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
COPE_chr19_18894514_18924387	18902817	G G	GAAGAAAG others(44): Show GAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0263 a0003c0004t0001g0263	1	312	0.0032	51	c.735 others(66): Show c.735+450_735+451insTCTTTCTTTCTTTCTCTTTCTTTCTTTCTT TCCTTTCTTTCTTTCTTTCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPRS_chr17_31846871_31864244	31859356	C C	CGGGGGCG others(44): Show CGGGGGCGGGGCGGCGCAGGGGGCGGGGCGGCGCAGGGGGCGGGGCGGCG CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02027.hp2 HG03688.hp2 others(1): Show HG00597.hp1 HG02027.hp2 HG03688.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0029	4	128	0.0313	51	c.-15 others(60): Show c.-158_-157insTGCGCCGCCCCGCCCCCTGCGCCGCCCCGCCCCCTG CGCCGCCCCGCCCCC	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding		113		chr17	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAA AG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	149	0.0067	51	c.308 others(68): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPNE4_chr3_131528569_132040014	131978450	A A	ATATATTT others(44): Show ATATATTTATATATTTATATATATTTATATATATTTATATATTTATATAT AT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	83	0.0120	51	c.-2+ others(68): Show c.-2+56116_-2+56117insATATATATAAATATATAAATATATATAA ATATATATAAATATATAAATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPT1C_chr19_49686116_49718731	49702007	A A	AATATATT others(44): Show AATATATTTATTTATAAATAAATATATATTTATTTATAAATTATAAATAA AT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(163): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0001c0009 a0002c0003 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0002c0003t0001 a0002c0003t0003 a0003c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(144): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0102 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0085 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0305 a0001c0006t0001g0005 a0001c0006t0001g0148 a0001c0006t0001g0151 a0001c0008t0001g0016 a0001c0009t0001g0002 a0002c0003t0001g0139 a0002c0003t0001g0221 a0002c0003t0003g0053 a0003c0010t0001g0285	166	307	0.5407	51	c.693 others(66): Show c.693+391_693+392insAAATATATATTTATTTATAAATTATAAATA AATATATATTTATTTATAAAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREBBP_chr16_3720054_3885713	3759588	C C	CAAAAAAA others(44): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0221 a0001c0004t0006g0221	1	212	0.0047	51	c.325 others(68): Show c.3251-617_3251-616insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	16/30			chr16	TogoVar
CRLF2_chrX_1185490_1217649	1191361	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG01993.hp1 others(1): Show HG01175.hp2 HG01496.hp1 HG01993.hp1 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0064 a0002c0005t0001g0060	4	113	0.0354	51	c.853 others(66): Show c.853-202_853-201insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	7/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240923992	C C	CCCCCACA others(44): Show CCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCA GT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	320	0.0031	51	c.488 others(68): Show c.488+1363_488+1364insTCCCCACACTAACCCGGCCCCCACACTA ACCCAGTCCCCACACTAACCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924631	A A	AACCCAGT others(44): Show AACCCAGTCCCCACACTAACCCGGCCCCCACACTAACACGGCCCCCACAC TG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0217 a0007c0007t0001g0217	1	310	0.0032	51	c.489 others(68): Show c.489-1093_489-1092insACCCAGTCCCCACACTAACCCGGCCCCC ACACTAACACGGCCCCCACACTG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924638	C C	CCCCCACA others(44): Show CCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCCACACTAACCC GG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG03540.hp2 others(1): Show HG02280.hp1 HG02615.hp2 HG03540.