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
CHODL_chr21_18239833_18272370	18248687	TTATATAC others(16): Show TTATATACATATATATGTATATAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	377	0.0027	-23	c.79+ others(38): Show c.79+3415_79+3437delCATATATATGTATATAATATATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRM2_chr7_136863652_137025213	136867631	AGAGATAT others(16): Show AGAGATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0122 a0001c0001t0047g0122	1	318	0.0031	-23	c.-16 others(34): Show c.-1643_-1621delGAGATATATATATATATATTTTT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		1020		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136913570	TACCTAAT others(16): Show TACCTAATCACCAAAATAACCAAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	318	0.0031	-23	c.-12 others(44): Show c.-125+44181_-125+44203delATCACCAAAATAACCAAAACCTA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136930898	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp1 HG02886.hp1 others(8): Show HG00639.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03486.hp2 NA18522.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0033 a0001c0001t0074 a0004c0009t0028	a0001c0001t0001g0312 a0001c0001t0004g0257 a0001c0001t0005g0042 others(7): Show a0001c0001t0001g0312 a0001c0001t0004g0257 a0001c0001t0005g0042 a0001c0001t0011g0002 a0001c0001t0011g0209 a0001c0001t0011g0210 a0001c0001t0011g0211 a0001c0001t0033g0103 a0001c0001t0074g0098 a0004c0009t0028g0303	11	132	0.0833	-23	c.-12 others(44): Show c.-124-61282_-124-61260delAAAAAAAAAAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239402989	AATTTACG others(16): Show AATTTACGGATGTGGAACCCACAG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	114	0.0088	-23	c.-52 others(44): Show c.-521+15765_-521+15787delTTACGGATGTGGAACCCACAGAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA10_chr11_3660587_3676384	3663053	CTCATCTC others(16): Show CTCATCTCATCTCATCTCATCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	448	0.0022	-23	c.30 others(34): Show c.3031_*3053delTGAGATGAGATGAGATGAGATGA	CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding		2533		chr11	TogoVar
CHRNB4_chr15_78619111_78646210	78632228	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0023 a0001c0001t0010g0023	1	414	0.0024	-23	c.205 others(38): Show c.205-919_205-897delGAGAGAGAGAGAGAGAGAGAGAG	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CHST8_chr19_33616953_33778506	33757383	AAAAGAAG others(16): Show AAAAGAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03041.hp2 HG02040.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0251 a0001c0001t0001g0147 a0001c0001t0001g0251	2	227	0.0088	-23	c.131 others(42): Show c.131-14023_131-14001delGAAAGAAAGAAAGAAAGAAAGAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY3_chr5_129899465_130191634	129958503	TTTTTGTA others(16): Show TTTTTGTAACTTTTGTACAAAAGA	T T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	276	0.0036	-23	c.108 others(44): Show c.1086+50162_1086+50184delAAAGATTTTGTAACTTTTGTACA	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020441	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG03130.hp2 others(2): Show HG02257.hp1 HG02258.hp2 HG03130.hp2 HG03209.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0017 a0002c0003t0005 a0002c0007t0009 a0001c0001t0017 a0002c0003t0005 a0002c0007t0009	a0001c0001t0017g0123 a0002c0003t0005g0125 a0002c0003t0005g0127 others(2): Show a0001c0001t0017g0123 a0002c0003t0005g0125 a0002c0003t0005g0127 a0002c0003t0005g0128 a0002c0007t0009g0124	5	275	0.0182	-23	c.108 others(46): Show c.1086+112083_1086+112105delATATATATATATATATATATTT T	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020443	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0126 a0002c0003t0005g0126	1	276	0.0036	-23	c.108 others(46): Show c.1086+112085_1086+112107delATATATATATATATATATTTTT T	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIPC_chr14_77093258_77122287	77094983	CAGGGTCC others(16): Show CAGGGTCCTTACCCCATCCATCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01884.hp2 HG02074.hp1 others(27): Show HG00544.hp1 HG01884.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02258.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03017.hp2 HG03491.hp2 HG03540.hp2 HG03654.hp1 HG04204.hp1 NA18942.hp1 NA18943.hp1 NA18965.hp2 NA18970.hp2 NA18972.hp1 NA18984.hp1 NA18988.hp1 NA18998.hp1 NA19001.hp2 NA19007.hp1 NA19062.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 others(1): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0002c0003t0032	a0001c0001t0004g0005 a0001c0001t0004g0013 a0001c0001t0004g0103 others(5): Show a0001c0001t0004g0005 a0001c0001t0004g0013 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0009g0010 a0001c0001t0016g0005 a0002c0003t0032g0073	30	424	0.0708	-23	c.-34 others(34): Show c.-3430_-3408delAGGGTCCTTACCCCATCCATCAT	CIPC	ENSG00000198894.8	transcript	ENST00000361786.7	protein_coding		3274		chr14	TogoVar
