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
BAD_chr11_64264830_64289665	64271136	TCACACAC others(78): Show TCACACACACACACACACACACACACACCTGGAGTGGGATCTAGACTACA GATCCCAGCATGCCCTGTGACTCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03139.hp2 NA19043.hp1 HG01934.hp1 HG03139.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074	3	388	0.0077	-85	c.378 others(100): Show c.378+392_378+476delTGTGTGTGTGTGTGAGTCACAGGGCATGCT GGGATCTGTAGTCTAGATCCCACTCCAGGTGTGTGTGTGTGTGTGTGTGT GTGTG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	ACCCCGGC others(78): Show ACCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCC CGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG02109.hp2 others(4): Show HG00544.hp1 HG01884.hp1 HG02109.hp2 HG02135.hp1 HG02723.hp1 HG02723.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0021 a0001c0001 a0001c0005 a0001c0021	a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 a0001c0021t0001	a0001c0001t0001g0008 a0001c0001t0001g0128 a0001c0005t0001g0070 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0128 a0001c0005t0001g0070 a0001c0005t0002g0077 a0001c0005t0002g0078 a0001c0021t0001g0260	7	326	0.0215	-85	c.233 others(99): Show c.233+77_233+161delCGGGGCGAGGGCCGGGGCGGGGCGAGGGCCG GGGCGGGGCGAGGGCCGGGGCGGGGCGAGGGCCGGGGCGGGGCGAGGGCC GGGG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
C20orf204_chr20_64031182_64044001	64042832	CGGGGGTC others(78): Show CGGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGGTC GTGGGGGACGGGGCGGGGGTCGTGGGGGACGGGACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-85	c.40 others(96): Show c.4074_*4158delGGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGG GACGGGGCGGGGGTCGTGGGGGACGGGGCGGGGGTCGTGGGGGACGGGAC G	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3832		chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1204956	GCCCCGAT others(78): Show GCCCCGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0003 a0005c0023t0003	a0005c0023t0003g0129 a0005c0023t0003g0129	1	338	0.0030	-85	c.245 others(101): Show c.2452-154_2452-70delCGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGG GGCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALM2_chr2_47155084_47181511	47164321	TGCCTGTA others(78): Show TGCCTGTAGTCCCCCGTCTCTACTAAAACACACACACACACACACACACA CACACACACACACACACGCTGGGTGTGGCAGCGTGG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG01891.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0384 a0001c0001t0001g0385	2	432	0.0046	-85	c.35- others(100): Show c.35-1744_35-1660delCCACGCTGCCACACCCAGCGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAGTAGAGACGGGGGACTA CAGGC	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CAPN12_chr19_38725192_38749474	38735732	CGGGGCGG others(78): Show CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	342	0.0029	-85	c.158 others(102): Show c.1584-273_1584-189delCAGAACCCCCGCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAGAACCC CCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5764101	GGCCTCCC others(78): Show GGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACTGCGCCCAACCTG GTCTTGAACTCCTGGTCTTGTGATCCTCCTGCCTCA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19089.hp2 NA18942.hp1 NA19089.hp2	a0002 a0042 a0002 a0042	a0002c0002 a0042c0052 a0002c0002 a0042c0052	a0002c0002t0001 a0042c0052t0001 a0002c0002t0001 a0042c0052t0001	a0002c0002t0001g0180 a0042c0052t0001g0240 a0002c0002t0001g0180 a0042c0052t0001g0240	2	336	0.0060	-85	c.150 others(102): Show c.1506+829_1506+913delCACAGGCATGAGCCACTGCGCCCAACCT GGTCTTGAACTCCTGGTCTTGTGATCCTCCTGCCTCAGCCTCCCAAAGTG CTGGGAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC127_chr5_191868_223153	196550	CGAGTGTG others(78): Show CGAGTGTGTCCCCACCCCAGGGGGCCCCGTGTCACCCCCTCCCCAGGTGT GCCCCCACCCCTGCTGCCCTGTGTCACCCCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0038 a0001c0003t0040g0038	1	406	0.0025	-85	c.86 others(96): Show c.8662_*8746delCGGGAGGGGGTGACACAGGGCAGCAGGGGTGGGG GCACACCTGGGGAGGGGGTGACACGGGGCCCCCTGGGGTGGGGACACACT C	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding		317		chr5	TogoVar
