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
PSMD13_chr11_231976_257984	257913	C C	CTGGCTCA others(43): Show CTGGCTCATCTTGGCTCATCCTGGCCCGTCCTGGCTCATCCTGGCTCATC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01943.hp2 HG02257.hp2 others(10): Show HG01243.hp1 HG01943.hp2 HG02257.hp2 HG02486.hp1 HG02615.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(10): Show a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0166 a0001c0001t0004g0112 a0001c0001t0007g0111 a0001c0001t0007g0113 a0001c0001t0007g0130 a0001c0001t0007g0170 a0001c0001t0007g0171	13	448	0.0290	50	c.53 others(61): Show c.5313_*5314insTGGCTCATCTTGGCTCATCCTGGCCCGTCCTGGC TCATCCTGGCTCATCT		PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding					4930		chr11	TogoVar
PSMD3_chr17_39975807_40002959	39994799	G G	GCACAGGT others(43): Show GCACAGGTTTTCAGGGCTTCCTCCTCTCTCTGGGCCTAAACAGTGATCCC T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	416	0.0024	50	c.982 others(65): Show c.982-154_982-105dupCACAGGTTTTCAGGGCTTCCTCCTCTCTCT GGGCCTAAACAGTGATCCCT		PSMD3	ENSG00000108344.15	transcript	ENST00000264639.9	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
PSPC1_chr13_19697500_19787945	19779545	C C	CGGAGGGA others(43): Show CGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCC G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03831.hp1 HG04184.hp2 others(1): Show HG00642.hp1 HG03831.hp1 HG04184.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0002g0039 others(1): Show a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0002g0039 a0001c0001t0002g0074	4	30	0.1333	50	c.372 others(67): Show c.372+2840_372+2841insCGGACGGGGCGGCTGGCCATGCGGGGGG CTGACCCCCCCCACCTCCCTCC		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779555	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03239.hp1 NA19090.hp2 HG02647.hp2 HG03239.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0231 a0001c0001t0002g0071 a0001c0001t0007g0252 a0001c0001t0001g0231 a0001c0001t0002g0071 a0001c0001t0007g0252	3	253	0.0119	50	c.372 others(67): Show c.372+2830_372+2831insCACCTCCCTCCCGGACGGGGCGGCTGGC CATGCGGGGGGCTGACCCCCCC		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779573	G G	GCATGGCC others(43): Show GCATGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCG C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	256	0.0039	50	c.372 others(67): Show c.372+2812_372+2813insGCGAGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCATG		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PTCD1_chr7_99411739_99443798	99427452	G G	GGCCAGCC others(43): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01496.hp2 HG02145.hp1 HG01258.hp1 HG01496.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0211 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0211	3	378	0.0079	50	c.915 others(67): Show c.915+1601_915+1650dupTGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGC		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding	5/7						chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATGTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0233 a0001c0003t0040g0233	1	180	0.0056	50	c.-20 others(61): Show c.-2010_-2009insAAAAAAAACATATATATATATATATATATATATA TATATATATATATATA		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding					1877		chr7	TogoVar
PTDSS2_chr11_445279_496399	486014	C C	CGTGTGCT others(43): Show CGTGTGCTCACCGTGCGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCG T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02451.hp1 others(2): Show HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02630.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0160 a0001c0001t0004g0161 others(2): Show a0001c0001t0004g0157 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163	5	337	0.0148	50	c.436 others(65): Show c.436-922_436-921insTGCTCACCGTGCGCGCAGGCGAGCGTAAAC AGTGCACGGGCGCGCGTGTG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTEN_chr10_87858625_87976930	87872132	G G	GTCAGCGA others(43): Show GTCAGCGATAAAATGGAATGCCTGGGATTTTTTAAAATTTATTTTATTCA T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0265 a0001c0001t0056g0265	1	320	0.0031	50	c.79+ others(65): Show c.79+7586_79+7635dupCAGCGATAAAATGGAATGCCTGGGATTTTT TAAAATTTATTTTATTCATT		PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PTGES2_chr9_128115693_128132729	128119025	T T	TGGAAGGA others(43): Show TGGAAGGATGGAGGGGTACAGGGATGGAGGGGTGCAGGGATGGGGGACGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	361	0.0028	50	c.21 others(61): Show c.2119_*2120insTCCGTCCCCCATCCCTGCACCCCTCCATCCCTGT ACCCCTCCATCCTTCC		PTGES2	ENSG00000148334.16	transcript	ENST00000338961.11	protein_coding					1667		chr9	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	62	0.0161	50	c.-2+ others(67): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTT		PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4						chr7	TogoVar
