Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BRCA1_chr17_43039295_43130364	43124239	CAAAGAAC others(20): Show CAAAGAACTAATGACAACGTCCTTTATT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0166 a0003c0003t0002g0166	1	276	0.0036	-27	c.-19 others(42): Show c.-19-151_-19-125delAATAAAGGACGTTGTCATTAGTTCTTT		BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	1/22						chr17	TogoVar
BRD1_chr22_49768283_49832873	49799292	AGAGGGGA others(20): Show AGAGGGGACAGAGGAGACAGAGGGGATG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02602.hp2 HG01255.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0058 a0001c0001t0002g0059	2	258	0.0078	-27	c.152 others(44): Show c.1525-200_1525-174delCATCCCCTCTGTCTCCTCTGTCCCCTC		BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12						chr22	TogoVar
BRD7_chr16_50310957_50373988	50313360	TGAGCTGG others(20): Show TGAGCTGGGATCACGCCACTGCACTACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0280 a0001c0002t0002g0280	1	402	0.0025	-27	c.58 others(38): Show c.5824_*5850delTGTAGTGCAGTGGCGTGATCCCAGCTC		BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding					2596		chr16	TogoVar
BRD7_chr16_50310957_50373988	50351830	CCTTGTAT others(20): Show CCTTGTATGTATGTATGTATGTATGTAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp1 others(146): Show HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0011 a0012	a0001c0001 a0003c0004 a0007c0008 others(2): Show a0001c0001 a0003c0004 a0007c0008 a0011c0012 a0012c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0003c0004t0010 a0003c0004t0030 a0007c0008t0026 a0011c0012t0005 a0012c0005t0010	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(130): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0039 a0001c0001t0005g0083 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0117 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0130 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0007g0013 a0001c0001t0007g0033 a0001c0001t0007g0062 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0096 a0001c0001t0007g0104 a0001c0001t0007g0106 a0001c0001t0009g0011 a0001c0001t0009g0105 a0001c0001t0009g0108 a0001c0001t0011g0074 a0001c0001t0011g0076 a0001c0001t0011g0112 a0001c0001t0011g0113 a0001c0001t0020g0035 a0001c0001t0020g0043 a0001c0001t0022g0072 a0001c0001t0022g0073 a0001c0001t0025g0075 a0001c0001t0027g0051 a0001c0001t0034g0277 a0001c0001t0035g0278 a0003c0004t0010g0268 a0003c0004t0010g0269 a0003c0004t0010g0270 a0003c0004t0030g0271 a0007c0008t0026g0091 a0011c0012t0005g0088 a0012c0005t0010g0267	149	402	0.3707	-27	c.447 others(44): Show c.447-1690_447-1664delATACATACATACATACATACATACAAG		BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding	4/16						chr16	TogoVar
BRDT_chr1_91944401_92019421	91962144	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0046 a0005c0005t0004g0046	1	318	0.0031	-27	c.-37 others(42): Show c.-37-552_-37-526delAAAAAAAAAAAAAAAAAAAAAAAAAAA		BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
BRDT_chr1_91944401_92019421	91977038	TGTAGGTT others(20): Show TGTAGGTTACAAAAGGTGTGAAGAGGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19059.hp1 NA19059.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0069 a0012c0016t0002g0069	1	318	0.0031	-27	c.619 others(36): Show c.619-4_641delGTAGGTTACAAAAGGTGTGAAGAGGAA	p.Val others(5): Show p.Val207fs	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	6/19		619/2844	207/947			chr1	TogoVar
