCAT CTTCCATCCTC		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852557	GTCCTCTC others(32): Show GTCCTCTCCCCACCCCCTGGATCCCCTGGCCCATCTTCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0301 a0003c0005t0001g0301	1	356	0.0028	-39	c.646 others(56): Show c.646-1723_646-1685delTCCCCACCCCCTGGATCCCCTGGCCCAT CTTCCATCCTC		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPPL2B_chr19_2323684_2360095	2347348	CTCTCTCC others(32): Show CTCTCTCCACACACACACACTCTCATTCGCCTGATTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	414	0.0024	-39	c.135 others(58): Show c.1354+2025_1354+2063delCACACACACACACTCTCATTCGCCTG ATTCCGTTCTCTC		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2347765	ACACACAC others(32): Show ACACACACACTCTCATTCGCCTGATTCCGTTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(296): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0001c0016 a0001c0018 a0001c0020 a0001c0022 a0001c0023 a0001c0025 a0001c0028 a0001c0032 a0001c0034 a0001c0035 a0001c0038 a0002c0007 a0002c0008 a0002c0011 a0002c0029 a0005c0030 a0006c0019 a0006c0024 a0007c0013 a0008c0037 a0009c0033 a0010c0031 a0011c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0002t0001 a0001c0002t0010 a0001c0002t0014 a0001c0002t0016 a0001c0003t0001 a0001c0003t0024 a0001c0003t0026 a0001c0004t0001 a0001c0004t0010 a0001c0004t0012 a0001c0004t0014 a0001c0004t0030 a0001c0015t0001 a0001c0015t0028 a0001c0016t0001 a0001c0018t0002 a0001c0020t0002 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0028t0020 a0001c0032t0002 a0001c0034t0001 a0001c0035t0002 a0001c0038t0002 a0002c0007t0003 a0002c0007t0008 a0002c0007t0029 a0002c0008t0003 a0002c0011t0009 a0002c0011t0018 a0002c0029t0027 a0005c0030t0002 a0006c0019t0002 a0006c0024t0002 a0007c0013t0001 a0008c0037t0001 a0009c0033t0001 a0010c0031t0002 a0011c0026t0002	a0001c0001t0001g0025 a0001c0001t0001g0108 a0001c0001t0001g0118 others(224): Show a0001c0001t0001g0025 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0006g0010 a0001c0001t0006g0234 a0001c0001t0015g0225 a0001c0001t0015g0257 a0001c0001t0021g0251 a0001c0001t0022g0222 a0001c0001t0023g0259 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0116 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0141 a0001c0002t0010g0002 a0001c0002t0010g0059 a0001c0002t0014g0002 a0001c0002t0014g0005 a0001c0002t0016g0023 a0001c0003t0001g0001 a0001c0003t0001g0015 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0024g0202 a0001c0003t0026g0001 a0001c0004t0001g0014 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0104 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0115 a0001c0004t0001g0142 a0001c0004t0001g0205 a0001c0004t0010g0280 a0001c0004t0012g0009 a0001c0004t0014g0221 a0001c0004t0030g0009 a0001c0015t0001g0226 a0001c0015t0001g0270 a0001c0015t0028g0019 a0001c0016t0001g0026 a0001c0016t0001g0120 a0001c0018t0002g0161 a0001c0020t0002g0247 a0001c0020t0002g0250 a0001c0022t0001g0064 a0001c0023t0001g0013 a0001c0025t0001g0034 a0001c0028t0020g0275 a0001c0032t0002g0217 a0001c0034t0001g0096 a0001c0035t0002g0246 a0001c0038t0002g0255 a0002c0007t0003g0154 a0002c0007t0003g0171 a0002c0007t0008g0166 a0002c0007t0008g0180 a0002c0007t0008g0181 a0002c0007t0029g0179 a0002c0008t0003g0156 a0002c0008t0003g0172 a0002c0008t0003g0173 a0002c0008t0003g0174 a0002c0008t0003g0175 a0002c0008t0003g0176 a0002c0011t0009g0165 a0002c0011t0009g0168 a0002c0011t0009g0177 a0002c0011t0009g0178 a0002c0011t0018g0167 a0002c0029t0027g0052 a0005c0030t0002g0279 a0006c0019t0002g0231 a0006c0019t0002g0248 a0006c0024t0002g0060 a0007c0013t0001g0131 a0007c0013t0001g0132 a0007c0013t0001g0133 a0008c0037t0001g0216 a0009c0033t0001g0112 a0010c0031t0002g0238 a0011c0026t0002g0243	299	414	0.7222	-39	c.135 others(58): Show c.1354+2445_1354+2483delTCTCATTCGCCTGATTCCGTTCTCTC TCTCCACACACAC		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2348165	