Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
COQ3_chr6_99364401_99399195	99378105	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0075 a0003c0003t0003g0075	1	271	0.0037	-32	c.387 others(47): Show c.387-652_387-621delATATATATATATATATATATATATATATAT AT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99378131	TATATATA others(25): Show TATATATATATATATATATATATATATTTAGAG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	432	0.0023	-32	c.387 others(47): Show c.387-678_387-647delCTCTAAATATATATATATATATATATATAT AT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ8A_chr1_226935294_226992544	226944718	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00673.hp1 others(58): Show HG00423.hp1 HG00438.hp1 HG00673.hp1 HG00738.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02135.hp2 HG02273.hp1 HG02280.hp2 HG02523.hp2 HG02630.hp2 HG02738.hp2 HG02886.hp2 HG03139.hp2 HG03540.hp1 HG03579.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0003 a0001c0011t0004	a0001c0001t0001g0003 a0001c0001t0001g0103 a0001c0001t0001g0157 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0103 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0059 a0001c0001t0002g0180 a0001c0001t0002g0225 a0001c0001t0002g0234 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0057 a0001c0001t0004g0073 a0001c0001t0004g0082 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0168 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0006g0033 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0002t0003g0081 a0001c0002t0003g0155 a0001c0002t0003g0164 a0001c0002t0003g0171 a0001c0011t0004g0178	61	410	0.1488	-32	c.-10 others(49): Show c.-10+4333_-10+4364delAGAGAGAGAGAGAGAGAGTGAGAGAGAG AGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226955986	ACTCCCTG others(25): Show ACTCCCTGGTTCACACTCTCCCTGGCTCCCACT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	410	0.0024	-32	c.-9- others(47): Show c.-9-5363_-9-5332delCCACTCTCCCTGGTTCACACTCTCCCTGGC TC	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COX19_chr7_959852_980549	964001	CGCTGAGG others(25): Show CGCTGAGGCGGGAAACGGTTCCCCCCAGAGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01934.hp2 others(49): Show HG00408.hp2 HG01106.hp2 HG01934.hp2 HG02027.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02300.hp2 HG03927.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18971.hp1 NA18972.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0001t0031 a0001c0001t0042 a0001c0001t0043	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0029 others(16): Show a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0029 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0022g0057 a0001c0001t0022g0168 a0001c0001t0031g0166 a0001c0001t0031g0169 a0001c0001t0042g0062 a0001c0001t0043g0167	52	416	0.1250	-32	c.53 others(43): Show c.5345_*5376delAGGCTCTGGGGGGAACCGTTTCCCGCCTCAGC	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		850		chr7	TogoVar
COX7B2_chr4_46729827_46914245	46905400	AAACCGGA others(25): Show AAACCGGAACTGAATGTCATCTAGAGGAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	298	0.0034	-32	c.-10 others(51): Show c.-105+3728_-105+3759delCTTCTTCCTCTAGATGACATTCAGTT CCGGTT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
CPA1_chr7_130375494_130393108	130386477	AGCCAAGA others(25): Show AGCCAAGAGCACGCCACTGTACTCCAGCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0037 a0001c0005t0001g0037	1	432	0.0023	-32	c.107 others(49): Show c.1072+555_1072+586delGCCAAGAGCACGCCACTGTACTCCAGCC TGGG	CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding	9/9			chr7	TogoVar
CPB1_chr3_148822811_148865187	148846797	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp1 HG02055.hp2 others(9): Show HG01255.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02723.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0093 others(9): Show a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0383 a0001c0001t0001g0397 a0001c0011t0001g0396	12	207	0.0580	-32	c.981 others(49): Show c.981+1185_981+1216delATATATATATATATATATATATATATAT ATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPD_chr17_30373927_30474989	30381097	TTGATAAG others(25): Show TTGATAAGCTCTCTTGTAGATATATAATTTCAC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	294	0.0034	-32	c.746 others(49): Show c.746+1372_746+1403delTGATAAGCTCTCTTGTAGATATATAATT TCAC	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding	1/20			chr17	TogoVar
