Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHEK2_chr22_28682743_28746820	28706298	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp2 others(111): Show HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03225.hp1 HG03491.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0004 a0003c0007 others(2): Show a0001c0001 a0001c0004 a0003c0007 a0004c0008 a0005c0009	a0001c0001t0001 a0001c0004t0001 a0003c0007t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0003c0007t0001 a0004c0008t0001 a0005c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0048 a0001c0001t0001g0085 others(111): Show a0001c0001t0001g0005 a0001c0001t0001g0048 a0001c0001t0001g0085 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0204 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0004t0001g0270 a0003c0007t0001g0297 a0004c0008t0001g0150 a0005c0009t0001g0293	114	384	0.2969	-6	c.847 others(23): Show c.847-2738_847-2733delTGTGTG	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28718883	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02109.hp2 HG02559.hp2 others(8): Show HG01192.hp1 HG02109.hp2 HG02559.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03491.hp1 HG04199.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0143 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0346 a0001c0001t0001g0362	11	384	0.0287	-6	c.683 others(21): Show c.683+506_683+511delGTGTGT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	5/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28729540	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02698.hp1 HG03491.hp1 others(4): Show HG01943.hp1 HG02698.hp1 HG03491.hp1 NA18948.hp2 NA18982.hp1 NA18982.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0171 others(4): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0287	7	384	0.0182	-6	c.320 others(23): Show c.320-4179_320-4174delTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730359	GAAAGGA GAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG02486.hp1 others(12): Show HG01346.hp2 HG01358.hp1 HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03927.hp1 NA19043.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0102 others(12): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0102 a0001c0001t0001g0138 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241	15	384	0.0391	-6	c.319 others(23): Show c.319+4038_319+4043delTCCTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHFR_chr12_132827356_132892605	132850964	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG01934.hp1 others(9): Show HG00544.hp2 HG00733.hp2 HG01934.hp1 HG02818.hp2 HG02896.hp1 HG03130.hp2 HG03486.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007 a0006c0014	a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 others(5): Show a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0004t0003 a0002c0002t0002 a0002c0002t0136 a0002c0007t0002 a0006c0014t0002	a0001c0001t0089g0282 a0001c0001t0090g0039 a0001c0001t0091g0065 others(9): Show a0001c0001t0089g0282 a0001c0001t0090g0039 a0001c0001t0091g0065 a0001c0004t0003g0197 a0002c0002t0002g0050 a0002c0002t0002g0072 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0136g0085 a0002c0007t0002g0064 a0002c0007t0002g0069 a0006c0014t0002g0049	12	378	0.0318	-6	c.149 others(23): Show c.1492+648_1492+653delATATAT	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	12/17			chr12	TogoVar
CHGB_chr20_5906510_5930353	5918810	TAAAAAA TAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG02280.hp1 others(5): Show HG01243.hp1 HG01256.hp1 HG02280.hp1 HG02717.hp1 HG03579.hp2 NA18986.hp1 NA19043.hp2 NA19072.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0004 a0007c0007 a0002c0002 a0004c0004 a0007c0007	a0002c0002t0002 a0004c0004t0001 a0007c0007t0001 a0002c0002t0002 a0004c0004t0001 a0007c0007t0001	a0002c0002t0002g0163 a0002c0002t0002g0173 a0002c0002t0002g0182 others(4): Show a0002c0002t0002g0163 a0002c0002t0002g0173 a0002c0002t0002g0182 a0004c0004t0001g0048 a0004c0004t0001g0136 a0004c0004t0001g0137 a0007c0007t0001g0159	8	440	0.0182	-6	c.190 others(23): Show c.190+1921_190+1926delAAAAAA	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHGB_chr20_5906510_5930353	5926096	TATATAC TATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01993.hp2 HG02148.hp2 others(3): Show HG01934.hp1 HG01993.hp2 HG02148.hp2 HG02300.hp2 HG02572.hp1 NA18999.hp2	a0004 a0007 a0008 a0004 a0007 a0008	a0004c0004 a0007c0007 a0008c0008 a0004c0004 a0007c0007 a0008c0008	a0004c0004t0001 a0007c0007t0004 a0008c0008t0001 a0004c0004t0001 a0007c0007t0004 a0008c0008t0001	a0004c0004t0001g0010 a0004c0004t0001g0183 a0004c0004t0001g0189 others(2): Show a0004c0004t0001g0010 a0004c0004t0001g0183 a0004c0004t0001g0189 a0007c0007t0004g0147 a0008c0008t0001g0187	6	440	0.0136	-6	c.10 others(17): Show c.1048_*1053delATATAC	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		744		chr20	TogoVar