CACACACA others(32): Show CACACACACTCGCGCTCTCATTCGCTTGATTCCGTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(220): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0004 others(18): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0015 a0001c0016 a0001c0018 a0001c0020 a0001c0025 a0001c0028 a0001c0032 a0001c0035 a0002c0011 a0002c0029 a0005c0030 a0006c0019 a0006c0024 a0008c0037 a0009c0033 a0010c0031 a0011c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0003t0001 a0001c0003t0024 a0001c0003t0026 a0001c0004t0001 a0001c0004t0012 a0001c0004t0030 a0001c0010t0006 a0001c0015t0001 a0001c0015t0028 a0001c0016t0001 a0001c0018t0002 a0001c0020t0002 a0001c0025t0001 a0001c0028t0020 a0001c0032t0002 a0001c0035t0002 a0002c0011t0009 a0002c0011t0018 a0002c0029t0027 a0005c0030t0002 a0006c0019t0002 a0006c0024t0002 a0008c0037t0001 a0009c0033t0001 a0010c0031t0002 a0011c0026t0002	a0001c0001t0001g0025 a0001c0001t0001g0108 a0001c0001t0001g0118 others(168): Show a0001c0001t0001g0025 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0003g0139 a0001c0001t0006g0010 a0001c0001t0006g0234 a0001c0001t0015g0225 a0001c0001t0015g0257 a0001c0001t0017g0314 a0001c0001t0017g0315 a0001c0001t0021g0251 a0001c0001t0022g0222 a0001c0001t0023g0259 a0001c0003t0001g0001 a0001c0003t0001g0015 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0024g0202 a0001c0003t0026g0001 a0001c0004t0001g0014 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0102 a0001c0004t0001g0104 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0115 a0001c0004t0001g0142 a0001c0004t0012g0009 a0001c0004t0030g0009 a0001c0010t0006g0140 a0001c0015t0001g0226 a0001c0015t0001g0270 a0001c0015t0028g0019 a0001c0016t0001g0026 a0001c0016t0001g0120 a0001c0018t0002g0161 a0001c0020t0002g0247 a0001c0020t0002g0250 a0001c0025t0001g0034 a0001c0028t0020g0275 a0001c0032t0002g0217 a0001c0035t0002g0246 a0002c0011t0009g0165 a0002c0011t0009g0168 a0002c0011t0009g0177 a0002c0011t0009g0178 a0002c0011t0018g0167 a0002c0029t0027g0052 a0005c0030t0002g0279 a0006c0019t0002g0231 a0006c0019t0002g0248 a0006c0024t0002g0060 a0008c0037t0001g0216 a0009c0033t0001g0112 a0010c0031t0002g0238 a0011c0026t0002g0243	223	414	0.5387	-39	c.135 others(58): Show c.1354+2836_1354+2874delACACACACTCGCGCTCTCATTCGCTT GATTCCGTTCTCT		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14						chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2349270	TCGTGTTC others(32): Show TCGTGTTCTCATTCGCTTGATTCCGTTCTCTCTCCACACA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0183 a0002c0005t0004g0183	1	414	0.0024	-39	c.135 others(58): Show c.1355-2162_1355-2124delGTGTTCTCATTCGCTTGATTCCGTTC TCTCTCCACACAC		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRY3_chrX_155607586_155787459	155689318	CTGCATAT others(32): Show CTGCATATAGCTAGCCAGTTATCCCAGCACCATTTATTGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG03579.hp1 HG02451.hp1 HG03195.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0036 a0001c0001t0037 a0001c0001t0007 a0001c0001t0036 a0001c0001t0037	a0001c0001t0007g0099 a0001c0001t0036g0098 a0001c0001t0037g0097 a0001c0001t0007g0099 a0001c0001t0036g0098 a0001c0001t0037g0097	3	231	0.0130	-39	c.-28 others(60): Show c.-282+76674_-282+76712delCATATAGCTAGCCAGTTATCCCAG CACCATTTATTGTTG		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SRGAP1_chr12_63839700_64167217	63983813	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp2 HG02886.hp2 others(2): Show HG01361.hp1 HG01891.hp2 HG02886.hp2 HG03195.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0124 a0001c0002t0005 a0001c0002t0040 others(2): Show a0001c0001t0124 a0001c0002t0005 a0001c0002t0040 a0001c0003t0100 a0003c0005t0139	a0001c0001t0124g0107 a0001c0002t0005g0090 a0001c0002t0040g0019 others(2): Show a0001c0001t0124g0107 a0001c0002t0005g0090 a0001c0002t0040g0019 a0001c0003t0100g0014 a0003c0005t0139g0170	5	170	0.0294	-39	c.68- others(51): Show c.68-133_68-95delATATATATATATATATATATATATATATATATA TATATA		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21						chr12	TogoVar