BRF1_chr14_105204286_105306001	105214521	CCTGCGTG others(20): Show CCTGCGTGGCTCAGCTGCCCACACCCCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp2 HG03471.hp2 others(2): Show HG02818.hp1 HG02970.hp2 HG03471.hp2 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0015 a0001c0001t0002g0057 a0001c0001t0002g0069 others(2): Show a0001c0001t0002g0015 a0001c0001t0002g0057 a0001c0001t0002g0069 a0001c0002t0005g0004 a0001c0002t0005g0061	5	72	0.0694	-27	c.177 others(46): Show c.1773-2384_1773-2358delAGGGGTGTGGGCAGCTGAGCCACGCA G		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	15/17						chr14	TogoVar
BRINP3_chr1_190092658_190482864	190405466	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	240	0.0042	-27	c.236 others(46): Show c.236+49162_236+49188delGTTTTTTTTTTTTTTTTTTTTTTTTT T		BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7						chr1	TogoVar
BRIP1_chr17_61674139_61868528	61765403	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03540.hp1 NA21309.hp2 HG02257.hp2 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0142 a0001c0001t0017g0144 a0001c0001t0017g0145 a0001c0001t0017g0142 a0001c0001t0017g0144 a0001c0001t0017g0145	3	266	0.0113	-27	c.209 others(48): Show c.2097+10971_2097+10997delAAAAAAATATATATATATATATAT ATA		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19						chr17	TogoVar
BRMS1_chr11_66332339_66350104	66341884	ACGTGCTT others(20): Show ACGTGCTTGTGTGTAGGGGCTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01934.hp1 HG02723.hp2 others(8): Show HG00544.hp2 HG01934.hp1 HG02723.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 NA18947.hp2 NA18975.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	11	424	0.0259	-27	c.139 others(42): Show c.139+185_139+211delCACACACAGCCCCTACACACAAGCACG		BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding	2/9						chr11	TogoVar
BRWD1_chr21_39180482_39318632	39217052	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	338	0.0030	-27	c.365 others(46): Show c.3659+1073_3659+1099delTATATATATATATATATATATATATA T		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40						chr21	TogoVar
BSG_chr19_567596_588493	574568	AAAAATTT others(20): Show AAAAATTTATTGTGACCGATGTGTTGGG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	306	0.0033	-27	c.67+ others(42): Show c.67+1870_67+1896delAATTTATTGTGACCGATGTGTTGGGAA		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
BTBD19_chr1_44803523_44820585	44816480	TGTATATT others(20): Show TGTATATTATATATACACATAGATGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01943.hp2 HG02080.hp2 others(23): Show HG01167.hp1 HG01943.hp2 HG02080.hp2 HG02257.hp2 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA18948.hp2 NA18979.hp2 NA19043.hp2 NA19057.hp1 NA19064.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0023 others(10): Show a0001c0001t0012 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0041 a0001c0001t0042 a0001c0001t0051 a0001c0001t0075 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132	a0001c0001t0012g0006 a0001c0001t0020g0093 a0001c0001t0023g0006 others(12): Show a0001c0001t0012g0006 a0001c0001t0020g0093 a0001c0001t0023g0006 a0001c0001t0028g0007 a0001c0001t0028g0091 a0001c0001t0029g0007 a0001c0001t0041g0007 a0001c0001t0042g0007 a0001c0001t0051g0006 a0001c0001t0051g0083 a0001c0001t0075g0007 a0001c0001t0129g0006 a0001c0001t0130g0006 a0001c0001t0131g0006 a0001c0001t0132g0006	26	436	0.0596	-27	c.27 others(38): Show c.2709_*2735delGTATATTATATATACACATAGATGTGA		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding					896		chr1	TogoVar
BTNL9_chr5_181035266_181066521	181048797	TATATTAT others(20): Show TATATTATATAATTATATTAGTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19009.hp1 NA19056.hp1 HG00438.hp2 NA19009.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0147 a0001c0001t0001g0031 a0001c0001t0001g0147	3	390	0.0077	-27	c.454 others(42): Show c.454+585_454+611delTATATAATTATATTAGTTATATAATAT		BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
