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
C1orf50_chr1_42762249_42784491	42775776	A A	ATATATAT others(5): Show ATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0019 a0001c0001t0110g0019	1	418	0.0024	12	c.39 others(21): Show c.392_*393insTGTATATATATA	C1orf50	ENSG00000164008.17	transcript	ENST00000372525.7	protein_coding	5/5	393	INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf54_chr1_150267790_150285916	150284003	T T	TTTATTAT others(5): Show TTTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01168.hp1 others(3): Show HG01109.hp1 HG01109.hp2 HG01168.hp1 HG03239.hp2 HG03579.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0046	6	434	0.0138	12	c.31 others(23): Show c.3172_*3173insTTATTATTATTA	C1orf54	ENSG00000118292.9	transcript	ENST00000369099.8	protein_coding		3088		chr1	TogoVar
C1orf87_chr1_59985394_60078770	59988343	G G	GACAGACA others(5): Show GACAGACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0355 a0002c0002t0001g0355	1	382	0.0026	12	c.23 others(23): Show c.2329_*2330insGTGTGTGTCTGT	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding		2050		chr1	TogoVar
C1orf94_chr1_34171907_34224131	34209285	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG02257.hp2 others(15): Show HG00639.hp2 HG01071.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA19063.hp1 NA19068.hp1	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0017	a0002c0002 a0002c0006 a0005c0007 others(2): Show a0002c0002 a0002c0006 a0005c0007 a0006c0008 a0017c0028	a0002c0002t0006 a0002c0002t0029 a0002c0006t0001 others(9): Show a0002c0002t0006 a0002c0002t0029 a0002c0006t0001 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0006t0025 a0005c0007t0018 a0005c0007t0020 a0006c0008t0004 a0006c0008t0015 a0017c0028t0012	a0002c0002t0006g0173 a0002c0002t0029g0140 a0002c0006t0001g0038 others(14): Show a0002c0002t0006g0173 a0002c0002t0029g0140 a0002c0006t0001g0038 a0002c0006t0001g0251 a0002c0006t0001g0260 a0002c0006t0001g0262 a0002c0006t0003g0152 a0002c0006t0004g0108 a0002c0006t0004g0170 a0002c0006t0005g0053 a0002c0006t0005g0055 a0002c0006t0025g0056 a0005c0007t0018g0103 a0005c0007t0020g0026 a0006c0008t0004g0220 a0006c0008t0015g0281 a0017c0028t0012g0049	18	356	0.0506	12	c.152 others(31): Show c.1524+1075_1524+1086dupCACACACACACA	C1orf94	ENSG00000142698.15	transcript	ENST00000488417.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf141_chr20_2809987_2820830	2810079	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02559.hp2 HG02109.hp1 HG02451.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0002	3	414	0.0073	12	c.-49 others(23): Show c.-4972_-4971insTTTTTTTTTTTT	C20orf141	ENSG00000258713.3	transcript	ENST00000603872.2	protein_coding		4907		chr20	TogoVar
C20orf141_chr20_2809987_2820830	2820772	C C	CACTCAGG others(5): Show CACTCAGGAAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	12	c.49 others(23): Show c.4997_*4998insACTCAGGAAAGG	C20orf141	ENSG00000258713.3	transcript	ENST00000603872.2	protein_coding		4943		chr20	TogoVar
C20orf173_chr20_35521979_35534652	35530219	A A	AATTATTA others(5): Show AATTATTATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03098.hp2 HG03492.hp2 others(1): Show HG02145.hp1 HG03098.hp2 HG03492.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0001 a0002c0002t0001g0002	4	366	0.0109	12	c.-71 others(21): Show c.-713_-712insAATAATAATAAT	C20orf173	ENSG00000125975.14	transcript	ENST00000444723.3	protein_coding		568		chr20	TogoVar
C20orf173_chr20_35521979_35534652	35532595	A A	ACACACAC others(5): Show ACACACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0006 a0003c0004t0001g0006	2	366	0.0055	12	c.-30 others(23): Show c.-3089_-3088insCGTGTGTGTGTG	C20orf173	ENSG00000125975.14	transcript	ENST00000444723.3	protein_coding		2944		chr20	TogoVar
C20orf203_chr20_32626625_32678941	32628630	A A	AACACACA others(5): Show AACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG01358.hp1 others(4): Show HG00140.hp1 HG00673.hp2 HG01358.hp1 HG02976.hp1 NA18942.hp1 NA18982.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0034 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0095	7	360	0.0194	12	c.69 others(23): Show c.6939_*6940insGTGTGTGTGTGT	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding		2994		chr20	TogoVar
