Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALOXE3_chr17_8090900_8123514	8107926	AAAGAAAG others(65): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGA GAGAGAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0385 a0001c0001t0004g0385	1	422	0.0024	-72	c.168 others(89): Show c.1684+470_1684+541delCTTCCTTTCTTTCTTTCTCTCTCTCTCT CTCTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMPD3_chr11_10450264_10512579	10451763	CCCCTGTT others(65): Show CCCCTGTTGGCTTTCCCTCAGGATGCAGTGACCAACATTTGGCCATCTTC ATGGAAAAGCTGCCTGCAGCTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0212 a0001c0005t0001g0212	1	390	0.0026	-72	c.-36 others(83): Show c.-3690_-3619delCCCTGTTGGCTTTCCCTCAGGATGCAGTGACCAA CATTTGGCCATCTTCATGGAAAAGCTGCCTGCAGCTGG	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding		3500		chr11	TogoVar
AMPH_chr7_38378704_38636373	38571014	TATATATT others(65): Show TATATATTCATATATTGAATATATATAGAATATATATATTCATATATTGA ATATATATAGAATATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01261.hp1 others(27): Show HG00099.hp2 HG00280.hp1 HG01261.hp1 HG01433.hp1 HG02071.hp1 HG02135.hp1 HG02148.hp1 HG02280.hp2 HG02523.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 NA18612.hp2 NA18945.hp2 NA18957.hp2 NA18964.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19076.hp2 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0008 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0005t0001 a0001c0005t0004 a0002c0004t0005 a0002c0008t0002 a0003c0006t0004	a0001c0001t0001g0124 a0001c0001t0001g0173 a0001c0001t0001g0174 others(27): Show a0001c0001t0001g0124 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0262 a0001c0001t0003g0062 a0001c0001t0003g0103 a0001c0001t0003g0159 a0001c0001t0003g0195 a0001c0001t0003g0231 a0001c0001t0003g0288 a0001c0001t0004g0006 a0001c0002t0002g0078 a0001c0002t0002g0191 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0005t0001g0257 a0001c0005t0004g0139 a0002c0004t0005g0175 a0002c0004t0005g0214 a0002c0004t0005g0264 a0002c0004t0005g0265 a0002c0008t0002g0116 a0002c0008t0002g0181 a0003c0006t0004g0007	30	288	0.1042	-72	c.70- others(89): Show c.70-36075_70-36004delGAATATATATATTCTATATATATTCAAT ATATGAATATATATATTCTATATATATTCAATATATGAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANKFN1_chr17_56148475_56522016	56220780	CAGGAAGG others(65): Show CAGGAAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGAAGGGAGGGAGGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02451.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0012 a0001c0001 a0002c0002 a0002c0012	a0001c0001t0002 a0002c0002t0006 a0002c0012t0005 a0001c0001t0002 a0002c0002t0006 a0002c0012t0005	a0001c0001t0002g0084 a0002c0002t0006g0083 a0002c0012t0005g0081 others(1): Show a0001c0001t0002g0084 a0002c0002t0006g0083 a0002c0012t0005g0081 a0002c0012t0005g0082	4	112	0.0357	-72	c.13- others(87): Show c.13-7125_13-7054delGAGGAAGGGAGGGAGGGAGGAAGGAAGGAA GGAAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGG	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANOS1_chrX_8523874_8737137	8725567	TATACATA others(65): Show TATACATATATACAGATATATATATACAGATATATATATACAGATATATA TATATACAGATATATATATACAG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0088 a0002c0002t0004g0088	1	231	0.0043	-72	c.207 others(89): Show c.207+6191_207+6262delCTGTATATATATATCTGTATATATATAT ATCTGTATATATATATCTGTATATATATATCTGTATATATGTAT	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	1/13			chrX	TogoVar
ANTXR1_chr2_69008179_69254327	69096274	AAGGAAGG others(65): Show AAGGAAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02300.hp2 HG03490.hp2 others(2): Show HG01257.hp1 HG02300.hp2 HG03490.hp2 HG04228.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0085 a0001c0001t0005g0024	5	206	0.0243	-72	c.703 others(89): Show c.703+5363_703+5434delAAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR1_chr2_69008179_69254327	69096282	AAGGAAGG others(65): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02622.hp2 HG03130.hp2 others(4): Show HG01978.hp1 HG02622.hp2 HG03130.hp2 HG03516.hp2 NA18950.hp1 NA19080.