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
ACSF3_chr16_89088852_89161233	89148546	C C	CTGCTGTT others(23): Show CTGCTGTTGTGTGCCTGCAACTTTTCTAGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0241 a0001c0005t0009g0241	1	366	0.0027	30	c.161 others(49): Show c.1613+2498_1613+2527dupTGCTGTTGTGTGCCTGCAACTTTTCT AGGT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423217	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19085.hp1 HG00099.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0283 a0001c0001t0001g0227 a0001c0001t0001g0283	2	241	0.0083	30	c.159 others(47): Show c.1593+777_1593+778insTATATATATATATATATATATATATATA TA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	148	0.0068	30	c.159 others(47): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18972.hp2 NA19000.hp2 NA18940.hp2 NA18972.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0212 a0001c0001t0001g0281 a0001c0001t0001g0282	3	29	0.1034	30	c.159 others(47): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0223 a0001c0005t0001g0223	1	170	0.0059	30	c.612 others(45): Show c.612-801_612-800insATATATATATATTTTTTTTTTTTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20458904	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0007 a0003c0026t0007	a0003c0026t0007g0158 a0003c0026t0007g0158	1	431	0.0023	30	c.-8- others(45): Show c.-8-1203_-8-1202insTATATATATATATATATATATATATGTATA	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	1/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431945	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0103 a0003c0003t0003g0103	1	372	0.0027	30	c.130 others(47): Show c.1308+626_1308+627insTAATAATAATAATAATAATAATAATAAT AA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTCTT others(23): Show TTTCTCTTTCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp1 NA18939.hp2 others(4): Show HG03195.hp1 HG03486.hp1 NA18939.hp2 NA18940.hp2 NA18954.hp1 NA18974.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0283 others(4): Show a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0300	7	163	0.0429	30	c.375 others(49): Show c.375-13670_375-13669insTCTTTCTTTCCTTCCTTCCTTCCTTC CTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTTTC others(23): Show TTTCTTTCTCTTTCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp2 HG03041.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0144 a0002c0004t0001g0149 a0002c0004t0001g0144 a0002c0004t0001g0149	2	158	0.0127	30	c.375 others(49): Show c.375-13670_375-13669insTTTCTCTTTCTTTCCTTCCTTCCTTC CTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81213793	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	184	0.0054	30	c.135 others(49): Show c.1355-3086_1355-3057dupTCTCTTCTCTTCTCTTCTCTTCTCTT CTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(23): Show TCTCTTCTCTTCTCTTCTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp2 others(15): Show HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01261.hp2 HG01891.hp2 HG01993.hp2 HG02080.hp1 HG02109.hp2 HG03041.hp2 HG03130.hp2 HG03486.hp2 HG03579.hp1 NA18955.hp1 NA18981.hp2 NA19003.hp1 NA19080.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0005t0005 a0001c0006t0011 a0002c0003t0005	a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 others(15): Show a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0261 a0001c0001t0003g0265 a0001c0001t0003g0288 a0001c0001t0004g0197 a0001c0001t0004g0232 a0001c0001t0012g0165 a0001c0001t0012g0177 a0001c0001t0013g0176 a0001c0005t0005g0248 a0001c0006t0011g0234 a0001c0006t0011g0255 a0002c0003t0005g0152 a0002c0003t0005g0155 a0002c0003t0005g0278 a0002c0003t0005g0279	18	156	0.1154	30	c.135 others(49): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTTCTCTCCTCTC CTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(23): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0287 a0002c0004t0003g0287	1	139	0.0072	30	c.135 others(49): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTTCTCTTCTCTC CTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA2_chr10_88930074_88957773	88932031	G G	GGATGATG others(23): Show GGATGATGATGATGATGATGATGATGATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03041.hp2 HG02109.hp2 HG02965.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0001g0103	3	389	0.0077	30	c.31 others(41): Show c.3191_*3192insATCATCATCATCATCATCATCATCATCATC	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3042		chr10	TogoVar