C20orf203_chr20_32626625_32678941	32630994	A A	AAGGGAGG others(5): Show AAGGGAGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG03225.hp2 HG02451.hp1 HG02615.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0216 a0001c0001t0012g0012 a0001c0001t0012g0216	3	360	0.0083	12	c.45 others(23): Show c.4575_*4576insCCCTTCCTCCCT	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding		630		chr20	TogoVar
C20orf203_chr20_32626625_32678941	32656863	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02451.hp1 HG02976.hp2 others(2): Show HG01496.hp1 HG02451.hp1 HG02976.hp2 HG03225.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0014 a0001c0001t0002g0189 a0001c0001t0002g0279 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0189 a0001c0001t0002g0279 a0001c0001t0012g0012	5	360	0.0139	12	c.-26 others(31): Show c.-263-4883_-263-4882insTTTTTTTTTTTT	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01168.hp1 others(5): Show HG00735.hp2 HG01069.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01891.hp1 HG03017.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0026 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0026 a0001c0002t0004	a0001c0001t0003g0339 a0001c0001t0006g0267 a0001c0001t0026g0169 others(5): Show a0001c0001t0003g0339 a0001c0001t0006g0267 a0001c0001t0026g0169 a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0203	8	360	0.0222	12	c.-26 others(31): Show c.-264+6823_-264+6834dupTATATATATATA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTTTATAT others(5): Show TTTTATATATATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	360	0.0028	12	c.-26 others(31): Show c.-264+6834_-264+6835insTATATATATAAA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf203_chr20_32626625_32678941	32676124	A A	AACACACA others(5): Show AACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0216 a0001c0001t0012g0216	1	360	0.0028	12	c.-27 others(23): Show c.-2757_-2756insGTGTGTGTGTGT	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding		2184		chr20	TogoVar
C20orf96_chr20_265863_295750	273903	A A	AAGGAAGG others(5): Show AAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0161 a0002c0005t0001g0161	1	410	0.0024	12	c.103 others(31): Show c.1031+2064_1031+2065insCCCTCCCTTCCT	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	10/10			chr20	TogoVar
C20orf96_chr20_265863_295750	273903	A A	AAGGGAGG others(5): Show AAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00609.hp2 others(19): Show HG00140.hp2 HG00544.hp1 HG00609.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01261.hp2 HG01981.hp2 HG02074.hp1 HG02698.hp2 HG03490.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18747.hp1 NA18940.hp2 NA18947.hp1 NA19012.hp2 NA19043.hp2 NA19079.hp1 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0003c0013 a0006c0012	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0002c0005t0001 a0003c0013t0001 a0006c0012t0001	a0001c0001t0001g0282 a0002c0002t0001g0012 a0002c0002t0001g0136 others(18): Show a0001c0001t0001g0282 a0002c0002t0001g0012 a0002c0002t0001g0136 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0154 a0002c0002t0001g0160 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0188 a0002c0002t0001g0196 a0002c0002t0001g0222 a0002c0002t0001g0289 a0002c0004t0001g0100 a0002c0004t0001g0206 a0002c0004t0001g0213 a0002c0004t0001g0248 a0002c0005t0001g0144 a0002c0005t0001g0232 a0003c0013t0001g0197 a0006c0012t0001g0137	22	410	0.0537	12	c.103 others(31): Show c.1031+2053_1031+2064dupCCCTCCCTCCCT	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	10/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278930	C C	CGGAGGGA others(5): Show CGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	410	0.0024	12	c.465 others(27): Show c.465+241_465+242insCTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278962	G G	GGGAGGGC others(5): Show GGGAGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01993.hp2 HG02572.hp2 others(2): Show HG01243.hp1 HG01993.