SS18L1_chr20_62138769_62187514	62151799	GCCCCCGT others(32): Show GCCCCCGTTCCCCTCTTTTCCCGCTCCCCATAGCTGGCCT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp2 NA18971.hp1 others(2): Show HG02071.hp2 HG02074.hp2 NA18971.hp1 NA18999.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0001 a0001c0001t0002 a0001c0001t0019	a0001c0001t0001g0225 a0001c0001t0002g0224 a0001c0001t0002g0239 others(2): Show a0001c0001t0001g0225 a0001c0001t0002g0224 a0001c0001t0002g0239 a0001c0001t0002g0265 a0001c0001t0019g0240	5	316	0.0158	-39	c.70- others(54): Show c.70-6843_70-6805delTAGCTGGCCTCCCCCGTTCCCCTCTTTTCC CGCTCCCCA		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62151829	TAGCTGGC others(32): Show TAGCTGGCCTCCCCCGTTCCCCTCTTTTCCCGCTCCCCAG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	316	0.0032	-39	c.70- others(54): Show c.70-6833_70-6795delCCCCCGTTCCCCTCTTTTCCCGCTCCCCAG AGCTGGCCT		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62151839	CCCCCGTT others(32): Show CCCCCGTTCCCCTCTTTTCCCGCTCCCCAGAGCTGGCCTT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03834.hp2 HG04204.hp2 others(1): Show HG03492.hp2 HG03834.hp2 HG04204.hp2 NA19063.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0015 a0001c0002 a0004c0015	a0001c0002t0004 a0001c0002t0023 a0004c0015t0001 a0001c0002t0004 a0001c0002t0023 a0004c0015t0001	a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0023g0279 others(1): Show a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0023g0279 a0004c0015t0001g0287	4	316	0.0127	-39	c.70- others(54): Show c.70-6811_70-6773delCTCCCCAGAGCTGGCCTTCCCCGTTCCCCT CTTTTCCCG		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62151861	CTCCCCAG others(32): Show CTCCCCAGAGCTGGCCTTCCCCGTTCCCCTCTTTTCCCGA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0161 a0001c0001t0001g0162	2	316	0.0063	-39	c.70- others(54): Show c.70-6794_70-6756delTCCCCGTTCCCCTCTTTTCCCGATCCCCAG AGCTGGCCT		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62151947	AGCTGGCC others(32): Show AGCTGGCCTCCCCCGTTCCCCTCTTTTCCCGGTCCCCAGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19005.hp2 HG02486.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0119 a0001c0004t0001g0173 a0001c0001t0001g0119 a0001c0004t0001g0173	2	316	0.0063	-39	c.70- others(54): Show c.70-6694_70-6656delGTCCCCAGGGCTGGCCTCCCCCGTTCCCCT CTTTTCCCG		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
SSBP3_chr1_54220432_54411394	54240084	GTGTGCGC others(32): Show GTGTGCGCGCGCGCGCGTGTGCGTGCGCGCGCGCGCGCAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02965.hp2 HG00639.hp1 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0027 a0001c0003t0020g0029 a0001c0003t0020g0027 a0001c0003t0020g0029	2	280	0.0071	-39	c.856 others(54): Show c.856+782_856+820delTTGCGCGCGCGCGCGCACGCACACGCGCGC GCGCGCACA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17						chr1	TogoVar
STAT5B_chr17_42194177_42281391	42221983	CTGTGTGT others(32): Show CTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19002.hp2 NA18962.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0116 a0001c0001t0001g0031 a0001c0001t0001g0116	2	260	0.0077	-39	c.550 others(56): Show c.550+1360_550+1398delCCACACCACACACAGCACACACACACCA CACCACACACA		STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	5/18						chr17	TogoVar
STK11_chr19_1200778_1233431	1212249	AACTGGAC others(32): Show AACTGGACTCAATTTTCTTAACACCTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0212 a0001c0001t0012g0212	1	406	0.0025	-39	c.290 others(56): Show c.290+5047_290+5085delACTGGACTCAATTTTCTTAACACCTTTT TTTTTTTTTTT		STK11	ENSG00000118046.17	transcript	ENST00000326873.12	protein_coding	1/9						chr19	TogoVar
