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
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(222): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	237	0.0042	229	c.537 others(246): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC G	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(222): Show AGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01993.hp1 HG02615.hp1 others(4): Show HG01934.hp1 HG01993.hp1 HG02615.hp1 HG03486.hp2 HG03942.hp1 NA18947.hp1 NA19078.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0007c0010t0001 a0001c0001t0001 a0001c0001t0002 a0007c0010t0001	a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0156 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0156 a0001c0001t0001g0190 a0001c0001t0002g0185 a0001c0001t0002g0202 a0007c0010t0001g0207	7	237	0.0295	229	c.537 others(246): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC C	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(222): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG04115.hp1 HG02027.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0123 a0001c0001t0007g0010 a0001c0001t0001g0123 a0001c0001t0007g0010	2	237	0.0084	229	c.537 others(246): Show c.537+2599_537+2600insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC C	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(222): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	237	0.0042	229	c.537 others(246): Show c.537+2599_537+2600insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC C	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(222): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	237	0.0042	229	c.537 others(246): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC C	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(222): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	237	0.0042	229	c.537 others(246): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC C	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(222): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01106.hp1 others(8): Show HG00408.hp1 HG00735.hp2 HG01106.hp1 HG01169.hp1 HG01433.hp1 HG02698.hp1 HG03831.hp1 NA18980.hp1 NA18991.hp2 NA19083.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0153 a0001c0001t0001g0209 a0001c0001t0001g0217 others(8): Show a0001c0001t0001g0153 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0002g0043 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0170 a0001c0001t0003g0118 a0001c0001t0010g0024	11	237	0.0464	229	c.537 others(246): Show c.537+2599_537+2600insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC C	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PJA2_chr5_109329722_109414974	109354509	T T	TATAGATT others(222): Show TATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATA TCTATAGATTGGATATCTATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTCGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0117 a0003c0003t0002g0117	1	346	0.0029	229	c.176 others(248): Show c.1764+1405_1764+1406insCTCTAGATATCATAGATATCTAATCT ATAGATATCTCTAGATATCATAGATATCGAATCTATAGATATCTCTAGAT ATCATAGATATCTAATCTATAGATATCTCTAGATATAGATATCCAATCTA TAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATA TCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATC TAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(222): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02698.hp2 HG01496.hp2 HG02698.hp2	a0003 a0004 a0003 a0004	a0003c0016 a0004c0008 a0003c0016 a0004c0008	a0003c0016t0001 a0004c0008t0003 a0003c0016t0001 a0004c0008t0003	a0003c0016t0001g0027 a0004c0008t0003g0003 a0003c0016t0001g0027 a0004c0008t0003g0003	2	134	0.0149	229	c.575 others(250): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCT CTGTACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PNMA5_chrX_152983824_152999116	152998672	A A	AAATATAT others(222): Show AAATATATATAATATATATTATATATATTATATATAAAATATATATAATA TATATTATATATATTTATATAAAATATATATAATATATATTATATATTAT ATATAAAATATATATAAATATATATTATATATATTATATATAAAATATAT ATAAATAATATATATTATATATTATATATTATATAATATATAATATATAA TATATATTATTTATATAATATAAGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA18998.hp1 NA19063.hp1 others(1): Show HG03831.hp2 NA18998.hp1 NA19063.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	4	286	0.0140	229	c.-49 others(240): Show c.-4970_-4969insATATATCTTATATTATATAAATAATATATATTAT ATATTATATATTATATAATATATAATATATAATATATATTATTTATATAT ATTTTATATATAATATATATAATATATATTTATATATATTTTATATATAA TATATAATATATATTATATATATTTTATATAAATATATATAATATATATT ATATATATTTTATATATAATATATATAATATATATTATATATATT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4557		chrX	TogoVar
PPARGC1B_chr5_149725310_149860022	149809297	G G	GATAGATA others(222): Show GATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAG ATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGATAGA TCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGATAGATAGAT AGATAGATCGATCGATCCATCTCTACCATAGATAGATAGATAGATAGATA GATAGATAGATAGATAGATCCATCTCTACC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0061 a0017c0021t0061	a0017c0021t0061g0311 a0017c0021t0061g0311	1	320	0.0031	229	c.79- others(246): Show c.79-11118_79-11117insCCATCTCTACCATAGATAGATAGATAGA TAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGAT AGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGATAGATA GATAGATAGATCGATCGATCCATCTCTACCATAGATAGATAGATAGATAG ATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGA T	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(222): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0034 