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	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
ATXN7L3B_chr12_74532835_74550430	74533857	AATAAAAA others(24): Show AATAAAAATAAAAAAAAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(28): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01123.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02129.hp1 HG02155.hp1 HG02293.hp1 NA18942.hp1 NA18947.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19076.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	31	366	0.0847	-31	c.-42 others(42): Show c.-4255_-4225delATAAAAATAAAAAAAAAATAAATAAATAAAT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					3977		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63869673	CCTCGGCC others(24): Show CCTCGGCCTCCCAAAGTGCTGGGATTACAGCT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	298	0.0034	-31	c.-11 others(50): Show c.-111+5516_-111+5546delCTCGGCCTCCCAAAGTGCTGGGATTA CAGCT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12						chr3	TogoVar
AUTS2_chr7_69593475_70798506	70043574	TTCCTTCC others(24): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp2 NA19240.hp2 HG02257.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0012 a0001c0004t0013 a0001c0001t0006 a0001c0004t0012 a0001c0004t0013	a0001c0001t0006g0010 a0001c0004t0012g0025 a0001c0004t0013g0024 a0001c0001t0006g0010 a0001c0004t0012g0025 a0001c0004t0013g0024	3	76	0.0395	-31	c.523 others(50): Show c.523-74556_523-74526delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579441	ATATAATA others(24): Show ATATAATATATTATATATTATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG02071.hp2 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0069 a0001c0002t0006g0072 a0001c0002t0002g0069 a0001c0002t0006g0072	2	328	0.0061	-31	c.168 others(48): Show c.1689-773_1689-743delATATATTATATATTATATATAATATATT ATA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678910	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(78): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00738.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19065.hp1 NA19079.hp2 NA19081.hp2 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0075 a0001c0001t0002g0087 a0001c0001t0007g0167	81	435	0.1862	-31	c.287 others(46): Show c.287+678_287+708delCACACACACACACACACACACACACACACA C		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AVP_chr20_3077556_3089724	3081999	GTCCCCAC others(24): Show GTCCCCACCGCCACTACACACGAGCACTGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	466	0.0021	-31	c.60 others(40): Show c.600_*630delAGGCAGTGCTCGTGTGTAGTGGCGGTGGGGA		AVP	ENSG00000101200.5	transcript	ENST00000380293.3	protein_coding					556		chr20	TogoVar
AXIN1_chr16_282440_357723	334333	TACACAGC others(24): Show TACACAGCACCCAGTACCACAACACACCAATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG03209.hp2 others(1): Show HG02145.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0023 a0001c0003 a0001c0012 a0004c0023	a0001c0003t0001 a0001c0012t0040 a0004c0023t0035 a0001c0003t0001 a0001c0012t0040 a0004c0023t0035	a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0012t0040g0067 others(1): Show a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0012t0040g0067 a0004c0023t0035g0068	4	373	0.0107	-31	c.878 others(50): Show c.878+11784_878+11814delTATTGGTGTGTTGTGGTACTGGGTGC TGTGT		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AXIN1_chr16_282440_357723	334457	AATGCAGC others(24): Show AATGCAGCACCCAGTACCACGGCAAGCTAATT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG03209.hp2 others(1): Show HG02145.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0023 a0001c0003 a0001c0012 a0004c0023	a0001c0003t0001 a0001c0012t0040 a0004c0023t0035 a0001c0003t0001 a0001c0012t0040 a0004c0023t0035	a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0012t0040g0067 others(1): Show a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0012t0040g0067 a0004c0023t0035g0068	4	376	0.0106	-31	c.878 others(50): Show c.878+11660_878+11690delAATTAGCTTGCCGTGGTACTGGGTGC TGCAT		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AXIN2_chr17_65523563_65566648	65555493	CTTTAAAA others(24): Show CTTTAAAAGTGACATCCCAACCTGGTTGTCCT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19062.hp2 NA19068.hp1 others(2): Show NA18949.hp1 NA19062.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0002 a0002c0007t0001 a0002c0001t0002 a0002c0007t0001	a0002c0001t0002g0005 a0002c0007t0001g0159 a0002c0001t0002g0005 a0002c0007t0001g0159	5	400	0.0125	-31	c.815 others(48): Show c.815+2282_815+2312delAGGACAACCAGGTTGGGATGTCACTTTT AAA		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	2/10						chr17	TogoVar