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0133 a0002c0002t0001g0128 a0002c0002t0001g0139 others(1): Show a0001c0001t0001g0133 a0002c0002t0001g0128 a0002c0002t0001g0139 a0002c0002t0001g0235	4	340	0.0118	51	c.489 others(68): Show c.489-1082_489-1081insACACTGACCCGGCCCCCACACTGACCCA GCCCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924639	C C	CCCCACAC others(44): Show CCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCA GT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	343	0.0029	51	c.489 others(68): Show c.489-1082_489-1081insACACTAACCCAGTCCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924672	A A	AGCCCCCA others(44): Show AGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAATC CG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp1 HG02559.hp2 HG03041.hp1	a0011 a0018 a0011 a0018	a0011c0042 a0018c0016 a0011c0042 a0018c0016	a0011c0042t0002 a0018c0016t0002 a0011c0042t0002 a0018c0016t0002	a0011c0042t0002g0268 a0018c0016t0002g0245 a0011c0042t0002g0268 a0018c0016t0002g0245	2	279	0.0072	51	c.489 others(68): Show c.489-1041_489-1040insAACCCAGTCCCCACACTGACCCAGCCCC CACACTAATCCGGCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924930	C C	CCCCCACA others(44): Show CCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCC GG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18984.hp1 NA19012.hp2 NA18962.hp2 NA18984.hp1 NA19012.hp2	a0006 a0011 a0006 a0011	a0006c0006 a0011c0038 a0006c0006 a0011c0038	a0006c0006t0001 a0011c0038t0001 a0006c0006t0001 a0011c0038t0001	a0006c0006t0001g0033 a0006c0006t0001g0073 a0011c0038t0001g0068 a0006c0006t0001g0033 a0006c0006t0001g0073 a0011c0038t0001g0068	3	319	0.0094	51	c.489 others(66): Show c.489-790_489-789insACACTGACCCGGCCCCCACACTAACCCGGC CCCTCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647496	T T	TTGTCCTC others(44): Show TTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACA CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02559.hp2 others(2): Show HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG03516.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0014 a0002c0002t0017 a0002c0002t0042 others(2): Show a0002c0002t0014 a0002c0002t0017 a0002c0002t0042 a0002c0002t0045 a0003c0003t0034	a0002c0002t0014g0026 a0002c0002t0017g0119 a0002c0002t0042g0021 others(2): Show a0002c0002t0014g0026 a0002c0002t0017g0119 a0002c0002t0042g0021 a0002c0002t0045g0003 a0003c0003t0034g0031	5	265	0.0189	51	c.53 others(62): Show c.5356_*5357insTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCC TCCTCCTCCTCCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2152		chr15	TogoVar
CRYBG1_chr6_106355717_106577017	106361970	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02055.hp1 HG02257.hp1 others(2): Show HG00438.hp2 HG02055.hp1 HG02257.hp1 HG02647.hp1 HG03927.hp2	a0002 a0010 a0025 others(2): Show a0002 a0010 a0025 a0032 a0034	a0002c0003 a0010c0012 a0025c0060 others(2): Show a0002c0003 a0010c0012 a0025c0060 a0032c0041 a0034c0042	a0002c0003t0003 a0010c0012t0002 a0025c0060t0004 others(2): Show a0002c0003t0003 a0010c0012t0002 a0025c0060t0004 a0032c0041t0003 a0034c0042t0001	a0002c0003t0003g0231 a0010c0012t0002g0216 a0025c0060t0004g0234 others(2): Show a0002c0003t0003g0231 a0010c0012t0002g0216 a0025c0060t0004g0234 a0032c0041t0003g0230 a0034c0042t0001g0227	5	228	0.0219	51	c.173 others(66): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(44): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0008 a0004c0009t0008	a0004c0009t0008g0186 a0004c0009t0008g0186	1	294	0.0034	51	c.49+ others(66): Show c.49+2035_49+2036insCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2_chr5_132068789_132081170	132078965	A A	ACCCCACA others(44): Show ACCCCACACCAACCCCCCCCCCCCCCCCCCCCAACCCCAAACAACACCAA CC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	450	0.0022	51	c.31 others(62): Show c.3113_*3114insCCCCACACCAACCCCCCCCCCCCCCCCCCCCAAC CCCAAACAACACCAACC	CSF2	ENSG00000164400.6	transcript	ENST00000296871.4	protein_coding		2796		chr5	TogoVar
CSMD1_chr8_2930361_4999914	3206623	T T	TGGGTGTA others(44): Show TGGGTGTATGTGTGTGGGGGTATGTCTGTGTGTGTGTGTATATGTGTGTG TG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0024 a0016c0028t0024	a0016c0028t0024g0040 a0016c0028t0024g0040	1	126	0.0079	51	c.486 others(70): Show c.4868-1004_4868-1003insCACACACACATATACACACACACACA GACATACCCCCACACACATACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	30/69			chr8	TogoVar