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0241 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0153 a0001c0001t0001g0241 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0360	5	410	0.0122	12	c.465 others(27): Show c.465+209_465+210insGTCCCGCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	288158	C C	CTTTCTTT others(5): Show CTTTCTTTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(75): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01934.hp2 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02698.hp1 HG02896.hp2 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03704.hp2 HG03834.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18992.hp1 NA18993.hp2 NA19000.hp1 NA19011.hp2 NA19030.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0001c0023 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0003t0004 a0001c0010t0001 a0001c0023t0001 a0002c0004t0001 a0002c0007t0001	a0001c0001t0001g0230 a0001c0001t0001g0307 a0001c0001t0001g0312 others(69): Show a0001c0001t0001g0230 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0324 a0001c0001t0001g0332 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0375 a0001c0001t0001g0379 a0001c0001t0001g0382 a0001c0001t0008g0035 a0001c0003t0001g0001 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0124 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0231 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0308 a0001c0003t0001g0310 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0316 a0001c0003t0001g0318 a0001c0003t0001g0319 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0001g0322 a0001c0003t0001g0323 a0001c0003t0001g0325 a0001c0003t0001g0326 a0001c0003t0001g0327 a0001c0003t0001g0328 a0001c0003t0001g0329 a0001c0003t0001g0330 a0001c0003t0001g0331 a0001c0003t0001g0333 a0001c0003t0001g0334 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0339 a0001c0003t0001g0340 a0001c0003t0001g0341 a0001c0003t0001g0342 a0001c0003t0001g0343 a0001c0003t0001g0344 a0001c0003t0001g0345 a0001c0003t0001g0346 a0001c0003t0001g0347 a0001c0003t0001g0348 a0001c0003t0001g0350 a0001c0003t0001g0374 a0001c0003t0001g0376 a0001c0003t0001g0377 a0001c0003t0001g0378 a0001c0003t0001g0380 a0001c0003t0001g0381 a0001c0003t0004g0352 a0001c0010t0001g0311 a0001c0023t0001g0353 a0002c0004t0001g0309 a0002c0007t0001g0115 a0002c0007t0001g0317	78	410	0.1902	12	c.187 others(29): Show c.187+1389_187+1400dupAAGAAAAAGAAA	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	3/10			chr20	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG03710.hp2 HG01517.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0317 a0001c0001t0003g0319	2	378	0.0053	12	c.35 others(23): Show c.3564_*3565insAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C21orf58_chr21_46296130_46328870	46299750	G G	GCCCCCCC others(5): Show GCCCCCCCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02723.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0007g0327 a0001c0001t0001g0005 a0001c0001t0007g0327	2	378	0.0053	12	c.22 others(23): Show c.2248_*2249insGGGTGGGGGGGG	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		1379		chr21	TogoVar
C21orf58_chr21_46296130_46328870	46301721	A A	AAAGGAGG others(5): Show AAAGGAGGGGTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0014 a0003c0006t0014	a0003c0006t0014g0077 a0003c0006t0014g0077	1	378	0.0027	12	c.26 others(21): Show c.266_*277dupGGACCCCTCCTT	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	8/8	277		chr21	TogoVar
C21orf58_chr21_46296130_46328870	46303706	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18986.hp2 HG01346.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0280 a0001c0001t0002g0226 a0001c0001t0002g0280	2	378	0.0053	12	c.722 others(29): Show c.722-1131_722-1130insATATATATATAT	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	6/7			chr21	TogoVar