AZIN1_chr8_102821308_102869163	102863628	CGCCGCCG others(24): Show CGCCGCCGCCGCCGCCGCCGGGGGCACAGACA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0232 a0001c0002t0005g0232	1	378	0.0026	-31	c.-23 others(48): Show c.-234+148_-234+178delTGTCTGTGCCCCCGGCGGCGGCGGCGGC GGC		AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding	1/11						chr8	TogoVar
BACH1_chr21_29293922_29351148	29340940	TAACACGC others(24): Show TAACACGCACATTCTTGACCTACATCTATTTA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0252 a0001c0001t0037g0252	1	366	0.0027	-31	c.177 others(50): Show c.1777-1456_1777-1426delCACGCACATTCTTGACCTACATCTAT TTAAA		BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
BAG4_chr8_38171855_38218301	38201858	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	296	0.0034	-31	c.379 others(48): Show c.379-5652_379-5622delATATATATATATATATATATATTTTTTT TTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201860	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp2 HG01192.hp2 others(2): Show HG00140.hp2 HG01167.hp2 HG01192.hp2 HG02818.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0055 others(2): Show a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0055 a0001c0001t0002g0066 a0001c0001t0002g0074	5	303	0.0165	-31	c.379 others(48): Show c.379-5650_379-5620delATATATATATATATATATATTTTTTTTT TTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201862	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0064 a0001c0001t0002g0065	2	302	0.0066	-31	c.379 others(48): Show c.379-5648_379-5618delATATATATATATATATATTTTTTTTTTT TTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81406229	GCTCCTGG others(24): Show GCTCCTGGACAGCCTCCTTGAGGGGAGATGGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0015 a0002c0010t0015	a0002c0010t0015g0275 a0002c0010t0015g0275	1	330	0.0030	-31	c.178 others(48): Show c.178+6317_178+6347delTGGACAGCCTCCTTGAGGGGAGATGGCC TCC		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP3_chr16_1328645_1354439	1340017	CAGGTGCA others(24): Show CAGGTGCACACAGACACACGCACACAGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02630.hp2 others(1): Show HG02258.hp1 HG02615.hp2 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0011 a0001c0001t0001g0103 a0001c0001t0001g0104	4	356	0.0112	-31	c.408 others(46): Show c.408+431_408+461delACGCACACAGGCTGTAGGTGCACACAGACA C		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr16	TogoVar
BAIAP3_chr16_1328645_1354439	1340132	GGCACACA others(24): Show GGCACACAGGCTGCAGGTGCACACAGACACAC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0018 a0001c0015t0018	a0001c0015t0018g0042 a0001c0015t0018g0042	1	356	0.0028	-31	c.408 others(46): Show c.408+592_408+622delGCACACAGGCTGCAGGTGCACACAGACACA C		BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88019628	GCGGGATC others(24): Show GCGGGATCTCAGCGTGCGGGGGGCGGGGCGTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0101 a0001c0009t0005g0101	1	281	0.0036	-31	c.895 others(48): Show c.895+1023_895+1053delCCGGGATCTCAGCGTGCGGGGGGCGGGG CGT		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88019707	GGGGGGCG others(24): Show GGGGGGCGGGGCGTGCGGGATCTCAGCGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0119 a0001c0007t0005g0119	1	350	0.0029	-31	c.895 others(48): Show c.895+1044_895+1074delGGCGGGGCGTGCGGGATCTCAGCGTGCA GGG		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BAZ2B_chr2_159313979_159621548	159325041	TATTATAT others(24): Show TATTATATATATATATATATTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03017.hp2 others(3): Show HG01257.hp1 HG01258.hp2 HG03017.hp2 NA18961.hp1 NA18968.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0072 a0001c0001t0002g0156 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0072 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0176 a0001c0001t0002g0210	6	127	0.0472	-31	c.621 others(47): Show c.6210-118_6210-88delTATATATATATAATATATATATATATATA AT		BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36						chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159325062	ATATATAT others(24): Show ATATATATATATATATTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0132	1	214	0.0047	-31	c.621 others(48): Show c.6210-139_6210-109delAATATATATATATATAATATATATATAT ATA		BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36						chr2	TogoVar
