Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDK2AP1_chr12_123255976_123276856	123273645	AGCCAATA others(43): Show AGCCAATAGCGTTGTATTTTTTCCATTGTCCCCACTCCTCGCTCTAAGTC C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	328	0.0031	-50	c.-20 others(61): Show c.-2077_-2028delGGACTTAGAGCGAGGAGTGGGGACAATGGAAAAA ATACAACGCTATTGGC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		1790		chr12	TogoVar
CDKL4_chr2_39170646_39248970	39185394	ATATACAT others(43): Show ATATACATATGTGTATATATACATATATATATACATATGTATATATACAT G	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp2 HG02486.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0215 a0001c0001t0003g0194 a0001c0001t0001g0215 a0001c0001t0003g0194	2	290	0.0069	-50	c.736 others(65): Show c.736-797_736-748delCATGTATATATACATATGTATATATATATG TATATATACACATATGTATA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CDKN2A_chr9_21962752_21999392	21981042	ATATATAT others(43): Show ATATATATATATACGTGTATATATATATACGTGTATATATATATATACGT G	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	404	0.0025	-50	c.194 others(67): Show c.194-9884_194-9835delCACGTATATATATATATACACGTATATA TATATACACGTATATATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDYL_chr6_4771404_4960544	4900777	GTGTATAT others(43): Show GTGTATATATATATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	250	0.0040	-50	c.691 others(67): Show c.691+8400_691+8449delGTATATATATATATATATATATATATAT ATATATATATATATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM20_chr19_44501159_44534675	44532515	GAGAAAGA others(43): Show GAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAGAAAGAAAG A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0357 a0010c0017t0001g0357	1	438	0.0023	-50	c.-30 others(61): Show c.-3056_-3007delTCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTT TCTTTCCTTTCTTTCT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2841		chr19	TogoVar
CECR2_chr22_17364460_17563151	17419520	GAAGAAGA others(43): Show GAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGAAGA A	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0316 a0001c0001t0008g0316	1	324	0.0031	-50	c.126 others(69): Show c.126+49622_126+49671delGGAAGAGGAAGAGGAAGAGGAGGAGG AGGAGGAGGAAGAAAAGAAGAAGA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELSR1_chr22_46356174_46542620	46414574	ACGCAGGC others(43): Show ACGCAGGCTAACCGTCCACTCTCCCGCCTCTCGGCGAGTGTGGGTTTAAC G	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show HG02258.hp2 HG02922.hp2 HG03579.hp2 NA20129.hp2	a0003 a0010 a0040 others(1): Show a0003 a0010 a0040 a0043	a0003c0015 a0010c0069 a0040c0067 others(1): Show a0003c0015 a0010c0069 a0040c0067 a0043c0058	a0003c0015t0001 a0010c0069t0005 a0040c0067t0009 others(1): Show a0003c0015t0001 a0010c0069t0005 a0040c0067t0009 a0043c0058t0004	a0003c0015t0001g0022 a0010c0069t0005g0001 a0040c0067t0009g0104 others(1): Show a0003c0015t0001g0022 a0010c0069t0005g0001 a0040c0067t0009g0104 a0043c0058t0004g0096	4	104	0.0385	-50	c.461 others(69): Show c.4612-2865_4612-2816delCGTTAAACCCACACTCGCCGAGAGGC GGGAGAGTGGACGGTTAGCCTGCG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CENPO_chr2_24788425_24827376	24817542	GTGAGATT others(43): Show GTGAGATTGAATGTCAGTGATCCAGGCTCCGATTCCCCCAGCTGCACTGA A	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	382	0.0026	-50	c.767 others(64): Show c.767-116_767-67delGTCAGTGATCCAGGCTCCGATTCCCCCAGCT GCACTGAATGAGATTGAAT	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPP_chr9_92320953_92625529	92552012	ATGATATG others(43): Show ATGATATGATAGATCTATCATATATGTGATATTATAGGTCTATCATATAT G	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	260	0.0039	-50	c.565 others(69): Show c.565-59270_565-59221delTATAGGTCTATCATATATGTGATATG ATAGATCTATCATATATGTGATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP72_chr5_607340_658553	608766	TGTGGGAG others(43): Show TGTGGGAGCGTGCGCTGGGATGGGGAGGGGTCACTGTGAGCACGGTGCGT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00735.hp1 others(59): Show HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG03491.hp1 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19065.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0002c0002t0001 a0005c0007t0001 a0001c0001t0001 a0002c0002t0001 a0005c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0028 others(59): Show a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0089 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0005c0007t0001g0076	62	91	0.6813	-50	c.-35 others(61): Show c.-3595_-3546delGTGGGAGCGTGCGCTGGGATGGGGAGGGGTCACT GTGAGCACGGTGCGTC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding		3573		chr5	TogoVar