CISH_chr3_50601489_50616774	50602062	ACACACAC others(16): Show ACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-23	c.55 others(34): Show c.5522_*5544delGTGTGTGTGTGTGTGTGTGTGTG	CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding		4426		chr3	TogoVar
CIT_chr12_119680791_119882320	119737306	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG01934.hp2 others(14): Show HG00597.hp1 HG00733.hp1 HG01934.hp2 HG02630.hp1 HG02809.hp2 HG03453.hp1 HG03486.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18982.hp2 NA18991.hp2 NA18997.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19066.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0006 a0001c0009 others(2): Show a0001c0001 a0001c0006 a0001c0009 a0003c0033 a0009c0032	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0012 a0001c0006t0024 a0001c0006t0027 a0001c0009t0009 a0003c0033t0006 a0009c0032t0001	a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0002g0095 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0002g0095 a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 a0001c0006t0012g0115 a0001c0006t0012g0128 a0001c0006t0012g0141 a0001c0006t0012g0158 a0001c0006t0024g0112 a0001c0006t0027g0234 a0001c0009t0009g0036 a0001c0009t0009g0039 a0001c0009t0009g0043 a0003c0033t0006g0176 a0009c0032t0001g0028	17	39	0.4359	-23	c.295 others(42): Show c.2959-1972_2959-1950delTTTTTTTTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	24/47			chr12	TogoVar
CKMT1A_chr15_43688859_43704222	43691018	AAAAAGAA others(16): Show AAAAAGAACCCAAAAAAACCCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	-23	c.-30 others(34): Show c.-3032_-3010delAAAAGAACCCAAAAAAACCCCCC	CKMT1A	ENSG00000223572.10	transcript	ENST00000413453.7	protein_coding		2840		chr15	TogoVar
CLASP1_chr2_121332776_121654462	121557335	CAGCACTT others(16): Show CAGCACTTTGAGAGGCTGAGGCGG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0167 a0001c0002t0052g0167	1	212	0.0047	-23	c.196 others(42): Show c.196-27033_196-27011delCCGCCTCAGCCTCTCAAAGTGCT	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	2/40			chr2	TogoVar
CLEC16A_chr16_10939564_11187186	11186533	TCTGCAGT others(16): Show TCTGCAGTGAGCCGAGATTGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03516.hp1 HG02886.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0025 a0001c0002t0001 a0001c0002t0025	a0001c0002t0001g0053 a0001c0002t0025g0084 a0001c0002t0001g0053 a0001c0002t0025g0084	2	272	0.0074	-23	c.78 others(34): Show c.7844_*7866delCTGCAGTGAGCCGAGATTGGCCA	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding		4348		chr16	TogoVar
CLEC20A_chr1_178474240_178501964	178499487	CAGGCAGA others(16): Show CAGGCAGAAGAACACGGAAAAACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01192.hp2 others(33): Show HG01070.hp2 HG01071.hp1 HG01192.hp2 HG01243.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0016 a0002c0002 others(1): Show a0001c0001 a0001c0016 a0002c0002 a0011c0011	a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 a0011c0011t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0022 others(20): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0106 a0001c0016t0001g0064 a0002c0002t0001g0005 a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0040 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0131 a0011c0011t0001g0104	36	312	0.1154	-23	c.-25 others(34): Show c.-2571_-2549delAGTTTTTCCGTGTTCTTCTGCCT	CLEC20A	ENSG00000188585.10	transcript	ENST00000623247.3	protein_coding		2524		chr1	TogoVar