CPED1_chr7_120983711_121302442	121098735	TATATATA others(25): Show TATATATATAAAAATATATAAAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	138	0.0072	-32	c.749 others(47): Show c.749+914_749+945delAAAATATATAAAAATATATATAAATATATA TA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLANE1_chr5_37101235_37254376	37245297	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02258.hp2 HG02922.hp2 others(1): Show HG01346.hp2 HG02258.hp2 HG02922.hp2 NA19006.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0001c0001t0006 a0007c0007t0003 a0001c0001t0001 a0001c0001t0006 a0007c0007t0003	a0001c0001t0001g0082 a0001c0001t0006g0006 a0001c0001t0006g0007 others(1): Show a0001c0001t0001g0082 a0001c0001t0006g0006 a0001c0001t0006g0007 a0007c0007t0003g0042	4	11	0.3636	-32	c.337 others(47): Show c.337+150_337+181delTATATATATATATATATATATATATATATA TA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	4/52			chr5	TogoVar
CPM_chr12_68846175_68938171	68923158	AGAGTGTG others(25): Show AGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01346.hp2 others(1): Show HG01106.hp2 HG01109.hp1 HG01346.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0009 a0001c0001t0001 a0001c0007t0009	a0001c0001t0001g0076 a0001c0007t0009g0077 a0001c0007t0009g0078 others(1): Show a0001c0001t0001g0076 a0001c0007t0009g0077 a0001c0007t0009g0078 a0001c0007t0009g0079	4	132	0.0303	-32	c.160 others(49): Show c.160+9488_160+9519delACACACACACACACACACACACACACAC ACTC	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	2/8			chr12	TogoVar
CPNE4_chr3_131528569_132040014	131942455	TGTGTGTG others(25): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG03516.hp1 HG02257.hp2 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0004 a0001c0004t0001 a0001c0006t0004	a0001c0004t0001g0035 a0001c0004t0001g0055 a0001c0006t0004g0036 a0001c0004t0001g0035 a0001c0004t0001g0055 a0001c0006t0004g0036	3	91	0.0330	-32	c.-1- others(49): Show c.-1-37043_-1-37012delTCTCTCTCTCTCTCTCTCTCTCTCACAC ACAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978058	AATATATA others(25): Show AATATATATAAATATATATAAATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01081.hp2 others(14): Show HG00738.hp2 HG01071.hp2 HG01081.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0028 others(14): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0057 a0001c0001t0002g0085 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0005g0073 a0001c0001t0005g0084 a0001c0001t0007g0002 a0001c0001t0009g0067 a0001c0002t0001g0025 a0001c0002t0003g0063 a0001c0002t0009g0068 a0001c0003t0001g0019	17	89	0.1910	-32	c.-2+ others(49): Show c.-2+56477_-2+56508delATTTATATATATTTATATATATTTATAT ATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005332	TATATATA others(25): Show TATATATATATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	91	0.0110	-32	c.-2+ others(49): Show c.-2+29203_-2+29234delGTGTGTGTGTGTGTGTGTGTGTATATAT ATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005334	TATATATA others(25): Show TATATATATACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG03225.hp1 others(2): Show HG02451.hp1 HG02922.hp2 HG03225.hp1 HG04199.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0003t0010 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0010 a0001c0004t0010	a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0005g0084 others(2): Show a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0005g0084 a0001c0003t0010g0087 a0001c0004t0010g0086	5	92	0.0543	-32	c.-2+ others(49): Show c.-2+29201_-2+29232delGTGTGTGTGTGTGTGTGTGTGTGTATAT ATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36788623	AGTATTAC others(25): Show AGTATTACAGGCAGTAACAATCGTTTTACTGCT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01515.hp1 HG02486.hp1 HG01175.hp1 HG01515.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0002 a0001c0003t0006	a0001c0003t0002g0091 a0001c0003t0002g0346 a0001c0003t0006g0155 a0001c0003t0002g0091 a0001c0003t0002g0346 a0001c0003t0006g0155	3	332	0.0090	-32	c.528 others(49): Show c.528+3378_528+3409delAGCAGTAAAACGATTGTTACTGCCTGTA ATAC	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	8/20			chr6	TogoVar