C21orf58_chr21_46296130_46328870	46303708	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19056.hp1 HG02074.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0283 a0002c0002t0001g0178 a0001c0001t0002g0283 a0002c0002t0001g0178	2	378	0.0053	12	c.722 others(29): Show c.722-1144_722-1133dupATATATATATAT	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	6/7			chr21	TogoVar
C21orf62_chr21_32785673_32818703	32809182	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	303	0.0033	12	c.-14 others(31): Show c.-140+1380_-140+1391dupACACACACACAC	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	2/3			chr21	TogoVar
C21orf62_chr21_32785673_32818703	32809275	C C	CCCTCCCT others(5): Show CCCTCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(30): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG01070.hp1 HG01255.hp2 HG01516.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02523.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03516.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18965.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18988.hp1 NA18991.hp2 NA19011.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0002t0002	a0001c0001t0001g0017 a0001c0001t0001g0066 a0001c0001t0001g0069 others(29): Show a0001c0001t0001g0017 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0232 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0003g0096 a0001c0001t0003g0257 a0001c0001t0004g0161 a0001c0001t0004g0184 a0001c0001t0008g0185 a0001c0001t0022g0255 a0001c0001t0023g0020 a0001c0001t0029g0256 a0001c0002t0002g0254	33	303	0.1089	12	c.-14 others(31): Show c.-140+1298_-140+1299insAAAGGAGGGAGG	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	2/3			chr21	TogoVar
C21orf62_chr21_32785673_32818703	32809279	C C	CCTTCCTT others(5): Show CCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG02895.hp1 others(1): Show HG02630.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0015 a0001c0002t0002g0269 a0001c0002t0002g0271	4	303	0.0132	12	c.-14 others(31): Show c.-140+1294_-140+1295insAAAGAAAGGAAG	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	2/3			chr21	TogoVar
C21orf62_chr21_32785673_32818703	32809279	C C	CCTTTCTT others(5): Show CCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02717.hp2 HG03654.hp1 HG01175.hp2 HG02717.hp2 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0022 a0001c0002t0002g0054 a0001c0002t0009g0057 a0001c0002t0002g0022 a0001c0002t0002g0054 a0001c0002t0009g0057	3	303	0.0099	12	c.-14 others(31): Show c.-140+1283_-140+1294dupAAAGAAAGAAAG	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	2/3			chr21	TogoVar
C21orf91_chr21_17783974_17824356	17789253	T T	TAACACAC others(5): Show TAACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG03471.hp1 NA19240.hp2 HG02809.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0027 a0001c0001t0019g0027	3	414	0.0073	12	c.41 others(23): Show c.4161_*4162insTGTGTGTGTGTT	C21orf91	ENSG00000154642.11	transcript	ENST00000284881.9	protein_coding	5/5	4161		chr21	TogoVar
C22orf23_chr22_37938050_37958601	37951797	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	374	0.0027	12	c.104 others(27): Show c.104-287_104-276dupAAAAAAAAAAAA	C22orf23	ENSG00000128346.11	transcript	ENST00000403305.6	protein_coding	2/6			chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(5): Show ATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA19007.hp1 HG00738.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0002 a0002c0002t0002g0016 a0002c0002t0001g0002 a0002c0002t0002g0016	2	398	0.0050	12	c.16 others(23): Show c.1637_*1638insAATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(5): Show ATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	12	c.16 others(23): Show c.1637_*1638insAAAATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32148240	C C	CATATATA others(5): Show CATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA19085.hp2 NA18998.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0010 a0001c0001t0001g0001 a0002c0002t0001g0010	2	398	0.0050	12	c.12 others(23): Show c.1299_*1300insATATATATATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		765		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41908243	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02602.hp1 HG02976.hp2 others(4): Show HG01981.hp1 HG02602.hp1 HG02976.hp2 HG03516.hp2 HG03654.hp1 HG03834.