CCDC187_chr9_136244973_136309094	136251862	GGTCCACC others(78): Show GGTCCACCCCGGGAAGGTCCAGGCGACCGTCCCGCGGAGCCGGCCGCCCA CCTGGTCCACCCTGGGAAGAGCCGGCCGCCCACCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(145): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(68): Show a0001 a0002 a0003 a0005 a0012 a0013 a0015 a0018 a0021 a0026 a0028 a0031 a0034 a0037 a0038 a0039 a0042 a0044 a0047 a0048 a0050 a0056 a0062 a0065 a0066 a0069 a0070 a0072 a0073 a0077 a0079 a0081 a0083 a0085 a0086 a0088 a0092 a0094 a0100 a0101 a0106 a0109 a0112 a0121 a0125 a0131 a0133 a0144 a0146 a0147 a0148 a0151 a0153 a0154 a0155 a0160 a0162 a0168 a0170 a0171 a0172 a0173 a0174 a0180 a0182 a0183 a0184 a0185 a0188 a0196 a0200	a0001c0002 a0001c0011 a0001c0113 others(75): Show a0001c0002 a0001c0011 a0001c0113 a0001c0114 a0002c0001 a0003c0004 a0003c0022 a0005c0005 a0012c0012 a0013c0023 a0015c0015 a0018c0040 a0021c0028 a0026c0024 a0026c0084 a0028c0048 a0028c0210 a0031c0056 a0031c0217 a0034c0020 a0037c0030 a0038c0051 a0039c0035 a0042c0025 a0044c0047 a0047c0026 a0048c0031 a0050c0043 a0056c0037 a0062c0044 a0065c0141 a0066c0111 a0069c0205 a0070c0132 a0072c0231 a0073c0129 a0077c0075 a0079c0159 a0081c0173 a0083c0128 a0085c0180 a0086c0125 a0088c0066 a0092c0234 a0094c0179 a0100c0156 a0101c0079 a0106c0089 a0109c0191 a0112c0229 a0121c0158 a0125c0074 a0131c0192 a0133c0139 a0144c0223 a0146c0199 a0147c0201 a0148c0070 a0151c0093 a0153c0123 a0154c0163 a0155c0110 a0160c0061 a0162c0167 a0168c0211 a0170c0204 a0171c0212 a0172c0164 a0173c0087 a0174c0103 a0180c0162 a0182c0086 a0183c0153 a0184c0090 a0185c0069 a0188c0118 a0196c0101 a0200c0097	a0001c0002t0001 a0001c0002t0002 a0001c0002t0028 others(95): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0028 a0001c0002t0152 a0001c0011t0001 a0001c0011t0002 a0001c0011t0099 a0001c0113t0001 a0001c0114t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0041 a0002c0001t0093 a0002c0001t0094 a0002c0001t0116 a0003c0004t0001 a0003c0004t0002 a0003c0004t0043 a0003c0004t0100 a0003c0004t0104 a0003c0022t0001 a0003c0022t0111 a0005c0005t0001 a0005c0005t0002 a0005c0005t0115 a0012c0012t0041 a0013c0023t0002 a0015c0015t0002 a0015c0015t0114 a0018c0040t0092 a0021c0028t0101 a0026c0024t0001 a0026c0084t0001 a0028c0048t0001 a0028c0048t0002 a0028c0210t0002 a0031c0056t0007 a0031c0217t0055 a0034c0020t0018 a0037c0030t0002 a0038c0051t0001 a0039c0035t0098 a0042c0025t0001 a0044c0047t0007 a0047c0026t0002 a0048c0031t0053 a0048c0031t0121 a0050c0043t0001 a0056c0037t0002 a0062c0044t0123 a0065c0141t0126 a0066c0111t0002 a0069c0205t0029 a0070c0132t0109 a0072c0231t0001 a0073c0129t0029 a0077c0075t0001 a0079c0159t0120 a0081c0173t0119 a0083c0128t0001 a0085c0180t0002 a0086c0125t0002 a0088c0066t0007 a0092c0234t0018 a0094c0179t0002 a0100c0156t0113 a0101c0079t0028 a0106c0089t0047 a0109c0191t0002 a0112c0229t0001 a0121c0158t0007 a0125c0074t0047 a0131c0192t0007 a0133c0139t0149 a0144c0223t0007 a0146c0199t0028 a0147c0201t0002 a0148c0070t0001 a0151c0093t0118 a0153c0123t0001 a0154c0163t0001 a0155c0110t0001 a0160c0061t0001 a0162c0167t0002 a0168c0211t0122 a0170c0204t0108 a0171c0212t0112 a0172c0164t0001 a0173c0087t0002 a0174c0103t0001 a0180c0162t0001 a0182c0086t0001 a0183c0153t0002 a0184c0090t0001 a0185c0069t0001 a0188c0118t0029 a0196c0101t0002 a0200c0097t0095	a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0118 others(140): Show a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0212 a0001c0002t0001g0236 a0001c0002t0001g0242 a0001c0002t0001g0248 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0002g0065 a0001c0002t0028g0060 a0001c0002t0152g0072 a0001c0011t0001g0162 a0001c0011t0001g0169 a0001c0011t0002g0158 a0001c0011t0099g0166 a0001c0113t0001g0117 a0001c0114t0002g0059 a0002c0001t0001g0062 a0002c0001t0001g0067 a0002c0001t0001g0115 a0002c0001t0001g0151 a0002c0001t0001g0182 a0002c0001t0001g0233 a0002c0001t0001g0257 a0002c0001t0001g0299 a0002c0001t0002g0005 a0002c0001t0002g0111 a0002c0001t0002g0116 a0002c0001t0041g0183 a0002c0001t0093g0076 a0002c0001t0094g0149 a0002c0001t0116g0074 a0003c0004t0001g0077 a0003c0004t0001g0101 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0243 a0003c0004t0001g0244 a0003c0004t0001g0295 a0003c0004t0002g0096 a0003c0004t0002g0175 a0003c0004t0043g0224 a0003c0004t0043g0279 