Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GPBP1_chr5_57169059_57269673	57249873	C C	CCCTTCCC others(17): Show CCCTTCCCCCTCCCCTCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	290	0.0035	24	c.972 others(39): Show c.972+297_972+298insCCTTCCCCCTCCCCTCCTTCCCCT	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11			chr5	TogoVar
GPC1_chr2_240430663_240473076	240463238	T T	TCCCCTGA others(17): Show TCCCCTGACTTCCCTCCAGAGCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0303 a0001c0004t0004g0303	1	398	0.0025	24	c.718 others(38): Show c.718-107_718-84dupCCCTGACTTCCCTCCAGAGCCCCC	GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC2_chr7_100164606_100182381	100171137	T T	TTGAATGA others(17): Show TTGAATGAATTAGTGAATTAATCAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0078 a0006c0013t0001g0078	1	400	0.0025	24	c.148 others(41): Show c.1486+100_1486+123dupTTGATTAATTCACTAATTCATTCA	GPC2	ENSG00000213420.8	transcript	ENST00000292377.4	protein_coding	9/9			chr7	TogoVar
GPC2_chr7_100164606_100182381	100172647	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(55): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01099.hp2 HG01192.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03831.hp1 HG03834.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18981.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp2 NA19003.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19081.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0008 a0005c0009 a0001c0001 a0003c0008 a0005c0009	a0001c0001t0001 a0001c0001t0005 a0003c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0003c0008t0001 a0005c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0053 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0005g0019 a0003c0008t0001g0063 a0005c0009t0001g0064	58	400	0.1450	24	c.893 others(39): Show c.893-431_893-430insCATATATATATATACACACACACA	GPC2	ENSG00000213420.8	transcript	ENST00000292377.4	protein_coding	5/9			chr7	TogoVar
GPC2_chr7_100164606_100182381	100172647	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19065.hp2 NA19005.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	400	0.0050	24	c.893 others(39): Show c.893-431_893-430insCATATATATATACACACACACACA	GPC2	ENSG00000213420.8	transcript	ENST00000292377.4	protein_coding	5/9			chr7	TogoVar
GPC3_chrX_133530745_133990594	133855530	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19004.hp1 HG01943.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0085 a0001c0001t0001g0049 a0001c0001t0001g0085	2	152	0.0132	24	c.337 others(43): Show c.337+97519_337+97520insATATATATATATATATATATATAT	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	2/7			chrX	TogoVar
GPC4_chrX_133295103_133420489	133303903	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19064.hp2 HG02145.hp1 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0158 a0002c0002t0002g0184 a0002c0002t0002g0158 a0002c0002t0002g0184	2	221	0.0091	24	c.129 others(41): Show c.1293-586_1293-563dupTCCTTCCTTCCTTCCTTCCTTCCT	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	7/8			chrX	TogoVar
GPC5_chr13_91393621_92872237	91571823	A A	ATATACAC others(17): Show ATATACACACACATATACGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0028 a0004c0006t0001g0028	1	42	0.0238	24	c.326 others(45): Show c.326-121360_326-121359insCACACACATATACGTGTGTGTATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92064759	A A	AAAACAAA others(17): Show AAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	42	0.0238	24	c.140 others(45): Show c.1402-80068_1402-80067insCAAAACAAAACAAAACAAAACAAA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92257546	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	42	0.0238	24	c.156 others(47): Show c.1561+112578_1561+112579insTTTTTTTTTTTTTTTTTTTTTT TT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92398428	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp1 HG03579.