a0001c0001t0036g0034	1	252	0.0040	229	c.139 others(248): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843916	C C	CGGGCGGG others(222): Show CGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	252	0.0040	229	c.139 others(248): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCGGGG CGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTGA others(222): Show AGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCAGGCGGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	252	0.0040	229	c.139 others(248): Show c.139-18423_139-18422insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGG CGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCC CCC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRG_chr3_61556571_62302609	61671759	G G	GGGCAGGG others(222): Show GGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 NA18522.hp2 others(2): Show HG02965.hp2 HG03139.hp1 NA18522.hp2 NA19030.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0002 a0001c0001t0001 a0001c0001t0002 a0004c0006t0002	a0001c0001t0001g0034 a0001c0001t0002g0010 a0001c0001t0002g0089 others(2): Show a0001c0001t0001g0034 a0001c0001t0002g0010 a0001c0001t0002g0089 a0004c0006t0002g0081 a0004c0006t0002g0088	5	94	0.0532	229	c.86- others(246): Show c.86-77116_86-77115insAGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGG C	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61671759	G G	GGGCGGGG others(222): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0066 a0001c0016t0001g0059 a0001c0001t0001g0066 a0001c0016t0001g0059	2	94	0.0213	229	c.86- others(246): Show c.86-77067_86-77066insGGCGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG C	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61671807	C C	CGGGCGGC others(222): Show CGGGCGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0068 a0001c0008t0005g0068	1	94	0.0106	229	c.86- others(246): Show c.86-77067_86-77066insGGCGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCTGGG C	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(222): Show TCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTC TGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTC CCCTCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCC CCTCCCCCTCCCTCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02647.hp2 HG02922.hp2 others(1): Show HG00735.hp1 HG02647.hp2 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0005t0017	a0001c0001t0001g0001 a0001c0001t0002g0091 a0001c0005t0001g0014 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0091 a0001c0005t0001g0014 a0001c0005t0017g0038	4	94	0.0426	229	c.191 others(250): Show c.191-103924_191-103923insCCCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCT CCTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCC CCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCC CTCCCCTCCCCCTCCCTCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTC CTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB11FIP3_chr16_420649_528011	504397	C C	CCCTCACC others(222): Show CCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCT CCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCA CCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCCTCACCTCCTCCTGTACCCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0136 a0001c0001t0015g0136	1	295	0.0034	229	c.139 others(248): Show c.1396-1118_1396-1117insCTCCTGTACCCCCTCACCTCCTCCTG CACTCCCATCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGC CTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCT CACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTG CACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCAC CTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(222): Show GTACCACCTCCTCCTGTACCCCCTCACCACCTCTTGCACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0187 a0001c0001t0006g0187	1	295	0.0034	229	c.139 others(248): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CACCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(222): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(72): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01496.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02083.hp2 HG02132.hp1 HG02273.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp2 NA19007.hp2 NA19012.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19088.hp2 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0031 a0001c0001t0048 a0001c0001t0049 a0001c0001t0061 a0007c0015t0020	a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0001g0073 others(72): Show a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0003g0192 a0001c0001t0005g0105 a0001c0001t0006g0151 a0001c0001t0006g0243 a0001c0001t0006g0273 a0001c0001t0010g0032 a0001c0001t0010g0188 a0001c0001t0010g0195 a0001c0001t0010g0217 a0001c0001t0010g0222 a0001c0001t0012g0104 a0001c0001t0012g0189 a0001c0001t0012g0226 a0001c0001t0012g0276 a0001c0001t0012g0280 a0001c0001t0012g0282 a0001c0001t0016g0011 a0001c0001t0020g0236 a0001c0001t0020g0247 a0001c0001t0023g0036 a0001c0001t0023g0103 a0001c0001t0027g0163 a0001c0001t0031g0166 a0001c0001t0048g0050 a0001c0001t0049g0219 a0001c0001t0061g0241 a0007c0015t0020g0199	75	295	0.2542	229	c.139 others(248): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(222): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGTACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 NA18983.hp2 others(2): Show HG00423.hp1 HG00597.hp1 NA18983.hp2 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0204 a0001c0001t0001g0240 a0001c0001t0001g0245 others(2): Show