CPQ_chr8_96640242_97148501	96777744	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02723.hp2 HG02257.hp2 HG02280.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0002g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0002g0004	3	87	0.0345	-32	c.-34 others(49): Show c.-34-7118_-34-7087delATATATATATATATATTTTTTTTTTTTT TTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96880518	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01516.hp1 HG01517.hp2 others(25): Show HG01261.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02040.hp1 HG02273.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 NA18945.hp1 NA18949.hp2 NA18979.hp1 NA18990.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19084.hp2 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0004c0006t0001	a0001c0001t0001g0017 a0001c0002t0001g0002 a0001c0002t0001g0003 others(25): Show a0001c0001t0001g0017 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0050 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0119 a0001c0002t0002g0051 a0001c0002t0002g0054 a0001c0002t0002g0082 a0001c0002t0002g0085 a0001c0002t0003g0001 a0004c0006t0001g0075 a0004c0006t0001g0076	28	35	0.8000	-32	c.849 others(47): Show c.849+541_849+572delTATATATATATATATATATATATATATATA TA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPTP_chr1_1319802_1333896	1324139	GGGGGCTG others(25): Show GGGGGCTGGGGGGCTGAGGGGCTGGGGGGCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02280.hp1 HG02451.hp1 others(6): Show HG01975.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG02809.hp2 HG03209.hp2 HG03516.hp2 NA18944.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0001c0001t0021 a0003c0004t0006 a0001c0001t0006 a0001c0001t0021 a0003c0004t0006	a0001c0001t0006g0001 a0001c0001t0021g0001 a0003c0004t0006g0001 a0001c0001t0006g0001 a0001c0001t0021g0001 a0003c0004t0006g0001	9	376	0.0239	-32	c.-10 others(43): Show c.-1038_-1007delGGGGCTGGGGGGCTGAGGGGCTGGGGGGCTGA	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		662		chr1	TogoVar
CPVL_chr7_28990235_29151537	29069770	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	20	0.0500	-32	c.864 others(49): Show c.864+1971_864+2002delCACACACACACACACACACACACACACA CACA	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	9/12			chr7	TogoVar
CR1_chr1_207491157_207646765	207617592	TATATATA others(25): Show TATATATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0113 a0002c0002t0001g0114	2	343	0.0058	-32	c.689 others(49): Show c.6890-477_6890-446delTATATATATATATATATATAGAGAGAGA GAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617594	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	330	0.0030	-32	c.689 others(49): Show c.6890-475_6890-444delTATATATATATATATATAGAGAGAGAGA GAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617596	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02738.hp1 HG02723.hp1 HG02738.hp1	a0002 a0023 a0002 a0023	a0002c0002 a0023c0046 a0002c0002 a0023c0046	a0002c0002t0001 a0023c0046t0002 a0002c0002t0001 a0023c0046t0002	a0002c0002t0001g0256 a0023c0046t0002g0037 a0002c0002t0001g0256 a0023c0046t0002g0037	2	330	0.0061	-32	c.689 others(49): Show c.6890-473_6890-442delTATATATATATATATAGAGAGAGAGAGA GAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617600	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0331 a0004c0004t0002g0331	1	316	0.0032	-32	c.689 others(49): Show c.6890-469_6890-438delTATATATATATAGAGAGAGAGAGAGAGA GAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617602	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01433.hp2 HG02300.hp2 others(5): Show HG01081.hp2 HG01433.hp2 HG02300.hp2 HG02615.hp1 HG02735.hp2 NA18994.hp1 NA18999.hp2 NA19240.