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0042 a0002c0002t0002g0015 a0001c0001t0002g0042 a0002c0002t0002g0015	2	42	0.0476	24	c.156 others(47): Show c.1561+253461_1561+253462insAAAAAAAAAAAAAAAAAAAAAA AA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92663653	T T	TATATATA others(17): Show TATATATATATACTATATATATACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp1 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0002g0037 a0001c0001t0001g0033 a0001c0001t0002g0037	2	42	0.0476	24	c.156 others(47): Show c.1562-202628_1562-202605dupATATATATATACTATATATATA CA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92692754	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	42	0.0238	24	c.156 others(47): Show c.1562-173506_1562-173505insTTTTTTTTTTTTTTTTTTTTTT TT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93368323	C C	CCCTGCTT others(17): Show CCCTGCTTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0030 a0001c0001t0013g0030	1	76	0.0132	24	c.160 others(45): Show c.160+140710_160+140711insGCTTTCCTTCCTTCCTTCCTTCCT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93368390	G G	GTCCTTCC others(17): Show GTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	76	0.0132	24	c.160 others(45): Show c.160+140778_160+140801dupTTCCTTCCTTCCTTCCTTCCTTCC	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93561404	G G	GAGATATA others(17): Show GAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	76	0.0132	24	c.319 others(43): Show c.319+15984_319+15985insGATATATATATATATATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93561404	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 NA19043.hp2 others(1): Show HG02895.hp1 HG02922.hp2 NA19043.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 others(1): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0025	a0001c0001t0004g0042 a0001c0001t0013g0055 a0001c0001t0017g0056 others(1): Show a0001c0001t0004g0042 a0001c0001t0013g0055 a0001c0001t0017g0056 a0001c0001t0025g0066	4	76	0.0526	24	c.319 others(43): Show c.319+16005_319+16006insATATATATATATATATATATATAT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93789607	A A	ATAATACT others(17): Show ATAATACTACATATATATATAATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01074.hp2 HG01243.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0014 a0001c0001t0001 a0002c0002t0014	a0001c0001t0001g0043 a0002c0002t0014g0022 a0001c0001t0001g0043 a0002c0002t0014g0022	2	76	0.0263	24	c.320 others(43): Show c.320-40545_320-40544insATACTACATATATATATAATACTA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93832120	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	76	0.0132	24	c.711 others(41): Show c.711+1576_711+1577insTATATATATATATATATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93832122	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	76	0.0132	24	c.711 others(41): Show c.711+1578_711+1579insAAAAAATATATATATATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93832122	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0003 a0001c0001t0012g0003	1	76	0.0132	24	c.711 others(41): Show c.711+1578_711+1579insAATATATATATATATATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93832122	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	76	0.0132	24	c.711 others(41): Show c.711+1600_711+1601insTATATATATATATATATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93895222	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG03017.hp2 HG01884.hp1 HG02895.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0025 a0001c0001t0003 a0001c0001t0016 a0001c0001t0025	a0001c0001t0003g0065 a0001c0001t0016g0018 a0001c0001t0025g0066 a0001c0001t0003g0065 a0001c0001t0016g0018 a0001c0001t0025g0066	3	76	0.0395	24	c.711 others(43): Show c.711+64690_711+64691insGTGTGTGTGTGTGTGTGTGTGTGT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	94034200	A A	AGAAAGAA others(17): Show AGAAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp2 NA19012.hp2 HG02258.hp1 HG03209.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0026 a0002c0002t0002 a0001c0001t0001 a0001c0003t0026 a0002c0002t0002	a0001c0001t0001g0075 a0001c0003t0026g0006 a0002c0002t0002g0049 a0001c0001t0001g0075 a0001c0003t0026g0006 a0002c0002t0002g0049	3	76	0.0395	24	c.877 others(41): Show c.877+6309_877+6310insAGAAGGAAGGAAGGAAGGAAGGAA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	94096999	T T	TACCTATT others(17): Show TACCTATTATGATAAATAGGTTAAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp1 HG02922.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0069 a0001c0001t0005g0062 a0001c0001t0001g0069 a0001c0001t0005g0062	2	76	0.0263	24	c.877 others(43): Show c.877+69129_877+69152dupCACCTATTATGATAAATAGGTTAA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPCPD1_chr20_5539439_5616006	5604774	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	386	0.0026	24	c.-28 others(39): Show c.-28-358_-28-335dupGTGTGTGTGTGTGTGTGTGTGTGT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	1/19			chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5615194	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0022 a0001c0001t0037g0022	1	386	0.0026	24	c.-43 others(35): Show c.-4382_-4381insATATATATATATATATATATATAT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		4189		chr20	TogoVar