a0003c0004t0100g0225 a0003c0004t0104g0078 a0003c0022t0001g0159 a0003c0022t0001g0163 a0003c0022t0111g0179 a0005c0005t0001g0344 a0005c0005t0001g0357 a0005c0005t0001g0359 a0005c0005t0001g0381 a0005c0005t0002g0309 a0005c0005t0002g0345 a0005c0005t0002g0346 a0005c0005t0002g0347 a0005c0005t0002g0348 a0005c0005t0115g0356 a0012c0012t0041g0363 a0013c0023t0002g0311 a0015c0015t0002g0089 a0015c0015t0002g0129 a0015c0015t0114g0210 a0018c0040t0092g0205 a0021c0028t0101g0042 a0026c0024t0001g0039 a0026c0024t0001g0040 a0026c0084t0001g0047 a0028c0048t0001g0322 a0028c0048t0002g0343 a0028c0210t0002g0321 a0031c0056t0007g0008 a0031c0217t0055g0018 a0034c0020t0018g0002 a0034c0020t0018g0245 a0037c0030t0002g0031 a0037c0030t0002g0046 a0038c0051t0001g0327 a0038c0051t0001g0385 a0039c0035t0098g0083 a0042c0025t0001g0003 a0044c0047t0007g0192 a0044c0047t0007g0193 a0047c0026t0002g0049 a0047c0026t0002g0056 a0048c0031t0053g0013 a0048c0031t0121g0034 a0050c0043t0001g0004 a0056c0037t0002g0068 a0056c0037t0002g0201 a0062c0044t0123g0085 a0065c0141t0126g0125 a0066c0111t0002g0121 a0069c0205t0029g0320 a0070c0132t0109g0105 a0072c0231t0001g0323 a0073c0129t0029g0114 a0077c0075t0001g0035 a0079c0159t0120g0112 a0081c0173t0119g0161 a0083c0128t0001g0092 a0085c0180t0002g0171 a0086c0125t0002g0131 a0088c0066t0007g0022 a0092c0234t0018g0388 a0094c0179t0002g0168 a0100c0156t0113g0080 a0101c0079t0028g0041 a0106c0089t0047g0269 a0109c0191t0002g0303 a0112c0229t0001g0373 a0121c0158t0007g0294 a0125c0074t0047g0028 a0131c0192t0007g0329 a0133c0139t0149g0143 a0144c0223t0007g0314 a0146c0199t0028g0354 a0147c0201t0002g0306 a0148c0070t0001g0057 a0151c0093t0118g0239 a0153c0123t0001g0221 a0154c0163t0001g0229 a0155c0110t0001g0289 a0160c0061t0001g0014 a0162c0167t0002g0081 a0168c0211t0122g0368 a0170c0204t0108g0367 a0171c0212t0112g0350 a0172c0164t0001g0145 a0173c0087t0002g0140 a0174c0103t0001g0141 a0180c0162t0001g0184 a0182c0086t0001g0058 a0183c0153t0002g0144 a0184c0090t0001g0268 a0185c0069t0001g0033 a0188c0118t0029g0063 a0196c0101t0002g0122 a0200c0097t0095g0066	148	400	0.3700	-85	c.16 others(96): Show c.1647_*1731delTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGACCA GGTGGGCGGCCGGCTCCGCGGGACGGTCGCCTGGACCTTCCCGGGGTGGA C	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1647		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136251956	CGGGAAGG others(78): Show CGGGAAGGTCCAGGCGACCGTCCCGCGGAGCCGGCCGCCCACCTGGTCCA CCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0164 a0164	a0164c0150 a0164c0150	a0164c0150t0088 a0164c0150t0088	a0164c0150t0088g0237 a0164c0150t0088g0237	1	400	0.0025	-85	c.15 others(96): Show c.1553_*1637delAGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAG GGTGGACCAGGTGGGCGGCCGGCTCCGCGGGACGGTCGCCTGGACCTTCC C	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1553		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136251971	GACCGTCC others(78): Show GACCGTCCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCG GCCGCCCACCCAGTCCACCCTGGGAAGGTCCAGGCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01952.hp2 NA18948.hp2 others(1): Show HG01175.hp2 HG01952.hp2 NA18948.hp2 NA19054.hp2	a0007 a0008 a0007 a0008	a0007c0014 a0007c0046 a0008c0008 a0007c0014 a0007c0046 a0008c0008	a0007c0014t0019 a0007c0046t0058 a0008c0008t0019 a0007c0014t0019 a0007c0046t0058 a0008c0008t0019	a0007c0014t0019g0007 a0007c0046t0058g0088 a0008c0008t0019g0134 a0007c0014t0019g0007 a0007c0046t0058g0088 a0008c0008t0019g0134	4	400	0.0100	-85	c.15 others(96): Show c.1538_*1622delTGCCTGGACCTTCCCAGGGTGGACTGGGTGGGCG GCCGGCTCTTCCCAGGGTGGACCAGGTGGGCGGCCGGCTCCGCGGGACGG T	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1538		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136251975	GTCCCGCG others(78): Show GTCCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCGGCCG CCCACCCAGTCCACCCTGGGAAGGTCCAGGCAACCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0039 a0039	a0039c0035 a0039c0035	a0039c0035t0096 a0039c0035t0096	a0039c0035t0096g0273 a0039c0035t0096g0273	1	400	0.0025	-85	c.15 others(96): Show c.1534_*1618delTGGTTGCCTGGACCTTCCCAGGGTGGACTGGGTG GGCGGCCGGCTCTTCCCAGGGTGGACCAGGTGGGCGGCCGGCTCCGCGGG A	