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 a0001c0003t0007	a0001c0001t0001g0137 a0001c0001t0002g0165 a0001c0001t0002g0169 others(4): Show a0001c0001t0001g0137 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0003g0121 a0001c0001t0003g0195 a0001c0001t0030g0164 a0001c0003t0007g0084	7	206	0.0340	-72	c.703 others(89): Show c.703+5387_703+5458delGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA2_chr15_60342151_60402986	60349853	TGAAGGCA others(65): Show TGAAGGCAGGGAGGCAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGCAGGG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp2 HG03453.hp2 others(1): Show HG02572.hp2 HG02965.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0253	4	334	0.0120	-72	c.838 others(87): Show c.838-728_838-657delCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCTCCTGCCTCCTTGCCTTCCCCTGCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26528284	ACTGCATT others(65): Show ACTGCATTAACCCCATAGCTCTAGCCTGACTGGCTGCTCACTAGTGCTCC AAAGACACCTCTGTGCCTTTGTG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	358	0.0028	-72	c.814 others(89): Show c.814-5153_814-5082delTGCATTAACCCCATAGCTCTAGCCTGAC TGGCTGCTCACTAGTGCTCCAAAGACACCTCTGTGCCTTTGTGC	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
AQP8_chr16_25211947_25233932	25216151	TTTTCTTT others(65): Show TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG01109.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0003t0003 a0002c0002t0003 a0002c0003t0003	a0002c0002t0003g0071 a0002c0003t0003g0166 a0002c0002t0003g0071 a0002c0003t0003g0166	2	420	0.0048	-72	c.-89 others(81): Show c.-894_-823delTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		795		chr16	TogoVar
ARG1_chr6_131568226_131589329	131589100	TCAGGAGA others(65): Show TCAGGAGAAGCAGGACCTCCTTTACTCATAACACAACAACCTCTCTGCTC ATATTTCAGCAGCCATATCCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	420	0.0024	-72	c.51 others(83): Show c.5193_*5264delCAGGAGAAGCAGGACCTCCTTTACTCATAACACA ACAACCTCTCTGCTCATATTTCAGCAGCCATATCCCAC	ARG1	ENSG00000118520.16	transcript	ENST00000368087.8	protein_coding		4772		chr6	TogoVar
ARHGAP30_chr1_161041946_161074891	161055863	AATAAAAT others(65): Show AATAAAATAAAATAAAATAAAAATAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0010 a0011	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0015 a0006c0009 a0010c0010 a0011c0008	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0003t0001 a0002c0003t0005 a0002c0015t0001 a0006c0009t0001 a0010c0010t0001 a0011c0008t0001	a0001c0001t0001g0375 a0001c0001t0001g0376 a0002c0002t0001g0001 others(139): Show a0001c0001t0001g0375 a0001c0001t0001g0376 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0199 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0354 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0370 a0002c0002t0001g0377 a0002c0002t0004g0317 a0002c0002t0004g0318 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0257 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0261 a0002c0003t0001g0264 a0002c0003t0001g0267 a0002c0003t0001g0270 a0002c0003t0001g0272 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0333 a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0001g0353 a0002c0003t0001g0356 a0002c0003t0001g0359 a0002c0003t0001g0360 a0002c0003t0001g0361 a0002c0003t0001g0362 a0002c0003t0001g0369 a0002c0003t0001g0371 a0002c0003t0001g0372 a0002c0003t0001g0373 a0002c0003t0001g0374 a0002c0003t0005g0271 a0002c0003t0005g0286 a0002c0003t0005g0292 a0002c0003t0005g0304 a0002c0015t0001g0308 a0006c0009t0001g0032 a0010c0010t0001g0156 a0011c0008t0001g0258	148	390	0.3795	-72	c.345 others(87): Show c.345+453_345+524delATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTATTTTTATTTTATTTTATTTTAT	ARHGAP30	ENSG00000186517.14	transcript	ENST00000368013.8	protein_coding	3/11			chr1	TogoVar
ARHGAP39_chr8_144524179_144690846	144562021	CACTCCAG others(65): Show CACTCCAGTGGTTTCCATCGGACTTACTCCAGTGGTTTCCATCGGACTTA CTCCAGTGGTTTCCATCGGACTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	246	0.0041	-72	c.513 others(89): Show c.513-6450_513-6379delAAGTCCGATGGAAACCACTGGAGTAAGT CCGATGGAAACCACTGGAGTAAGTCCGATGGAAACCACTGGAGT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841874	GGGAACTG others(65): Show GGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGACC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03834.hp1 HG03831.hp1 HG03834.hp1	a0002 a0003 a0002 a0003	a0002c0027 a0003c0051 a0002c0027 a0003c0051	a0002c0027t0006 a0003c0051t0006 a0002c0027t0006 a0003c0051t0006	a0002c0027t0006g0100 a0003c0051t0006g0319 a0002c0027t0006g0100 a0003c0051t0006g0319	2	363	0.0055	-72	c.