CLEC2D_chr12_9664713_9704553	9667964	AGATTAGT others(16): Show AGATTAGTGTGGAAATTCCAAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02280.hp1 others(5): Show HG01884.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG03130.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0004 a0001c0001 a0003c0003 a0003c0004	a0001c0001t0009 a0001c0001t0014 a0003c0003t0058 others(1): Show a0001c0001t0009 a0001c0001t0014 a0003c0003t0058 a0003c0004t0009	a0001c0001t0009g0114 a0001c0001t0014g0113 a0003c0003t0058g0034 others(4): Show a0001c0001t0009g0114 a0001c0001t0014g0113 a0003c0003t0058g0034 a0003c0004t0009g0028 a0003c0004t0009g0110 a0003c0004t0009g0111 a0003c0004t0009g0112	8	386	0.0207	-23	c.-17 others(34): Show c.-1770_-1748delGATTAGTGTGGAAATTCCAAGAT	CLEC2D	ENSG00000069493.15	transcript	ENST00000290855.11	protein_coding		1748		chr12	TogoVar
CLEC4F_chr2_70803643_70825599	70813488	CTTTCTTT others(16): Show CTTTCTTTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0023 a0005c0005t0001g0023	1	410	0.0024	-23	c.138 others(40): Show c.1388-913_1388-891delAGAAAGAAAGAAAGAAAAAGAAA	CLEC4F	ENSG00000152672.8	transcript	ENST00000272367.7	protein_coding	4/6			chr2	TogoVar
CLHC1_chr2_55167547_55237293	55217545	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0155 a0002c0001t0012g0155	1	397	0.0025	-23	c.365 others(38): Show c.365+243_365+265delATATATATATATATATTTTTTTT	CLHC1	ENSG00000162994.16	transcript	ENST00000401408.6	protein_coding	4/12			chr2	TogoVar
CLHC1_chr2_55167547_55237293	55217547	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0317 a0001c0004t0020g0317	1	372	0.0027	-23	c.365 others(38): Show c.365+241_365+263delATATATATATATATATATTTTTT	CLHC1	ENSG00000162994.16	transcript	ENST00000401408.6	protein_coding	4/12			chr2	TogoVar
CLIC4_chr1_24740447_24849321	24766473	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	2	0.5000	-23	c.72+ others(40): Show c.72+20874_72+20896delTTTTTTTTTTTTTTTTTTTTTTT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIP1_chr12_122266469_122427669	122387568	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01993.hp2 HG02486.hp2 HG00099.hp2 HG01993.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0001 a0002c0014t0001 a0002c0002t0001 a0002c0014t0001	a0002c0002t0001g0119 a0002c0002t0001g0151 a0002c0014t0001g0106 a0002c0002t0001g0119 a0002c0002t0001g0151 a0002c0014t0001g0106	3	211	0.0142	-23	c.-10 others(42): Show c.-106-7033_-106-7011delATATATATATATATATATATATA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122387570	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03942.hp2 HG03041.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0017 a0002c0002t0002g0145 a0001c0001t0004g0017 a0002c0002t0002g0145	2	214	0.0093	-23	c.-10 others(42): Show c.-106-7035_-106-7013delAAATATATATATATATATATATA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLK2_chr1_155257868_155278504	155258317	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	330	0.0030	-23	c.48 others(34): Show c.4878_*4900delAAAAAAAAAAAAAAAAAAAAAAG	CLK2	ENSG00000176444.19	transcript	ENST00000368361.9	protein_coding		4550		chr1	TogoVar
CLK2_chr1_155257868_155278504	155258318	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(172): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19082.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0005c0007 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0002c0002t0001 a0005c0007t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0001t0003g0087 a0001c0005t0001g0078 a0002c0002t0001g0073 a0005c0007t0001g0100 a0006c0006t0001g0099	175	224	0.7813	-23	c.48 others(34): Show c.4877_*4899delAAAAAAAAAAAAAAAAAAAAAAA	CLK2	ENSG00000176444.19	transcript	ENST00000368361.9	protein_coding		4549		chr1	TogoVar
CLMP_chr11_123064872_123200248	123119035	CTCTCTCT others(16): Show CTCTCTCTCTCCCTCTCCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	252	0.0040	-23	c.29- others(40): Show c.29-21106_29-21084delAGAGAGGGAGAGGGAGAGAGAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150513	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAAGAAAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0193 a0001c0001t0021g0193	1	251	0.0040	-23	c.28+ others(40): Show c.28+44377_28+44399delGTTTCTTTCCTTCCTTCCTTCCT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLOCK_chr4_55422903_55551909	55491520	AGTATTTT others(16): Show AGTATTTTTTTGAGACAACTCAAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0108 a0001c0001t0008g0108	1	336	0.0030	-23	c.-13 others(42): Show c.-135-2078_-135-2056delATTGAGTTGTCTCAAAAAAATAC	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	2/22			chr4	TogoVar