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1534		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252000	GGTCCACC others(78): Show GGTCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCTGGGAAGGT CCAGGCAACCATCCCGCACAGCCGGCCGCCCACCCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp2 NA18955.hp2 NA18941.hp2 NA18955.hp2	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0033 a0009c0006t0033	a0009c0006t0033g0240 a0009c0006t0033g0298 a0009c0006t0033g0240 a0009c0006t0033g0298	2	400	0.0050	-85	c.15 others(96): Show c.1509_*1593delGGGGTGGGCGGCCGGCTGTGCGGGATGGTTGCCT GGACCTTCCCAGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGA C	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1509		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252203	CCCACCCT others(78): Show CCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCCGGGAAGGTCC AGGCGACCGTCCTGCGGAGCCGGCCGCCCACCTGGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18998.hp1 NA19064.hp2 NA18977.hp2 NA18998.hp1 NA19064.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0030 a0004c0003t0030	a0004c0003t0030g0087 a0004c0003t0030g0206 a0004c0003t0030g0272 a0004c0003t0030g0087 a0004c0003t0030g0206 a0004c0003t0030g0272	3	400	0.0075	-85	c.13 others(96): Show c.1306_*1390delACCAGGTGGGCGGCCGGCTCCGCAGGACGGTCGC CTGGACCTTCCCGGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAGGGTG G	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1306		chr9	TogoVar
CCL17_chr16_57399767_57421063	57403220	ATTATTAT others(78): Show ATTATTATCTATAATATATATAATATATATTATTATCTATAATATATATA ATATATATTATTATCTATAATATATATAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG01257.hp1 others(5): Show HG00639.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp2 HG02738.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0061 others(1): Show a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0061 a0001c0001t0002g0090	8	388	0.0206	-85	c.-16 others(96): Show c.-1675_-1591delTTATTATCTATAATATATATAATATATATTATTA TCTATAATATATATAATATATATTATTATCTATAATATATATAATATATA T	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1546		chr16	TogoVar
CELF1_chr11_47460937_47558132	47541697	AGAAAGAA others(78): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACGAAAG AAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18963.hp1 HG01975.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0259 a0001c0001t0003g0048 a0001c0001t0002g0259 a0001c0001t0003g0048	2	340	0.0059	-85	c.-15 others(106): Show c.-154+11210_-154+11294delCGTTCTTTCTTTCGTTCTTTCTTT CGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CLDN8_chr21_30209006_30221097	30210219	CATATATA others(78): Show CATATATATATATATATATATATATATAGTCTCCCTAATTGTAATTCAAG GTACGTATGTGTATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0000 a0005c0004t0004g0000	1	466	0.0022	-85	c.49 others(96): Show c.4944_*5028delATATATATATATATATATATATATACACATACGT ACCTTGAATTACAATTAGGGAGACTATATATATATATATATATATATATA T	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3786		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210279	GTATATAT others(78): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT AGTCTCCCTAATTCTAATTCAAGGTACATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-85	c.48 others(96): Show c.4884_*4968delTATATATATGTACCTTGAATTAGAATTAGGGAGA CTATATATATATATATATATATATATATATATATATATATATATATATAT A	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3726		chr21	TogoVar
CNKSR3_chr6_154382515_154515685	154504162	TAAAAGTG others(78): Show TAAAAGTGAGGAAATATGGCTCAAACTAATTTACCCAAGGAAAGCTCACG AAATTTGCAAGAGGCATTTATCACTCCGCTAATCAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0288 a0001c0002t0022g0288	1	342	0.0029	-85	c.52+ others(100): Show c.52+5816_52+5900delTTGATTAGCGGAGTGATAAATGCCTCTTGC AAATTTCGTGAGCTTTCCTTGGGTAAATTAGTTTGAGCCATATTTCCTCA CTTTT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