C11orf54_chr11_93736672_93769749	93756153	CAAGACTC others(20): Show CAAGACTCTGTCTCCAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	364	0.0028	-27	c.507 others(42): Show c.507+770_507+796delGACTCTGTCTCCAAAAAAAAAAAAAAA		C11orf54	ENSG00000182919.15	transcript	ENST00000354421.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
C12orf43_chr12_120995486_121021487	120997538	CCTGCAGC others(20): Show CCTGCAGCCCGTCCAGTTCTCCCAGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG00639.hp1 HG01074.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0011 a0002c0007t0033 a0002c0007t0011 a0002c0007t0033	a0002c0007t0011g0028 a0002c0007t0033g0075 a0002c0007t0011g0028 a0002c0007t0033g0075	2	418	0.0048	-27	c.65 others(38): Show c.6588_*6614delCGGCTGGGAGAACTGGACGGGCTGCAG		C12orf43	ENSG00000157895.11	transcript	ENST00000288757.7	protein_coding					2947		chr12	TogoVar
C13orf46_chr13_113948705_113979076	113965669	TAATGGTG others(20): Show TAATGGTGATGGTGATGATGATGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	414	0.0024	-27	c.505 others(42): Show c.505-702_505-676delGTCACCATCATCATCACCATCACCATT		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	5/6						chr13	TogoVar
C14orf39_chr14_60430956_60491063	60433570	TATTATAG others(20): Show TATTATAGCTATATAATAATGTTATATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18974.hp2 NA18998.hp2 others(1): Show HG03471.hp2 NA18974.hp2 NA18998.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0001 a0003c0004t0002	a0001c0001t0001g0016 a0001c0001t0001g0047 a0003c0004t0001g0161 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0047 a0003c0004t0001g0161 a0003c0004t0002g0171	4	294	0.0136	-27	c.32 others(38): Show c.3248_*3274delGATATAACATTATTATATAGCTATAAT		C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding					2385		chr14	TogoVar
C14orf39_chr14_60430956_60491063	60434319	AATAATGT others(20): Show AATAATGTTATATTATTATAGTTATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02257.hp2 HG01496.hp1 HG02257.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0126 a0009c0010t0001g0127 a0001c0001t0001g0126 a0009c0010t0001g0127	2	294	0.0068	-27	c.24 others(38): Show c.2499_*2525delAATATAACTATAATAATATAACATTAT		C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding					1636		chr14	TogoVar
C14orf93_chr14_22980894_23015143	23003871	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0091 a0001c0005t0001g0091	1	344	0.0029	-27	c.-37 others(46): Show c.-379-4496_-379-4470delTATATATATATATATATATATATATA T		C14orf93	ENSG00000100802.15	transcript	ENST00000299088.11	protein_coding	1/6						chr14	TogoVar
C15orf40_chr15_82989817_83016639	83015887	TAGAACAG others(20): Show TAGAACAGGAGAAAAACCTGAGGCCACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0037 a0001c0001t0034g0037	1	406	0.0025	-27	c.-43 others(38): Show c.-4307_-4281delTGTGGCCTCAGGTTTTTCTCCTGTTCT		C15orf40	ENSG00000169609.14	transcript	ENST00000304177.10	protein_coding					4249		chr15	TogoVar
C17orf80_chr17_73227433_73253959	73237700	TACAAGAA others(20): Show TACAAGAAATAGGTTCTAAGTTTACAGG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG02145.hp1 others(10): Show HG01106.hp1 HG01109.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02965.hp1 HG02976.hp2 HG03516.hp1 HG03579.hp1 NA19030.hp2 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0012 a0003c0004t0005g0025 a0003c0004t0005g0045 others(3): Show a0003c0004t0005g0012 a0003c0004t0005g0025 a0003c0004t0005g0045 a0003c0004t0005g0113 a0003c0004t0005g0114 a0003c0004t0005g0115	13	384	0.0339	-27	c.151 others(44): Show c.1513+723_1513+749delAGTTTACAGGACAAGAAATAGGTTCTA		C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