BBOX1_chr11_27035815_27132809	27067624	GGAGGCTG others(24): Show GGAGGCTGAGACAGGAGAATTGCTTGAACCCC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00621.hp2 others(86): Show HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp2 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp2 NA18991.hp1 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19075.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0010g0233 a0001c0001t0011g0278 a0001c0001t0012g0230 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0043 a0001c0002t0001g0115 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0229 a0001c0002t0004g0006 a0001c0002t0004g0280 a0001c0002t0004g0281 a0001c0002t0013g0187 a0001c0004t0001g0116 a0001c0004t0001g0189 a0001c0004t0001g0283 a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0001g0286 a0001c0004t0001g0287 a0001c0005t0001g0196	89	316	0.2816	-31	c.334 others(50): Show c.334+10340_334+10370delCGAGGCTGAGACAGGAGAATTGCTTG AACCC		BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
BCAS3_chr17_60672851_61397831	61349444	GGGAAATT others(24): Show GGGAAATTCTGCACTTAGATTATTGGTCCAGT	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	74	0.0135	-31	c.242 others(52): Show c.2426-18852_2426-18822delTGGAAATTCTGCACTTAGATTATT GGTCCAG		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
BCL2L13_chr22_17633757_17735855	17715148	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0237 a0001c0001t0022g0237	1	276	0.0036	-31	c.601 others(50): Show c.601-11527_601-11497delATATATATATATATATATATATTTTT TTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197510653	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0003 a0001c0004t0002g0003	1	318	0.0031	-31	c.12 others(42): Show c.1211_*1241delCTTACACACATGTACACACACACACACACAC		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1211		chr3	TogoVar
BHLHE23_chr20_63000927_63011964	63004937	GCGGACAG others(24): Show GCGGACAGATGGGTCCCCGGGGGCACCCTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	444	0.0023	-31	c.10 others(42): Show c.1081_*1111delGGCAGGGTGCCCCCGGGGACCCATCTGTCCG		BHLHE23	ENSG00000125533.6	transcript	ENST00000612929.2	protein_coding					989		chr20	TogoVar
BICDL1_chr12_119984236_120099494	120094655	GGCCAGGA others(24): Show GGCCAGGAAGGGCATCCTCCCCTGCCCCTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01168.hp1 HG01175.hp2 others(43): Show HG00642.hp2 HG01168.hp1 HG01175.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18956.hp2 NA18992.hp2 NA19005.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 a0001c0003t0008 a0001c0005t0008 a0001c0006t0001 a0001c0007t0008	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(43): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0008g0216 a0001c0001t0009g0005 a0001c0001t0009g0124 a0001c0001t0009g0211 a0001c0001t0010g0288 a0001c0001t0010g0289 a0001c0001t0010g0290 a0001c0001t0010g0291 a0001c0001t0014g0213 a0001c0001t0014g0214 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0245 a0001c0002t0003g0248 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0234 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0249 a0001c0002t0017g0239 a0001c0003t0008g0218 a0001c0003t0008g0219 a0001c0003t0008g0221 a0001c0005t0008g0217 a0001c0005t0008g0220 a0001c0006t0001g0285 a0001c0007t0008g0215	46	294	0.1565	-31	c.14 others(42): Show c.1495_*1525delGCCAGGAAGGGCATCCTCCCCTGCCCCTCCC		BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding					162		chr12	TogoVar
BICRA_chr19_47604134_47708277	47672300	AAGGATGG others(24): Show AAGGATGGGTAGGTAGATGGATGGAAGGATGG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	310	0.0032	-31	c.-5- others(46): Show c.-5-1197_-5-1167delGGTAGATGGATGGAAGGATGGAGGATGGGT A		BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
BIRC2_chr11_102342214_102383670	102342356	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	336	0.0030	-31	c.-62 others(42): Show c.