STK31_chr7_23705219_23837513	23745727	TCCTGCCA others(32): Show TCCTGCCAGTGGCTTGCAGTTTGGCCTCAGGTGTGGCAGC	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0152 a0003c0003t0001g0152	1	404	0.0025	-39	c.101 others(58): Show c.1018-6989_1018-6951delCCTGCCAGTGGCTTGCAGTTTGGCCT CAGGTGTGGCAGC		STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	8/23						chr7	TogoVar
STK38L_chr12_27239286_27330959	27240377	ATATATAT others(32): Show ATATATATATTACATATATAACTATGTATAGTTATATAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18975.hp1 NA18995.hp2 others(3): Show NA18948.hp1 NA18975.hp1 NA18995.hp2 NA19066.hp2 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0044 a0001c0001t0003g0047 others(2): Show a0001c0001t0003g0008 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0080 a0001c0001t0003g0081	6	374	0.0160	-39	c.-39 others(50): Show c.-3966_-3928delTATATATATTACATATATAACTATGTATAGTTAT ATAGT		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding					3908		chr12	TogoVar
STON1_chr2_48525154_48603513	48564468	TTCTTCTT others(32): Show TTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	376	0.0027	-39	c.-47 others(58): Show c.-47-16117_-47-16079delCTTCTTCTTCTTTCTTCTTCTTCTTC TTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STX19_chr3_94009365_94033597	94029978	ATATACAC others(32): Show ATATACACAAATACATAAACCAGTCAATAGCATTGAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	392	0.0026	-39	c.-16 others(50): Show c.-1664_-1626delATATTCAATGCTATTGACTGGTTTATGTATTTGT GTATA		STX19	ENSG00000178750.3	transcript	ENST00000315099.3	protein_coding					1382		chr3	TogoVar
STYXL1_chr7_75991342_76053000	76005820	GGAGGAGG others(32): Show GGAGGAGGAAGAGAGAGGAGGAGGAAGAGAGAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp2 NA18951.hp2 others(2): Show HG02922.hp1 HG03540.hp2 NA18951.hp2 NA19068.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0003t0009 a0001c0002t0002 a0001c0003t0001 a0001c0003t0009	a0001c0002t0002g0099 a0001c0002t0002g0132 a0001c0003t0001g0254 others(2): Show a0001c0002t0002g0099 a0001c0002t0002g0132 a0001c0003t0001g0254 a0001c0003t0001g0261 a0001c0003t0009g0350	5	356	0.0140	-39	c.454 others(54): Show c.454-455_454-417delTCTCCTCCTCTCTCTTCCTCCTCCTCTCTC TTCCTCCTC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	5/8						chr7	TogoVar
SUCNR1_chr3_151868643_151889619	151887118	CCTGCCTT others(32): Show CCTGCCTTAGAAGAGCTCCTGAAGGAAGCACAAGGGAGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0012 a0001c0001t0093g0012	1	456	0.0022	-39	c.55 others(50): Show c.5571_*5609delCTGCCTTAGAAGAGCTCCTGAAGGAAGCACAAGG GAGCA		SUCNR1	ENSG00000198829.6	transcript	ENST00000362032.6	protein_coding					2500		chr3	TogoVar
SUGT1_chr13_52647836_52705909	52680330	TTATGGAA others(32): Show TTATGGAAGAGATGAGAAACAAGTGGTTTATCTTAAATAG	T T	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	310	0.0032	-39	c.900 others(54): Show c.900+176_900+214delTATGGAAGAGATGAGAAACAAGTGGTTTAT CTTAAATAG		SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding	12/12						chr13	TogoVar
SULF2_chr20_47652406_47790481	47745395	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19063.hp1 HG02622.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0156 a0001c0001t0001g0044 a0001c0001t0001g0156	2	364	0.0055	-39	c.176 others(56): Show c.176-8492_176-8454delATATATATATATATATATATATATTTTT TTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47745397	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0291 a0001c0004t0016g0291	1	364	0.0028	-39	c.176 others(56): Show c.176-8494_176-8456delATATATATATATATATATATATATATTT TTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47745399	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0275 a0001c0002t0018g0275	1	364	0.0028	-39	c.176 others(56): Show c.176-8496_176-8458delATATATATATATATATATATATATATAT TTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULT4A1_chr22_43819509_43867513	43822746	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGTGTGTGTCAGTGCTATGGCAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 NA18991.hp2 NA18992.hp2 others(1): Show HG04204.hp2 NA18991.hp2 NA18992.