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0001c0021 others(2): Show a0001c0003 a0001c0006 a0001c0021 a0001c0040 a0002c0010	a0001c0003t0005 a0001c0006t0003 a0001c0021t0005 others(4): Show a0001c0003t0005 a0001c0006t0003 a0001c0021t0005 a0001c0040t0013 a0002c0010t0001 a0002c0010t0008 a0002c0010t0031	a0001c0003t0005g0061 a0001c0006t0003g0341 a0001c0021t0005g0235 others(4): Show a0001c0003t0005g0061 a0001c0006t0003g0341 a0001c0021t0005g0235 a0001c0040t0013g0302 a0002c0010t0001g0129 a0002c0010t0008g0023 a0002c0010t0031g0278	7	396	0.0177	12	c.101 others(29): Show c.1019-471_1019-460dupCACACACACACA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	8/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41948870	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp2 HG01169.hp2 others(12): Show HG00741.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp2 HG03239.hp1 HG03486.hp2 HG03834.hp1 HG03834.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0002c0010 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0004t0009 a0001c0013t0002 a0002c0010t0001 a0004c0016t0004	a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0004g0125 others(12): Show a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0004g0125 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0002t0001g0132 a0001c0002t0002g0128 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0004t0009g0137 a0001c0013t0002g0135 a0002c0010t0001g0129 a0004c0016t0004g0126 a0004c0016t0004g0127	15	396	0.0379	12	c.279 others(29): Show c.279+4488_279+4499dupAAAAAAAAAAAA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74110082	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG03130.hp1 others(1): Show HG01884.hp2 HG02486.hp2 HG03130.hp1 HG03209.hp2	a0011 a0028 a0011 a0028	a0011c0015 a0028c0045 a0011c0015 a0028c0045	a0011c0015t0001 a0028c0045t0001 a0011c0015t0001 a0028c0045t0001	a0011c0015t0001g0001 a0011c0015t0001g0223 a0028c0045t0001g0224 a0011c0015t0001g0001 a0011c0015t0001g0223 a0028c0045t0001g0224	4	318	0.0126	12	c.184 others(29): Show c.1844-942_1844-931dupATTTATTTATTT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	11/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117063	T T	TATATATA others(5): Show TATATATATATGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	318	0.0031	12	c.152 others(31): Show c.1520+1153_1520+1164dupTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117089	T T	TATATATA others(5): Show TATATATATATGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03041.hp1 HG02723.hp2 HG03041.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0004 a0014c0020t0004	a0014c0020t0004g0218 a0014c0020t0004g0219 a0014c0020t0004g0218 a0014c0020t0004g0219	2	318	0.0063	12	c.152 others(31): Show c.1520+1127_1520+1138dupTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117117	T T	TATATATA others(5): Show TATATATATATGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG06807.hp1 HG02922.hp2 HG02976.hp1 HG06807.hp1	a0004 a0030 a0004 a0030	a0004c0004 a0030c0042 a0004c0004 a0030c0042	a0004c0004t0001 a0030c0042t0001 a0004c0004t0001 a0030c0042t0001	a0004c0004t0001g0043 a0004c0004t0001g0044 a0030c0042t0001g0302 a0004c0004t0001g0043 a0004c0004t0001g0044 a0030c0042t0001g0302	3	318	0.0094	12	c.152 others(31): Show c.1520+1099_1520+1110dupTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117145	T T	TATATATA others(5): Show TATATATATATGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0043 a0004c0004t0001g0044	2	318	0.0063	12	c.152 others(31): Show c.1520+1071_1520+1082dupTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117159	T T	TATATATA others(5): Show TATATATATATGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG06807.hp1 HG02615.hp1 HG06807.hp1	a0006 a0030 a0006 a0030	a0006c0012 a0030c0042 a0006c0012 a0030c0042	a0006c0012t0001 a0030c0042t0001 a0006c0012t0001 a0030c0042t0001	a0006c0012t0001g0233 a0030c0042t0001g0302 a0006c0012t0001g0233 a0030c0042t0001g0302	2	318	0.0063	12	c.152 others(31): Show c.1520+1057_1520+1068dupTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117361	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG02809.hp2 others(9): Show HG01109.