COBL_chr7_51011212_51321809	51288796	TGGGAAAT others(78): Show TGGGAAATAAGAACTGAATTCAAATACTAGTCTTCAAGATGGATATCTAT GGAAATACTCTTCTACCTACTCAACTAATTGTATGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00642.hp2 others(33): Show HG00408.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp2 HG01169.hp2 HG01243.hp2 HG01934.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02155.hp1 HG02622.hp2 HG03139.hp2 HG03704.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18949.hp1 NA18950.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19055.hp1 NA19068.hp1 NA19085.hp1 NA19087.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0013 a0022 a0023	a0001c0003 a0001c0005 a0001c0009 others(13): Show a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0018 a0002c0002 a0002c0004 a0002c0015 a0003c0001 a0004c0012 a0007c0024 a0008c0014 a0009c0017 a0013c0041 a0022c0039 a0023c0038	a0001c0003t0001 a0001c0005t0003 a0001c0009t0001 others(14): Show a0001c0003t0001 a0001c0005t0003 a0001c0009t0001 a0001c0010t0001 a0001c0018t0003 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0015t0014 a0003c0001t0001 a0004c0012t0015 a0007c0024t0016 a0008c0014t0003 a0009c0017t0001 a0013c0041t0002 a0022c0039t0002 a0023c0038t0001	a0001c0003t0001g0157 a0001c0005t0003g0134 a0001c0005t0003g0150 others(33): Show a0001c0003t0001g0157 a0001c0005t0003g0134 a0001c0005t0003g0150 a0001c0005t0003g0161 a0001c0009t0001g0014 a0001c0010t0001g0129 a0001c0018t0003g0144 a0002c0002t0001g0158 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0138 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0156 a0002c0002t0002g0160 a0002c0004t0001g0139 a0002c0004t0001g0141 a0002c0015t0014g0013 a0003c0001t0001g0149 a0004c0012t0015g0230 a0007c0024t0016g0229 a0008c0014t0003g0145 a0008c0014t0003g0146 a0008c0014t0003g0155 a0008c0014t0003g0162 a0009c0017t0001g0151 a0013c0041t0002g0140 a0022c0039t0002g0137 a0023c0038t0001g0154	36	230	0.1565	-85	c.41+ others(102): Show c.41+27712_41+27796delGCATACAATTAGTTGAGTAGGTAGAAGA GTATTTCCATAGATATCCATCTTGAAGACTAGTATTTGAATTCAGTTCTT ATTTCCC	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45489912	GCCCCACA others(78): Show GCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCA CACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0012 a0012	a0012c0092 a0012c0092	a0012c0092t0002 a0012c0092t0002	a0012c0092t0002g0006 a0012c0092t0002g0006	1	292	0.0034	-85	c.196 others(102): Show c.1960-345_1960-261delGACTTCCCCCTCCCCCACTTCCCCCTGC CCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCT CCTCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501782	CTCCACAG others(78): Show CTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01255.hp2 others(3): Show HG00323.hp2 HG00735.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp2 HG02698.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0002 a0001c0095 others(1): Show a0001c0001 a0001c0002 a0001c0095 a0017c0068	a0001c0001t0001 a0001c0002t0002 a0001c0095t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0095t0002 a0017c0068t0002	a0001c0001t0001g0203 a0001c0002t0002g0088 a0001c0002t0002g0114 others(3): Show a0001c0001t0001g0203 a0001c0002t0002g0088 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0095t0002g0089 a0017c0068t0002g0107	6	292	0.0206	-85	c.268 others(104): Show c.2684-2228_2684-2144delTCCACAGCCGGTCACCTCTCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL26A1_chr7_101357875_101564024	101489667	TCCTTCCT others(78): Show TCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCATT CTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0152 a0001c0001t0009g0152	1	174	0.0058	-85	c.385 others(104): Show c.385+41881_385+41965delCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTT TCTTTCTTG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL6A1_chr21_45976770_46010048	45987929	CGGGGTCC others(78): Show CGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGG GCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0007 a0001c0032t0007	a0001c0032t0007g0046 a0001c0032t0007g0046	1	128	0.0078	-85	c.804 others(100): Show c.804+280_804+364delTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGG AGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158280	GTCTCCCC others(78): Show GTCTCCCCTCTCCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	350	0.0029	-85	c.510 others(104): Show c.510+24114_510+24198delCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD5_chr8_144845176_144858048	144849773	TGGGCTCT others(78): Show TGGGCTCTAGCCTCCTCCCTTGCACCCCTCCACACAGCAGCCAATCACCA GATCACGTCTCTCCTCTGCTGAAAACCCTCAGAAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	428	0.0023	-85	c.80 others(94): Show c.806_*890delCCTTCTGAGGGTTTTCAGCAGAGGAGAGACGTGATC TGGTGATTGGCTGCTGTGTGGAGGGGTGCAAGGGAGGAGGCTAGAGCCC	COMMD5	ENSG00000170619.10	transcript	ENST00000305103.4	protein_coding		402		chr8	TogoVar