CSPP1_chr8_67059392_67201614	67159937	C C	CCTTCCTC others(44): Show CCTTCCTCCTTCCTTCCTTCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCC TT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0011 a0006c0006t0001g0011	1	140	0.0071	51	c.253 others(68): Show c.2538+806_2538+807insCCTTCCTTCCTTCTTCCTTCCTTCCTCC TTCCTTCCTTCTTCCTTCTTCCT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67159957	C C	CTTTTCTT others(44): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	80	0.0125	51	c.253 others(68): Show c.2538+823_2538+824insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165590959	T T	TGGGTAAC others(44): Show TGGGTAACAGGCAGAGGTTGCAACAGTTTGGAGGGCTCAGAAGAAGATAG GA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03209.hp2 HG03225.hp2 HG01496.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0235 a0001c0002t0012g0237 a0001c0002t0012g0191 a0001c0002t0012g0235 a0001c0002t0012g0237	3	244	0.0123	51	c.-23 others(68): Show c.-23-4083_-23-4033dupGGGTAACAGGCAGAGGTTGCAACAGTTT GGAGGGCTCAGAAGAAGATAGGA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST6_chr11_66007008_66018505	66014110	C C	CTAGGAGC others(44): Show CTAGGAGCCGCAGAGGGACAGAGATTGTCTAGCGCCCACAGGAGGGGTGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	51	c.71 others(60): Show c.710_*711insTAGGAGCCGCAGAGGGACAGAGATTGTCTAGCGCCC ACAGGAGGGGTGAGG	CST6	ENSG00000175315.3	transcript	ENST00000312134.3	protein_coding		606		chr11	TogoVar
CTDSPL2_chr15_44422629_44534038	44506412	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	145	0.0069	51	c.969 others(68): Show c.969+6613_969+6614insCTTTTTTTTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CYB5R2_chr11_7660104_7678500	7676139	G G	GCTGTAAC others(44): Show GCTGTAACCAATCCGCAGCTGTTCTGTACTGAGTTAGGTAAGGAATAAGA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	442	0.0023	51	c.-27 others(62): Show c.-2788_-2787insTCTCTTATTCCTTACCTAACTCAGTACAGAACAG CTGCGGATTGGTTACAG	CYB5R2	ENSG00000166394.15	transcript	ENST00000299498.11	protein_coding		2640		chr11	TogoVar
CYBA_chr16_88638289_88656053	88646325	C C	CGGACCGG others(44): Show CGGACCGGGGCTGCAAAGTCTCAGCACAAGGCAGACCCAGGGGGACGTGC GT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	102	0.0098	51	c.288 others(66): Show c.288-129_288-128insACGCACGTCCCCCTGGGTCTGCCTTGTGCT GAGACTTTGCAGCCCCGGTCC	CYBA	ENSG00000051523.12	transcript	ENST00000261623.8	protein_coding	4/5			chr16	TogoVar
CYP4F3_chr19_15635897_15667825	15650780	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0272 a0005c0012t0002g0272	1	214	0.0047	51	c.918 others(66): Show c.918+617_918+618insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTTCTTTCTTTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241765544	A A	AGGGGGGA others(44): Show AGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAG AG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0162 a0001c0001t0031g0162	1	410	0.0024	51	c.130 others(70): Show c.1307-2160_1307-2110dupGAGAAGTTGGGGAGATGGGAGCCCCG GGCTGAGGGAGTAGGAAGAGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766244	A A	AGGGGGGA others(44): Show AGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAG AG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0104 a0004c0005t0014g0104	1	410	0.0024	51	c.130 others(70): Show c.1307-1456_1307-1455insCTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DACH1_chr13_71432966_71872204	71735531	C C	CGTATACG others(44): Show CGTATACGGGATATACGTGTATATGGGATATACACGTATATGGGATATAC GT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 NA18522.hp2 HG02257.hp2 HG02922.