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0001g0186 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0186 a0001c0001t0001g0204 a0001c0001t0002g0229	4	386	0.0104	-39	c.32 others(50): Show c.3216_*3254delTTCTTGCCATAGCACTGACACACACACACACACA CACAC		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding					1762		chr22	TogoVar
SUPT20HL1_chrX_24355639_24372839	24364287	TGCTGCTG others(32): Show TGCTGCTGCTGCTGCTGCTGCTGCTCCTGCTCCTGCTCTA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19086.hp1 NA19086.hp1	a0039 a0039	a0039c0045 a0039c0045	a0039c0045t0001 a0039c0045t0001	a0039c0045t0001g0000 a0039c0045t0001g0000	1	316	0.0032	-39	c.154 others(48): Show c.1543_1581delGCTGCTGCTCCTGCTCCTGCTCTAGCTGCTGCTGCT GCT	p.Ala others(13): Show p.Ala515_Ala527del	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding	1/1	3665/7201	1543/2664	515/887		INFO_REALIGN_3_PRIME	chrX	TogoVar
SVEP1_chr9_110360248_110584741	110544795	TATTTGAA others(32): Show TATTTGAAGATGTACAATAAATTATTTGTTAACTATAGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(78): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01496.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03239.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0006 a0008 a0010 a0012 a0013 a0014 a0015 a0016 a0019 a0026 a0033 a0038 a0050 a0056 a0057 a0058 a0095 a0096 a0098 a0101 a0104 a0105 a0106 a0107 a0108 a0109	a0001c0002 a0002c0001 a0003c0004 others(30): Show a0001c0002 a0002c0001 a0003c0004 a0003c0032 a0003c0126 a0006c0003 a0008c0008 a0010c0013 a0012c0009 a0012c0157 a0013c0070 a0014c0012 a0015c0011 a0016c0014 a0019c0015 a0026c0124 a0033c0030 a0038c0043 a0038c0156 a0050c0051 a0056c0042 a0057c0078 a0058c0044 a0095c0125 a0096c0112 a0098c0127 a0101c0121 a0104c0132 a0105c0129 a0106c0109 a0107c0077 a0108c0076 a0109c0075	a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 others(40): Show a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0003c0004t0001 a0003c0032t0001 a0003c0126t0001 a0006c0003t0001 a0006c0003t0002 a0006c0003t0003 a0008c0008t0001 a0008c0008t0002 a0010c0013t0001 a0010c0013t0003 a0012c0009t0001 a0012c0157t0006 a0013c0070t0002 a0014c0012t0002 a0014c0012t0003 a0015c0011t0001 a0015c0011t0002 a0016c0014t0004 a0019c0015t0002 a0019c0015t0003 a0026c0124t0002 a0033c0030t0002 a0038c0043t0001 a0038c0043t0003 a0038c0156t0007 a0050c0051t0001 a0056c0042t0001 a0057c0078t0002 a0058c0044t0001 a0095c0125t0001 a0096c0112t0001 a0098c0127t0001 a0101c0121t0003 a0104c0132t0003 a0105c0129t0001 a0106c0109t0001 a0107c0077t0002 a0108c0076t0001 a0109c0075t0015	a0001c0002t0002g0027 a0001c0002t0002g0163 a0001c0002t0002g0268 others(78): Show a0001c0002t0002g0027 a0001c0002t0002g0163 a0001c0002t0002g0268 a0001c0002t0002g0288 a0001c0002t0002g0336 a0002c0001t0001g0133 a0002c0001t0002g0333 a0002c0001t0004g0022 a0002c0001t0004g0023 a0002c0001t0004g0317 a0003c0004t0001g0024 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0033 a0003c0004t0001g0062 a0003c0004t0001g0143 a0003c0004t0001g0180 a0003c0004t0001g0235 a0003c0004t0001g0287 a0003c0004t0001g0334 a0003c0004t0001g0339 a0003c0032t0001g0188 a0003c0032t0001g0214 a0003c0032t0001g0253 a0003c0126t0001g0249 a0006c0003t0001g0150 a0006c0003t0001g0244 a0006c0003t0002g0149 a0006c0003t0002g0234 a0006c0003t0003g0177 a0008c0008t0001g0354 a0008c0008t0002g0217 a0010c0013t0001g0198 a0010c0013t0003g0195 a0010c0013t0003g0196 a0010c0013t0003g0344 a0012c0009t0001g0215 a0012c0009t0001g0216 a0012c0009t0001g0218 a0012c0009t0001g0219 