a0001c0001t0001g0204 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0263 a0001c0001t0010g0233	5	295	0.0170	229	c.139 others(248): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGTACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RASA3_chr13_113972783_114137623	114053109	C C	CGCTGACT others(222): Show CGCTGACTGTACTTAAAGTCCTTGCTCCCGGAGGAGAGGCCCCTGCTGCT GACTGCCCAGCCGCCCTTGCTCCTGGGGGAGAGGACCCCTCTGCTGACTG TGCTTAGAGTCCTGGCTCCTGGGGAAGAGACCCCCTCTGCTGACTGTGCT TAGAGTCCTGGCTCCTGGGGGAGAGACCCCCGCTGCTGACTGTACTTAGA GTCCTCACTACTGGGGGAGAGGCCCCCGCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0010 a0002c0004t0009g0010	1	67	0.0149	229	c.174 others(244): Show c.174-955_174-954insAGCGGGGGCCTCTCCCCCAGTAGTGAGGAC TCTAAGTACAGTCAGCAGCGGGGGTCTCTCCCCCAGGAGCCAGGACTCTA AGCACAGTCAGCAGAGGGGGTCTCTTCCCCAGGAGCCAGGACTCTAAGCA CAGTCAGCAGAGGGGTCCTCTCCCCCAGGAGCAAGGGCGGCTGGGCAGTC AGCAGCAGGGGCCTCTCCTCCGGGAGCAAGGACTTTAAGTACAGTCAGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RB1_chr13_48298751_48486890	48459951	T T	TTCTTTCC others(222): Show TTCTTTCCTTTCTTTCTTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCCTTTCTTCCTTTCCTTTCTTCCTTTCTTCCTT TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTC TTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTT CCTTTCTTCCTTTCTTCCTTTCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	306	0.0033	229	c.210 others(246): Show c.2106+119_2106+120insCTTTCCTTTCTTTCTTTCCTTCCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTCCTTT CCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTT TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTC T	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48459951	T T	TTCTTTCT others(222): Show TTCTTTCTTTCTTTCCTTTCTTTCTTTCCTTCCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTCCTTTCCTTTCTTCCTT TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTC TTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTT CCTTTCTTCCTTTCTTCCTTTCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	306	0.0033	229	c.210 others(246): Show c.2106+119_2106+120insCTTTCTTTCTTTCCTTTCTTTCTTTCCT TCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTT CTTCCTTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTT TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTC T	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(222): Show GCCCACCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCC ATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCATCCCCCGTCCC CCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCA TCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCATCCCCCCACCCCCATCC CCCACCCCCCACCCATCCCCCAGCCCCACC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0359 a0001c0001t0010g0359	1	452	0.0022	229	c.757 others(244): Show c.757-202_757-201insCCCCATCCCCCGTCCCCCGTCCCCCATCTC CTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCAC CCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCC GTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCATC CCCCCACCCCCATCCCCCACCCCCCACCCATCCCCCAGCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505294	C C	CCCTCTCC others(222): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	396	0.0025	229	c.-73 others(238): Show c.-731_-730insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		242		chr14	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(222): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATAATATAATAT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATTATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	229	c.-31 others(240): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAT ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATTATATAATATATTATATATTATATTATATTATATATTATATATTA TATATTATATTATATATTATATATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(222): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATAATATAATAT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATGTAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATTATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02976.hp1 HG02622.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	432	0.0046	229	c.-31 others(240): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATTATATAATATATTATATATTATATTATATTATATATTATATATTA TATATTATATTATATATTATATATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(222): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATTATATAATAT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATTATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	432	0.0046	229	c.-31 others(240): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAT ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATAATATAATATATTATATATTATATTATATTATATATTATATATTA TATATTATATTATATATTATATATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(222): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCG CGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0237 a0001c0003t0002g0237	1	376	0.0027	229	c.-58 others(236): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCC CACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