-47 others(89): Show c.-47-1463_-47-1392delGCGGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCGACCGGAACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841892	GGGAACTG others(65): Show GGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGACCGGAACTGGGGCCGCGACC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00738.hp1 others(17): Show HG00099.hp1 HG00544.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01255.hp2 HG01884.hp2 HG02015.hp2 HG02165.hp2 HG02572.hp2 HG03490.hp2 HG04115.hp1 NA18941.hp1 NA18945.hp1 NA18945.hp2 NA18961.hp2 NA18974.hp2 NA19060.hp2	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0003 a0001c0004 a0001c0006 others(14): Show a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0026 a0001c0041 a0001c0042 a0001c0068 a0001c0070 a0001c0071 a0001c0132 a0003c0038 a0019c0109	a0001c0003t0001 a0001c0004t0002 a0001c0004t0048 others(15): Show a0001c0003t0001 a0001c0004t0002 a0001c0004t0048 a0001c0006t0001 a0001c0008t0037 a0001c0010t0001 a0001c0012t0001 a0001c0014t0002 a0001c0019t0001 a0001c0026t0007 a0001c0041t0007 a0001c0042t0038 a0001c0068t0004 a0001c0070t0001 a0001c0071t0002 a0001c0132t0020 a0003c0038t0018 a0019c0109t0044	a0001c0003t0001g0220 a0001c0004t0002g0071 a0001c0004t0002g0072 others(17): Show a0001c0003t0001g0220 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0048g0104 a0001c0006t0001g0073 a0001c0008t0037g0154 a0001c0010t0001g0182 a0001c0012t0001g0236 a0001c0014t0002g0256 a0001c0019t0001g0213 a0001c0019t0001g0214 a0001c0026t0007g0129 a0001c0041t0007g0097 a0001c0042t0038g0155 a0001c0068t0004g0167 a0001c0070t0001g0130 a0001c0071t0002g0131 a0001c0132t0020g0084 a0003c0038t0018g0085 a0019c0109t0044g0121	20	363	0.0551	-72	c.-47 others(89): Show c.-47-1409_-47-1338delACCGGAACTGGGGCCGCGACCGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841946	CGGAACTG others(65): Show CGGAACTGGGGCCGCGACCGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGGCG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01169.hp2 HG01261.hp1 others(7): Show HG00735.hp2 HG01169.hp2 HG01261.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp2 NA19002.hp1 NA19064.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0009 a0001c0013 a0001c0050 others(5): Show a0001c0009 a0001c0013 a0001c0050 a0001c0119 a0002c0024 a0002c0028 a0002c0108 a0013c0057	a0001c0009t0002 a0001c0013t0001 a0001c0050t0006 others(5): Show a0001c0009t0002 a0001c0013t0001 a0001c0050t0006 a0001c0119t0001 a0002c0024t0001 a0002c0028t0001 a0002c0108t0004 a0013c0057t0001	a0001c0009t0002g0055 a0001c0013t0001g0029 a0001c0013t0001g0247 others(7): Show a0001c0009t0002g0055 a0001c0013t0001g0029 a0001c0013t0001g0247 a0001c0013t0001g0248 a0001c0050t0006g0127 a0001c0119t0001g0234 a0002c0024t0001g0054 a0002c0028t0001g0285 a0002c0108t0004g0142 a0013c0057t0001g0283	10	363	0.0276	-72	c.-47 others(89): Show c.-47-1391_-47-1320delACCGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841964	CGGAACTG others(65): Show CGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGGCG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0128 a0002c0128	a0002c0128t0001 a0002c0128t0001	a0002c0128t0001g0028 a0002c0128t0001g0028	1	363	0.0028	-72	c.-47 others(89): Show c.-47-1337_-47-1266delGCGGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7362011	AAGAAGGA others(65): Show AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG04115.hp1 NA18946.hp1 others(2): Show HG00408.hp2 HG04115.hp1 NA18946.hp1 NA19012.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0053 a0001c0001t0001g0081 a0001c0001t0001g0109 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0081 a0001c0001t0001g0109 a0003c0003t0001g0083 a0003c0003t0001g0148	5	298	0.0168	-72	c.-11 others(89): Show c.-110-695_-110-624delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362101	GAGAAGGA others(65): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGGAGAAGAAGGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01167.hp1 others(21): Show HG00735.hp1 HG00741.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG02055.hp1 HG02273.hp2 HG02683.hp2 HG02738.hp2 HG04184.hp1 NA18941.hp1 NA18946.hp2 NA18998.hp1 NA19011.