CHI3L1_chr1_203173931_203191704	203187301	CTTTTTT CTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02615.hp2 HG02886.hp2 others(5): Show HG02080.hp1 HG02615.hp2 HG02886.hp2 HG03041.hp1 NA18949.hp1 NA18952.hp2 NA18987.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0045 a0001c0001t0001g0051	8	468	0.0171	-6	c.-68 others(15): Show c.-684_-679delAAAAAA	CHI3L1	ENSG00000133048.13	transcript	ENST00000255409.8	protein_coding		598		chr1	TogoVar
CHIC1_chrX_73558197_73692111	73655630	ATAGTGT ATAGTGT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	208	0.0048	-6	c.508 others(25): Show c.508-23695_508-23690delTAGTGT	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5			chrX	TogoVar
CHIC1_chrX_73558197_73692111	73655647	GTGTATA GTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01123.hp1 others(6): Show HG00735.hp1 HG00741.hp1 HG01123.hp1 HG01255.hp1 HG01346.hp1 HG01433.hp1 HG01517.hp1 HG01884.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0107 a0001c0001t0001g0166 a0001c0001t0012g0052	9	208	0.0433	-6	c.508 others(25): Show c.508-23677_508-23672delGTATAT	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIC1_chrX_73558197_73692111	73655649	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp1 HG01515.hp1 others(8): Show HG01123.hp2 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG02145.hp1 HG02615.hp2 HG02809.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0078 a0001c0001t0002g0178 a0001c0001t0002g0179 others(8): Show a0001c0001t0002g0078 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0202 a0001c0001t0003g0177 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013	11	208	0.0529	-6	c.508 others(25): Show c.508-23660_508-23655delTATATA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIC2_chr4_54004789_54069605	54058553	CACACAT CACACAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02622.hp2 others(14): Show HG02258.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0148	17	244	0.0697	-6	c.119 others(23): Show c.119+5623_119+5628delATGTGT	CHIC2	ENSG00000109220.11	transcript	ENST00000263921.8	protein_coding	1/5			chr4	TogoVar
CHID1_chr11_862859_915810	894121	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG03130.hp1 others(3): Show HG02055.hp1 HG02258.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0012 a0001c0001t0003 a0002c0002t0001 a0002c0002t0012	a0001c0001t0003g0017 a0001c0001t0003g0075 a0002c0002t0001g0015 others(1): Show a0001c0001t0003g0017 a0001c0001t0003g0075 a0002c0002t0001g0015 a0002c0002t0012g0047	6	386	0.0155	-6	c.609 others(21): Show c.609-608_609-603delTTTTTT	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	7/12			chr11	TogoVar
CHID1_chr11_862859_915810	912727	CCAGCTA CCAGCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG02083.hp2 others(5): Show HG00438.hp2 HG00597.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 NA19055.hp1 NA19070.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0024 a0001c0001t0001g0112 a0001c0001t0001g0147 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0112 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0023g0151	8	386	0.0207	-6	c.-20 others(17): Show c.-2002_-1997delTAGCTG	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding		1918		chr11	TogoVar
CHKA_chr11_68047859_68126388	68084396	ATATACG ATATACG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02135.hp1 NA18612.hp1 others(3): Show HG02015.hp1 HG02135.hp1 NA18612.hp1 NA18961.hp2 NA19002.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0015 others(3): Show a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0013g0052	6	276	0.0217	-6	c.463 others(23): Show c.463-2945_463-2940delCGTATA	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding	2/11			chr11	TogoVar