a0012c0009t0001g0271 a0012c0009t0001g0323 a0012c0157t0006g0012 a0013c0070t0002g0155 a0014c0012t0002g0136 a0014c0012t0003g0144 a0014c0012t0003g0151 a0015c0011t0001g0148 a0015c0011t0002g0236 a0015c0011t0002g0240 a0015c0011t0002g0242 a0015c0011t0002g0243 a0016c0014t0004g0060 a0016c0014t0004g0061 a0019c0015t0002g0324 a0019c0015t0003g0134 a0019c0015t0003g0145 a0019c0015t0003g0152 a0019c0015t0003g0179 a0026c0124t0002g0241 a0033c0030t0002g0135 a0033c0030t0002g0222 a0038c0043t0001g0192 a0038c0043t0003g0269 a0038c0156t0007g0014 a0050c0051t0001g0220 a0056c0042t0001g0345 a0056c0042t0001g0346 a0057c0078t0002g0193 a0058c0044t0001g0267 a0095c0125t0001g0140 a0096c0112t0001g0190 a0098c0127t0001g0250 a0101c0121t0003g0202 a0104c0132t0003g0303 a0105c0129t0001g0212 a0106c0109t0001g0146 a0107c0077t0002g0300 a0108c0076t0001g0223 a0109c0075t0015g0172	81	362	0.2238	-39	c.964 others(56): Show c.964+1281_964+1319delGACTATAGTTAACAAATAATTTATTGTA CATCTTCAAAT		SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	3/47						chr9	TogoVar
SYCP2_chr20_59858571_59938637	59879328	TTCCTCAT others(32): Show TTCCTCATGTATCTGGTGACCTCTCACCTAAATTTCAAGA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01928.hp2 HG01934.hp2 others(6): Show HG00597.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 NA18968.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0003c0006t0001g0002 a0003c0006t0001g0091 a0003c0006t0001g0092 a0003c0006t0001g0255	9	276	0.0326	-39	c.294 others(56): Show c.2941+936_2941+974delTCTTGAAATTTAGGTGAGAGGTCACCAG ATACATGAGGA		SYCP2	ENSG00000196074.13	transcript	ENST00000357552.8	protein_coding	31/44						chr20	TogoVar
SYN3_chr22_32502820_33063381	32827750	GCCTCTGT others(32): Show GCCTCTGTCTCCCTTGGCCTTGCTGTTGCCACATACTTCT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0152 a0002c0002t0004g0152	1	184	0.0054	-39	c.711 others(58): Show c.711+37126_711+37164delAGAAGTATGTGGCAACAGCAAGGCCA AGGGAGACAGAGG		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13						chr22	TogoVar
SYNE2_chr14_63848004_64231433	64138912	TTGTGTGT others(32): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG02280.hp1 HG02970.hp2	a0017 a0017	a0017c0012 a0017c0012	a0017c0012t0001 a0017c0012t0001	a0017c0012t0001g0073 a0017c0012t0001g0097 a0017c0012t0001g0073 a0017c0012t0001g0097	2	150	0.0133	-39	c.148 others(58): Show c.14843+957_14844-963delATGTATGGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGT		SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	79/115					INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT9_chr11_7246904_7474043	7432559	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATACATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0238 a0001c0001t0007g0238	1	272	0.0037	-39	c.146 others(60): Show c.1467+11926_1467+11964delAAAAAAAAAAAAAAAAAAAAAAAT ATATATACATATATA		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT9_chr11_7246904_7474043	7432579	AAAAATAT others(32): Show AAAAATATATATACATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0179 a0001c0001t0014g0179	1	272	0.0037	-39	c.146 others(60): Show c.1467+11946_1467+11984delAAATATATATACATATATATATAT ATATATATATATATA		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
TAB3_chrX_30822442_30894254	30868511	TATAGCTT others(32): Show TATAGCTTATATATATATATATATAGCTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG02055.hp1 others(11): Show HG00735.hp2 HG01884.hp2 HG02055.hp1 HG02155.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0027 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038	a0001c0001t0002g0031 a0001c0001t0002g0118 a0001c0001t0002g0119 others(11): Show a0001c0001t0002g0031 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0004g0044 a0001c0001t0004g0086 a0001c0001t0004g0200 a0001c0001t0005g0225 a0001c0001t0009g0199 a0001c0001t0009g0210 a0001c0001t0017g0192 a0001c0001t0027g0198 a0001c0001t0034g0012 a0001c0001t0037g0212 a0001c0001t0038g0011	14	302	0.0464	-39	c.-27 others(57): Show c.-279-1001_-279-963delTATATATATATAAGCTATATATATATA TATATAAGCTAT		TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10						chrX	TogoVar