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0010 a0013	a0001c0001 a0001c0002 a0001c0016 others(5): Show a0001c0001 a0001c0002 a0001c0016 a0001c0018 a0003c0003 a0009c0012 a0010c0017 a0013c0022	a0001c0001t0002 a0001c0001t0029 a0001c0002t0003 others(6): Show a0001c0001t0002 a0001c0001t0029 a0001c0002t0003 a0001c0016t0014 a0001c0018t0001 a0003c0003t0001 a0009c0012t0010 a0010c0017t0001 a0013c0022t0001	a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0093 others(21): Show a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0192 a0001c0001t0029g0098 a0001c0002t0003g0085 a0001c0016t0014g0096 a0001c0018t0001g0136 a0003c0003t0001g0177 a0009c0012t0010g0030 a0010c0017t0001g0095 a0013c0022t0001g0104 a0013c0022t0001g0105	24	298	0.0805	-72	c.-11 others(89): Show c.-110-677_-110-606delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGAAGAAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARK2C_chr18_46329018_46468140	46445855	AACTATCA others(65): Show AACTATCACCAGTAGAAGCGGAAATTCCTTTAATACTTCTCCATATCCTT TTTTTTTTTTCTCCAATGTATTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	260	0.0039	-72	c.486 others(89): Show c.486-1707_486-1636delACTATCACCAGTAGAAGCGGAAATTCCT TTAATACTTCTCCATATCCTTTTTTTTTTTTCTCCAATGTATTT	ARK2C	ENSG00000141622.14	transcript	ENST00000269439.12	protein_coding	3/7			chr18	TogoVar
ASIC2_chr17_33008087_33298295	33269660	TTCCTTCC others(65): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCTGCCTGCCTGCCTGCCTGCCTG CCTTTCCTCCCTTCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp1 HG02056.hp1 others(6): Show HG00544.hp1 HG01175.hp1 HG02056.hp1 HG03704.hp2 NA18944.hp2 NA18947.hp2 NA18985.hp2 NA19068.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0001t0023 a0001c0002t0001 others(4): Show a0001c0001t0004 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0059 others(6): Show a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0059 a0001c0001t0023g0084 a0001c0002t0001g0112 a0001c0002t0002g0130 a0001c0004t0002g0161 a0002c0003t0001g0200 a0002c0003t0002g0193	9	240	0.0375	-72	c.708 others(91): Show c.708+21676_708+21747delGGGAGGGAGGAAGGGAGGAAAGGCAG GCAGGCAGGCAGGCAGGCAGGAGGGAGGGAGGGAAGGAAGGAAGGA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ATP1A3_chr19_41961582_41999230	41990349	CTCTCTCT others(65): Show CTCTCTCTCTCCCTCTCTCTGTCTCTCTCAAATCTTCCGTCCCCCTCCTT CCCCATATATCTCTCATTCTCTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	282	0.0036	-72	c.7-1 others(85): Show c.7-1859_7-1788delAAGAGAATGAGAGATATATGGGGAAGGAGGGG GACGGAAGATTTGAGAGAGACAGAGAGAGGGAGAGAGAGA	ATP1A3	ENSG00000105409.19	transcript	ENST00000648268.1	protein_coding	1/22			chr19	TogoVar
ATP8A1_chr4_42403373_42662105	42521593	TGACAGAA others(65): Show TGACAGAAATAATACAGGTATATGTTTGTCACAATGGTTTCTTTATCTGT AAAATGAGAACATTTACAGCTGC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	310	0.0032	-72	c.194 others(89): Show c.1947+495_1947+566delGCAGCTGTAAATGTTCTCATTTTACAGA TAAAGAAACCATTGTGACAAACATATACCTGTATTATTTCTGTC	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	22/36			chr4	TogoVar
ATP8B1_chr18_57641426_57808315	57732273	ATATATGT others(65): Show ATATATGTGTATATATGTATATATATGTGTATATATGTGTGTATATATGT GTATATATGTGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0002	1	314	0.0032	-72	c.-25 others(87): Show c.-25-513_-25-442delCATATATATACACACATATATACACATATA TACACACATATATACACATATATATACATATATACACATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50072955	TCTCTCTC others(65): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATA TATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	254	0.0039	-72	c.87+ others(87): Show c.87+1100_87+1171delGTGTGTGTATATATATATATATATATATAT ATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79309037	AGGAGTGA others(65): Show AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGTGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	298	0.0034	-72	c.177 others(91): Show c.1773+1836_1773+1907delTGGTGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGTGGTGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPSCKMT_chr5_10220507_10254888	10233565	TTTCCCCT others(65): Show TTTCCCCTGATTGAACAGCTCCATAAAGTGAGTCAGTCTACTTCAAACAT GGTAAGAAGCACCCGGAGTCGGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03579.