ACTBL2_chr5_57475018_57487811	57487572	A A	ACCAAGCC others(23): Show ACCAAGCCCTGAGCCCAATCTCTGCCCAACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	30	c.-48 others(41): Show c.-4866_-4865insCGTTGGGCAGAGATTGGGCTCAGGGCTTGG	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding		4762		chr5	TogoVar
ACTG2_chr2_73888008_73924865	73923641	C C	CAAGAAAA others(23): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 NA19086.hp2 HG02572.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0004 a0001c0001t0008 a0001c0002t0004	a0001c0001t0008g0042 a0001c0002t0004g0281 a0001c0001t0008g0042 a0001c0002t0004g0281	2	98	0.0204	30	c.40 others(41): Show c.4066_*4067insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTL8_chr1_17750333_17832063	17798161	T T	TGCGAAGC others(23): Show TGCGAAGCCGTGAAATGTGCAGTGAAACTAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00597.hp1 others(114): Show HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp1 NA18906.hp1 NA18943.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0016 a0002c0002 a0002c0004 a0002c0011 a0003c0007 a0005c0014 a0007c0012	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0008t0001 a0001c0016t0001 a0002c0002t0001 a0002c0002t0009 a0002c0004t0001 a0002c0004t0004 a0002c0011t0005 a0003c0007t0001 a0005c0014t0001 a0007c0012t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0069 others(113): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0230 a0001c0001t0001g0328 a0001c0001t0001g0341 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0005g0044 a0001c0001t0005g0325 a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0076 a0001c0003t0001g0080 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0130 a0001c0003t0001g0133 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0164 a0001c0003t0001g0189 a0001c0003t0001g0196 a0001c0003t0001g0198 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0215 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0260 a0001c0003t0001g0309 a0001c0003t0001g0314 a0001c0003t0001g0316 a0001c0003t0001g0344 a0001c0003t0001g0345 a0001c0003t0001g0351 a0001c0003t0002g0205 a0001c0003t0003g0352 a0001c0003t0003g0353 a0001c0003t0003g0354 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0003g0355 a0001c0006t0001g0128 a0001c0006t0001g0204 a0001c0006t0001g0229 a0001c0006t0001g0313 a0001c0006t0001g0319 a0001c0008t0001g0040 a0001c0008t0001g0109 a0001c0008t0001g0350 a0001c0016t0001g0226 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0037 a0002c0002t0001g0055 a0002c0002t0001g0064 a0002c0002t0001g0074 a0002c0002t0001g0084 a0002c0002t0001g0114 a0002c0002t0001g0148 a0002c0002t0001g0155 a0002c0002t0001g0201 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0224 a0002c0002t0001g0246 a0002c0002t0001g0264 a0002c0002t0001g0335 a0002c0002t0009g0225 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0053 a0002c0004t0001g0078 a0002c0004t0001g0094 a0002c0004t0001g0106 a0002c0004t0001g0169 a0002c0004t0001g0318 a0002c0004t0001g0334 a0002c0004t0004g0234 a0002c0004t0004g0237 a0002c0004t0004g0238 a0002c0004t0004g0241 a0002c0011t0005g0043 a0002c0011t0005g0336 a0003c0007t0001g0200 a0005c0014t0001g0221 a0007c0012t0001g0340	117	364	0.3214	30	c.-24 others(49): Show c.-24-24821_-24-24820insAAGCCGTGAAATGTGCAGTGAAACTA AGCG	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18948.hp2 HG01167.