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0001 a0004c0004t0002 a0005c0006t0001 a0004c0004t0001 a0004c0004t0002 a0005c0006t0001	a0004c0004t0001g0292 a0004c0004t0001g0323 a0004c0004t0002g0321 others(5): Show a0004c0004t0001g0292 a0004c0004t0001g0323 a0004c0004t0002g0321 a0004c0004t0002g0328 a0004c0004t0002g0349 a0004c0004t0002g0351 a0005c0006t0001g0156 a0005c0006t0001g0187	8	320	0.0250	-32	c.689 others(49): Show c.6890-467_6890-436delTATATATATAGAGAGAGAGAGAGAGAGA GAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617604	TATATATA others(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01167.hp1 others(4): Show HG00099.hp2 HG00280.hp2 HG01167.hp1 HG01167.hp2 HG02257.hp1 HG03654.hp2 HG06807.hp2	a0004 a0005 a0028 a0004 a0005 a0028	a0004c0004 a0004c0009 a0004c0015 others(2): Show a0004c0004 a0004c0009 a0004c0015 a0005c0006 a0028c0054	a0004c0004t0002 a0004c0009t0002 a0004c0015t0002 others(2): Show a0004c0004t0002 a0004c0009t0002 a0004c0015t0002 a0005c0006t0001 a0028c0054t0002	a0004c0004t0002g0324 a0004c0004t0002g0326 a0004c0004t0002g0352 others(4): Show a0004c0004t0002g0324 a0004c0004t0002g0326 a0004c0004t0002g0352 a0004c0009t0002g0094 a0004c0015t0002g0190 a0005c0006t0001g0030 a0028c0054t0002g0141	7	330	0.0212	-32	c.689 others(49): Show c.6890-465_6890-434delTATATATAGAGAGAGAGAGAGAGAGAGA GAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617606	TATATATA others(25): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01261.hp1 HG01346.hp2 others(7): Show HG00408.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp1 HG02809.hp2 HG02970.hp2 HG03195.hp1 HG03239.hp1 NA19010.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0002 a0005c0006t0001 a0005c0006t0002 a0004c0004t0002 a0005c0006t0001 a0005c0006t0002	a0004c0004t0002g0313 a0004c0004t0002g0315 a0004c0004t0002g0325 others(7): Show a0004c0004t0002g0313 a0004c0004t0002g0315 a0004c0004t0002g0325 a0004c0004t0002g0329 a0004c0004t0002g0330 a0004c0004t0002g0332 a0005c0006t0001g0108 a0005c0006t0001g0154 a0005c0006t0001g0155 a0005c0006t0002g0082	10	342	0.0292	-32	c.689 others(49): Show c.6890-463_6890-432delTATATAGAGAGAGAGAGAGAGAGAGAGA GAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617608	TATATAGA others(25): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG03831.hp2 others(1): Show HG02451.hp1 HG02922.hp2 HG03831.hp2 NA20300.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0002 a0005c0006t0001 a0004c0004t0002 a0005c0006t0001	a0004c0004t0002g0312 a0005c0006t0001g0157 a0005c0006t0001g0158 others(1): Show a0004c0004t0002g0312 a0005c0006t0001g0157 a0005c0006t0001g0158 a0005c0006t0001g0186	4	343	0.0117	-32	c.689 others(49): Show c.6890-461_6890-430delTATAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207623587	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0081 a0004c0004t0001g0081	1	13	0.0769	-32	c.735 others(49): Show c.7352+539_7352+570delCACACACACACACACACACACACACACA CACA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	45/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98889285	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02015.hp2 HG02280.hp1 others(10): Show HG01167.hp1 HG02015.hp2 HG02280.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG03130.hp1 NA18522.hp2 NA18947.hp1 NA19043.hp2 NA19066.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0001g0039 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0125 a0001c0001t0003g0186 a0001c0001t0003g0187	13	65	0.2000	-32	c.-10 others(51): Show c.-10-42507_-10-42476delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRAMP1_chr16_1607360_1682908	1651796	AGAGGTCA others(25): Show AGAGGTCACACAGAGGTCACAGAAAGGTGGATT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	330	0.0030	-32	c.828 others(47): Show c.828-669_828-638delTTGAGGTCACACAGAGGTCACAGAAAGGTG GA	CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRB2_chr9_123351197_123383753	123372792	GGGCAAGC others(25): Show GGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0123 a0005c0008t0001g0123	1	430	0.0023	-32	c.260 others(49): Show c.2603-341_2603-310delGGCAAGCCTCGGCCATGAGGTGGGGCAG CTTC	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	9/12			chr9	TogoVar