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0071 a0001c0002t0007g0078 a0001c0002t0007g0071 a0001c0002t0007g0078	2	358	0.0056	-72	c.495 others(89): Show c.495+1574_495+1645delGCCGACTCCGGGTGCTTCTTACCATGTT TGAAGTAGACTGACTCACTTTATGGAGCTGTTCAATCAGGGGAA	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding	4/4			chr5	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(65): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp1 NA18939.hp2 HG03195.hp2 HG03579.hp1 NA18939.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0259 a0001c0001t0001g0269 a0003c0003t0001g0279 a0001c0001t0001g0259 a0001c0001t0001g0269 a0003c0003t0001g0279	3	446	0.0067	-72	c.287 others(87): Show c.287+667_287+738delACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GALT1_chr2_167288001_167879045	167512552	ATATGTAT others(65): Show ATATGTATATATATATGTATATATATATGTATATATATATGTGTATATAT ATATATGTATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0107 a0001c0001t0032g0107	1	118	0.0085	-72	c.-41 others(93): Show c.-410+22279_-410+22350delGTATATATATATGTATATATATAT GTATATATATATGTGTATATATATATATGTATATATATATACGTGTAT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GLCT_chr13_31194975_31337276	31230613	GCTCTGCT others(65): Show GCTCTGCTTGAAACATCGTACTTTCTCAAGGGAGAGGAAAGTAACACATG CTATAGATTGTTTTTCAGTAGTC	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0212 a0002c0002t0009g0212	1	268	0.0037	-72	c.270 others(89): Show c.270+1320_270+1391delCTCTGCTTGAAACATCGTACTTTCTCAA GGGAGAGGAAAGTAACACATGCTATAGATTGTTTTTCAGTAGTC	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	4/14			chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83002923	TCCGCGTG others(65): Show TCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCCGCAGTCCGCGT GTGGGATTCCTGAGCCCGCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03669.hp1 HG04115.hp1 HG01106.hp2 HG03669.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0002 a0001c0002t0002 a0001c0006t0002	a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0006t0002g0031 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0006t0002g0031	3	266	0.0113	-72	c.459 others(89): Show c.459+2120_459+2191delGAGGGCGGGCTCAGGAATCCCACACGCG GACTGCGGAGAGTGGGAGGGCGGGCTCAGGAATCCCACACGCGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003682	GTCCGCGT others(65): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCATGTGGGA TTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG03579.hp1 others(2): Show HG01891.hp2 HG02451.hp2 HG03579.hp1 HG03669.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0014 a0001c0002 a0001c0011 a0001c0014	a0001c0002t0002 a0001c0011t0011 a0001c0011t0012 others(1): Show a0001c0002t0002 a0001c0011t0011 a0001c0011t0012 a0001c0014t0018	a0001c0002t0002g0084 a0001c0011t0011g0138 a0001c0011t0011g0139 others(2): Show a0001c0002t0002g0084 a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0001c0014t0018g0049	5	266	0.0188	-72	c.459 others(89): Show c.459+1361_459+1432delGGGCGGGAGGGCGGGCTCAGGAATCCCA CATGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003920	TCCGCGTG others(65): Show TCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGT GTGGGATTCCTGAGCCCGCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0010 a0001c0006t0010g0010	1	266	0.0038	-72	c.459 others(89): Show c.459+1123_459+1194delGAGGGCGGGCTCAGGAATCCCACACGCG GACTGCGGAGAGTGGGAGGGCGAGCTCAGGAATCCCACACGCGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004035	TCCGCGTG others(65): Show TCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCGT GTGGGATTCCTGAGCCCGCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0221 a0001c0003t0015g0221	1	266	0.0038	-72	c.459 others(89): Show c.459+1008_459+1079delGAGGGCGGGCTCAGGAATCCCACACGCG GACTGCAGAGAGTGGGAGGGCGGGCTCAGGAATCCCACACGCGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004193	TCCGCGTG others(65): Show TCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCCGCAGTCCGCGT GTGGGATTCCTGAGCCCGCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03130.hp1 HG00609.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0013 a0001c0006 a0001c0013	a0001c0006t0008 a0001c0013t0012 a0001c0006t0008 a0001c0013t0012	a0001c0006t0008g0020 a0001c0013t0012g0013 a0001c0006t0008g0020 a0001c0013t0012g0013	2	266	0.0075	-72	c.459 others(87): Show c.459+850_459+921delGAGGGCGGGCTCAGGAATCCCACACGCGGA CTGCGGAGAGTGGGAGGGCGGGCTCAGGAATCCCACACGCGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004351	TCCGCGTG others(65): Show TCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGT GTGGGATTCCTGAGCCCGCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00621.hp1 others(66): Show HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03492.hp1 HG03579.