PTP4A3_chr8_141387021_141437454	141413859	G G	GAAAGATG others(43): Show GAAAGATGCTGTGTGGACAGGAGGACATGGAGGATTCAGGGCTCATGGTG T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	317	0.0032	50	c.-85 others(69): Show c.-853-7521_-853-7520insTGTGTGGACAGGAGGACATGGAGGAT TCAGGGCTCATGGTGTAAAGATGC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141413859	G G	GAAAGATG others(43): Show GAAAGATGCTGTGTGGACAGGAGGACATGGAGGATTCAGGGCTCTTGGTG T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp1 HG02630.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0289 a0001c0001t0018g0068 a0001c0001t0001g0289 a0001c0001t0018g0068	2	318	0.0063	50	c.-85 others(69): Show c.-853-7521_-853-7520insTGTGTGGACAGGAGGACATGGAGGAT TCAGGGCTCTTGGTGTAAAGATGC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN18_chr2_130351056_130380405	130361504	T T	TTTTCTTT others(43): Show TTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0190 a0002c0002t0033g0190	1	368	0.0027	50	c.414 others(67): Show c.414+1868_414+1917dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT		PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361520	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0105 a0002c0004t0004g0105	1	377	0.0027	50	c.414 others(67): Show c.414+1920_414+1921insTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC		PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361528	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0004 a0009c0012t0004	a0009c0012t0004g0187 a0009c0012t0004g0187	1	364	0.0027	50	c.414 others(67): Show c.414+1920_414+1921insTTTCTTTCTTTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC		PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	58	0.0172	50	c.859 others(67): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	58	0.0172	50	c.859 others(67): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	58	0.0172	50	c.859 others(67): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	58	0.0172	50	c.859 others(67): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(43): Show AGGGCTCATCCCCCCCACCTCCCTCCCGGACGTGGCGGCTGGCCAGGCGG G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0026 a0002c0003t0015g0026	1	95	0.0105	50	c.139 others(69): Show c.139-18432_139-18431insCATCCCCCCCACCTCCCTCCCGGACG TGGCGGCTGGCCAGGCGGGGGGCT		PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844106	A A	ATCCCCCC others(43): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTTA C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	246	0.0041	50	c.139 others(69): Show c.139-18430_139-18429insTCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTTAC		PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26						chr2	TogoVar
PTPN9_chr15_75458251_75584315	75503576	T T	TCCGTCCG others(43): Show TCCGTCCGGGAGGGAGGTGGGGGCGGTCAGCCCCCCACCCGGCCAGCCGC C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	12	0.0833	50	c.968 others(67): Show c.968+2098_968+2099insGGCGGCTGGCCGGGTGGGGGGCTGACCG CCCCCACCTCCCTCCCGGACGG		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPRA_chr20_2868481_3043669	2909859	T T	TTATATAA others(43): Show TTATATAATATAATTAAAATATATTAATTATAATATATAATATATGACAT A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp2 HG02293.hp1 others(6): Show HG00735.hp1 HG02145.hp2 HG02293.hp1 HG02723.hp2 HG02896.hp1 HG03139.hp2 HG03516.hp1 HG03540.hp1 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0007 a0008c0017 a0001c0007 a0008c0017	a0001c0007t0001 a0008c0017t0001 a0001c0007t0001 a0008c0017t0001	a0001c0007t0001g0146 a0001c0007t0001g0147 a0001c0007t0001g0148 others(6): Show a0001c0007t0001g0146 a0001c0007t0001g0147 a0001c0007t0001g0148 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0001g0152 a0001c0007t0001g0154 a0008c0017t0001g0153	9	354	0.0254	50	c.-12 others(71): Show c.-128-13342_-128-13293dupAATATAATTAAAATATATTAATTA TAATATATAATATATGACATATATAT		PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	9998129	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0014 a0001c0013t0012g0014	1	19	0.0526	50	c.-47 others(71): Show c.-472+35588_-472+35589insATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTTTT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45						chr9	TogoVar