CLPTM1L_chr5_1312752_1350099	1333229	GGGGGGAC others(16): Show GGGGGGACTACTGTATACACACCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	368	0.0027	-23	c.891 others(40): Show c.891+1037_891+1059delTGGTGTGTATACAGTAGTCCCCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1336395	GGCCACCA others(16): Show GGCCACCACTGGCACAGCTGCGCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	368	0.0027	-23	c.679 others(40): Show c.679-1244_679-1222delGGCGCAGCTGTGCCAGTGGTGGC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	5/16			chr5	TogoVar
CLRN3_chr10_127872841_127897941	127878489	ACACATAT others(16): Show ACACATATATATGGGAATGTATTG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	454	0.0022	-23	c.410 others(36): Show c.410-92_410-70delCAATACATTCCCATATATATGTG	CLRN3	ENSG00000180745.5	transcript	ENST00000368671.4	protein_coding	2/2			chr10	TogoVar
CLSTN3_chr12_7125371_7163945	7126513	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	95	0.0105	-23	c.-41 others(34): Show c.-4135_-4113delTGTGTGTGTGTGTGTGTGTGTGT	CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding		3857		chr12	TogoVar
CLTC_chr17_59614895_59701956	59617465	TAGTAGGA others(16): Show TAGTAGGATTTGCTTCCTGGTCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	258	0.0039	-23	c.-26 others(34): Show c.-2666_-2644delAGTAGGATTTGCTTCCTGGTCTA	CLTC	ENSG00000141367.13	transcript	ENST00000269122.8	protein_coding		2429		chr17	TogoVar
CLUH_chr17_2684387_2716764	2691956	GCCACGCC others(16): Show GCCACGCCCCCGCCCCGCCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02976.hp2 others(2): Show HG02109.hp1 HG02647.hp2 HG02976.hp2 HG03195.hp1 HG03688.hp1	a0001 a0010 a0001 a0010	a0001c0007 a0001c0010 a0001c0040 others(1): Show a0001c0007 a0001c0010 a0001c0040 a0010c0031	a0001c0007t0002 a0001c0010t0003 a0001c0040t0003 others(1): Show a0001c0007t0002 a0001c0010t0003 a0001c0040t0003 a0010c0031t0004	a0001c0007t0002g0015 a0001c0010t0003g0257 a0001c0010t0003g0258 others(2): Show a0001c0007t0002g0015 a0001c0010t0003g0257 a0001c0010t0003g0258 a0001c0040t0003g0259 a0010c0031t0004g0169	5	399	0.0125	-23	c.365 others(38): Show c.3654+25_3654+47delGCGGGGGCGGGGCGGGGGCGTGG	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLUL1_chr18_591988_655182	591999	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	412	0.0024	-23	c.-52 others(34): Show c.-5265_-5243delTCTCTCTCTCTCTCTCTCTCTCT	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		4988		chr18	TogoVar
CLUL1_chr18_591988_655182	592016	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	412	0.0024	-23	c.-52 others(34): Show c.-5248_-5226delCTCTCTCTCTCTCTCTCTCTCTC	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		4971		chr18	TogoVar
CMAS_chr12_22041218_22070668	22041945	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	393	0.0025	-23	c.-43 others(34): Show c.-4358_-4336delAAAAAAAAAAAAAAAAAAAAAAA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding		4272		chr12	TogoVar
CMBL_chr5_10272595_10312902	10281881	CAGGCGTG others(16): Show CAGGCGTGGTGGCTCACACCCATA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02055.hp1 HG02145.hp1 others(15): Show HG01361.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03486.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 others(5): Show a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0017 a0001c0002t0019 a0001c0002t0020 a0001c0002t0022 a0001c0002t0025	a0001c0002t0006g0205 a0001c0002t0006g0210 a0001c0002t0006g0211 others(13): Show a0001c0002t0006g0205 a0001c0002t0006g0210 a0001c0002t0006g0211 a0001c0002t0006g0216 a0001c0002t0006g0218 a0001c0002t0006g0252 a0001c0002t0009g0212 a0001c0002t0009g0214 a0001c0002t0009g0219 a0001c0002t0012g0017 a0001c0002t0017g0209 a0001c0002t0017g0231 a0001c0002t0019g0176 a0001c0002t0020g0122 a0001c0002t0022g0233 a0001c0002t0025g0223	18	348	0.0517	-23	c.558 others(38): Show c.558+293_558+315delTATGGGTGTGAGCCACCACGCCT	CMBL	ENSG00000164237.9	transcript	ENST00000296658.4	protein_coding	5/5			chr5	TogoVar
CMC2_chr16_80961448_81011885	80965199	AAACATAT others(16): Show AAACATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02040.hp2 HG00597.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0206 a0001c0001t0047g0212 a0001c0001t0001g0206 a0001c0001t0047g0212	2	297	0.0067	-23	c.10 others(36): Show c.10871_*10893delATATATATATATATATATATGTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1248		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965223	ATATATAT others(16): Show ATATATATATATATATATATATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02976.hp2 NA18906.hp1 HG02257.hp2 HG02976.