C19orf38_chr19_10843415_10874790	10859433	AGTACAGT others(20): Show AGTACAGTGGCGCAATCTCGGCTCACTG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	384	0.0026	-27	c.462 others(42): Show c.462-481_462-455delGTACAGTGGCGCAATCTCGGCTCACTG		C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding	4/6						chr19	TogoVar
C1QTNF12_chr1_1237453_1251722	1243640	CCCCTCAC others(20): Show CCCCTCACTCGGAGCAGCTCTCCCGGGA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	328	0.0031	-27	c.532 others(41): Show c.532-115_532-89delTCCCGGGAGAGCTGCTCCGAGTGAGGG		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	4/7						chr1	TogoVar
C1QTNF5_chr11_119333942_119345883	119342179	CGCTTGCC others(20): Show CGCTTGCCAGCCCTGGGCATCATGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	-27	c.-15 others(38): Show c.-1555_-1529delCCTGCATGATGCCCAGGGCTGGCAAGC		C1QTNF5	ENSG00000223953.6	transcript	ENST00000528368.3	protein_coding					1297		chr11	TogoVar
C1orf21_chr1_184382029_184634019	184460620	GTCTTCTT others(20): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19005.hp2 HG01358.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0098 a0001c0001t0023g0057 a0001c0001t0002g0098 a0001c0001t0023g0057	2	232	0.0086	-27	c.-12 others(48): Show c.-124-16725_-124-16699delCTTCTTCTTCTTCTTCTTCTTCTT CTT		C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf43_chr1_154201720_154225590	154203171	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	374	0.0027	-27	c.42 others(38): Show c.4255_*4281delATATATATATATATATATATATATATT		C1orf43	ENSG00000143612.21	transcript	ENST00000368521.10	protein_coding					3548		chr1	TogoVar
C22orf31_chr22_29053672_29066831	29064675	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	472	0.0021	-27	c.-29 others(38): Show c.-2910_-2884delAAAAAAAAAAAAAAAAAAAAAAAAAAA		C22orf31	ENSG00000100249.5	transcript	ENST00000216071.5	protein_coding					2845		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146169	ATATATAT others(20): Show ATATATATTATTATATAATATAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	398	0.0025	-27	c.33 others(38): Show c.3344_*3370delATATATTATATTATATAATAATATATA		C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding					2836		chr22	TogoVar
C2CD3_chr11_74007718_74176002	74148020	TAAATTTT others(20): Show TAAATTTTACAAATGTCTTAAATTTTAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02647.hp2 others(7): Show HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03453.hp2 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0032 a0004c0004t0001g0033 a0004c0004t0001g0034 others(7): Show a0004c0004t0001g0032 a0004c0004t0001g0033 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0045 a0004c0004t0001g0048 a0004c0004t0001g0183	10	318	0.0315	-27	c.484 others(44): Show c.484-8219_484-8193delGTAAAATTTAAGACATTTGTAAAATTT		C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32						chr11	TogoVar
C2CD4C_chr19_400445_414147	404067	GGACGGGG others(20): Show GGACGGGGTCCTGCCCCGAGGGGTCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	322	0.0031	-27	c.30 others(38): Show c.3002_*3028delTCAGACCCCTCGGGGCAGGACCCCGTC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1377		chr19	TogoVar
C2CD4C_chr19_400445_414147	404256	GGGACGGG others(20): Show GGGACGGGTCCTGTCCTGAGGGGTCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02717.hp1 HG02976.hp2 others(3): Show HG00140.hp1 HG02717.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0013 a0001c0001 a0001c0004 a0001c0013	a0001c0001t0031 a0001c0001t0092 a0001c0001t0094 others(3): Show a0001c0001t0031 a0001c0001t0092 a0001c0001t0094 a0001c0001t0118 a0001c0004t0004 a0001c0013t0040	a0001c0001t0031g0027 a0001c0001t0092g0045 a0001c0001t0094g0077 others(3): Show a0001c0001t0031g0027 a0001c0001t0092g0045 a0001c0001t0094g0077 a0001c0001t0118g0096 a0001c0004t0004g0004 a0001c0013t0040g0121	6	322	0.0186	-27	c.28 others(38): Show c.2813_*2839delTCAGACCCCTCAGGACAGGACCCGTCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1188		chr19	TogoVar