PTPRE_chr10_127902103_128090855	128010545	C C	CCTTTTCT others(43): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	52	0.0192	50	c.-8+ others(67): Show c.-8+28298_-8+28299insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTT		PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATGTGTGT G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	34	0.0294	50	c.85+ others(67): Show c.85+58680_85+58681insATATATATATATATATATATATATATAT ATATATATATATATGTGTGTGT		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48049515	T T	TAAAACAA others(43): Show TAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAA C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0014 a0006c0009t0002g0014	1	99	0.0101	50	c.97- others(67): Show c.97-60540_97-60491dupAACAAAACAAAACAAAACAAAACAAAAC AAAACAAAACAAAACAAAACAA		PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRO_chr12_15317508_15603331	15319950	T T	TATATATA others(43): Show TATATATATATATATATATATATATACATATATATATATATATATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	162	0.0062	50	c.-27 others(61): Show c.-2777_-2776insATATATATATATATATATATATATACATATATAT ATATATATATATATAC		PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding					2557		chr12	TogoVar
PTPRT_chr20_42067756_43194906	43175619	A A	ACCTGGCA others(43): Show ACCTGGCAACAGAGCGAGACCCCGGGCTCTGACTGTGCCACTGCACTCCA G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	62	0.0161	50	c.88+ others(67): Show c.88+14026_88+14027insCTGGAGTGCAGTGGCACAGTCAGAGCCC GGGGTCTCGCTCTGTTGCCAGG		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
PWWP2A_chr5_160086339_160124450	160109784	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATAAAATAATATAAT A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp1 HG00673.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0105 a0001c0001t0007g0073 a0001c0001t0001g0105 a0001c0001t0007g0073	2	370	0.0054	50	c.584 others(67): Show c.584+9020_584+9021insTATTATATTATTTTATATATATATATAT ATATATATATATATATATATAT		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1						chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109788	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATAAAATAATATAAT A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	379	0.0026	50	c.584 others(67): Show c.584+9016_584+9017insTATTATATTATTTTATATATATATATAT ATATATATATATATATATATAT		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1						chr5	TogoVar
PXDNL_chr8_51314577_51814445	51428966	A A	ATAGACCC others(43): Show ATAGACCCAAAATTCAACAGTATATAGAAATTCAACAGTATATAGTTCAA T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG00741.hp2 others(73): Show HG00438.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18956.hp1 NA18959.hp2 NA18966.hp2 NA18979.hp2 NA18984.hp1 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19086.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0014 a0017 a0018 a0019 a0020 a0021 a0023 a0026 a0027 a0030 a0031	a0001c0001 a0001c0011 a0001c0032 others(21): Show a0001c0001 a0001c0011 a0001c0032 a0001c0046 a0002c0002 a0002c0021 a0002c0037 a0003c0033 a0004c0004 a0004c0041 a0006c0007 a0007c0006 a0008c0030 a0014c0016 a0017c0017 a0018c0036 a0019c0040 a0020c0038 a0021c0039 a0023c0020 a0026c0019 a0027c0022 a0030c0042 a0031c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0011t0003 a0001c0032t0002 a0001c0046t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0021t0002 a0002c0037t0001 a0003c0033t0001 a0004c0004t0001 a0004c0004t0003 a0004c0041t0001 a0006c0007t0001 a0006c0007t0002 a0007c0006t0001 a0008c0030t0002 a0014c0016t0001 a0017c0017t0001 a0018c0036t0001 a0019c0040t0001 a0020c0038t0002 a0021c0039t0002 a0023c0020t0001 a0026c0019t0001 a0027c0022t0003 a0030c0042t0001 a0031c0031t0002	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 others(73): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0003g0013 a0001c0011t0003g0008 a0001c0032t0002g0106 a0001c0046t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0053 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0002g0103 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0004g0015 