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0027 a0002c0002t0025 a0002c0002t0027	a0002c0002t0025g0058 a0002c0002t0025g0059 a0002c0002t0027g0294 a0002c0002t0025g0058 a0002c0002t0025g0059 a0002c0002t0027g0294	3	406	0.0074	-23	c.10 others(36): Show c.10847_*10869delACATATATATATATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1224		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965229	ATATATAT others(16): Show ATATATATATATATATGTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0110 a0002c0002t0006g0110	1	401	0.0025	-23	c.10 others(36): Show c.10841_*10863delAAAAAAACATATATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1218		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965231	ATATATAT others(16): Show ATATATATATATATGTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02622.hp2 NA19077.hp1 HG01346.hp2 HG02622.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0118 a0002c0002t0006 a0002c0002t0090 a0001c0001t0118 a0002c0002t0006 a0002c0002t0090	a0001c0001t0118g0189 a0002c0002t0006g0032 a0002c0002t0090g0173 a0001c0001t0118g0189 a0002c0002t0006g0032 a0002c0002t0090g0173	3	383	0.0078	-23	c.10 others(36): Show c.10839_*10861delAAAAAAAAACATATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1216		chr16	TogoVar
CMIP_chr16_81439808_81716762	81615281	GTGTGGTG others(16): Show GTGTGGTGTGTGTGCATGTGTAAC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	266	0.0038	-23	c.427 others(40): Show c.427-5592_427-5570delTGGTGTGTGTGCATGTGTAACTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81669307	CACCTCCT others(16): Show CACCTCCTTCCACACCCACTTCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(73): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG01106.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02027.hp1 HG02056.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18953.hp1 NA18964.hp1 NA18973.hp1 NA18975.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA19007.hp1 NA19011.hp1 NA19057.hp2 NA19060.hp1 NA19081.hp2 NA19082.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0001t0040 a0001c0001t0045 a0001c0001t0048 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0024 others(73): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0247 a0001c0001t0002g0215 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0248 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0143 a0001c0001t0004g0011 a0001c0001t0004g0159 a0001c0001t0005g0043 a0001c0001t0005g0054 a0001c0001t0006g0044 a0001c0001t0006g0104 a0001c0001t0006g0182 a0001c0001t0007g0229 a0001c0001t0007g0246 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0092 a0001c0001t0009g0069 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0009g0117 a0001c0001t0009g0235 a0001c0001t0010g0006 a0001c0001t0010g0257 a0001c0001t0011g0153 a0001c0001t0012g0053 a0001c0001t0013g0148 a0001c0001t0014g0128 a0001c0001t0015g0218 a0001c0001t0015g0230 a0001c0001t0016g0236 a0001c0001t0017g0030 a0001c0001t0018g0017 a0001c0001t0019g0068 a0001c0001t0023g0264 a0001c0001t0025g0191 a0001c0001t0027g0101 a0001c0001t0031g0158 a0001c0001t0034g0116 a0001c0001t0040g0243 a0001c0001t0045g0206 a0001c0001t0048g0074 a0001c0002t0001g0192 a0001c0002t0004g0162	76	266	0.2857	-23	c.826 others(38): Show c.826-818_826-796delACTTCATACCTCCTTCCACACCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMTM7_chr3_32386853_32460528	32430140	AACTGATA others(16): Show AACTGATAGAGTTGTGCAGCCATC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	366	0.0027	-23	c.160 others(42): Show c.160-11695_160-11673delATAGAGTTGTGCAGCCATCACTG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNDP1_chr18_74529500_74592212	74531457	TGTCCTTT others(16): Show TGTCCTTTCATTCAACAGTTACAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	388	0.0026	-23	c.-32 others(34): Show c.-3210_-3188delGTCCTTTCATTCAACAGTTACAG	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding		3042		chr18	TogoVar
CNIH3_chr1_224611317_224745554	224674272	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	11	0.0909	-23	c.82- others(38): Show c.82-6673_82-6651delTTTTTTTTTTTTTTTTTTTTTTT	CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNKSR2_chrX_21369418_21659689	21656930	CCCCCACC others(16): Show CCCCCACCAACAAGATGCGGGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0130 a0001c0001t0025g0130	1	161	0.0062	-23	c.44 others(34): Show c.4410_*4432delCCCCACCAACAAGATGCGGGTCT	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding		2242		chrX	TogoVar

Search by Variant

Search

Search Results