CHKA_chr11_68047859_68126388	68098271	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(128): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp1 NA18966.hp2 NA18970.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18989.hp2 NA18993.hp1 NA19011.hp1 NA19058.hp1 NA19064.hp2 NA19067.hp1 NA19080.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0001g0157 a0001c0001t0001g0158 others(127): Show a0001c0001t0001g0001 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0001t0004g0135 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0010g0176 a0001c0001t0010g0235 a0001c0001t0010g0252 a0001c0001t0012g0264 a0001c0001t0012g0265 a0001c0001t0017g0134 a0001c0001t0018g0246 a0001c0001t0019g0168 a0001c0001t0020g0200 a0001c0001t0021g0159 a0001c0001t0022g0224 a0001c0001t0024g0216 a0001c0001t0025g0195 a0001c0001t0026g0240	131	276	0.4746	-6	c.351 others(23): Show c.351-1147_351-1142delTTTTTT	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding	1/11			chr11	TogoVar
CHKA_chr11_68047859_68126388	68125916	GCGCACA GCGCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01433.hp2 others(13): Show HG00280.hp2 HG00323.hp2 HG01433.hp2 HG01981.hp2 HG02258.hp1 HG02572.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03579.hp1 NA18980.hp1 NA18981.hp2 NA19011.hp2 NA19067.hp2 NA19080.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0002g0024 a0001c0001t0003g0018 a0001c0001t0003g0035 others(13): Show a0001c0001t0002g0024 a0001c0001t0003g0018 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0009g0008 a0001c0001t0009g0064 a0001c0001t0009g0120 a0001c0001t0009g0121	16	276	0.0580	-6	c.-47 others(17): Show c.-4745_-4740delTGTGCG	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding		4529		chr11	TogoVar
CHL1_chr3_191763_414417	242608	TAAAATA TAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(121): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18995.hp1 NA19003.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0012 a0015 a0021 a0024	a0001c0001 a0001c0019 a0002c0002 others(10): Show a0001c0001 a0001c0019 a0002c0002 a0002c0028 a0003c0003 a0004c0004 a0005c0005 a0006c0008 a0008c0007 a0012c0012 a0015c0029 a0021c0015 a0024c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0029 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0019t0045 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0002t0023 a0002c0002t0056 a0002c0028t0009 a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0058 a0004c0004t0001 a0004c0004t0016 a0005c0005t0001 a0005c0005t0003 a0005c0005t0055 a0006c0008t0020 a0008c0007t0001 a0012c0012t0001 a0015c0029t0038 a0021c0015t0001 a0024c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(121): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0168 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0003g0210 a0001c0001t0003g0255 a0001c0001t0003g0262 a0001c0001t0005g0160 a0001c0001t0005g0242 a0001c0001t0011g0214 a0001c0001t0018g0264 a0001c0001t0021g0179 a0001c0001t0025g0103 a0001c0001t0029g0091 a0001c0001t0039g0181 a0001c0001t0040g0162 a0001c0001t0042g0159 a0001c0001t0043g0166 a0001c0001t0044g0149 a0001c0019t0045g0272 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0125 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0164 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0222 a0002c0002t0001g0286 a0002c0002t0002g0123 a0002c0002t0002g0250 a0002c0002t0003g0256 a0002c0002t0004g0008 a0002c0002t0004g0010 a0002c0002t0014g0104 a0002c0002t0014g0105 a0002c0002t0023g0145 a0002c0002t0056g0040 a0002c0028t0009g0085 a0003c0003t0001g0249 a0003c0003t0004g0009 a0003c0003t0004g0281 a0003c0003t0004g0284 a0003c0003t0004g0285 a0003c0003t0005g0006 a0003c0003t0007g0239 a0003c0003t0007g0247 a0003c0003t0007g0248 a0003c0003t0058g0208 a0004c0004t0001g0288 a0004c0004t0016g0126 a0005c0005t0001g0156 a0005c0005t0003g0209 a0005c0005t0003g0257 a0005c0005t0003g0261 a0005c0005t0055g0259 a0006c0008t0020g0038 a0008c0007t0001g0243 a0008c0007t0001g0245 a0012c0012t0001g0141 a0015c0029t0038g0163 a0021c0015t0001g0190 a0024c0016t0001g0027	124	290	0.4276	-6	c.-17 others(25): Show c.-174-2001_-174-1996delATAAAA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	314329	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(38): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00558.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp2 HG01496.hp2 HG01981.hp2 HG02074.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp2 HG02738.hp1 HG02738.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03490.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp2 NA18973.hp1 NA18973.hp2 NA18995.hp2 NA19007.hp2 NA19079.hp2 NA19086.hp2 NA20805.