CERCAM_chr9_128415857_128442347	128437888	CACATACA others(43): Show CACATACACGTATATACACGTATATACACATACACGTATATACACGTATA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01952.hp1 HG02293.hp2 others(1): Show HG00642.hp2 HG01952.hp1 HG02293.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	4	400	0.0100	-50	c.10 others(61): Show c.1041_*1090delACATACACGTATATACACGTATATACACATACAC GTATATACACGTATAT	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		542		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437892	TACACGTA others(43): Show TACACGTATATACACGTATATACACATACACGTATATACACGTATATACA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG01099.hp1 others(19): Show HG00408.hp2 HG00733.hp2 HG01099.hp1 HG01123.hp1 HG01496.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02602.hp2 HG03239.hp2 HG03688.hp2 NA18960.hp2 NA18973.hp2 NA18984.hp2 NA18990.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19066.hp1 NA19068.hp2 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0106 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0155	22	400	0.0550	-50	c.10 others(61): Show c.1045_*1094delACACGTATATACACGTATATACACATACACGTAT ATACACGTATATACAC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		546		chr9	TogoVar
CERS3_chr15_100395395_100533950	100467846	TATATATA others(43): Show TATATATAGATAGATAGATAGATAGATAGATAGATATAGATATAGATATA G	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG02886.hp2 HG01243.hp1 HG02723.hp2 HG02886.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0002c0002 a0008c0013 a0001c0003 a0002c0002 a0008c0013	a0001c0003t0039 a0002c0002t0004 a0008c0013t0029 a0001c0003t0039 a0002c0002t0004 a0008c0013t0029	a0001c0003t0039g0321 a0002c0002t0004g0055 a0008c0013t0029g0134 a0001c0003t0039g0321 a0002c0002t0004g0055 a0008c0013t0029g0134	3	362	0.0083	-50	c.845 others(67): Show c.845+1482_845+1531delCTATATCTATATCTATATCTATCTATCT ATCTATCTATCTATCTATATAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02040.hp2 HG02074.hp2 others(6): Show HG01069.hp1 HG02040.hp2 HG02074.hp2 HG02155.hp2 HG02523.hp1 NA18973.hp1 NA18995.hp1 NA19010.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	9	372	0.0242	-50	c.74+ others(65): Show c.74+2376_74+2425delATATATATATATATATATATATATATATAT ATATATATATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP251_chr12_121913592_122008919	121993972	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(25): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01975.hp2 HG02148.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp2 HG03098.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG04204.hp2 NA20129.hp2	a0003 a0004 a0013 a0003 a0004 a0013	a0003c0003 a0004c0002 a0013c0016 a0003c0003 a0004c0002 a0013c0016	a0003c0003t0001 a0004c0002t0001 a0013c0016t0001 a0003c0003t0001 a0004c0002t0001 a0013c0016t0001	a0003c0003t0001g0057 a0003c0003t0001g0087 a0003c0003t0001g0088 others(25): Show a0003c0003t0001g0057 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0110 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0321 a0003c0003t0001g0322 a0003c0003t0001g0323 a0004c0002t0001g0033 a0013c0016t0001g0098	28	354	0.0791	-50	c.300 others(69): Show c.3007-5736_3007-5687delTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGG	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121994252	CCGGCCAG others(43): Show CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGC T	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04199.hp2 HG00423.hp1 HG04199.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0236 a0005c0005t0001g0241 a0005c0005t0001g0236 a0005c0005t0001g0241	2	354	0.0057	-50	c.300 others(69): Show c.3007-5427_3007-5378delTCAGCCCCCCCGCTCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGG	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP65_chr2_218997846_219046516	219009675	GTGGGGTG others(43): Show GTGGGGTGGGGTGGGGTGGGATGGGATGGAGTGGGGTGGGATGGAGTAGA A	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0007 a0032 a0007 a0032	a0007c0006 a0032c0032 a0007c0006 a0032c0032	a0007c0006t0003 a0032c0032t0003 a0007c0006t0003 a0032c0032t0003	a0007c0006t0003g0041 a0032c0032t0003g0035 a0007c0006t0003g0041 a0032c0032t0003g0035	2	322	0.0062	-50	c.445 others(67): Show c.4452+217_4453-216delTTCTACTCCATCCCACCCCACTCCATCC CATCCCACCCCACCCCACCCCA	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	27/34			chr2	TogoVar