GPD1L_chr3_32101620_32173709	32106540	T T	TCCTGCCC others(17): Show TCCTGCCCCGCTGTCAGCTGCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	360	0.0028	24	c.-17 others(33): Show c.-172_-171insCCTGCCCCGCTGTCAGCTGCGGCC	GPD1L	ENSG00000152642.11	transcript	ENST00000282541.10	protein_coding		79		chr3	TogoVar
GPD2_chr2_156431379_156591403	156439849	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0158 a0003c0003t0005g0158	1	254	0.0039	24	c.-9+ others(39): Show c.-9+3340_-9+3363dupTAAATAAATAAATAAATAAATAAA	GPD2	ENSG00000115159.17	transcript	ENST00000438166.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPHN_chr14_66503147_67186803	66639121	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02280.hp2 HG02970.hp2 HG01081.hp1 HG02280.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0123 a0001c0001t0001g0154 a0001c0001t0001g0155	3	234	0.0128	24	c.65- others(41): Show c.65-41970_65-41969insATATATATATATATATATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66840970	G G	GATAGATA others(17): Show GATAGATATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	234	0.0043	24	c.294 others(43): Show c.294+16445_294+16468dupATATAGATATAGATATAGATATAG	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67036501	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01943.hp2 NA18960.hp2 others(1): Show HG00735.hp2 HG01943.hp2 NA18960.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0210	4	234	0.0171	24	c.100 others(45): Show c.1006+12843_1006+12866dupCACACACACACACACACACACACA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02132.hp2 HG03098.hp2 others(4): Show HG02080.hp2 HG02132.hp2 HG03098.hp2 NA18964.hp2 NA18970.hp2 NA18999.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0176 a0001c0001t0001g0177 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195	7	234	0.0299	24	c.114 others(45): Show c.1144+11930_1144+11931insAAAAAAAAAATATATATATATATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG01928.hp1 others(8): Show HG00408.hp1 HG00735.hp1 HG01928.hp1 HG02148.hp2 HG02300.hp2 HG02723.hp1 HG03831.hp1 NA18973.hp2 NA18983.hp1 NA18986.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0160 a0001c0001t0001g0191 others(8): Show a0001c0001t0001g0104 a0001c0001t0001g0160 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225	11	234	0.0470	24	c.114 others(45): Show c.1144+11930_1144+11931insAAAAAAAATATATATATATATATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18991.hp1 NA18995.hp2 others(3): Show NA18955.hp1 NA18991.hp1 NA18995.hp2 NA19005.hp2 NA19065.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0106 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0106 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0211	6	234	0.0256	24	c.114 others(45): Show c.1144+11930_1144+11931insAAAAAATATATATATATATATATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02738.hp1 HG03195.hp2 others(2): Show HG02165.hp2 HG02738.hp1 HG03195.hp2 NA18946.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0107 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0107 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0007g0231	5	234	0.0214	24	c.114 others(45): Show c.1144+11930_1144+11931insAAAATATATATATATATATATATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67144240	A A	AATATATA others(17): Show AATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	234	0.0043	24	c.183 others(41): Show c.1836+792_1836+793insTATATATATATATATGTATATATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67144286	T T	TACATATA others(17): Show TACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	234	0.0043	24	c.183 others(41): Show c.1836+840_1836+841insTATATATATATATATATATACACA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPI_chr19_34360196_34407413	34377334	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0217 a0001c0001t0011g0217	1	314	0.0032	24	c.403 others(39): Show c.403-168_403-167insTATATATATATATATATATATATA	GPI	ENSG00000105220.17	transcript	ENST00000356487.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPKOW_chrX_49108407_49128735	49128406	G G	GTTTTGTT others(17): Show GTTTTGTTTTTGTTTTTGTTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	276	0.0036	24	c.-46 others(35): Show c.-4685_-4684insACAAAAACAAAAACAAAAACAAAA	GPKOW	ENSG00000068394.11	transcript	ENST00000156109.7	protein_coding		4672		chrX	TogoVar