CPSF2_chr14_92116969_92177145	92173344	TGTATATA others(78): Show TGTATATATATATACGTATATATATATGTATATATATACGTATATATATA TATACACATATGTATATATATATATGTGTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0028 a0001c0001t0010g0028	1	388	0.0026	-85	c.11 others(98): Show c.11601_*11685delGTATATATATATACGTATATATATATGTATAT ATATACGTATATATATATATACACATATGTATATATATATATGTGTATAT ATA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1200		chr14	TogoVar
CSMD1_chr8_2930361_4999914	3411950	ATATACAC others(78): Show ATATACACGTATATATGCACGTATATATACACGTATATATACGTGTATAT ACACGTATATATATACATATACACACGTATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp1 NA18906.hp2 HG02647.hp2 HG03139.hp1 NA18906.hp2	a0002 a0006 a0002 a0006	a0002c0074 a0002c0084 a0006c0067 a0002c0074 a0002c0084 a0006c0067	a0002c0074t0041 a0002c0084t0018 a0006c0067t0059 a0002c0074t0041 a0002c0084t0018 a0006c0067t0059	a0002c0074t0041g0031 a0002c0084t0018g0087 a0006c0067t0059g0079 a0002c0074t0041g0031 a0002c0084t0018g0087 a0006c0067t0059g0079	3	126	0.0238	-85	c.156 others(104): Show c.1562-2430_1562-2346delGTATATATACGTGTGTATATGTATAT ATATACGTGTATATACACGTATATATACGTGTATATATACGTGCATATAT ACGTGTATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542607	TATATATA others(78): Show TATATATATATATATATATATATATATATATATGTATATATATATATATA TATATATATATATATGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18979.hp2 NA19090.hp1 HG02257.hp2 NA18979.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0261 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0004g0261 a0001c0001t0006g0186 a0001c0001t0006g0187	3	390	0.0077	-85	c.230 others(102): Show c.230+7383_230+7467delTATATATATATATATATATACATATATA TATATATATATATATATATATATACATATATATATATATATATATATATA TATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542608	ATATATAT others(78): Show ATATATATATATATATATATATATATATATATGTATATATATATATATAT ATATATATATATATGTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18965.hp2 NA18969.hp2 others(2): Show NA18954.hp1 NA18965.hp2 NA18969.hp2 NA19003.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0034 a0001c0001t0006 a0001c0001t0020 a0001c0001t0034	a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 others(2): Show a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0020g0177 a0001c0001t0034g0178	5	390	0.0128	-85	c.230 others(102): Show c.230+7382_230+7466delATATATATATATATATATATACATATAT ATATATATATATATATATATATATACATATATATATATATATATATATAT ATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CST9L_chr20_23559732_23573484	23561006	TCCTTCCT others(78): Show TCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTC TTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-85	c.38 others(96): Show c.3857_*3941delGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGA AAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAG G	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3725		chr20	TogoVar
CTDP1_chr18_79674803_79759503	79745270	TCCCGTGC others(78): Show TCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTCCCTG CGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0317 a0004c0004t0003g0317	1	378	0.0027	-85	c.274 others(104): Show c.2748-8379_2748-8295delCGTGCGCGTTCTGTCCCTGCGTCCCT CCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTGCCCGC GTCCCTCCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(78): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18983.hp1 HG02071.