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0018 a0001c0001t0004g0047 a0002c0002t0004g0077 a0001c0001t0004g0018 a0001c0001t0004g0047 a0002c0002t0004g0077	3	93	0.0323	51	c.849 others(70): Show c.849-53622_849-53621insACGTATATCCCATATACGTGTATATC CCATATACACGTATATCCCGTATAC	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(44): Show TCAGCGCGGGAAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGG CG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0054 a0001c0004t0002g0054	1	117	0.0085	51	c.121 others(68): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(44): Show TCAGCGCGGGAAGGCGCAGGCGGCGCGGGAGGCGCAGGCAGCGCGGGAGG CG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0042 a0001c0004t0002g0042	1	117	0.0085	51	c.121 others(68): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCCGCCTGCGCCTTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DCLK1_chr13_35763652_36136382	35826539	A A	AAGGAAGG others(44): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAA GG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0179 a0001c0001t0009g0179	1	114	0.0088	51	c.140 others(70): Show c.1407+1095_1407+1096insCCTTCCCTCCCTCCCTCCCTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251241	A A	ACACACCC others(44): Show ACACACCCCCACACCACACATCCCCCACACCCCCCAACACCCCCACACCC CC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0062 a0001c0001t0012g0062	1	70	0.0143	51	c.207 others(70): Show c.2073+1561_2073+1562insCCCCCACACCACACATCCCCCACACC CCCCAACACCCCCACACCCCCCACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251403	C C	CACACACC others(44): Show CACACACCTCACACCCCCCACACCCCCACACAACCCATACCCCACACCCC CA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG02976.hp1 others(2): Show HG02280.hp2 HG02818.hp1 HG02976.hp1 HG03209.hp1 NA19030.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0019 a0004c0005t0001 a0004c0005t0019	a0004c0005t0001g0001 a0004c0005t0001g0073 a0004c0005t0001g0074 others(2): Show a0004c0005t0001g0001 a0004c0005t0001g0073 a0004c0005t0001g0074 a0004c0005t0001g0075 a0004c0005t0019g0115	5	98	0.0510	51	c.207 others(70): Show c.2073+1719_2073+1720insACACACCTCACACCCCCCACACCCCC ACACAACCCATACCCCACACCCCCA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DDR2_chr1_162627464_162792405	162728065	A A	ACTATATA others(44): Show ACTATATATATCTATATATATCTATATATAGATATAATCACACTATATAT AT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp2 others(38): Show HG00423.hp2 HG00544.hp1 HG00558.hp2 HG01070.hp1 HG01071.hp1 HG01515.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02135.hp2 HG02165.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18959.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18995.hp1 NA19003.hp2 NA19009.hp1 NA19056.hp2 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19078.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0056 a0001c0001t0057 a0001c0002t0025	a0001c0001t0001g0215 a0001c0001t0002g0007 a0001c0001t0002g0019 others(38): Show a0001c0001t0001g0215 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0066 a0001c0001t0002g0107 a0001c0001t0002g0170 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0192 a0001c0001t0002g0214 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0167 a0001c0001t0056g0165 a0001c0001t0057g0166 a0001c0002t0025g0156	41	296	0.1385	51	c.82+ others(66): Show c.82+8939_82+8940insTCTATATATAGATATAATCACACTATATAT ATCTATATATATCTATATATA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX1_chr2_15586868_15636101	15611566	A A	ACCCCCCC others(44): Show ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA CC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0192 a0001c0004t0003g0192	1	353	0.0028	51	c.957 others(68): Show c.957-1652_957-1651insCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCCCC	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(44): Show CAGGAGAGGGGAGGGGGAGGGCAGGGCAGGGGAGGGCAGGGGAGGGGAGG GG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	85	0.0118	51	c.387 others(68): Show c.387+1234_387+1235insCCCCTCCCCTCCCCTGCCCTCCCCTGCC CTGCCCTCCCCCTCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(44): Show CAGGAGAGGGGGAGGGGAGGGCAGGGCAGGGGAGGGCAGGGGAGGGGAGG GG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	85	0.0118	51	c.387 others(68): Show c.387+1234_387+1235insCCCCTCCCCTCCCCTGCCCTCCCCTGCC CTGCCCTCCCCTCCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DENND6B_chr22_50304030_50332012	