GPLD1_chr6_24420832_24494578	24435824	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02300.hp1 HG02572.hp2 HG02148.hp1 HG02300.hp1 HG02572.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0012 a0001c0004t0081 a0003c0003t0005 a0001c0004t0012 a0001c0004t0081 a0003c0003t0005	a0001c0004t0012g0176 a0001c0004t0081g0175 a0003c0003t0005g0039 a0001c0004t0012g0176 a0001c0004t0081g0175 a0003c0003t0005g0039	3	358	0.0084	24	c.235 others(41): Show c.2358+751_2358+752insTTTTTTTTTTTTTTTTTTTTTTTT	GPLD1	ENSG00000112293.15	transcript	ENST00000230036.2	protein_coding	22/24			chr6	TogoVar
GPLD1_chr6_24420832_24494578	24435836	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0064 a0019c0022t0064	a0019c0022t0064g0011 a0019c0022t0064g0011	1	358	0.0028	24	c.235 others(41): Show c.2358+739_2358+740insATTTTTTTTTTTTTTTTTTTTTTT	GPLD1	ENSG00000112293.15	transcript	ENST00000230036.2	protein_coding	22/24			chr6	TogoVar
GPM6A_chr4_175627937_175817264	175668519	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01168.hp1 others(11): Show HG01070.hp1 HG01109.hp1 HG01168.hp1 HG01261.hp2 HG01975.hp2 HG01981.hp1 HG02293.hp1 HG02683.hp1 HG02895.hp2 HG02897.hp2 NA18944.hp1 NA18949.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0041 a0001c0001t0001g0223 a0001c0001t0001g0249 others(11): Show a0001c0001t0001g0041 a0001c0001t0001g0223 a0001c0001t0001g0249 a0001c0001t0001g0263 a0001c0001t0002g0101 a0001c0001t0002g0188 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0049 a0001c0001t0003g0070 a0001c0001t0003g0163 a0001c0001t0003g0227 a0001c0001t0005g0265 a0001c0001t0007g0008	14	270	0.0519	24	c.387 others(41): Show c.387+5160_387+5161insCACACACACACACACACACACACA	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	3/6			chr4	TogoVar
GPM6A_chr4_175627937_175817264	175721148	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	270	0.0037	24	c.38- others(41): Show c.38-19382_38-19381insATATATATATATATATATATATAT	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	1/6			chr4	TogoVar
GPN3_chr12_110447486_110473257	110450831	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA19002.hp2 NA20905.hp2 NA18973.hp1 NA19002.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0109	3	324	0.0093	24	c.22 others(35): Show c.2202_*2203insTTTTTTTTTTTTTTTTTTTTTTTT	GPN3	ENSG00000111231.9	transcript	ENST00000228827.8	protein_coding		1654		chr12	TogoVar
GPN3_chr12_110447486_110473257	110463606	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	324	0.0031	24	c.157 others(41): Show c.157+1476_157+1499dupTTTTTTTTTTTTTTTTTTTTTTTT	GPN3	ENSG00000111231.9	transcript	ENST00000228827.8	protein_coding	2/7			chr12	TogoVar
GPNMB_chr7_23241775_23280108	23275421	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	380	0.0026	24	c.11 others(35): Show c.1197_*1198insATATATATATATATATATATATAC	GPNMB	ENSG00000136235.17	transcript	ENST00000258733.9	protein_coding		314		chr7	TogoVar
GPR107_chr9_130048906_130145164	130087805	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	306	0.0033	24	c.621 others(41): Show c.621+1349_621+1350insAAAAAAAAAAAAAAAAAAAAAAAA	GPR107	ENSG00000148358.21	transcript	ENST00000347136.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
GPR137B_chr1_236137539_236213907	236169172	C C	CTGCAGGT others(17): Show CTGCAGGTGCAGGTGCAGGTGCAGG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	386	0.0026	24	c.464 others(39): Show c.464+437_464+460dupGCAGGTGCAGGTGCAGGTGCAGGT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR137B_chr1_236137539_236213907	236178785	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03209.hp1 HG02698.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0229 a0001c0001t0001g0057 a0001c0001t0001g0229	2	386	0.0052	24	c.687 others(39): Show c.687+156_687+179dupTTTTTTTTTTTTTTTTTTTTTTTT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results