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0152 a0001c0002t0002g0141 a0001c0002t0002g0152	2	380	0.0053	-85	c.121 others(102): Show c.1218+333_1218+417delCTCCCGCGCTGCCTGCGCCTCCCGCGCT GCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCG CGCTGCC	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211447	ATTTACTC others(78): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02630.hp1 HG02165.hp2 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0035 a0001c0004t0004 a0001c0003t0035 a0001c0004t0004	a0001c0003t0035g0126 a0001c0004t0004g0118 a0001c0003t0035g0126 a0001c0004t0004g0118	2	148	0.0135	-85	c.212 others(106): Show c.2123-33381_2123-33297delATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211683	TTTTACTC others(78): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19081.hp2 NA18993.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0007g0037 a0001c0001t0007g0121	2	148	0.0135	-85	c.212 others(106): Show c.2123-33617_2123-33533delTCACAAAACATGAGAGTAAATATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211748	ATTTACTC others(78): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0095 a0001c0001t0028g0095	1	148	0.0068	-85	c.212 others(106): Show c.2123-33682_2123-33598delATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212322	TTTTACTC others(78): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0132 a0001c0001t0007g0132	1	148	0.0068	-85	c.212 others(106): Show c.2123-34256_2123-34172delTCACAAAACATGAGAGTAAATATC ACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAAC ATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233463430	CTCCTCAC others(78): Show CTCCTCACTCCACGCATCTCCTCACTCCACGCATGTCCTCACTGCACGCA TGTCCTCACTGCACGCATGTCCTCACTGCACGCATG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03453.hp1 HG01358.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0041 a0001c0004t0043 a0001c0004t0041 a0001c0004t0043	a0001c0004t0041g0161 a0001c0004t0043g0173 a0001c0004t0041g0161 a0001c0004t0043g0173	2	336	0.0060	-85	c.318 others(102): Show c.3187-700_3187-616delGTCCTCACTGCACGCATGTCCTCACTGC ACGCATGTCCTCACTGCACGCATGTCCTCACTCCACGCATCTCCTCACTC CACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51774698	AGTATTCT others(78): Show AGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01255.hp1 others(5): Show HG01081.hp2 HG01109.hp2 HG01255.hp1 HG01943.hp1 HG01993.hp2 HG02148.hp2 HG02273.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0003 a0002c0010t0003 a0002c0002t0003 a0002c0010t0003	a0002c0002t0003g0002 a0002c0002t0003g0049 a0002c0002t0003g0050 others(4): Show a0002c0002t0003g0002 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0176 a0002c0002t0003g0231 a0002c0002t0003g0252 a0002c0010t0003g0253	8	420	0.0191	-85	c.364 others(100): Show c.364-749_364-665delGTAGGAGAATACATGTAGGAGAATACTGTA GGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAATACATGTAGTAG AATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774973	AGTATTCT others(78): Show AGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02922.hp1 others(3): Show HG02486.hp2 HG02559.hp1 HG02922.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0190 a0002c0002t0003g0217 others(2): Show a0002c0002t0003g0017 a0002c0002t0003g0190 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0247	6	420	0.0143	-85	c.364 others(101): Show c.364-1024_364-940delGTAGGAGAATACATGTAGGAGAATACTGT AGGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAATACATGTAGGA GAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775248	AGTATTCT others(78): Show AGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01255.hp1 others(7): Show HG00735.hp1 HG01109.hp1 HG01255.hp1 HG02148.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02896.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0259 a0002c0002t0003g0049 a0002c0002t0003g0050 others(6): Show a0001c0001t0003g0259 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0154 a0002c0002t0003g0157 a0002c0002t0003g0175 a0002c0002t0003g0192 a0002c0002t0003g0207 a0002c0002t0003g0209	10	420	0.0238	-85	c.364 others(102): Show c.364-1299_364-1215delGTAGGAGAATACATGTAGGAGAATACTG TAGGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAATACATGTAGT AGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775523	AGTATTCT others(78): Show AGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02976.hp2 HG01361.