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0016	a0001c0001 a0002c0002 a0008c0007 others(2): Show a0001c0001 a0002c0002 a0008c0007 a0009c0010 a0016c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0008c0007t0001 a0009c0010t0001 a0016c0026t0002	a0001c0001t0001g0028 a0001c0001t0001g0177 a0001c0001t0001g0206 others(38): Show a0001c0001t0001g0028 a0001c0001t0001g0177 a0001c0001t0001g0206 a0001c0001t0001g0269 a0001c0001t0002g0051 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0198 a0001c0001t0002g0230 a0001c0001t0003g0276 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0015g0120 a0001c0001t0018g0246 a0001c0001t0022g0266 a0001c0001t0029g0091 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0118 a0002c0002t0001g0150 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0286 a0002c0002t0002g0013 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0003g0001 a0002c0002t0003g0048 a0002c0002t0014g0104 a0002c0002t0014g0105 a0008c0007t0001g0243 a0009c0010t0001g0047 a0016c0026t0002g0052	41	290	0.1414	-6	c.-94 others(23): Show c.-94-5318_-94-5313delATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	322645	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG01167.hp1 others(13): Show HG00558.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG02055.hp2 HG02258.hp1 HG02486.hp1 HG02630.hp1 HG02809.hp1 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp1 HG03490.hp1 NA20129.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0008 others(1): Show a0002c0002 a0003c0003 a0006c0008 a0006c0024	a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0041 a0002c0002t0056 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0006c0008t0024 a0006c0024t0013	a0002c0002t0001g0146 a0002c0002t0001g0173 a0002c0002t0001g0174 others(13): Show a0002c0002t0001g0146 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0222 a0002c0002t0001g0275 a0002c0002t0002g0250 a0002c0002t0007g0244 a0002c0002t0041g0280 a0002c0002t0056g0040 a0003c0003t0001g0106 a0003c0003t0001g0249 a0003c0003t0002g0096 a0003c0003t0003g0014 a0006c0008t0024g0252 a0006c0008t0024g0253 a0006c0024t0013g0037	16	290	0.0552	-6	c.91+ others(21): Show c.91+2798_91+2803delTATATA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	344466	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02622.hp2 others(5): Show HG02257.hp1 HG02451.hp1 HG02622.hp2 HG02723.hp1 HG03139.hp1 HG03225.hp2 NA18522.hp1 NA18943.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0002 a0003c0003t0005 a0003c0003t0058 others(3): Show a0002c0002t0002 a0003c0003t0005 a0003c0003t0058 a0004c0004t0003 a0004c0004t0004 a0004c0004t0008	a0002c0002t0002g0067 a0003c0003t0005g0006 a0003c0003t0058g0208 others(5): Show a0002c0002t0002g0067 a0003c0003t0005g0006 a0003c0003t0058g0208 a0004c0004t0003g0041 a0004c0004t0004g0212 a0004c0004t0008g0235 a0004c0004t0008g0236 a0004c0004t0008g0237	8	290	0.0276	-6	c.728 others(20): Show c.728-104_728-99delACACAC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	353572	GACTTGA GACTTGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp1 HG03209.hp2 HG02280.hp2 HG03130.hp1 HG03209.hp2	a0004 a0007 a0014 a0004 a0007 a0014	a0004c0004 a0007c0006 a0014c0020 a0004c0004 a0007c0006 a0014c0020	a0004c0004t0006 a0007c0006t0023 a0014c0020t0036 a0004c0004t0006 a0007c0006t0023 a0014c0020t0036	a0004c0004t0006g0088 a0007c0006t0023g0215 a0014c0020t0036g0127 a0004c0004t0006g0088 a0007c0006t0023g0215 a0014c0020t0036g0127	3	290	0.0103	-6	c.103 others(25): Show c.1034-1056_1034-1051delAACTTG	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP3_chr2_86498430_86568443	86504500	ATTTTTT ATTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG01517.hp2 others(8): Show HG00738.hp1 HG01256.hp1 HG01517.hp2 HG02015.hp2 HG02129.hp2 HG02155.hp1 HG06807.hp2 NA18942.hp1 NA18946.hp1 NA18989.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0008 a0001c0001t0020	a0001c0001t0008g0016 a0001c0001t0008g0033 a0001c0001t0008g0034 others(7): Show a0001c0001t0008g0016 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0149 a0001c0001t0008g0150 a0001c0001t0008g0151 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0020g0265	11	336	0.0327	-6	c.12 others(17): Show c.1298_*1303delAAAAAA	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	6/6	1298		chr2	TogoVar
CHMP3_chr2_86498430_86568443	86508536	TAGAAAA TAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp1 HG02080.hp2 others(7): Show HG00408.hp1 HG02056.hp1 HG02080.hp2 HG03239.hp2 HG04115.hp1 HG04184.hp1 NA18940.hp2 NA18986.hp2 NA18990.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0098 others(7): Show a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0005g0091 a0001c0001t0005g0100 a0001c0001t0005g0103	10	336	0.0298	-6	c.409 others(21): Show c.409-949_409-944delTTTTCT	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	4/5			chr2	TogoVar