CFAP69_chr7_90240174_90316063	90290743	GTCTTTTC others(43): Show GTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT T	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00673.hp1 others(31): Show HG00408.hp2 HG00438.hp2 HG00673.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp2 HG02135.hp1 HG02486.hp2 HG02602.hp2 HG02738.hp1 HG03195.hp1 NA18943.hp2 NA18949.hp1 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19058.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 others(28): Show a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0316	34	338	0.1006	-50	c.177 others(69): Show c.1775+2423_1775+2472delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTT	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP70_chr10_73248762_73363864	73284737	CACATATA others(43): Show CACATATATATATATATATATATATATATATATATATATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp2 HG01074.hp1 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0027 a0004c0004t0001g0028 a0004c0004t0001g0027 a0004c0004t0001g0028	2	220	0.0091	-50	c.244 others(69): Show c.2449+6439_2450-6401delATATATATATATATATATATATATAT ATATATATATATATATATATATGT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP92_chr3_128904873_128999076	128955142	GGGGGGGG others(43): Show GGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG T	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01070.hp2 others(22): Show HG00280.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01192.hp1 HG01261.hp2 HG01515.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 NA18906.hp1 NA18980.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0021t0001	a0001c0001t0001g0112 a0001c0001t0001g0279 a0001c0002t0001g0006 others(21): Show a0001c0001t0001g0112 a0001c0001t0001g0279 a0001c0002t0001g0006 a0001c0002t0001g0295 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0282 a0001c0003t0001g0288 a0001c0003t0004g0215 a0001c0003t0004g0274 a0001c0003t0004g0280 a0001c0003t0004g0281 a0001c0021t0001g0198	25	342	0.0731	-50	c.135 others(69): Show c.1354-9217_1354-9168delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGGCTGACCCCCCC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955501	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGACCGGCCAGCCGCCCCATCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00673.hp1 others(33): Show HG00099.hp1 HG00140.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01516.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp2 HG02717.hp1 HG02735.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18957.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18992.hp2 NA18999.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19057.hp1	a0001 a0008 a0014 a0001 a0008 a0014	a0001c0001 a0008c0027 a0014c0020 a0001c0001 a0008c0027 a0014c0020	a0001c0001t0001 a0008c0027t0001 a0014c0020t0001 a0001c0001t0001 a0008c0027t0001 a0014c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0008c0027t0001g0019 a0014c0020t0001g0270	36	342	0.1053	-50	c.135 others(69): Show c.1354-9576_1354-9527delCACCTCCCTCCCGGATGGGGCGGCTG GCCGGTCGGGGGGCTGACCCCCCC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFD_chr19_854664_868641	866633	CCTCCCCG others(43): Show CCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATG T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA19078.hp2 HG02040.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0016 a0001c0001t0004g0005 a0001c0001t0002g0016 a0001c0001t0004g0005	2	287	0.0070	-50	c.33 others(61): Show c.3396_*3445delCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTC GCCAGCGCTCCCATGT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2993		chr19	TogoVar
CFD_chr19_854664_868641	866645	CCCGCCGC others(43): Show CCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA19060.hp1 HG02129.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0046 a0002c0002t0001g0009 a0001c0001t0005g0046 a0002c0002t0001g0009	2	287	0.0070	-50	c.34 others(61): Show c.3408_*3457delCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCC ATGTCCTCCCCGTCCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3005		chr19	TogoVar
CFD_chr19_854664_868641	866662	CCCCTCGC others(43): Show CCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	287	0.0035	-50	c.34 others(61): Show c.3425_*3474delCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCAC CCGCCGCGGGCCTGCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3022		chr19	TogoVar
CFD_chr19_854664_868641	866677	CCCATGTC others(43): Show CCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0022	1	287	0.0035	-50	c.34 others(61): Show c.3440_*3489delCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGC ACCCCTCGCCAGCGCT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3037		chr19	TogoVar
CFD_chr19_854664_868641	866713	CCCCTCGC others(43): Show CCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCTGC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	287	0.0035	-50	c.34 others(61): Show c.3476_*3525delCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCAC CCGCCGCGGGCCTGCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3073		chr19	TogoVar