-6277_-6247delTATATATATATATATATATATATATATATAT		BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding					4857		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342356	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	376	0.0027	-31	c.52 others(42): Show c.5255_*5285delTATATATATATATATATATATATATATATAT		BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding					2954		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32369940	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02145.hp1 HG03130.hp2 others(1): Show HG02083.hp2 HG02145.hp1 HG03130.hp2 NA20752.hp2	a0001 a0012 a0001 a0012	a0001c0003 a0012c0036 a0001c0003 a0012c0036	a0001c0003t0001 a0012c0036t0001 a0001c0003t0001 a0012c0036t0001	a0001c0003t0001g0124 a0001c0003t0001g0132 a0001c0003t0001g0148 others(1): Show a0001c0003t0001g0124 a0001c0003t0001g0132 a0001c0003t0001g0148 a0012c0036t0001g0125	4	262	0.0153	-31	c.326 others(48): Show c.326-7646_326-7616delAAAAATATATATATATATATATATATAT ATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369942	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp1 HG01952.hp2 others(15): Show HG00280.hp1 HG01175.hp1 HG01952.hp2 HG02738.hp1 HG03239.hp1 HG03490.hp2 HG04228.hp2 NA18950.hp1 NA18952.hp1 NA18964.hp2 NA19009.hp1 NA19012.hp2 NA19056.hp2 NA19063.hp2 NA19066.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0010 others(1): Show a0001c0003 a0001c0006 a0001c0010 a0001c0013	a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 others(1): Show a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001	a0001c0003t0001g0024 a0001c0003t0001g0038 a0001c0003t0001g0097 others(15): Show a0001c0003t0001g0024 a0001c0003t0001g0038 a0001c0003t0001g0097 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0265 a0001c0006t0001g0002 a0001c0006t0001g0004 a0001c0010t0001g0141 a0001c0013t0001g0152	18	262	0.0687	-31	c.326 others(48): Show c.326-7644_326-7614delAAATATATATATATATATATATATATAT ATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369944	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG01346.hp1 others(8): Show HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG02055.hp1 HG02293.hp2 HG03471.hp2 HG03516.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0001c0008 a0005c0020 a0001c0006 a0001c0008 a0005c0020	a0001c0006t0001 a0001c0008t0001 a0005c0020t0001 a0001c0006t0001 a0001c0008t0001 a0005c0020t0001	a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 others(8): Show a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0010 a0001c0006t0001g0013 a0001c0008t0001g0061 a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0146 a0005c0020t0001g0001	11	258	0.0426	-31	c.326 others(48): Show c.326-7642_326-7612delATATATATATATATATATATATATATAT ATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BLNK_chr10_96184171_96276569	96184253	CCAATTTG others(24): Show CCAATTTGCCAGTCTGTGTCTTTTAATTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0296 a0001c0001t0031g0296	1	320	0.0031	-31	c.76 others(42): Show c.7689_*7719delCCCCAATTAAAAGACACAGACTGGCAAATTG		BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding					4917		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	95049419	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00642.hp1 others(51): Show HG00280.hp1 HG00323.hp1 HG00642.hp1 HG01071.hp1 HG01123.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG03041.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18988.hp2 NA18992.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19062.hp1 NA19070.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0046 a0001c0001t0058 a0001c0002t0020	a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 others(51): Show a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0002g0221 a0001c0001t0004g0063 a0001c0001t0005g0073 a0001c0001t0005g0096 a0001c0001t0005g0132 a0001c0001t0005g0151 a0001c0001t0005g0162 a0001c0001t0005g0168 a0001c0001t0006g0115 a0001c0001t0006g0160 a0001c0001t0006g0170 a0001c0001t0006g0177 a0001c0001t0006g0181 a0001c0001t0008g0019 a0001c0001t0008g0061 a0001c0001t0010g0179 a0001c0001t0012g0040 a0001c0001t0012g0166 a0001c0001t0016g0039 a0001c0001t0022g0038 a0001c0001t0022g0219 a0001c0001t0024g0074 a0001c0001t0026g0082 a0001c0001t0029g0141 a0001c0001t0031g0175 a0001c0001t0046g0001 a0001c0001t0058g0184 a0001c0002t0020g0014	54	57	0.9474	-31	c.-18 others(50): Show c.-18+53306_-18+53336delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMS1_chr10_42777795_42839937	42779433	CCTCCTAG others(24): Show CCTCCTAGTGCACTGCCCCTACACCTCATCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0050 a0001c0004t0003g0050	1	386	0.0026	-31	c.-34 others(42): Show c.-3430_-3400delCTCCTAGTGCACTGCCCCTACACCTCATCAG		BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding					3361		chr10	TogoVar
BNIP1_chr5_173139531_173169387	173148084	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01123.hp2 others(2): Show HG00323.hp2 HG01069.hp1 HG01123.hp2 HG03017.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057	5	233	0.0215	-31	c.177 others(48): Show c.177+1127_177+1157delTATATATATATATATATATATATATATA TAT		BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5						chr5	TogoVar