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18945.hp1 NA18947.hp2 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19012.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0001c0029 a0002c0005 a0002c0010 a0002c0015 a0002c0022 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0037 a0001c0002t0002 a0001c0003t0014 a0001c0003t0015 a0001c0003t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0010 a0001c0006t0023 a0001c0007t0005 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0011t0030 a0001c0013t0012 a0001c0014t0018 a0001c0016t0001 a0001c0029t0001 a0002c0005t0003 a0002c0005t0007 a0002c0010t0007 a0002c0015t0003 a0002c0022t0003 a0005c0026t0006	a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 others(64): Show a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0156 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0006g0182 a0001c0001t0009g0246 a0001c0001t0037g0259 a0001c0002t0002g0085 a0001c0003t0014g0194 a0001c0003t0015g0221 a0001c0003t0021g0219 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0006t0001g0022 a0001c0006t0002g0040 a0001c0006t0006g0038 a0001c0006t0006g0047 a0001c0006t0010g0010 a0001c0006t0023g0030 a0001c0007t0005g0229 a0001c0007t0005g0234 a0001c0008t0005g0191 a0001c0008t0005g0203 a0001c0008t0005g0226 a0001c0008t0014g0195 a0001c0008t0014g0212 a0001c0008t0021g0213 a0001c0011t0030g0143 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0014t0018g0049 a0001c0016t0001g0008 a0001c0016t0001g0009 a0001c0029t0001g0141 a0002c0005t0003g0055 a0002c0005t0003g0161 a0002c0005t0003g0175 a0002c0005t0007g0261 a0002c0010t0007g0004 a0002c0010t0007g0206 a0002c0010t0007g0207 a0002c0010t0007g0216 a0002c0010t0007g0224 a0002c0015t0003g0043 a0002c0022t0003g0029 a0005c0026t0006g0176	69	266	0.2594	-72	c.459 others(87): Show c.459+692_459+763delGAGGGCGGGCTCAGGAATCCCACACGCGGA CTGCAGAGAGTGGGAGGGCGAGCTCAGGAATCCCACACGCGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	499443	CCTAGCCC others(65): Show CCTAGCCCGTGGAGCCCGTGCTCTCACTATCTAGAACACTCCTAGCCCGT GGAGCCCGTGCTCTCACTATCTA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG02280.hp1 others(9): Show HG01346.hp2 HG01358.hp1 HG02280.hp1 HG02615.hp1 HG02717.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp2 HG03540.hp1 NA19030.hp1 NA19240.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0016 a0003c0004 others(2): Show a0001c0001 a0001c0016 a0003c0004 a0006c0007 a0006c0020	a0001c0001t0016 a0001c0001t0028 a0001c0001t0055 others(9): Show a0001c0001t0016 a0001c0001t0028 a0001c0001t0055 a0001c0016t0083 a0001c0016t0088 a0003c0004t0002 a0003c0004t0029 a0003c0004t0038 a0003c0004t0066 a0003c0004t0080 a0006c0007t0002 a0006c0020t0002	a0001c0001t0016g0282 a0001c0001t0028g0208 a0001c0001t0055g0181 others(9): Show a0001c0001t0016g0282 a0001c0001t0028g0208 a0001c0001t0055g0181 a0001c0016t0083g0228 a0001c0016t0088g0229 a0003c0004t0002g0285 a0003c0004t0029g0182 a0003c0004t0038g0284 a0003c0004t0066g0309 a0003c0004t0080g0201 a0006c0007t0002g0180 a0006c0020t0002g0283	12	394	0.0305	-72	c.170 others(91): Show c.170-35650_170-35579delCTAGCCCGTGGAGCCCGTGCTCTCAC TATCTAGAACACTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	507774	TCCTGCCC others(65): Show TCCTGCCCCTGGAAATCCAGTAGTAGCTTGGTGGACGTCTGTCCCTGGAA ATCCAGTAGTAGCTTGGTGGACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02145.hp1 others(9): Show HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02622.hp2 HG02723.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 NA18906.hp1 NA19030.