CFD_chr19_854664_868641	866911	CCCGCACC others(43): Show CCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	287	0.0035	-50	c.36 others(61): Show c.3674_*3723delCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCC GTCCACCCACTGCGGG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3271		chr19	TogoVar
CHD8_chr14_21380199_21461123	21442718	AGGGAGGA others(43): Show AGGGAGGAGAGGGGAAGAGACGGGAGGAGAGGGGAGGAGAGGGGAGGAGA G	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG02559.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	2	260	0.0077	-50	c.-21 others(71): Show c.-215-10910_-215-10861delCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCGTCTCTTCCCCTCTCCTCCC	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHRDL1_chrX_110668856_110800817	110689476	CTATATAT others(43): Show CTATATATCTATATCTCTATATATCTATATATCTATATCTCTATATATCT A	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0043 a0001c0002t0004g0043	1	172	0.0058	-50	c.779 others(65): Show c.779-723_779-674delTAGATATATAGAGATATAGATATATAGATA TATAGAGATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRNA3_chr15_78590309_78625996	78611794	ATGACATG others(43): Show ATGACATGATTGTATATCTAGAAAACCCCATTGTCTCAGCCCAAAATCTC C	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0114 a0001c0008t0004g0114	1	410	0.0024	-50	c.377 others(67): Show c.377+5180_377+5229delGGAGATTTTGGGCTGAGACAATGGGGTT TTCTAGATATACAATCATGTCA	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	4/5			chr15	TogoVar
CHRNB4_chr15_78619111_78646210	78632203	TTCTTTCT others(43): Show TTCTTTCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(65): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG02004.hp2 HG02015.hp2 HG02074.hp2 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02698.hp1 HG02717.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18956.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18972.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA19000.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19087.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0003t0002	a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0108 others(32): Show a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0158 a0001c0001t0001g0187 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0002g0126 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0228 a0001c0001t0003g0107 a0001c0001t0003g0130 a0001c0001t0003g0142 a0001c0001t0009g0025 a0001c0001t0009g0053 a0001c0001t0011g0026 a0001c0003t0002g0009	68	416	0.1635	-50	c.205 others(65): Show c.205-921_205-872delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGAAAGAAAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CHST12_chr7_2398611_2453484	2452517	GCCCTGCC others(43): Show GCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCCCTCCCCTCCCCT C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0183 a0001c0001t0183	a0001c0001t0183g0162 a0001c0001t0183g0162	1	344	0.0029	-50	c.18 others(63): Show c.18634_*18683delCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCC CTGCCCTCCCCTCCCCTC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding		4034		chr7	TogoVar
CHST15_chr10_124002668_124098598	124034671	TACCCCCT others(43): Show TACCCCCTAACAGGGACCCCGGCTCCACCCCCTAACAGGGACCCCGGCTC C	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	392	0.0026	-50	c.119 others(69): Show c.1190+3794_1190+3843delGGAGCCGGGGTCCCTGTTAGGGGGTG GAGCCGGGGTCCCTGTTAGGGGGT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST15_chr10_124002668_124098598	124035101	AGGGACCC others(43): Show AGGGACCCCGGCTCCGCCCCCTAACAGGGACCCCGGCTCCGCCCCCTAAC G	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18955.hp2 HG03669.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0133 a0001c0001t0012g0056 a0001c0001t0002g0133 a0001c0001t0012g0056	2	392	0.0051	-50	c.119 others(69): Show c.1190+3364_1190+3413delCGTTAGGGGGCGGAGCCGGGGTCCCT GTTAGGGGGCGGAGCCGGGGTCCC	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33757384	AAAGAAGA others(43): Show AAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0023 a0001c0001t0001g0026	2	254	0.0079	-50	c.131 others(69): Show c.131-14026_131-13977delGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757472	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	254	0.0039	-50	c.131 others(69): Show c.131-13889_131-13840delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLCN7_chr16_1439935_1480028	1457357	GTGCTCAG others(43): Show GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG A	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02155.hp1 HG02165.hp2 others(14): Show HG00558.hp2 HG02155.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG03195.hp1 HG03491.hp2 HG06807.hp2 NA18942.hp2 NA18967.hp2 NA18974.hp2 NA18995.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19063.hp1 NA19067.