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0101 a0001c0001t0002g0046 a0001c0001t0002g0101	2	104	0.0192	30	c.195 others(47): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68929006	A A	ATTCGTGG others(23): Show ATTCGTGGGAGAGGGCTGGAACTGTGGCGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(230): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0001c0019 a0003c0008 a0004c0006 a0005c0014 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0003t0007 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0010t0002 a0001c0011t0001 a0001c0013t0001 a0001c0017t0004 a0001c0018t0001 a0001c0019t0001 a0003c0008t0003 a0004c0006t0004 a0005c0014t0002 a0006c0015t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(227): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0005g0004 a0001c0001t0006g0005 a0001c0002t0002g0089 a0001c0002t0002g0123 a0001c0002t0003g0003 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0151 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0157 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0167 a0001c0002t0003g0174 a0001c0002t0003g0179 a0001c0002t0003g0187 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0202 a0001c0002t0003g0207 a0001c0002t0003g0219 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0235 a0001c0002t0003g0256 a0001c0002t0003g0266 a0001c0002t0003g0269 a0001c0002t0003g0271 a0001c0002t0004g0009 a0001c0002t0004g0015 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0064 a0001c0002t0004g0066 a0001c0002t0004g0070 a0001c0002t0004g0086 a0001c0002t0004g0090 a0001c0002t0004g0098 a0001c0002t0004g0099 a0001c0002t0004g0100 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0004g0109 a0001c0002t0004g0122 a0001c0002t0004g0125 a0001c0002t0004g0128 a0001c0002t0004g0129 a0001c0002t0008g0150 a0001c0003t0001g0183 a0001c0003t0001g0237 a0001c0003t0001g0253 a0001c0003t0007g0105 a0001c0004t0004g0111 a0001c0005t0001g0198 a0001c0005t0001g0199 a0001c0005t0002g0124 a0001c0010t0002g0061 a0001c0011t0001g0178 a0001c0013t0001g0182 a0001c0017t0004g0045 a0001c0018t0001g0258 a0001c0019t0001g0259 a0003c0008t0003g0211 a0003c0008t0003g0220 a0004c0006t0004g0039 a0004c0006t0004g0112 a0005c0014t0002g0118 a0006c0015t0001g0276	233	280	0.8321	30	c.106 others(47): Show c.106-3335_106-3334insCGCGCCACAGTTCCAGCCCTCTCCCACG AA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68929042	G G	GGGAGAGG others(23): Show GGGAGAGGGCTGGAACTGTGGCGGGTTCGTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	282	0.0035	30	c.106 others(47): Show c.106-3371_106-3370insTACGAACCCGCCACAGTTCCAGCCCTCT CC	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02647.hp2 others(1): Show HG02109.hp2 HG02451.hp1 HG02647.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0002g0001 a0001c0001t0002g0080 a0001c0001t0001g0200 a0001c0001t0002g0001 a0001c0001t0002g0080	4	175	0.0229	30	c.106 others(49): Show c.106-24791_106-24790insTATATATACACACACACACACACACA CACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(23): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp1 HG03831.hp2 others(1): Show HG01258.hp2 HG01496.hp1 HG03831.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0291 a0001c0001t0001g0337 a0001c0001t0001g0338 others(1): Show a0001c0001t0001g0291 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0002t0002g0286	4	135	0.0296	30	c.448 others(45): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01258.hp2 HG01943.hp1 others(5): Show HG00639.hp2 HG01258.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02273.hp1 HG03669.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0002t0007 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0007 a0001c0003t0001 a0001c0003t0006 a0001c0006t0002	a0001c0001t0001g0291 a0001c0001t0001g0335 a0001c0002t0007g0301 others(4): Show a0001c0001t0001g0291 a0001c0001t0001g0335 a0001c0002t0007g0301 a0001c0003t0001g0001 a0001c0003t0006g0127 a0001c0003t0006g0131 a0001c0006t0002g0148	8	202	0.0396	30	c.876 others(43): Show c.876+83_876+84insTATATATATATATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735837	G G	GCGGGCGG others(23): Show GCGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0292	1	231	0.0043	30	c.64 others(41): Show c.6405_*6406insCGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4249		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735843	G G	GGGGCGGG others(23): Show GGGGCGGGGCGGGGCGGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	296	0.0034	30	c.64 others(41): Show c.6411_*6412insGGGCGGGGCGGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4255		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735967	C C	CGGGGCGG others(23): Show CGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0289 a0001c0001t0014g0289	1	308	0.0032	30	c.65 others(41): Show c.6535_*6536insGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4379		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735973	G G	GGGGCGGG others(23): Show GGGGCGGGGCGGGGCGGTGGTTCTGCGGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG03492.hp1 HG01261.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0279 a0001c0002t0001g0028 a0001c0002t0001g0279	2	308	0.0065	30	c.65 others(41): Show c.6541_*6542insGGGCGGGGCGGGGCGGTGGTTCTGCGGGCA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4385		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770194	T T	TATATATT others(23): Show TATATATTTATATAAATATATATAAATTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	30	c.-67 others(39): Show c.-675_-674insTTAAATTTATATATATTTATATAAATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		634		chr3	TogoVar
ACVR2A_chr2_147840029_147935822	147844400	G G	GGCCGCCG others(23): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	312	0.0032	30	c.-75 others(39): Show c.-753_-752insGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		628		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844409	T T	TGCCGCCG others(23): Show TGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0276 a0001c0001t0021g0276	1	140	0.0071	30	c.-74 others(39): Show c.-744_-743insGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		619		chr2	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19000.hp1 HG01192.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0057 a0002c0003t0002g0050 a0001c0002t0002g0057 a0002c0003t0002g0050	2	86	0.0233	30	c.63- others(47): Show c.63-15926_63-15925insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTTTCT others(23): Show CTTTTTCTTTCTTTCTTTCTTTGTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	128	0.0078	30	c.404 others(49): Show c.404+62889_404+62890insTTTTCTTTCTTTCTTTCTTTGTTTCT TTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01192.hp2 others(12): Show HG00738.hp2 HG01099.hp1 HG01192.hp2 HG01884.hp1 HG01993.hp1 HG02717.hp2 HG02895.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03704.hp2 HG04204.hp2 NA18964.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0003 a0001c0002t0003 a0001c0004t0002 others(5): Show a0001c0001t0003 a0001c0002t0003 a0001c0004t0002 a0001c0004t0004 a0001c0004t0039 a0001c0005t0002 a0001c0005t0006 a0001c0006t0002	a0001c0001t0003g0043 a0001c0001t0003g0297 a0001c0002t0003g0041 others(12): Show a0001c0001t0003g0043 a0001c0001t0003g0297 a0001c0002t0003g0041 a0001c0002t0003g0089 a0001c0004t0002g0037 a0001c0004t0002g0174 a0001c0004t0002g0194 a0001c0004t0002g0205 a0001c0004t0002g0210 a0001c0004t0004g0348 a0001c0004t0039g0294 a0001c0005t0002g0300 a0001c0005t0006g0345 a0001c0005t0006g0384 a0001c0006t0002g0138	15	215	0.0698	30	c.108 others(49): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp1 HG02280.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0044 a0001c0001t0003g0045	2	300	0.0067	30	c.973 others(45): Show c.973-422_973-421insATATATATATATATATTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp2 HG02970.hp2 others(1): Show HG02572.hp2 HG02922.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0002t0003g0107 others(1): Show a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0002t0003g0107 a0001c0002t0003g0312	4	302	0.0132	30	c.973 others(45): Show c.973-422_973-421insATATATATATATATATATTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17208810	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0032 a0001c0004t0002g0032	1	401	0.0025	30	c.322 others(45): Show c.322+545_322+546insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	2/9			chr22	TogoVar