TACC2_chr10_121984163_122259542	122245937	TCAGAGGC others(32): Show TCAGAGGCTCCTAGCCACTGGCCTGGGCAGCTCTGGGCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02647.hp2 others(4): Show HG01109.hp2 HG02451.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG03130.hp2 HG03209.hp1	a0002 a0024 a0035 others(3): Show a0002 a0024 a0035 a0051 a0058 a0086	a0002c0002 a0002c0008 a0024c0070 others(4): Show a0002c0002 a0002c0008 a0024c0070 a0035c0123 a0051c0067 a0058c0054 a0086c0091	a0002c0002t0006 a0002c0008t0005 a0024c0070t0005 others(4): Show a0002c0002t0006 a0002c0008t0005 a0024c0070t0005 a0035c0123t0006 a0051c0067t0011 a0058c0054t0005 a0086c0091t0006	a0002c0002t0006g0302 a0002c0008t0005g0107 a0024c0070t0005g0116 others(4): Show a0002c0002t0006g0302 a0002c0008t0005g0107 a0024c0070t0005g0116 a0035c0123t0006g0288 a0051c0067t0011g0079 a0058c0054t0005g0166 a0086c0091t0006g0304	7	306	0.0229	-39	c.839 others(58): Show c.8393-2684_8393-2646delCTGGGCAGCTCTGGGCTCCAGAGGCT CCTAGCCACTGGC		TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr10	TogoVar
TAFA5_chr22_48484553_48756932	48736261	GCAGGAGG others(32): Show GCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCCCC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	258	0.0039	-39	c.391 others(58): Show c.391-13491_391-13453delATGAGAATCGCACTCCTAGAGTCCAT CCCCCCAGGAGGA		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48736433	TCGCACTC others(32): Show TCGCACTCCTAGGGTCCATCCCCCCAGGAGGAATGAGAAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(39): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01261.hp1 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02630.hp1 HG02735.hp2 HG04184.hp2 HG04228.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18972.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19074.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0024 a0001c0001t0035	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(39): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0002g0213 a0001c0001t0003g0206 a0001c0001t0011g0055 a0001c0001t0011g0070 a0001c0001t0016g0222 a0001c0001t0024g0202 a0001c0001t0035g0227	42	258	0.1628	-39	c.391 others(58): Show c.391-13366_391-13328delCGCACTCCTAGGGTCCATCCCCCCAG GAGGAATGAGAAC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TATDN3_chr1_212786894_212821830	212807468	GTTTCGAA others(32): Show GTTTCGAACTCCTGGGCTCAAGTGATCTGCCTGCCTTGGC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0099 a0004c0006t0001g0099	1	390	0.0026	-39	c.488 others(54): Show c.488-267_488-229delTTTCGAACTCCTGGGCTCAAGTGATCTGCC TGCCTTGGC		TATDN3	ENSG00000203705.11	transcript	ENST00000366974.9	protein_coding	7/9						chr1	TogoVar
TBC1D24_chr16_2470127_2510730	2487614	TGTGCTGG others(32): Show TGTGCTGGAGTTTGGTGTTGGAGTTTGGTGTTGGAGTTTG	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG04115.hp2 HG01515.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0051 a0001c0001t0001 a0001c0001t0051	a0001c0001t0001g0064 a0001c0001t0051g0065 a0001c0001t0001g0064 a0001c0001t0051g0065	2	256	0.0078	-39	c.-11 others(58): Show c.-115-8403_-115-8365delTTGGAGTTTGGTGTTGGAGTTTGGTG CTGGAGTTTGGTG		TBC1D24	ENSG00000162065.14	transcript	ENST00000646147.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