CHMP4C_chr8_81727448_81764515	81734469	TACAGGC TACAGGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00609.hp1 others(29): Show HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01069.hp2 HG01099.hp2 HG01109.hp2 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02976.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03942.hp2 HG04204.hp1 NA18943.hp2 NA18947.hp2 NA18952.hp1 NA18961.hp1 NA18963.hp1 NA18983.hp2 NA18986.hp2 NA18993.hp2 NA19001.hp1 NA19003.hp2 NA19064.hp1 NA19070.hp1 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0002c0002t0007 a0003c0005t0015	a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0252 others(23): Show a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0252 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0263 a0001c0001t0005g0265 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0007g0008 a0001c0001t0007g0260 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0272 a0001c0001t0011g0253 a0001c0001t0011g0255 a0001c0001t0011g0264 a0001c0001t0015g0256 a0001c0001t0021g0254 a0001c0001t0022g0262 a0002c0002t0007g0261 a0003c0005t0015g0257	32	408	0.0784	-6	c.190 others(23): Show c.190+1655_190+1660delCAGGCA	CHMP4C	ENSG00000164695.5	transcript	ENST00000297265.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHMP5_chr9_33260049_33287070	33286931	TTTCACC TTTCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(232): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0111 a0001c0001t0003g0001 a0001c0001t0003g0080 a0001c0001t0004g0008 a0001c0001t0005g0001 a0001c0001t0006g0048 a0001c0001t0007g0001 a0001c0001t0008g0086 a0001c0002t0001g0004	235	328	0.7165	-6	c.60 others(17): Show c.6073_*6078delTTCACC	CHMP5	ENSG00000086065.14	transcript	ENST00000223500.9	protein_coding		4862		chr9	TogoVar
CHMP6_chr17_80986841_81005133	80988884	GGTGTGT GGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG02071.hp2 others(2): Show HG00423.hp2 HG00735.hp1 HG02071.hp2 HG03139.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022	a0001c0001t0001g0006 a0001c0001t0002g0057 a0001c0001t0002g0066 others(2): Show a0001c0001t0001g0006 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0003g0094 a0001c0001t0022g0092	5	438	0.0114	-6	c.-30 others(17): Show c.-3034_-3029delGTGTGT	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		2956		chr17	TogoVar
CHMP7_chr8_23238637_23266999	23240415	TTTGTTG TTTGTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(81): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00642.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18963.hp2 NA18982.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19010.hp2 NA19043.hp2 NA19057.hp1 NA19070.hp1 NA19078.hp1 NA19090.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0030 a0001c0001t0033 a0001c0003t0001 a0001c0004t0031 a0005c0005t0003	a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0155 others(62): Show a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0015g0113 a0001c0001t0015g0149 a0001c0001t0015g0160 a0001c0001t0016g0125 a0001c0001t0017g0161 a0001c0001t0017g0162 a0001c0001t0021g0099 a0001c0001t0021g0133 a0001c0001t0030g0112 a0001c0001t0033g0016 a0001c0003t0001g0013 a0001c0004t0031g0110 a0005c0005t0003g0151	84	438	0.1918	-6	c.-38 others(17): Show c.-3869_-3864delTTGTTG	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		3221		chr8	TogoVar
CHMP7_chr8_23238637_23266999	23250620	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03139.hp2 NA18965.hp1 others(1): Show HG00099.hp1 HG03139.hp2 NA18965.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0292 a0001c0001t0004g0226 a0001c0001t0005g0291 others(1): Show a0001c0001t0002g0292 a0001c0001t0004g0226 a0001c0001t0005g0291 a0001c0001t0005g0293	4	438	0.0091	-6	c.471 others(23): Show c.471+1279_471+1284delGTGTGT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHMP7_chr8_23238637_23266999	23261080	AATACTT AATACTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01169.hp2 others(6): Show HG01069.hp1 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG01517.hp2 HG02293.hp1 HG04184.hp2 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 others(1): Show a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028	a0001c0001t0017g0161 a0001c0001t0017g0162 a0001c0001t0017g0169 others(5): Show a0001c0001t0017g0161 a0001c0001t0017g0162 a0001c0001t0017g0169 a0001c0001t0019g0244 a0001c0001t0019g0245 a0001c0001t0019g0246 a0001c0001t0023g0044 a0001c0001t0028g0088	9	438	0.0206	-6	c.48 others(15): Show c.483_*488delTACTTA	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding	11/11	483	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHM_chrX_85856180_86052558	85868019	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0118 a0001c0003t0005g0118	1	245	0.0041	-6	c.177 others(25): Show c.1771-3204_1771-3199delCACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85879301	GTTATAC GTTATAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02896.hp1 others(3): Show HG01891.hp2 HG02280.