BPIFB2_chr20_33002704_33028703	33023190	AGACTGGT others(24): Show AGACTGGTAAACTGAGGCCCAGAGAGGCAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0085 a0001c0004t0003g0085	1	386	0.0026	-31	c.133 others(48): Show c.1336-147_1336-117delGGTAAACTGAGGCCCAGAGAGGCAAAGG ACT		BPIFB2	ENSG00000078898.7	transcript	ENST00000170150.4	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424661	TCTTCTTC others(24): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	420	0.0024	-31	c.121 others(50): Show c.1218-5288_1218-5258delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAG		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BRCA1_chr17_43039295_43130364	43124023	GGACACTC others(24): Show GGACACTCTAAGATTTTCTGCATAGCATTAAT	G G	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0002 a0018c0028t0002	a0018c0028t0002g0100 a0018c0028t0002g0100	1	274	0.0036	-31	c.43_ others(36): Show c.43_73delATTAATGCTATGCAGAAAATCTTAGAGTGTC	p.Ile others(4): Show p.Ile15fs	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	2/23	186/7088	43/5592	15/1863			chr17	TogoVar
BRCA2_chr13_32310508_32405268	32386567	AAAAACCA others(24): Show AAAAACCATTTGTATGAAGCAGAAAAAAAATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00597.hp1 others(101): Show HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG02055.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp1	a0001 a0007 a0012 others(5): Show a0001 a0007 a0012 a0015 a0017 a0019 a0023 a0025	a0001c0001 a0007c0008 a0012c0020 others(5): Show a0001c0001 a0007c0008 a0012c0020 a0015c0022 a0017c0026 a0019c0044 a0023c0027 a0025c0029	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0007c0008t0001 a0007c0008t0009 a0012c0020t0001 a0015c0022t0001 a0015c0022t0022 a0017c0026t0001 a0019c0044t0001 a0023c0027t0013 a0025c0029t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0278 a0001c0001t0008g0290 a0001c0001t0008g0291 a0001c0001t0008g0293 a0001c0001t0008g0347 a0001c0001t0008g0361 a0001c0001t0009g0061 a0001c0001t0009g0066 a0001c0001t0009g0067 a0001c0001t0009g0068 a0001c0001t0009g0069 a0001c0001t0009g0139 a0001c0001t0009g0292 a0001c0001t0013g0062 a0001c0001t0013g0187 a0001c0001t0013g0188 a0001c0001t0013g0250 a0001c0001t0013g0256 a0007c0008t0001g0001 a0007c0008t0001g0245 a0007c0008t0001g0246 a0007c0008t0001g0251 a0007c0008t0001g0253 a0007c0008t0009g0004 a0012c0020t0001g0366 a0012c0020t0001g0367 a0015c0022t0001g0228 a0015c0022t0022g0229 a0017c0026t0001g0001 a0019c0044t0001g0254 a0023c0027t0013g0205 a0025c0029t0001g0263	104	396	0.2626	-31	c.925 others(50): Show c.9256+6423_9256+6453delAAAACCATTTGTATGAAGCAGAAAAA AAATG		BRCA2	ENSG00000139618.18	transcript	ENST00000380152.8	protein_coding	24/26						chr13	TogoVar
BRCC3_chrX_155066508_155128077	155126252	AGACCTAG others(24): Show AGACCTAGCAAGGGCATTTCTAGGTGTATATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	252	0.0040	-31	c.50 others(42): Show c.5049_*5079delGACCTAGCAAGGGCATTTCTAGGTGTATATC		BRCC3	ENSG00000185515.16	transcript	ENST00000330045.12	protein_coding					3176		chrX	TogoVar
BRD3_chr9_134025305_134073026	134066716	CCCAATTA others(24): Show CCCAATTACTCTGCCCACCAATGCACTACAGT	C C	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0272 a0001c0002t0008g0272	1	332	0.0030	-31	c.-11 others(50): Show c.-114+1198_-114+1228delACTGTAGTGCATTGGTGGGCAGAGTA ATTGG		BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding	1/11						chr9	TogoVar
BRD9_chr5_858741_897801	882947	AACCACAA others(24): Show AACCACAACCTCCCAACACACAAGCCACGCAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG02723.hp2 others(4): Show HG01261.hp2 HG01884.hp1 HG02723.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0008 a0002c0003t0012 a0002c0012t0008 a0002c0003t0008 a0002c0003t0012 a0002c0012t0008	a0002c0003t0008g0183 a0002c0003t0008g0184 a0002c0003t0008g0185 others(4): Show a0002c0003t0008g0183 a0002c0003t0008g0184 a0002c0003t0008g0185 a0002c0003t0008g0186 a0002c0003t0012g0065 a0002c0003t0012g0066 a0002c0012t0008g0182	7	362	0.0193	-31	c.966 others(46): Show c.966+960_966+990delCTGCGTGGCTTGTGTGTTGGGAGGTTGTGG T		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding	8/15						chr5	TogoVar
BRDT_chr1_91944401_92019421	91962144	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02486.hp1 others(1): Show HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0037 a0005c0005t0002g0038 a0005c0005t0002g0064 others(1): Show a0005c0005t0002g0037 a0005c0005t0002g0038 a0005c0005t0002g0064 a0005c0005t0002g0065	4	20	0.2000	-31	c.-37 others(46): Show c.-37-556_-37-526delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