C2CD6_chr2_201482421_201624178	201560444	TAATAATA others(20): Show TAATAATAATAATAATAATAATAATAAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02976.hp2 HG03471.hp2 HG01515.hp1 HG02976.hp2 HG03471.hp2	a0003 a0013 a0003 a0013	a0003c0003 a0013c0010 a0003c0003 a0013c0010	a0003c0003t0001 a0013c0010t0001 a0003c0003t0001 a0013c0010t0001	a0003c0003t0001g0037 a0013c0010t0001g0013 a0013c0010t0001g0014 a0003c0003t0001g0037 a0013c0010t0001g0013 a0013c0010t0001g0014	3	270	0.0111	-27	c.977 others(44): Show c.977+5258_977+5284delGTTATTATTATTATTATTATTATTATT		C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15						chr2	TogoVar
C3orf49_chr3_63814299_63853636	63827937	CAACAGTG others(20): Show CAACAGTGGATGGAGTTTGGATTTTTAT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19087.hp1 NA19070.hp1 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0122 a0003c0003t0001g0135 a0003c0003t0001g0122 a0003c0003t0001g0135	2	388	0.0052	-27	c.570 others(42): Show c.570+216_570+242delAGTGGATGGAGTTTGGATTTTTATAAC		C3orf49	ENSG00000163632.15	transcript	ENST00000295896.13	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
C3orf70_chr3_185071838_185158060	185091941	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02056.hp1 HG04199.hp2 others(1): Show HG00642.hp2 HG02056.hp1 HG04199.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0083 a0001c0001t0112 others(1): Show a0001c0001t0082 a0001c0001t0083 a0001c0001t0112 a0001c0001t0143	a0001c0001t0082g0212 a0001c0001t0083g0209 a0001c0001t0112g0085 others(1): Show a0001c0001t0082g0212 a0001c0001t0083g0209 a0001c0001t0112g0085 a0001c0001t0143g0382	4	388	0.0103	-27	c.197 others(44): Show c.197-8405_197-8379delAAAAATATATATATATATATATATATA		C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1						chr3	TogoVar
C4orf45_chr4_158888134_159040229	159040072	CCGTTTAG others(20): Show CCGTTTAGCAGTGAACCTTATACTTTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	264	0.0038	-27	c.-50 others(38): Show c.-5003_-4977delTAAAAGTATAAGGTTCACTGCTAAACG		C4orf45	ENSG00000164123.7	transcript	ENST00000434826.3	protein_coding					4844		chr4	TogoVar
C5orf34_chr5_43481709_43520148	43512760	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02280.hp2 others(1): Show HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02630.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0038 a0003c0006t0001g0039 a0003c0006t0001g0038 a0003c0006t0001g0039	4	340	0.0118	-27	c.-37 others(44): Show c.-37+2019_-37+2045delAAAAAAAAAAAAAAAAAAAAAAAAAAA		C5orf34	ENSG00000172244.9	transcript	ENST00000306862.7	protein_coding	1/12						chr5	TogoVar
C5orf46_chr5_147887722_147911538	147911316	GACCACCA others(20): Show GACCACCACCACCACCACCACCACCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02622.hp2 others(6): Show HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02717.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0003c0002t0001	a0001c0001t0001g0001 a0002c0003t0001g0013 a0002c0003t0001g0058 others(5): Show a0001c0001t0001g0001 a0002c0003t0001g0013 a0002c0003t0001g0058 a0002c0003t0001g0080 a0002c0003t0002g0012 a0003c0002t0001g0002 a0003c0002t0001g0091 a0003c0002t0001g0096	9	452	0.0199	-27	c.-48 others(38): Show c.-4842_-4816delGGTGGTGGTGGTGGTGGTGGTGGTGGT		C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding					4779		chr5	TogoVar