a0002c0021t0002g0092 a0002c0037t0001g0087 a0003c0033t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0048 a0004c0004t0001g0049 a0004c0004t0001g0065 a0004c0004t0001g0076 a0004c0004t0003g0001 a0004c0041t0001g0057 a0006c0007t0001g0029 a0006c0007t0001g0031 a0006c0007t0002g0104 a0007c0006t0001g0042 a0007c0006t0001g0043 a0007c0006t0001g0045 a0007c0006t0001g0046 a0008c0030t0002g0105 a0014c0016t0001g0062 a0014c0016t0001g0063 a0017c0017t0001g0054 a0017c0017t0001g0074 a0018c0036t0001g0091 a0019c0040t0001g0060 a0020c0038t0002g0119 a0021c0039t0002g0120 a0023c0020t0001g0084 a0026c0019t0001g0090 a0027c0022t0003g0004 a0030c0042t0001g0044 a0031c0031t0002g0121	76	120	0.6333	50	c.152 others(69): Show c.1526-2209_1526-2208insATTGAACTATATACTGTTGAATTTCT ATATACTGTTGAATTTTGGGTCTA		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	12/22						chr8	TogoVar
PXMP2_chr12_132682587_132709985	132694095	C C	CAGTTAGT others(43): Show CAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTGAGCGCCCTTAGCCAGT T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01168.hp1 others(12): Show HG00280.hp1 HG00639.hp2 HG01168.hp1 HG01169.hp2 HG02027.hp2 HG04204.hp2 NA18942.hp1 NA18955.hp2 NA18977.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0023 a0001c0003t0003g0037 a0001c0003t0003g0038 others(8): Show a0001c0003t0003g0023 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0040 a0001c0003t0003g0128 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0147 a0001c0003t0003g0158 a0001c0008t0003g0050	15	317	0.0473	50	c.237 others(67): Show c.237-1782_237-1781insTAGTGAGCGCCCTTAGCCAGTTAGTGAG CGCCCTTAGCCAGTTAGTTAGT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132705308	C C	CACACACA others(43): Show CACACACACACACACACACACACATATATATGTATATATGTGTCTATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0125 a0001c0002t0002g0125	1	348	0.0029	50	c.62 others(59): Show c.621_*622insACACACACACACACACACACACATATATATGTATAT ATGTGTCTATATAT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding					324		chr12	TogoVar
PXN_chr12_120205447_120270730	120265741	G G	GCCGCCGC others(43): Show GCCGCCGCGCGCGCCCGCGCCCGCGCCCGCCGCGCGCGCCCGCGCCCGCG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 NA18948.hp2 NA18997.hp2 HG02129.hp2 NA18948.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0020 a0001c0001t0001g0198 a0001c0001t0001g0201	3	320	0.0094	50	c.-11 others(59): Show c.-113_-112insGCGCGGGCGCGGGCGCGCGCGGCGGGCGCGGGCGCG GGCGCGCGCGGCGG		PXN	ENSG00000089159.17	transcript	ENST00000637617.2	protein_coding					12		chr12	TogoVar
QRSL1_chr6_106624578_106673417	106652485	A A	ACCCCAGG others(43): Show ACCCCAGGGACTCTACCACAGTACATGAACCTATTAATAAACCATTCATG C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0005 a0007c0010t0005	a0007c0010t0005g0313 a0007c0010t0005g0313	1	420	0.0024	50	c.753 others(57): Show c.753_802dupCCCCAGGGACTCTACCACAGTACATGAACCTATTAATA AACCATTCATGC	p.Leu others(5): Show p.Leu268fs	QRSL1	ENSG00000130348.11	transcript	ENST00000369046.8	protein_coding	7/11	907/4106	803/1587	268/528		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB11FIP1_chr8_37853618_37904497	37894725	T T	TATATATA others(43): Show TATATATATATACATATATATATACATATATATATATACATATATATATA C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 NA19030.hp2 HG02723.hp2 HG03130.hp2 NA19030.hp2	a0018 a0028 a0018 a0028	a0018c0018 a0028c0047 a0018c0018 a0028c0047	a0018c0018t0008 a0028c0047t0008 a0018c0018t0008 a0028c0047t0008	a0018c0018t0008g0123 a0018c0018t0008g0237 a0028c0047t0008g0122 a0018c0018t0008g0123 a0018c0018t0008g0237 a0028c0047t0008g0122	3	260	0.0115	50	c.371 others(67): Show c.371+4345_371+4346insGTATATATATATGTATATATATATATGT ATATATATATGTATATATATAT		RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5						chr8	TogoVar