TBC1D32_chr6_121074494_121339480	121213485	AAAATAAA others(32): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00621.hp2 others(34): Show HG00323.hp1 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01243.hp1 HG01255.hp1 HG02055.hp2 HG02132.hp2 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp1 NA18522.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18968.hp2 NA18979.hp1 NA18980.hp1 NA18992.hp2 NA19010.hp1 NA19057.hp1 NA19079.hp1 NA19088.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0012	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0009 a0003c0004 a0005c0007 a0006c0008 a0012c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0003t0006 a0001c0003t0010 a0001c0003t0027 a0001c0006t0001 a0002c0002t0013 a0002c0009t0002 a0003c0004t0003 a0005c0007t0012 a0006c0008t0017 a0012c0019t0019	a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0130 others(34): Show a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0018g0145 a0001c0003t0006g0242 a0001c0003t0006g0243 a0001c0003t0006g0244 a0001c0003t0006g0246 a0001c0003t0006g0248 a0001c0003t0006g0249 a0001c0003t0010g0238 a0001c0003t0010g0239 a0001c0003t0010g0240 a0001c0003t0010g0241 a0001c0003t0027g0247 a0001c0006t0001g0099 a0001c0006t0001g0122 a0001c0006t0001g0133 a0002c0002t0013g0061 a0002c0009t0002g0278 a0003c0004t0003g0016 a0003c0004t0003g0020 a0005c0007t0012g0292 a0006c0008t0017g0074 a0006c0008t0017g0075 a0012c0019t0019g0285	37	292	0.1267	-39	c.248 others(58): Show c.2482-8361_2482-8323delATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTT		TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31						chr6	TogoVar
TBCA_chr5_77686166_77781339	77760865	TCTCTGCC others(32): Show TCTCTGCCTGGCCACCCATCGTCTGGGATGTGAGGAGCCC	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	354	0.0028	-39	c.53+ others(56): Show c.53+15301_53+15339delGGGCTCCTCACATCCCAGACGATGGGTG GCCAGGCAGAG		TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding	1/3						chr5	TogoVar
TBCD_chr17_82747065_82950914	82903750	TTCCCTGG others(32): Show TTCCCTGGTCTCTAGGTGGCTCGCACCTGCCACACGACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG03209.hp1 others(1): Show HG02615.hp1 HG02886.hp1 HG03209.hp1 HG03225.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0091 a0002c0007t0005g0132 a0002c0007t0005g0155 others(1): Show a0002c0007t0005g0091 a0002c0007t0005g0132 a0002c0007t0005g0155 a0002c0007t0005g0167	4	318	0.0126	-39	c.180 others(56): Show c.1804+597_1804+635delAGGTGGCTCGCACCTGCCACACGACACT CCCTGGTCTCT		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	19/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBX1_chr22_19755778_19772334	19766760	CCAGCCGC others(32): Show CCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0020 a0005c0012t0001g0020	1	432	0.0023	-39	c.141 others(48): Show c.1410_1448delAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGC CGC	p.Ala others(13): Show p.Ala471_Ala483del	TBX1	ENSG00000184058.16	transcript	ENST00000649276.2	protein_coding	7/7	1476/2048	1410/1515	470/504		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCERG1L_chr10_131087391_131316721	131228310	CGGAGTCT others(32): Show CGGAGTCTTCCCTCCAGACAGGCATTTCCTCAAGGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01884.hp1 others(9): Show HG00438.hp2 HG00621.hp1 HG01884.hp1 HG02056.hp2 HG02135.hp2 HG02165.hp2 HG02293.hp1 HG03225.hp2 NA18942.hp1 NA18946.hp1 NA19000.hp2 NA19005.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0004c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0003t0003 a0001c0015t0002 a0004c0006t0003	a0001c0001t0002g0266 a0001c0001t0004g0024 a0001c0001t0006g0072 others(9): Show a0001c0001t0002g0266 a0001c0001t0004g0024 a0001c0001t0006g0072 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0007g0261 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0173 a0001c0003t0003g0006 a0001c0015t0002g0323 a0004c0006t0003g0128	12	324	0.0370	-39	c.856 others(58): Show c.856+31910_856+31948delAGAGACCTTGAGGAAATGCCTGTCTG GAGGGAAGACTCC		TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11						chr10	TogoVar

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