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp1 NA18979.hp2 NA19074.hp2 NA20905.hp1	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0003 a0004c0004 a0009c0011 a0002c0003 a0004c0004 a0009c0011	a0002c0003t0001 a0004c0004t0001 a0009c0011t0001 a0002c0003t0001 a0004c0004t0001 a0009c0011t0001	a0002c0003t0001g0187 a0002c0003t0001g0206 a0002c0003t0001g0207 others(9): Show a0002c0003t0001g0187 a0002c0003t0001g0206 a0002c0003t0001g0207 a0004c0004t0001g0033 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0042 a0004c0004t0001g0045 a0004c0004t0001g0046 a0004c0004t0001g0183 a0009c0011t0001g0068 a0009c0011t0001g0077	12	318	0.0377	12	c.152 others(29): Show c.1520+855_1520+866dupATATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74130122	G G	GGGGAGAG others(5): Show GGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03041.hp2 HG03195.hp1 others(3): Show HG02145.hp2 HG03041.hp2 HG03195.hp1 HG03540.hp1 NA18522.hp2 NA19240.hp2	a0007 a0032 a0007 a0032	a0007c0009 a0032c0046 a0007c0009 a0032c0046	a0007c0009t0002 a0032c0046t0002 a0007c0009t0002 a0032c0046t0002	a0007c0009t0002g0313 a0007c0009t0002g0314 a0007c0009t0002g0315 others(3): Show a0007c0009t0002g0313 a0007c0009t0002g0314 a0007c0009t0002g0315 a0007c0009t0002g0316 a0007c0009t0002g0317 a0032c0046t0002g0309	6	318	0.0189	12	c.121 others(31): Show c.1217+2710_1217+2721dupTCTCCCTCTCCC	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	7/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74146710	C C	CCACACAC others(5): Show CCACACACACATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp1 others(56): Show HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01081.hp2 HG01123.hp2 HG01516.hp1 HG01517.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02523.hp1 HG02615.hp1 HG02818.hp1 HG03139.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp1 HG04184.hp2 NA18747.hp2 NA18941.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18972.hp1 NA18980.hp2 NA18982.hp2 NA18988.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp1 NA19060.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA20300.hp1	a0003 a0006 a0027 others(1): Show a0003 a0006 a0027 a0029	a0003c0002 a0003c0041 a0006c0012 others(2): Show a0003c0002 a0003c0041 a0006c0012 a0027c0036 a0029c0038	a0003c0002t0001 a0003c0002t0003 a0003c0041t0001 others(3): Show a0003c0002t0001 a0003c0002t0003 a0003c0041t0001 a0006c0012t0001 a0027c0036t0001 a0029c0038t0001	a0003c0002t0001g0241 a0003c0002t0001g0243 a0003c0002t0001g0244 others(56): Show a0003c0002t0001g0241 a0003c0002t0001g0243 a0003c0002t0001g0244 a0003c0002t0001g0245 a0003c0002t0001g0246 a0003c0002t0001g0247 a0003c0002t0001g0248 a0003c0002t0001g0250 a0003c0002t0001g0251 a0003c0002t0001g0252 a0003c0002t0001g0253 a0003c0002t0001g0254 a0003c0002t0001g0255 a0003c0002t0001g0256 a0003c0002t0001g0257 a0003c0002t0001g0258 a0003c0002t0001g0259 a0003c0002t0001g0260 a0003c0002t0001g0261 a0003c0002t0001g0262 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0001g0265 a0003c0002t0001g0266 a0003c0002t0001g0267 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0001g0270 a0003c0002t0001g0271 a0003c0002t0001g0272 a0003c0002t0001g0273 a0003c0002t0001g0274 a0003c0002t0001g0277 a0003c0002t0001g0278 a0003c0002t0001g0279 a0003c0002t0001g0280 a0003c0002t0001g0281 a0003c0002t0001g0282 a0003c0002t0001g0283 a0003c0002t0001g0284 a0003c0002t0001g0285 a0003c0002t0001g0286 a0003c0002t0001g0288 a0003c0002t0001g0289 a0003c0002t0001g0290 a0003c0002t0001g0291 a0003c0002t0001g0292 a0003c0002t0001g0294 a0003c0002t0001g0298 a0003c0002t0001g0299 a0003c0002t0001g0300 a0003c0002t0003g0002 a0003c0002t0003g0003 a0003c0002t0003g0004 a0003c0041t0001g0296 a0006c0012t0001g0233 a0006c0012t0001g0235 a0027c0036t0001g0287 a0029c0038t0001g0293	59	318	0.1855	12	c.484 others(29): Show c.484-6883_484-6882insTATGTGTGTGTG	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74146710	C C	CCCCACAC others(5): Show CCCCACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0015 a0005c0006t0001g0015	1	318	0.0031	12	c.484 others(29): Show c.484-6883_484-6882insTGTGTGTGTGGG	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74146747	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp2 HG02145.hp1 others(21): Show HG00738.hp1 HG01106.