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0004c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0034 a0001c0003t0001 a0001c0003t0002 a0001c0003t0038 a0001c0004t0001 a0001c0007t0003 a0004c0018t0053	a0001c0001t0001g0106 a0001c0002t0001g0059 a0001c0002t0001g0068 others(14): Show a0001c0001t0001g0106 a0001c0002t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0085 a0001c0002t0001g0128 a0001c0002t0001g0155 a0001c0002t0002g0205 a0001c0002t0034g0277 a0001c0003t0001g0310 a0001c0003t0001g0341 a0001c0003t0002g0316 a0001c0003t0038g0315 a0001c0004t0001g0311 a0001c0004t0001g0332 a0001c0007t0003g0191 a0001c0007t0003g0192 a0004c0018t0053g0276	17	404	0.0421	-50	c.739 others(63): Show c.739-70_739-21delTCGGTCCTTCTGGTCTCCAGGAAGGGCCGCGT CACGCGTGTCTCTGAGCA	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24			chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457457	ATGCTCAG others(43): Show ATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG G	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01070.hp2 others(14): Show HG00639.hp1 HG00738.hp2 HG01070.hp2 HG01257.hp1 HG01346.hp1 HG02004.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp2 HG02922.hp1 HG03225.hp2 HG03471.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0002c0011	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0015 a0001c0002t0036 a0001c0002t0042 a0001c0003t0002 a0001c0003t0008 a0001c0004t0001 a0002c0006t0010 a0002c0011t0018	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0008g0077 others(13): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0008g0077 a0001c0002t0002g0011 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0015g0050 a0001c0002t0015g0268 a0001c0002t0015g0275 a0001c0002t0036g0207 a0001c0002t0042g0269 a0001c0003t0002g0329 a0001c0003t0008g0384 a0001c0004t0001g0354 a0002c0006t0010g0258 a0002c0011t0018g0254	17	404	0.0421	-50	c.739 others(65): Show c.739-170_739-121delCCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCA	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24			chr16	TogoVar
CLDN4_chr7_73825996_73837690	73836214	TCCGGGAG others(43): Show TCCGGGAGGGAGGTGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGT C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	1	372	0.0027	-50	c.43 others(61): Show c.4384_*4433delCCGGGAGGGAGGTGGGGGCATCAGCCCCCCGCCC GGCCAGCCGCCCCGTC	CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding		3525		chr7	TogoVar
CLDN4_chr7_73825996_73837690	73836227	TGGGGGCA others(43): Show TGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	372	0.0027	-50	c.43 others(61): Show c.4397_*4446delGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCAGGAGGGAGGTG	CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding		3538		chr7	TogoVar
CLIC5_chr6_45893456_46020860	46006077	TACACATG others(43): Show TACACATGTATAAATACATATATATATATATATATACACATGTATAAATA C	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0038 a0001c0001t0040g0038	1	340	0.0029	-50	c.63+ others(65): Show c.63+9353_63+9402delGTATTTATACATGTGTATATATATATATAT ATATGTATTTATACATGTGT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	46016093	GAAGGGGA others(43): Show GAAGGGGAAGGGGAAGAGGAAGGGGAAAGGGGAAGGGGAAGAGGAAGGGG A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00741.hp1 others(23): Show HG00280.hp2 HG00323.hp1 HG00741.hp1 HG01261.hp1 HG01346.hp2 HG01934.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0027 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 others(23): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0004g0023 a0001c0001t0008g0025 a0001c0001t0008g0035 a0001c0001t0008g0041 a0001c0001t0013g0040 a0001c0001t0013g0042 a0001c0001t0013g0045 a0001c0001t0014g0005 a0001c0001t0022g0024 a0001c0001t0027g0006 a0001c0001t0040g0038 a0001c0001t0041g0013	26	340	0.0765	-50	c.-60 others(59): Show c.-601_-552delTCCCCTTCCTCTTCCCCTTCCCCTTTCCCCTTCCTC TTCCCCTTCCCCTT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding		234		chr6	TogoVar
CLINT1_chr5_157780747_157864145	157860673	GGGCACAC others(43): Show GGGCACACTCTTGTGAGGCCAGCTACTTAGGAGGTTGAAATGGAAGGATC C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	340	0.0029	-50	c.-17 others(61): Show c.-1753_-1704delGGATCCTTCCATTTCAACCTCCTAAGTAGCTGGC CTCACAAGAGTGTGCC	CLINT1	ENSG00000113282.14	transcript	ENST00000411809.7	protein_coding		1529		chr5	TogoVar
CLMP_chr11_123064872_123200248	123118955	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT C	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0086 a0001c0001t0016g0086	1	254	0.0039	-50	c.29- others(67): Show c.29-21053_29-21004delGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLPX_chr15_65143219_65190342	65145972	AATATATA others(43): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG01891.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0043 a0001c0001t0006g0044	2	190	0.0105	-50	c.48 others(61): Show c.4801_*4850delATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATAT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2246		chr15	TogoVar