ADAD1_chr4_122374011_122434784	122416690	A A	ATCACTGC others(23): Show ATCACTGCACTCCAGCCTGGGCAACAGAGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	374	0.0027	30	c.148 others(49): Show c.1487+1075_1487+1104dupTCACTGCACTCCAGCCTGGGCAACAG AGTG	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAL_chr15_43325672_43359569	43334633	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02145.hp2 HG02523.hp1 others(6): Show HG00609.hp1 HG02145.hp2 HG02523.hp1 HG03239.hp1 NA18951.hp1 NA18972.hp2 NA18980.hp1 NA19005.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0025 a0002c0004t0004 a0001c0002t0001 a0001c0002t0025 a0002c0004t0004	a0001c0002t0001g0031 a0001c0002t0001g0061 a0001c0002t0001g0062 others(5): Show a0001c0002t0001g0031 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0195 a0001c0002t0025g0055 a0002c0004t0004g0065	9	23	0.3913	30	c.-16 others(47): Show c.-163-310_-163-281dupATATATATATATATATATATATATATAT AT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATCTCTC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0235 a0001c0001t0004g0235	1	124	0.0081	30	c.207 others(47): Show c.207-6473_207-6472insGAGAGATATATATATATATATATATATA TA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(23): Show ATATATATATATATATATATATATCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0121 a0001c0001t0047 a0001c0001t0121	a0001c0001t0047g0091 a0001c0001t0121g0090 a0001c0001t0047g0091 a0001c0001t0121g0090	2	125	0.0160	30	c.207 others(47): Show c.207-6473_207-6472insGAGAGAGATATATATATATATATATATA TA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0088 a0001c0002t0015g0088	1	65	0.0154	30	c.114 others(49): Show c.1145+7304_1145+7305insATATATATATATATATATTTTTTTTT TTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0011 a0001c0019t0011	a0001c0019t0011g0129 a0001c0019t0011g0129	1	65	0.0154	30	c.114 others(49): Show c.1145+7304_1145+7305insATATATATATATATATATATATTTTT TTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0117 a0001c0002t0009g0117	1	65	0.0154	30	c.114 others(49): Show c.1145+7304_1145+7305insATATATATATATATATATATATATTT TTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0198 a0001c0003t0003g0198	1	65	0.0154	30	c.114 others(49): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT TTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126120925	T T	TTATATAT others(23): Show TTATATATTATATATTACATATGTAATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(106): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03490.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18946.hp1 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0016	a0001c0002 a0001c0003 a0001c0004 others(23): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0019 a0001c0026 a0001c0031 a0001c0032 a0001c0033 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0048 a0002c0049 a0004c0046 a0005c0025 a0007c0040 a0016c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(54): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0002t0022 a0001c0002t0033 a0001c0002t0041 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0030 a0001c0003t0038 a0001c0004t0002 a0001c0004t0014 a0001c0004t0019 a0001c0008t0002 a0001c0009t0003 a0001c0009t0013 a0001c0010t0001 a0001c0012t0012 a0001c0019t0011 a0001c0026t0001 a0001c0031t0002 a0001c0032t0008 a0001c0033t0001 a0002c0001t0001 a0002c0001t0007 a0002c0001t0009 a0002c0001t0018 a0002c0001t0028 a0002c0001t0042 a0002c0005t0003 a0002c0005t0004 a0002c0005t0005 a0002c0005t0027 a0002c0006t0001 a0002c0006t0002 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008 a0002c0006t0010 a0002c0007t0002 a0002c0007t0007 a0002c0011t0003 a0002c0011t0005 a0002c0015t0002 a0002c0015t0006 a0002c0017t0002 a0002c0017t0016 a0002c0024t0005 a0002c0048t0022 a0002c0049t0006 a0004c0046t0003 a0005c0025t0002 a0005c0025t0021 a0007c0040t0001 a0016c0030t0001	a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0082 others(106): Show a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0200 a0001c0002t0002g0022 a0001c0002t0002g0203 a0001c0002t0002g0228 a0001c0002t0007g0137 a0001c0002t0007g0250 a0001c0002t0009g0117 