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0009 a0001c0001t0011 a0002c0005t0011 a0001c0001t0009 a0001c0001t0011 a0002c0005t0011	a0001c0001t0009g0196 a0001c0001t0009g0199 a0001c0001t0009g0210 others(3): Show a0001c0001t0009g0196 a0001c0001t0009g0199 a0001c0001t0009g0210 a0001c0001t0011g0219 a0002c0005t0011g0228 a0002c0005t0011g0229	6	245	0.0245	-6	c.151 others(23): Show c.1511-244_1511-239delGTATAA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	12/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85897306	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0196 a0001c0001t0009g0199 a0001c0001t0009g0196 a0001c0001t0009g0199	2	245	0.0082	-6	c.141 others(25): Show c.1414-3028_1414-3023delACACAC	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	11/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85904837	CCATATT CCATATT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0006 a0008c0011t0006	a0008c0011t0006g0230 a0008c0011t0006g0230	1	245	0.0041	-6	c.124 others(25): Show c.1245-3655_1245-3650delAATATG	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85912564	GCACTCT GCACTCT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0245 a0001c0001t0018g0245	1	245	0.0041	-6	c.116 others(25): Show c.1167-1232_1167-1227delAGAGTG	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913334	AAGAAAG AAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0223 a0001c0001t0006g0223	1	245	0.0041	-6	c.116 others(25): Show c.1167-2002_1167-1997delCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02896.hp1 HG02897.hp2 others(2): Show HG00738.hp1 HG02896.hp1 HG02897.hp2 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0009 a0002c0005t0011 a0001c0001t0001 a0001c0001t0009 a0002c0005t0011	a0001c0001t0001g0044 a0001c0001t0001g0217 a0001c0001t0009g0210 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0217 a0001c0001t0009g0210 a0002c0005t0011g0228 a0002c0005t0011g0229	5	245	0.0204	-6	c.116 others(25): Show c.1166+6169_1166+6174delATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85958830	GCCCAGT GCCCAGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp2 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0211 a0001c0001t0016g0212 a0001c0001t0004g0211 a0001c0001t0016g0212	2	245	0.0082	-6	c.819 others(19): Show c.819+25_819+30delACTGGG	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	6/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85973300	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	245	0.0041	-6	c.314 others(23): Show c.314+5461_314+5466delTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	4/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85976875	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00735.hp2 others(32): Show HG00323.hp2 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG02056.hp1 HG02129.hp1 HG02647.hp1 HG02723.hp2 HG03540.hp1 HG04199.hp1 NA18940.hp1 NA18949.hp2 NA18953.hp1 NA18957.hp1 NA18967.hp1 NA18969.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19055.hp1 NA19060.hp1 NA19088.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0047 a0001c0001t0006g0220 a0001c0001t0006g0221 others(32): Show a0001c0001t0001g0047 a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073	35	245	0.1429	-6	c.314 others(23): Show c.314+1886_314+1891delGTGTGT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	4/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86021126	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02970.hp1 others(3): Show HG02647.hp1 HG02723.hp2 HG02970.hp1 HG03453.hp2 HG03540.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0001t0018	a0001c0001t0004g0211 a0001c0001t0006g0220 a0001c0001t0006g0221 others(3): Show a0001c0001t0004g0211 a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0006g0223 a0001c0001t0016g0212 a0001c0001t0018g0245	6	245	0.0245	-6	c.116 others(23): Show c.116+6359_116+6364delTATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86026102	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18974.hp1 HG04184.