CREB3L2_chr7_137869979_138007086	137922406	ATATATAT others(25): Show ATATATATATGTATATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp2 NA18995.hp1 HG02809.hp2 HG03486.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0018 a0001c0001t0001 a0002c0002t0018	a0001c0001t0001g0269 a0002c0002t0018g0033 a0002c0002t0018g0045 a0001c0001t0001g0269 a0002c0002t0018g0033 a0002c0002t0018g0045	3	286	0.0105	-32	c.319 others(49): Show c.319+5712_319+5743delCGTATATATATATATATATATACATATA TATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB5_chr7_28407518_28830894	28642955	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02055.hp2 HG02135.hp2 others(4): Show HG01361.hp1 HG02055.hp2 HG02135.hp2 HG03579.hp1 HG06807.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022	a0001c0001t0002g0113 a0001c0001t0005g0172 a0001c0001t0006g0035 others(4): Show a0001c0001t0002g0113 a0001c0001t0005g0172 a0001c0001t0006g0035 a0001c0001t0008g0117 a0001c0001t0011g0133 a0001c0001t0013g0070 a0001c0001t0022g0066	7	196	0.0357	-32	c.464 others(51): Show c.464+72450_464+72481delTACACACACACACACACACACACACA CACACA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRISP2_chr6_49687359_49718543	49701616	ATATATAC others(25): Show ATATATACATTATATATGTATACATTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02976.hp1 others(4): Show HG02622.hp1 HG02630.hp2 HG02976.hp1 HG03209.hp2 HG03471.hp2 NA19010.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0058 a0001c0001t0002g0060 others(3): Show a0001c0001t0002g0035 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0073	7	395	0.0177	-32	c.67- others(45): Show c.67-864_67-833delCATATATAATGTATACATATATAATGTATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRNN_chr1_152404243_152419263	152418257	GCATACAC others(25): Show GCATACACACACTCGCGCGCACGCGCGCGCGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(159): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0011 a0001c0015 others(2): Show a0001c0001 a0001c0011 a0001c0015 a0003c0003 a0006c0008	a0001c0001t0001 a0001c0011t0001 a0001c0015t0001 others(2): Show a0001c0001t0001 a0001c0011t0001 a0001c0015t0001 a0003c0003t0003 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0011t0001g0032 a0001c0015t0001g0033 a0003c0003t0003g0004 a0006c0008t0001g0016	162	384	0.4219	-32	c.-40 others(43): Show c.-4089_-4058delTGCGCGCGCGCGTGCGCGCGAGTGTGTGTATG	CRNN	ENSG00000143536.7	transcript	ENST00000271835.3	protein_coding		3995		chr1	TogoVar
CROCC2_chr2_240901336_240998311	240997118	CAGGCTCT others(25): Show CAGGCTCTCACCGAGAGCCGGCCTCAAGTAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0086 a0003c0086	a0003c0086t0001 a0003c0086t0001	a0003c0086t0001g0089 a0003c0086t0001g0089	1	348	0.0029	-32	c.40 others(43): Show c.4038_*4069delAGGCTCTCACCGAGAGCCGGCCTCAAGTAGGG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding		3808		chr2	TogoVar
CRTAC1_chr10_97860000_98035621	97894711	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02647.hp2 others(3): Show HG02258.hp2 HG02572.hp1 HG02647.hp2 HG03453.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0003t0001g0045 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0003t0001g0045 a0001c0003t0001g0094 a0001c0003t0002g0147 a0001c0003t0003g0044	6	36	0.1667	-32	c.148 others(49): Show c.1486+502_1486+533delATATATATATATATATATATATATATAT ATAT	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	11/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900516	CCTTTTCC others(25): Show CCTTTTCCTGGTAGTGATTGGACCCCATAGCCT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0156 a0001c0010t0001g0156	1	202	0.0050	-32	c.113 others(49): Show c.1133+955_1133+986delAGGCTATGGGGTCCAATCACTACCAGGA AAAG	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900619	CTGGTAGT others(25): Show CTGGTAGTGATTGGAGCCCGTAGCCCCTTTCTG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	202	0.0050	-32	c.113 others(49): Show c.1133+852_1133+883delCAGAAAGGGGCTACGGGCTCCAATCACT ACCA	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900893	CGTAGCCC others(25): Show CGTAGCCCCTTTCTGTGGTAGTGATTGGACCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 NA18522.hp1 others(1): Show HG02258.hp2 HG02572.