50307782	G G	GGGGAGGG others(44): Show GGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAGGGGGAGGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0271 a0002c0002t0001g0271	1	320	0.0031	51	c.43 others(62): Show c.4356_*4357insTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCC CCTCCCCTCCCCCTCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1247		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316980	C C	CAGGGGGG others(44): Show CAGGGGGGGGCCACGAGGACAGGGTGGGGGGGGGGGGCGGCGAGGACAGG AT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0049 a0003c0014t0049	a0003c0014t0049g0147 a0003c0014t0049g0147	1	297	0.0034	51	c.453 others(66): Show c.453+312_453+313insATCCTGTCCTCGCCGCCCCCCCCCCCCACC CTGTCCTCGTGGCCCCCCCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(44): Show GGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	194	0.0052	51	c.67 others(62): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCCC CCCACCGCCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DGKB_chr7_14140049_14907751	14212094	A A	ATTTACTC others(44): Show ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0086 a0001c0003t0015g0086	1	143	0.0070	51	c.212 others(72): Show c.2123-33944_2123-33943insGAGTAAATATCACAAAACATGAGA GTAAATATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233463392	A A	ACATCTCC others(44): Show ACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCA CG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19240.hp2 HG01884.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0150 a0001c0003t0007g0151 a0001c0003t0007g0150 a0001c0003t0007g0151	2	274	0.0073	51	c.318 others(68): Show c.3186+678_3187-701dupCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463498	G G	GTCCTCAC others(44): Show GTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCA TC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0149 a0001c0003t0005g0149	1	308	0.0032	51	c.318 others(68): Show c.3187-658_3187-657insCCACGCATCTCCTCACTCCACGCATCTC CTCACTCCACGCATCTCCTCACT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463507	G G	GCACGCAT others(44): Show GCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0128 a0001c0002t0003g0128	1	254	0.0039	51	c.318 others(68): Show c.3187-650_3187-649insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463515	G G	GTCCTCAC others(44): Show GTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCA TC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	159	0.0063	51	c.318 others(68): Show c.3187-564_3187-514dupCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2314358	A A	AGGGAAGG others(44): Show AGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGAAGGCAGGGAGGGAAGCAG GG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0034 a0005c0006t0004g0034	1	40	0.0250	51	c.287 others(70): Show c.287-22756_287-22755insCCCTGCTTCCCTCCCTGCCTTCCTCC TTCCCTCCCTGCCTCCCTCCTTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIABLO_chr12_122202668_122231052	122226363	A A	AGGGAGGC others(44): Show AGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG03579.hp2 NA19007.hp1 others(1): Show HG00621.hp1 HG03579.hp2 NA19007.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 others(1): Show a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0002t0004g0017	4	316	0.0127	51	c.-40 others(60): Show c.-400_-350dupGCCCGGCCCCGCCTCCCGCCCGGCCCCGCCTCCCGC CCGGCCCCGCCTCCC	DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding		312		chr12	TogoVar
DIAPH1_chr5_141510021_141624000	141622319	T T	TCAAAAGC others(44): Show TCAAAAGCCGGGCGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	334	0.0030	51	c.-34 others(62): Show c.-3456_-3406dupGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCT ACCACGCCCGGCTTTTG	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding		3320		chr5	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0050 a0002c0004t0001g0050	1	98	0.0102	51	c.180 others(68): Show c.180+6647_180+6648insAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar

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