C6orf132_chr6_42096119_42147620	42107366	GGGTGGGG others(20): Show GGGTGGGGGTTCCAGCAGCAGGGGAGGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG00733.hp1 HG00738.hp1 others(6): Show HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 NA20805.hp2	a0007 a0018 a0007 a0018	a0007c0008 a0018c0019 a0007c0008 a0018c0019	a0007c0008t0005 a0018c0019t0005 a0007c0008t0005 a0018c0019t0005	a0007c0008t0005g0160 a0007c0008t0005g0175 a0007c0008t0005g0176 others(5): Show a0007c0008t0005g0160 a0007c0008t0005g0175 a0007c0008t0005g0176 a0007c0008t0005g0226 a0007c0008t0005g0227 a0007c0008t0005g0228 a0007c0008t0005g0246 a0018c0019t0005g0003	9	364	0.0247	-27	c.519 others(34): Show c.519_545delACCTCCCCTGCTGCTGGAACCCCCACC	p.Pro others(13): Show p.Pro174_Pro182del	C6orf132	ENSG00000188112.10	transcript	ENST00000341865.9	protein_coding	4/5	721/6385	519/3567	173/1188			chr6	TogoVar
C7_chr5_40904497_40989643	40968584	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0007 a0006c0016t0007	a0006c0016t0007g0116 a0006c0016t0007g0116	1	380	0.0026	-27	c.188 others(46): Show c.1882+3713_1882+3739delATATATATATATATATTTTTTTTTTT T		C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968586	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG00741.hp1 others(47): Show HG00558.hp2 HG00642.hp2 HG00741.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG02004.hp2 HG02109.hp1 HG02148.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp2 HG03704.hp2 HG04204.hp2 HG06807.hp1 NA18940.hp2 NA18942.hp1 NA18948.hp1 NA18971.hp2 NA18982.hp1 NA18983.hp1 NA18992.hp1 NA19000.hp2 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19080.hp1 NA19081.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0018	a0001c0001 a0001c0025 a0002c0002 others(4): Show a0001c0001 a0001c0025 a0002c0002 a0004c0004 a0006c0006 a0007c0007 a0018c0026	a0001c0001t0005 a0001c0001t0023 a0001c0001t0024 others(8): Show a0001c0001t0005 a0001c0001t0023 a0001c0001t0024 a0001c0025t0035 a0002c0002t0005 a0004c0004t0005 a0004c0004t0015 a0006c0006t0007 a0006c0006t0014 a0007c0007t0007 a0018c0026t0005	a0001c0001t0005g0002 a0001c0001t0005g0005 a0001c0001t0005g0006 others(46): Show a0001c0001t0005g0002 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0011 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0055 a0001c0001t0005g0057 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0240 a0001c0001t0005g0279 a0001c0001t0005g0321 a0001c0001t0005g0348 a0001c0001t0005g0374 a0001c0001t0005g0376 a0001c0001t0023g0037 a0001c0001t0024g0059 a0001c0025t0035g0367 a0002c0002t0005g0016 a0002c0002t0005g0119 a0002c0002t0005g0137 a0002c0002t0005g0142 a0002c0002t0005g0153 a0002c0002t0005g0177 a0002c0002t0005g0293 a0004c0004t0005g0305 a0004c0004t0015g0021 a0006c0006t0007g0079 a0006c0006t0007g0097 a0006c0006t0007g0100 a0006c0006t0014g0102 a0006c0006t0014g0106 a0007c0007t0007g0038 a0007c0007t0007g0267 a0007c0007t0007g0268 a0007c0007t0007g0269 a0007c0007t0007g0270 a0007c0007t0007g0271 a0018c0026t0005g0375	50	380	0.1316	-27	c.188 others(46): Show c.1882+3715_1882+3741delATATATATATATATTTTTTTTTTTTT T		C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968588	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03492.hp2 HG03710.hp1 others(5): Show HG00423.hp1 HG03492.hp2 HG03710.hp1 HG04204.hp1 NA18906.hp1 NA18997.hp1 NA19090.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0007c0007	a0001c0001t0005 a0001c0001t0015 a0002c0002t0005 others(3): Show a0001c0001t0005 a0001c0001t0015 a0002c0002t0005 a0003c0003t0001 a0006c0006t0007 a0007c0007t0007	a0001c0001t0005g0036 a0001c0001t0015g0056 a0002c0002t0005g0192 others(5): Show a0001c0001t0005g0036 a0001c0001t0015g0056 a0002c0002t0005g0192 a0002c0002t0005g0316 a0003c0003t0001g0371 a0003c0003t0001g0372 a0006c0006t0007g0101 a0007c0007t0007g0246	8	380	0.0211	-27	c.188 others(46): Show c.1882+3717_1882+3743delATATATATATATTTTTTTTTTTTTTT T		C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