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0088 a0001c0001t0018g0245 a0001c0001t0003g0088 a0001c0001t0018g0245	2	245	0.0082	-6	c.116 others(23): Show c.116+1383_116+1388delAAAAAA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86041726	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01261.hp1 others(21): Show HG01106.hp1 HG01243.hp1 HG01261.hp1 HG01891.hp1 HG02080.hp1 HG02145.hp1 HG02280.hp2 HG02602.hp1 HG02630.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0005 a0001c0001 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0008t0013 a0002c0005t0011	a0001c0001t0001g0093 a0001c0001t0001g0113 a0001c0001t0001g0114 others(21): Show a0001c0001t0001g0093 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0007g0075 a0001c0001t0008g0188 a0001c0001t0008g0192 a0001c0001t0008g0193 a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0001t0009g0196 a0001c0001t0009g0199 a0001c0001t0020g0195 a0001c0008t0013g0190 a0002c0005t0011g0228 a0002c0005t0011g0229	24	245	0.0980	-6	c.49+ others(21): Show c.49+5752_49+5757delTATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	1/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86045928	GTCCATT GTCCATT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	245	0.0041	-6	c.49+ others(21): Show c.49+1550_49+1555delAATGGA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	1/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86045940	TTTCCAG TTTCCAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	245	0.0041	-6	c.49+ others(21): Show c.49+1538_49+1543delCTGGAA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	1/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174807446	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00639.hp2 others(12): Show HG00280.hp2 HG00609.hp1 HG00639.hp2 HG01192.hp1 HG03139.hp1 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 NA18968.hp2 NA18979.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0095 a0001c0001t0001g0147 a0001c0001t0001g0181 others(12): Show a0001c0001t0001g0095 a0001c0001t0001g0147 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0161 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0012g0125	15	276	0.0544	-6	c.110 others(25): Show c.1102+1453_1102+1458delCACACA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	11/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174809865	ACTGTAC ACTGTAC	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19066.hp1 NA19068.hp2 others(1): Show NA18968.hp2 NA19066.hp1 NA19068.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0248 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0248 a0001c0001t0001g0249	4	276	0.0145	-6	c.965 others(21): Show c.965-829_965-824delGTACAG	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	10/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174818918	CTTTATG CTTTATG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02258.hp1 HG02300.hp2 others(11): Show HG01361.hp2 HG02258.hp1 HG02300.hp2 HG02698.hp1 HG02735.hp1 HG02970.hp1 HG03098.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008	a0001c0001t0006g0027 a0001c0001t0006g0031 a0001c0001t0006g0034 others(11): Show a0001c0001t0006g0027 a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0007g0030 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0008g0029 a0001c0001t0008g0032	14	276	0.0507	-6	c.712 others(23): Show c.712+5510_712+5515delCATAAA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	8/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174943111	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp1 HG03516.hp1 HG02559.hp2 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259	3	276	0.0109	-6	c.114 others(23): Show c.114+1771_114+1776delAAAAAA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	3/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174943182	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(90): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp2 HG03017.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18956.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19055.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0095 others(90): Show a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0009g0001 a0001c0001t0015g0261 a0002c0002t0001g0212	93	276	0.3370	-6	c.114 others(23): Show c.114+1700_114+1705delCACACA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	3/12			chr2	TogoVar

Search by Variant

Search

Search Results