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0019	a0001c0002 a0001c0013 a0001c0016 others(6): Show a0001c0002 a0001c0013 a0001c0016 a0002c0003 a0002c0034 a0004c0027 a0004c0028 a0007c0008 a0019c0037	a0001c0002t0013 a0001c0013t0002 a0001c0016t0088 others(7): Show a0001c0002t0013 a0001c0013t0002 a0001c0016t0088 a0002c0003t0090 a0002c0034t0072 a0004c0027t0078 a0004c0028t0004 a0007c0008t0007 a0007c0008t0027 a0019c0037t0002	a0001c0002t0013g0175 a0001c0013t0002g0177 a0001c0016t0088g0229 others(9): Show a0001c0002t0013g0175 a0001c0013t0002g0177 a0001c0016t0088g0229 a0002c0003t0090g0143 a0002c0034t0072g0210 a0004c0027t0078g0276 a0004c0028t0004g0207 a0007c0008t0007g0187 a0007c0008t0027g0142 a0007c0008t0027g0144 a0007c0008t0027g0145 a0019c0037t0002g0227	12	394	0.0305	-72	c.170 others(91): Show c.170-27367_170-27296delGCTTGGTGGACGTCTGTCCCTGGAAA TCCAGTAGTAGCTTGGTGGACACCTGCCCCTGGAAATCCAGTAGTA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL11A_chr2_60452194_60558654	60467582	GTGGTGGT others(65): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGT GGTGGTGGTGATGGTGGTGATGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0012 a0001c0001t0019g0012	1	262	0.0038	-72	c.487 others(89): Show c.487+1078_487+1149delTCATCACCACCATCACCACCACCACCAT TACCACCACCATCACTACCACCACCACCACCATCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467780	GTGTTGAT others(65): Show GTGTTGATGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGAT GGTGGTGGTGGTGGTGATGCTAC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0260 a0001c0001t0068g0260	1	262	0.0038	-72	c.487 others(87): Show c.487+880_487+951delGTAGCATCACCACCACCACCACCATCACCA TCACCACCAGTACCATCACCACCAGTACCATCACCATCAACA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCOR_chrX_40046251_40102958	40046528	ATATAAAT others(65): Show ATATAAATATATATATATATATGTATATATATATATATATATATATATGT ATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	257	0.0039	-72	c.55 others(83): Show c.5509_*5580delCATATATATATATATATATATATACATATATATA TATATATATATATATACATATATATATATATATTTATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4722		chrX	TogoVar
BMP7_chr20_57163753_57271641	57190356	AGAGGGGG others(65): Show AGAGGGGGTGAGGCTGGAGAGCGTGAGTGAGGAGCCCGAGGGGGTGAGGC TGGAGAGCGTGAGTGAGGAGCCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(155): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0004t0002 a0001c0007t0002 a0001c0008t0002 a0001c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0025 others(149): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0106 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0003g0050 a0001c0001t0004g0236 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0005g0065 a0001c0001t0005g0120 a0001c0001t0005g0144 a0001c0001t0005g0162 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0215 a0001c0001t0007g0020 a0001c0001t0007g0126 a0001c0001t0007g0131 a0001c0001t0007g0143 a0001c0001t0007g0182 a0001c0001t0008g0003 a0001c0001t0008g0078 a0001c0001t0008g0226 a0001c0001t0009g0103 a0001c0001t0010g0118 a0001c0001t0010g0146 a0001c0001t0012g0240 a0001c0001t0015g0238 a0001c0001t0015g0239 a0001c0001t0017g0125 a0001c0001t0019g0224 a0001c0001t0020g0214 a0001c0001t0021g0137 a0001c0001t0022g0157 a0001c0001t0025g0246 a0001c0002t0001g0009 a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0007g0007 a0001c0002t0009g0015 a0001c0004t0002g0117 a0001c0007t0002g0067 a0001c0008t0002g0058 a0001c0009t0001g0075	158	272	0.5809	-72	c.761 others(89): Show c.761-6509_761-6438delGGGCTCCTCACTCACGCTCTCCAGCCTC ACCCCCTCGGGCTCCTCACTCACGCTCTCCAGCCTCACCCCCTC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57190413	CGTGAGTG others(65): Show CGTGAGTGAGGAGCCCGAGGGGGTGAGGCTGGAGAGCGTGAGTGAGGAGC CCGAGGGGGTGAGGCTGGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03540.hp2 NA19240.hp1 HG02486.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0014 a0001c0005t0011 a0001c0001t0014 a0001c0005t0011	a0001c0001t0014g0237 a0001c0005t0011g0234 a0001c0005t0011g0235 a0001c0001t0014g0237 a0001c0005t0011g0234 a0001c0005t0011g0235	3	272	0.0110	-72	c.761 others(89): Show c.761-6566_761-6495delTCTCTCCAGCCTCACCCCCTCGGGCTCC TCACTCACGCTCTCCAGCCTCACCCCCTCGGGCTCCTCACTCAC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33222563	GATGGATG others(65): Show GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGTGGA TGGATGGATGGATGAGCGGATGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01884.hp1 others(29): Show HG00741.hp1 HG01109.hp1 HG01884.hp1 HG01891.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0014	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0004c0004 a0007c0008 a0014c0009	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0002c0002t0002 a0004c0004t0002 a0007c0008t0002 a0014c0009t0002	a0001c0001t0001g0028 a0001c0001t0001g0120 a0001c0001t0002g0009 others(13): Show a0001c0001t0001g0028 a0001c0001t0001g0120 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0007t0001g0055 a0001c0007t0001g0122 a0001c0007t0001g0123 a0002c0002t0002g0053 a0004c0004t0002g0050 a0004c0004t0002g0052 a0007c0008t0002g0124 a0007c0008t0002g0125 a0014c0009t0002g0051	32	416	0.0769	-72	c.128 others(89): Show c.128-1212_128-1141delGATGGATGAGTGGATGGATGGATGGATG AGCGGATGAATGGATGGATGGATGGATGGATGGATGGATGGATG	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