BRINP1_chr9_119161629_119374435	119206110	TATCCTCT others(24): Show TATCCTCTTAAGAGAGGATATTAGCACAGGGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	234	0.0043	-31	c.114 others(50): Show c.1145+2578_1145+2608delGCCCTGTGCTAATATCCTCTCTTAAG AGGAT		BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	7/7						chr9	TogoVar
BRIP1_chr17_61674139_61868528	61787118	TAATATAT others(24): Show TAATATATTATATACTATATAAAATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00673.hp2 others(48): Show HG00140.hp1 HG00438.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01934.hp1 HG01978.hp2 HG02132.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02630.hp1 HG02698.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18951.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18973.hp2 NA18982.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp2 NA19067.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0006c0012 a0009c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0056 a0002c0002t0009 a0002c0002t0010 a0002c0003t0003 a0002c0003t0046 a0006c0012t0001 a0009c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(47): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0006g0149 a0001c0001t0006g0156 a0001c0001t0006g0171 a0001c0001t0006g0180 a0001c0001t0012g0001 a0001c0001t0012g0016 a0001c0001t0012g0033 a0001c0001t0018g0009 a0001c0001t0018g0011 a0001c0001t0018g0119 a0001c0001t0025g0067 a0001c0001t0025g0106 a0001c0001t0035g0124 a0001c0001t0036g0142 a0001c0001t0056g0168 a0002c0002t0009g0034 a0002c0002t0010g0126 a0002c0003t0003g0262 a0002c0003t0046g0146 a0006c0012t0001g0020 a0009c0013t0001g0125	51	243	0.2099	-31	c.147 others(50): Show c.1474-2725_1474-2695delTTTATATATTTTATATAGTATATAAT ATATT		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19						chr17	TogoVar
BRSK2_chr11_1384934_1467689	1438027	ATCCCCCA others(24): Show ATCCCCCACAGCTGGCACCAAAGGCCCCTGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01123.hp2 others(31): Show HG00639.hp2 HG01069.hp1 HG01123.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02273.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03041.hp2 HG03654.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18939.hp2 NA18940.hp1 NA18963.hp2 NA18964.hp1 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0028 a0001c0001t0048 a0001c0001t0057 a0001c0001t0065 a0001c0001t0074 a0001c0001t0078 a0001c0003t0003 a0001c0015t0018 a0002c0002t0002	a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 others(31): Show a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0157 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0003g0228 a0001c0001t0004g0163 a0001c0001t0004g0171 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0186 a0001c0001t0004g0189 a0001c0001t0004g0311 a0001c0001t0004g0313 a0001c0001t0006g0213 a0001c0001t0006g0222 a0001c0001t0006g0236 a0001c0001t0006g0245 a0001c0001t0006g0248 a0001c0001t0009g0180 a0001c0001t0028g0329 a0001c0001t0028g0330 a0001c0001t0048g0339 a0001c0001t0057g0184 a0001c0001t0065g0253 a0001c0001t0074g0208 a0001c0001t0078g0204 a0001c0003t0003g0288 a0001c0015t0018g0185 a0002c0002t0002g0084 a0002c0002t0002g0315	34	325	0.1046	-31	c.187 others(46): Show c.187-154_187-124delTCCCCCACAGCTGGCACCAAAGGCCCCTGC G		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1438152	TCCCCCAC others(24): Show TCCCCCACAGCTGGCACCAAAGGCCCCTGCGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0327 a0002c0002t0015g0327	1	356	0.0028	-31	c.187 others(44): Show c.187-99_187-69delCCCTGCGACCCCCACAGCTGGCACCAAAGGC		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39217052	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02148.hp2 HG03490.hp2 others(4): Show HG01071.hp1 HG02148.hp2 HG03490.hp2 HG03834.hp1 HG04199.hp2 NA19078.hp1 NA19087.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0026 a0001c0001 a0013c0026	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0018 a0013c0026t0004	a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0041 others(4): Show a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0004g0261 a0001c0001t0013g0176 a0001c0001t0018g0045 a0013c0026t0004g0282	7	331	0.0211	-31	c.365 others(50): Show c.3659+1069_3659+1099delTATATATATATATATATATATATATA TATAT		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40						chr21	TogoVar

Search by Variant

Search

Search Results