RAB3GAP1_chr2_135047292_135175710	135078645	G G	GTCCCCTC others(43): Show GTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0011 a0004c0005t0011	a0004c0005t0011g0221 a0004c0005t0011g0222 a0004c0005t0011g0221 a0004c0005t0011g0222	2	196	0.0102	50	c.151 others(69): Show c.151-12307_151-12306insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCT		RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB40B_chr17_82649973_82703698	82671718	C C	CCACTGAC others(43): Show CCACTGACACACCTCACCCCTGTAACTCAAACCACACACACACCCTGTAC T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(59): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01255.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG03017.hp1 HG03139.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18982.hp1 NA19067.hp2 NA19080.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0042 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0005t0048 a0001c0006t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(58): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0003g0006 a0001c0001t0003g0030 a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0082 a0001c0001t0003g0115 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0150 a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0262 a0001c0001t0003g0274 a0001c0001t0003g0296 a0001c0001t0003g0324 a0001c0001t0004g0043 a0001c0001t0005g0141 a0001c0001t0010g0068 a0001c0001t0013g0154 a0001c0001t0013g0175 a0001c0001t0013g0195 a0001c0001t0021g0133 a0001c0001t0021g0237 a0001c0001t0022g0225 a0001c0001t0042g0016 a0001c0001t0046g0236 a0001c0001t0050g0112 a0001c0001t0051g0058 a0001c0005t0048g0084 a0001c0006t0001g0158	62	322	0.1925	50	c.143 others(67): Show c.143-7163_143-7162insAGTACAGGGTGTGTGTGTGGTTTGAGTT ACAGGGGTGAGGTGTGTCAGTG		RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5						chr17	TogoVar
RAB40B_chr17_82649973_82703698	82671881	C C	CCACTGAC others(43): Show CCACTGACACACCTCACCCCTGTAACTCAAACCACACACACACCCTGTAC T	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	197	0.0051	50	c.143 others(67): Show c.143-7326_143-7325insAGTACAGGGTGTGTGTGTGGTTTGAGTT ACAGGGGTGAGGTGTGTCAGTG		RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5						chr17	TogoVar
RAB44_chr6_36692826_36738184	36715102	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG06807.hp2 HG02630.hp2 HG06807.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0004 a0002c0006t0001 a0002c0006t0004	a0002c0006t0001g0059 a0002c0006t0004g0060 a0002c0006t0001g0059 a0002c0006t0004g0060	2	315	0.0063	50	c.320 others(65): Show c.320-361_320-360insATATATATATATATATATATATATATATAT ATATATATATATATATATAT		RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02559.hp1 HG02165.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	2	101	0.0198	50	c.219 others(65): Show c.219-407_219-406insACACACACACACACACACACACACACACAC ACACACACACACACACACAC		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(43): Show TACATACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	100	0.0100	50	c.219 others(65): Show c.219-442_219-441insTACACACACACACACACACACACACACACA CACACACACACACACACACA		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(43): Show TACATACATACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	100	0.0100	50	c.219 others(65): Show c.219-442_219-441insTACATACACACACACACACACACACACACA CACACACACACACACACACA		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(43): Show TACATACATACATATACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	100	0.0100	50	c.219 others(65): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CACACACACACACACACACA		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(43): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	24	0.0417	50	c.496 others(67): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGACTTT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7						chr11	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(43): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	36	0.0278	50	c.-47 others(61): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATATATAT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4656		chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATACACATATA C	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA21309.hp1 HG03471.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0140 a0001c0001t0005g0141	2	178	0.0112	50	c.171 others(71): Show c.1710+21891_1710+21892insTATATATATATATATATATATATA TATATATATATATATACACATATACA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833449	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18957.hp1 NA18983.hp1 others(1): Show HG00323.hp2 NA18957.hp1 NA18983.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0119 a0001c0001t0002g0123 others(1): Show a0001c0001t0002g0086 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0126	4	202	0.0198	50	c.234 others(71): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATATATATA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results