a0001c0002t0009g0123 a0001c0002t0009g0135 a0001c0002t0009g0140 a0001c0002t0009g0149 a0001c0002t0022g0133 a0001c0002t0033g0106 a0001c0002t0041g0233 a0001c0003t0003g0081 a0001c0003t0003g0219 a0001c0003t0003g0221 a0001c0003t0003g0231 a0001c0003t0003g0247 a0001c0003t0004g0029 a0001c0003t0004g0089 a0001c0003t0004g0124 a0001c0003t0004g0244 a0001c0003t0005g0130 a0001c0003t0005g0230 a0001c0003t0030g0079 a0001c0003t0038g0087 a0001c0004t0002g0092 a0001c0004t0002g0224 a0001c0004t0014g0121 a0001c0004t0019g0202 a0001c0008t0002g0028 a0001c0008t0002g0098 a0001c0009t0003g0218 a0001c0009t0003g0223 a0001c0009t0013g0134 a0001c0010t0001g0143 a0001c0012t0012g0192 a0001c0019t0011g0129 a0001c0019t0011g0207 a0001c0026t0001g0099 a0001c0031t0002g0206 a0001c0032t0008g0212 a0001c0033t0001g0112 a0002c0001t0001g0036 a0002c0001t0001g0043 a0002c0001t0001g0047 a0002c0001t0001g0055 a0002c0001t0001g0060 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0097 a0002c0001t0001g0114 a0002c0001t0001g0152 a0002c0001t0001g0156 a0002c0001t0001g0158 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0007g0045 a0002c0001t0007g0046 a0002c0001t0007g0153 a0002c0001t0007g0169 a0002c0001t0009g0024 a0002c0001t0018g0162 a0002c0001t0028g0005 a0002c0001t0042g0032 a0002c0005t0003g0042 a0002c0005t0003g0052 a0002c0005t0003g0066 a0002c0005t0003g0120 a0002c0005t0004g0044 a0002c0005t0004g0057 a0002c0005t0005g0037 a0002c0005t0005g0064 a0002c0005t0005g0155 a0002c0005t0027g0006 a0002c0006t0001g0167 a0002c0006t0002g0070 a0002c0006t0006g0171 a0002c0006t0007g0178 a0002c0006t0008g0101 a0002c0006t0010g0021 a0002c0007t0002g0056 a0002c0007t0007g0176 a0002c0011t0003g0068 a0002c0011t0003g0095 a0002c0011t0005g0049 a0002c0011t0005g0151 a0002c0015t0002g0125 a0002c0015t0006g0119 a0002c0017t0002g0184 a0002c0017t0016g0189 a0002c0024t0005g0069 a0002c0024t0005g0175 a0002c0048t0022g0051 a0002c0049t0006g0094 a0004c0046t0003g0160 a0005c0025t0002g0187 a0005c0025t0021g0164 a0007c0040t0001g0078 a0016c0030t0001g0113	109	240	0.4542	30	c.417 others(47): Show c.417-2731_417-2702dupTTATATTACATATGTAATATATAATATA TA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126193904	G G	GAAATAAA others(23): Show GAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG02559.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0011 a0001c0003t0003 a0001c0002t0011 a0001c0003t0003	a0001c0002t0011g0150 a0001c0003t0003g0211 a0001c0002t0011g0150 a0001c0003t0003g0211	2	75	0.0267	30	c.261 others(49): Show c.261-38629_261-38600dupTATTTTATTTTATTTTATTTTATTTT ATTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9489259	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0040 a0002c0003t0040	a0002c0003t0040g0059 a0002c0003t0040g0059	1	69	0.0145	30	c.91 others(39): Show c.917_*918insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	19/19	917		chr2	TogoVar
ADAM22_chr7_87929251_88207889	88113703	A A	AATAAATA others(23): Show AATAAATAAATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0180 a0002c0002t0003g0180	1	53	0.0189	30	c.474 others(45): Show c.474-878_474-877insAATAAATAAATATATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88113709	T T	TATATATA others(23): Show TATATATATATAATATATATATTATAAATAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0230 a0001c0001t0011g0230	1	223	0.0045	30	c.474 others(45): Show c.474-864_474-863insATATATATATTATAAATAAATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM28_chr8_24289069_24364014	24306357	T T	TATATATA others(23): Show TATATATATATATATATATATATATATTTAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0006 a0002c0019t0006	a0002c0019t0006g0229 a0002c0019t0006g0229	1	344	0.0029	30	c.151 others(47): Show c.151-3536_151-3535insTATATATATATATATATATATATATTTA AA	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM28_chr8_24289069_24364014	24325871	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0277 a0003c0006t0002g0277	1	191	0.0052	30	c.891 others(45): Show c.891-654_891-653insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr8	TogoVar

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