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0176 a0002c0002t0003g0232 a0002c0002t0003g0176 a0002c0002t0003g0232	2	420	0.0048	-85	c.363 others(102): Show c.363+1452_364-1490delGTAGGAGAATACATGTAGGAGAATACTG TAGGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAATACATGTAGG AGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775780	TCTACAGT others(78): Show TCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp1 HG03453.hp2 others(9): Show HG00423.hp1 HG01243.hp1 HG03453.hp2 HG04204.hp1 NA18612.hp1 NA18964.hp2 NA18990.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp2 NA19074.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0070 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0002c0002t0003g0042 a0002c0002t0003g0174	12	420	0.0286	-85	c.363 others(102): Show c.363+1195_363+1279delGAGAATACTGTAGGAGAATACTGTAGGA GAATACATGTACTGTAGGAGAATACATGTAGGAGAATACTGTAGGAGAAT ACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775889	TCTACAGT others(78): Show TCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTACTC TACAGTATTCTCCTACATGTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	420	0.0024	-85	c.363 others(102): Show c.363+1086_363+1170delGAGAATACTGTAGAATACATGTAGGAGA ATACTGTAGAGTACATGTAGGAGAATACTGTAGAATACATGTAGGAGAAT ACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2279651	GAGAGAGA others(78): Show GAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	50	0.0200	-85	c.388 others(104): Show c.388+11766_388+11850delTTCTCTCTCCCCCATTTCCTCCTCTT CCTTCTCTCTCCCTCTCGTTTGCCCTCCCTCTCTCTCCCCGTTCCCTCTC CATCTCTCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2282211	AAGAGAGA others(78): Show AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	50	0.0200	-85	c.388 others(102): Show c.388+9206_388+9290delCTCTCTTTCCCCCATTTCCTCCTCTTCC TTCTCTCTCCCTCTCGTTTGCCCTCCCTCTCTCTCCCCGTTCCCTCTCCA TCTCTCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2320174	TCTCAGTG others(78): Show TCTCAGTGTCCCTCAAGATTCTTAGAACACAGAACTTGCCCATTCATTTA CATATTGCGCTGTTGTGGTAGCGATCATATGACCCA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	50	0.0200	-85	c.287 others(104): Show c.287-28656_287-28572delTGGGTCATATGATCGCTACCACAACA GCGCAATATGTAAATGAATGGGCAAGTTCTGTGTTCTAAGAATCTTGAGG GACACTGAG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DOCK8_chr9_209865_470255	400442	CCACCACC others(78): Show CCACCACCAGCATCTTCACCATCACCACCACCCACCTCCTTCACCATCAC CACCACCTCCACCATCACCACCACCACCTCCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0022 a0022	a0022c0086 a0022c0086	a0022c0086t0006 a0022c0086t0006	a0022c0086t0006g0030 a0022c0086t0006g0030	1	256	0.0039	-85	c.323 others(104): Show c.3234+1192_3234+1276delGCATCTTCACCATCACCACCACCCAC CTCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCA TCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK5_chr20_54470593_54656169	54481009	CATCTATC others(78): Show CATCTATCTATCTATCATCTATCTATCATCTATCTATCATCTGTCTATCA TCTATCTATCATCTATCTATCTATCATCTACCATCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG02109.hp1 others(11): Show HG01074.hp1 HG02055.hp1 HG02109.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03540.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 others(4): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0007 a0001c0002t0015	a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0012g0127 others(11): Show a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0012g0127 a0001c0001t0012g0129 a0001c0001t0016g0063 a0001c0001t0020g0123 a0001c0001t0020g0124 a0001c0001t0021g0125 a0001c0001t0021g0128 a0001c0002t0001g0118 a0001c0002t0007g0119 a0001c0002t0007g0120 a0001c0002t0015g0109 a0001c0002t0015g0126	14	130	0.1077	-85	c.66+ others(100): Show c.66+5009_66+5093delTATCATCTATCTATCATCTATCTATCATCT GTCTATCATCTATCTATCATCTATCTATCTATCATCTACCATCTATCTAT CTATC	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
EBI3_chr19_4224523_4242528	4228423	CTCTCTGT others(78): Show CTCTCTGTCTCTGTCATCTCCCTGTCTCTCTATCCCTCTATCTCTGTGTC CTCCTCTCATCTGTCTCTCTGACTCTCTCATCTTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 NA18906.hp2 HG02451.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	2	438	0.0046	-85	c.-11 others(96): Show c.-1127_-1043delTCTCTGTCTCTGTCATCTCCCTGTCTCTCTATCC CTCTATCTCTGTGTCCTCCTCTCATCTGTCTCTCTGACTCTCTCATCTTT G	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding		1099		chr19	TogoVar

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