C8orf33_chr8_145047467_145061030	145052242	CCGCCCCG others(20): Show CCGCCCCGCCCGCTCCCCGCCCCGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02896.hp2 others(3): Show HG01884.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0001 a0001c0002t0003g0002 a0001c0001t0001g0001 a0001c0002t0003g0002	6	406	0.0148	-27	c.-24 others(36): Show c.-249_-223delCGCCCCGCCCGCTCCCCGCCCCGCCCG		C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding					224		chr8	TogoVar
C8orf33_chr8_145047467_145061030	145052255	TCCCCGCC others(20): Show TCCCCGCCCCGCCCGCGCCCCGCCCGCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG00099.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	406	0.0049	-27	c.-23 others(36): Show c.-236_-210delCCCCGCCCCGCCCGCGCCCCGCCCGCG		C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding					211		chr8	TogoVar
C8orf33_chr8_145047467_145061030	145052280	GCGCCCCG others(20): Show GCGCCCCGCCCCGCCCGCGCCCCGCCCG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0001 a0002c0003t0002g0001	1	406	0.0025	-27	c.-21 others(36): Show c.-211_-185delCGCCCCGCCCCGCCCGCGCCCCGCCCG		C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding					186		chr8	TogoVar
CA10_chr17_51625320_52163714	51686776	TTGATCAG others(20): Show TTGATCAGTGGATGGCTTCCCCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	156	0.0064	-27	c.466 others(46): Show c.466-33067_466-33041delGTGGATGGGGAAGCCATCCACTGATC A		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8						chr17	TogoVar
CA10_chr17_51625320_52163714	52040295	ATGAGTGC others(20): Show ATGAGTGCTCATGTTTGTTTTCCACTAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG01081.hp1 others(5): Show HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01361.hp1 HG03834.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0002g0013 a0001c0001t0002g0027 others(5): Show a0001c0001t0001g0019 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0029	8	156	0.0513	-27	c.136 others(46): Show c.136+31997_136+32023delCTAGTGGAAAACAAACATGAGCACTC A		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8						chr17	TogoVar
CA3_chr8_85433859_85454040	85434586	GAAGTTTT others(20): Show GAAGTTTTATAAAGTATGCATATTTTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	364	0.0028	-27	c.-43 others(38): Show c.-4323_-4297delAAGTTTTATAAAGTATGCATATTTTAA		CA3	ENSG00000164879.7	transcript	ENST00000285381.3	protein_coding					4272		chr8	TogoVar
CA6_chr1_8940868_8980092	8973757	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19030.hp1 HG02129.hp2 NA19030.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0008c0011 a0002c0001 a0008c0011	a0002c0001t0005 a0008c0011t0001 a0002c0001t0005 a0008c0011t0001	a0002c0001t0005g0237 a0008c0011t0001g0432 a0002c0001t0005g0237 a0008c0011t0001g0432	2	452	0.0044	-27	c.845 others(42): Show c.845-862_845-836delCTTTCTTTCTTTCTTTCTTTCTTTCTT		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
CA8_chr8_60180412_60286400	60247264	AGGATTGT others(20): Show AGGATTGTTACATAGGTATACATATGCC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp2 HG02486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0186 a0001c0002t0004g0190 a0001c0002t0004g0186 a0001c0002t0004g0190	2	344	0.0058	-27	c.418 others(46): Show c.418-14912_418-14886delGGCATATGTATACCTATGTAACAATC C		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	3/8						chr8	TogoVar

Search by Variant

Search

Search Results (Total: 3848 hits)