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003	a0001c0003t0001g0045 a0001c0003t0001g0094 a0001c0003t0002g0147 others(1): Show a0001c0003t0001g0045 a0001c0003t0001g0094 a0001c0003t0002g0147 a0001c0003t0003g0044	4	202	0.0198	-32	c.113 others(49): Show c.1133+578_1133+609delAGGGTCCAATCACTACCACAGAAAGGGG CTAC	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900957	CGTAGCCC others(25): Show CGTAGCCCCTTTTCCTGGTAGTGATTGGACCCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	202	0.0050	-32	c.113 others(49): Show c.1133+514_1133+545delAGGGTCCAATCACTACCAGGAAAAGGGG CTAC	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900986	CCCTGTAG others(25): Show CCCTGTAGCCCCTTTTCCTGGTAGTGATTGGAG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp2 HG02895.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0001 a0001c0010t0001 a0001c0004t0001 a0001c0010t0001	a0001c0004t0001g0002 a0001c0010t0001g0156 a0001c0004t0001g0002 a0001c0010t0001g0156	2	194	0.0103	-32	c.113 others(49): Show c.1133+485_1133+516delCTCCAATCACTACCAGGAAAAGGGGCTA CAGG	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAM_chr11_122833500_122877643	122861400	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp2 HG01081.hp2 others(18): Show HG00621.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG02055.hp1 HG02602.hp2 HG02683.hp2 HG02809.hp1 HG02965.hp2 HG03041.hp1 HG03486.hp2 HG03491.hp2 HG03688.hp1 HG04199.hp2 NA18998.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0002c0004t0001 a0005c0006t0004	a0001c0001t0001g0255 a0002c0002t0001g0057 a0002c0002t0001g0319 others(16): Show a0001c0001t0001g0255 a0002c0002t0001g0057 a0002c0002t0001g0319 a0002c0002t0006g0017 a0002c0002t0006g0064 a0002c0002t0006g0086 a0002c0002t0006g0170 a0002c0002t0006g0171 a0002c0002t0006g0172 a0002c0002t0006g0173 a0002c0002t0006g0174 a0002c0002t0006g0175 a0002c0002t0006g0176 a0002c0002t0006g0177 a0002c0002t0006g0199 a0002c0002t0006g0288 a0002c0002t0006g0323 a0002c0004t0001g0066 a0005c0006t0004g0200	21	420	0.0500	-32	c.653 others(49): Show c.653-1062_653-1031delATATATATATATATATATATTTTTTTTT TTTT	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CRTC3_chr15_90524923_90650345	90564904	ACCTTCCT others(25): Show ACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	21	0.0476	-32	c.231 others(51): Show c.231+24792_231+24823delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647667	CCTCCTCA others(25): Show CCTCCTCACCCCTCCTCCTCCACACCCCTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0136 a0002c0002t0011g0136	1	274	0.0036	-32	c.55 others(43): Show c.5528_*5559delCTCCTCACCCCTCCTCCTCCACACCCCTCCTT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2323		chr15	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	303	0.0033	-32	c.301 others(47): Show c.301-892_301-861delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218111	TAGCCGGG others(25): Show TAGCCGGGCGTGTTGGCGGGCGCCTGTAGTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG03453.hp1 HG03471.hp2 others(3): Show HG02015.hp2 HG03453.hp1 HG03471.hp2 HG03927.hp1 NA19010.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 others(3): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0073	6	462	0.0130	-32	c.-15 others(43): Show c.-1581_-1550delAGCCGGGCGTGTTGGCGGGCGCCTGTAGTCCC	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		1527		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218763	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	447	0.0022	-32	c.-92 others(41): Show c.-929_-898delAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		875		chr22	TogoVar

Search by Variant

Search

Search Results