BRD1_chr22_49768283_49832873	49781971	CGAGACAG others(65): Show CGAGACAGACCCAAGGCCCAGGCCAGATGCCTGCACAAGACTTGCTCCGT GACAATGCAGCCGGGGACGGTCA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	258	0.0039	-72	c.285 others(91): Show c.2858-4230_2858-4159delTGACCGTCCCCGGCTGCATTGTCACG GAGCAAGTCTTGTGCAGGCATCTGGCCTGGGCCTTGGGTCTGTCTC	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	8/12			chr22	TogoVar
BRD3_chr9_134025305_134073026	134027223	CCCCTCCG others(65): Show CCCCTCCGTGGTCAGCTGTTGTGACATTTGAATTCTCCAGGTGCTGCTAG GGACAGCATAGGCCCGGGCACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0119 a0001c0003t0001g0119	1	334	0.0030	-72	c.62 others(83): Show c.6295_*6366delCAGTGCCCGGGCCTATGCTGTCCCTAGCAGCACC TGGAGAATTCAAATGTCACAACAGCTGACCACGGAGGG	BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding		3081		chr9	TogoVar
BRF1_chr14_105204286_105306001	105271837	AGCCTCCC others(65): Show AGCCTCCCCGCCCACCGCCTGCAGTCACGGTGTCCACGCACAAGGCCAAG CTGCACACCGCTGAGGGTCGGCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00741.hp1 others(4): Show HG00323.hp1 HG00639.hp1 HG00741.hp1 HG01361.hp2 HG02257.hp2 HG02273.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0038 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0012g0013	7	72	0.0972	-72	c.439 others(87): Show c.439+812_439+883delCGCCGACCCTCAGCGGTGTGCAGCTTGGCC TTGTGCGTGGACACCGTGACTGCAGGCGGTGGGCGGGGAGGC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	3/17			chr14	TogoVar
BRINP3_chr1_190092658_190482864	190308163	GACATAAT others(65): Show GACATAATTTTGCTTTTGAGAAGACATAAGAACACTTGTATATAGTTTTC AATTATATTTAACGGCAACCTAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02970.hp2 others(2): Show HG01109.hp2 HG02109.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(2): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0192	5	240	0.0208	-72	c.237 others(91): Show c.237-26485_237-26414delTTAGGTTGCCGTTAAATATAATTGAA AACTATATACAAGTGTTCTTATGTCTTCTCAAAAGCAAAATTATGT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRSK2_chr11_1384934_1467689	1396175	GCTCCTCG others(65): Show GCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTC TTCCCTTCCACCCACGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	360	0.0028	-72	c.91+ others(87): Show c.91+5806_91+5877delCGTCTCTCTTCCCTTCCACCCACGTCCCCC ACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396185	TCTCTTCC others(65): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp2 HG01256.hp2 others(29): Show HG00323.hp1 HG01109.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01884.hp2 HG02055.hp1 HG02129.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18995.hp2 NA19080.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0024 a0001c0001t0032 a0001c0001t0059 a0001c0001t0062 a0001c0001t0064 a0001c0001t0074 a0001c0001t0075 a0002c0002t0002 a0002c0002t0005 a0002c0002t0013 a0002c0002t0019 a0002c0002t0022 a0002c0005t0034 a0002c0017t0052	a0001c0001t0001g0058 a0001c0001t0003g0200 a0001c0001t0003g0201 others(26): Show a0001c0001t0001g0058 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0004g0121 a0001c0001t0006g0214 a0001c0001t0006g0251 a0001c0001t0013g0022 a0001c0001t0013g0311 a0001c0001t0024g0292 a0001c0001t0032g0195 a0001c0001t0059g0041 a0001c0001t0062g0257 a0001c0001t0064g0261 a0001c0001t0074g0213 a0001c0001t0075g0202 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0033 a0002c0002t0005g0005 a0002c0002t0005g0212 a0002c0002t0013g0001 a0002c0002t0019g0021 a0002c0002t0019g0042 a0002c0002t0019g0043 a0002c0002t0022g0003 a0002c0005t0034g0055 a0002c0005t0034g0056 a0002c0017t0052g0008	32	360	0.0889	-72	c.91+ others(87): Show c.91+5857_91+5928delCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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