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp2 HG06807.hp2 NA18906.hp2 NA18998.hp2 NA19043.hp2 NA19062.hp1 NA19074.hp2 NA19085.hp1	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0015	a0002c0003 a0002c0005 a0005c0006 others(2): Show a0002c0003 a0002c0005 a0005c0006 a0009c0011 a0015c0019	a0002c0003t0001 a0002c0005t0001 a0005c0006t0001 others(2): Show a0002c0003t0001 a0002c0005t0001 a0005c0006t0001 a0009c0011t0001 a0015c0019t0001	a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 others(21): Show a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0005t0001g0049 a0005c0006t0001g0014 a0005c0006t0001g0020 a0005c0006t0001g0023 a0005c0006t0001g0024 a0005c0006t0001g0025 a0005c0006t0001g0026 a0005c0006t0001g0027 a0009c0011t0001g0053 a0009c0011t0001g0066 a0009c0011t0001g0067 a0009c0011t0001g0068 a0015c0019t0001g0022 a0015c0019t0001g0028	24	318	0.0755	12	c.484 others(29): Show c.484-6920_484-6919insATGTGTGTGTGT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74150492	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0286 a0003c0002t0001g0286	1	318	0.0031	12	c.484 others(31): Show c.484-10676_484-10665dupTTTTTTTTTTTT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74151305	C C	CTTTATTT others(5): Show CTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02622.hp1 others(13): Show HG02055.hp1 HG02145.hp2 HG02622.hp1 HG02717.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0003 a0007 a0013 others(5): Show a0003 a0007 a0013 a0025 a0026 a0031 a0032 a0036	a0003c0016 a0003c0034 a0007c0009 others(6): Show a0003c0016 a0003c0034 a0007c0009 a0013c0013 a0025c0040 a0026c0047 a0031c0025 a0032c0046 a0036c0022	a0003c0016t0001 a0003c0034t0001 a0007c0009t0002 others(6): Show a0003c0016t0001 a0003c0034t0001 a0007c0009t0002 a0013c0013t0001 a0025c0040t0001 a0026c0047t0002 a0031c0025t0001 a0032c0046t0002 a0036c0022t0001	a0003c0016t0001g0242 a0003c0016t0001g0249 a0003c0034t0001g0185 others(13): Show a0003c0016t0001g0242 a0003c0016t0001g0249 a0003c0034t0001g0185 a0007c0009t0002g0310 a0007c0009t0002g0312 a0007c0009t0002g0313 a0007c0009t0002g0314 a0007c0009t0002g0315 a0013c0013t0001g0225 a0013c0013t0001g0226 a0013c0013t0001g0227 a0025c0040t0001g0301 a0026c0047t0002g0311 a0031c0025t0001g0222 a0032c0046t0002g0309 a0036c0022t0001g0295	16	318	0.0503	12	c.483 others(31): Show c.483+10082_483+10093dupTAAATAAATAAA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74151319	T T	TTATTTAT others(5): Show TTATTTATTTATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04228.hp2 HG06807.hp1 others(4): Show HG02280.hp2 HG04228.hp2 HG06807.hp1 NA18943.hp2 NA18984.hp2 NA18999.hp2 NA19003.hp2	a0010 a0030 a0010 a0030	a0010c0010 a0030c0042 a0010c0010 a0030c0042	a0010c0010t0001 a0030c0042t0001 a0010c0010t0001 a0030c0042t0001	a0010c0010t0001g0303 a0010c0010t0001g0304 a0010c0010t0001g0305 others(4): Show a0010c0010t0001g0303 a0010c0010t0001g0304 a0010c0010t0001g0305 a0010c0010t0001g0306 a0010c0010t0001g0307 a0010c0010t0001g0308 a0030c0042t0001g0302	7	318	0.0220	12	c.483 others(31): Show c.483+10079_483+10080insCATAAATAAATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	410871	C C	CGAGCCGG others(5): Show CGAGCCGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01167.hp2 HG01361.hp2 others(1): Show HG00733.hp1 HG01167.hp2 HG01361.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0001 a0001c0001t0034g0030 a0001c0001t0001g0001 a0001c0001t0034g0030	4	322	0.0124	12	c.-19 others(23): Show c.-1907_-1906insTCCTCCCGGCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1725		chr19	TogoVar

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