CLPX_chr15_65143219_65190342	65146032	AATATATA others(43): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0177 a0001c0004t0014g0177	1	190	0.0053	-50	c.47 others(61): Show c.4741_*4790delATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATAT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2186		chr15	TogoVar
CNGA1_chr4_47930977_48021681	47976264	TATATATA others(43): Show TATATATACATATATATGTATATATATATATACACATACATATATATATA C	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG03041.hp2 others(1): Show HG02109.hp2 HG02145.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207	4	366	0.0109	-50	c.-15 others(67): Show c.-15+5079_-15+5128delGTATATATATATGTATGTGTATATATAT ATATACATATATATGTATATAT	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNGB3_chr8_86569179_86748634	86694049	GGACGGGG others(43): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(104): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01175.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp2 HG01978.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA18988.hp2 NA18994.hp1 NA18999.hp1 NA19001.hp2 NA19006.hp1 NA19009.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0014 a0018	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0008c0008 a0014c0018 a0018c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003 a0003c0004t0002 a0003c0004t0007 a0008c0008t0001 a0014c0018t0001 a0018c0022t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 others(104): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0214 a0001c0001t0003g0219 a0001c0001t0004g0259 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0009g0286 a0002c0002t0001g0216 a0002c0002t0001g0273 a0002c0002t0003g0199 a0003c0004t0002g0202 a0003c0004t0002g0223 a0003c0004t0002g0242 a0003c0004t0002g0248 a0003c0004t0002g0249 a0003c0004t0002g0272 a0003c0004t0002g0278 a0003c0004t0002g0283 a0003c0004t0007g0230 a0008c0008t0001g0002 a0008c0008t0001g0003 a0008c0008t0001g0004 a0008c0008t0001g0005 a0008c0008t0001g0006 a0008c0008t0001g0007 a0014c0018t0001g0206 a0018c0022t0001g0287	107	288	0.3715	-50	c.339 others(69): Show c.339-23001_339-22952delTGGGAGGGAGGTGGGGGGGTCAGCCC CCCCGCCCGGCCAGCCGCCCCGTC	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17			chr8	TogoVar
CNGB3_chr8_86569179_86748634	86694147	TGGACGGG others(43): Show TGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCC C	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG02004.hp2 others(4): Show HG00735.hp1 HG01433.hp1 HG02004.hp2 HG02109.hp1 HG02615.hp2 HG02895.hp1 NA19030.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0013 a0015	a0001c0001 a0003c0011 a0007c0007 others(2): Show a0001c0001 a0003c0011 a0007c0007 a0013c0019 a0015c0017	a0001c0001t0001 a0001c0001t0004 a0003c0011t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0003c0011t0002 a0007c0007t0001 a0013c0019t0002 a0015c0017t0001	a0001c0001t0001g0035 a0001c0001t0001g0176 a0001c0001t0004g0017 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0176 a0001c0001t0004g0017 a0003c0011t0002g0060 a0007c0007t0001g0014 a0013c0019t0002g0009 a0015c0017t0001g0096	7	288	0.0243	-50	c.339 others(69): Show c.339-23099_339-23050delGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCC	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17			chr8	TogoVar
CNTN1_chr12_40687439_41077415	40983830	ATATGCTA others(43): Show ATATGCTATTATAGCATATTTTATTATATGCTATTATAGCATATTTTATT T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01255.hp1 others(12): Show HG00099.hp1 HG01069.hp2 HG01255.hp1 HG01884.hp2 HG02273.hp1 HG02559.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 NA19030.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0006 a0001c0004 a0001c0005 a0001c0006	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(3): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0007 a0001c0005t0007 a0001c0006t0006	a0001c0004t0001g0217 a0001c0004t0002g0008 a0001c0004t0003g0168 others(12): Show a0001c0004t0001g0217 a0001c0004t0002g0008 a0001c0004t0003g0168 a0001c0004t0003g0171 a0001c0004t0007g0003 a0001c0004t0007g0004 a0001c0004t0007g0057 a0001c0004t0007g0213 a0001c0004t0007g0214 a0001c0005t0007g0148 a0001c0006t0006g0015 a0001c0006t0006g0017 a0001c0006t0006g0021 a0001c0006t0006g0051 a0001c0006t0006g0119	15	230	0.0652	-50	c.196 others(69): Show c.1963+2813_1963+2862delTTATGCTATTATAGCATATTTTATTA TATGCTATTATAGCATATTTTATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results