SBNO2_chr19_1102638_1179268	1166045	T T	TCCCAGAT others(222): Show TCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTCAGACCCCCAGA CCCCAGATCCCAGACCCCAGACCTCAGACCCCCAGATCCCAGACCCCAGA TCACCGGATCTCAGACCCCAGACCCCAGATCCCAGACTTCAGATCCCTAG ACCTCAGACCCCAGACCCCAGACCCCAAACCTCAGACCCCAGATCCCAGA CCTCAGACCCCAGACCCCAGACTTCAGATC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	203	0.0049	229	c.-12 others(248): Show c.-127+8126_-127+8127insGATCTGAAGTCTGGGGTCTGGGGTCT GAGGTCTGGGATCTGGGGTCTGAGGTTTGGGGTCTGGGGTCTGGGGTCTG AGGTCTAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCCG GTGATCTGGGGTCTGGGATCTGGGGGTCTGAGGTCTGGGGTCTGGGATCT GGGGTCTGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCT GGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCX_chr8_144261453_144273481	144262844	A A	ACCCCTCA others(222): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCA CCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGG GTACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCC CACCCCTCACCTGCAGGGTGCACTGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	229	c.-37 others(240): Show c.-3770_-3769insCCCCTCACCTGCAGGGTGCACCGCCCCCCCCCAC CCCTCACCTGCAGGGTACACCGCCCCCCCCCCACCCCTCACCTGCAGGGT GCACCGCCCCCCCCACCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCA CCCCTCACCTGCAGGGTACACCGCCCCCCCCCACCCCTCACCTGCAGGGT ACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACTGCCCCC	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3608		chr8	TogoVar
SGCZ_chr8_14079845_15243431	15119560	A A	AATTTTCT others(222): Show AATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0102 a0001c0001t0091g0102	1	102	0.0098	229	c.39+ others(248): Show c.39+118024_39+118025insCAGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA AAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(222): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0064 a0001c0001t0009g0064	1	214	0.0047	229	c.691 others(248): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC35F3_chr1_233899676_234329511	234140002	A A	AATAAAAT others(222): Show AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAAAAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	158	0.0063	229	c.284 others(248): Show c.284-91415_284-91414insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA AAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7			chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414408	T T	TGGAGGGT others(222): Show TGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC ACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGAAGGGAAGGCACTGGGTGGGGGGCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0035 a0001c0002t0013 a0001c0002t0035	a0001c0002t0013g0016 a0001c0002t0035g0017 a0001c0002t0013g0016 a0001c0002t0035g0017	2	373	0.0054	229	c.115 others(246): Show c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCTTCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCCT GCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTC C	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(222): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT TCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	410	0.0024	229	c.152 others(246): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGA GAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SMYD3_chr1_245744347_246512279	246072010	G G	GTTAGTTC others(222): Show GTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCT GCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTG TGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTT TCCACTGTGCTCACTGTCTTTGCATCCTGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0114 a0002c0003t0002g0114	1	150	0.0067	229	c.532 others(250): Show c.532-142074_532-142073insACAGGATGCAAAGACAGTGAGCAC AGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAG TGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCA TCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACA CGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGA ACTAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1344406	T T	TCCCCCTG others(222): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTCGCACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTA GGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTCGCACTTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0088 a0004c0004t0001g0088	1	190	0.0053	229	c.148 others(250): Show c.1489-22933_1489-22932insCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGG CGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTT CCCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345309	C C	CTTTTCCC others(222): Show CTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTC TGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTCGCACT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02293.hp1 HG02071.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0174 a0002c0003t0001g0158 a0002c0003t0001g0174	2	190	0.0105	229	c.148 others(250): Show c.1489-22031_1489-22030insTCCCCCTGTTCTGGGCGCGCCTGG CCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTT CTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCA CTTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7448843	T T	TCTCCCTC others(222): Show TCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCTCC CTTCCTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTC CCTTCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGT CTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCTCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02451.hp1 HG02451.hp2 others(6): Show HG01981.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02970.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0053 a0002c0004 a0003c0012 a0006c0021 a0008c0052	a0001c0001t0004 a0001c0001t0018 a0001c0003t0015 others(6): Show a0001c0001t0004 a0001c0001t0018 a0001c0003t0015 a0001c0005t0004 a0001c0053t0001 a0002c0004t0012 a0003c0012t0055 a0006c0021t0070 a0008c0052t0004	a0001c0001t0004g0138 a0001c0001t0018g0011 a0001c0003t0015g0034 others(6): Show a0001c0001t0004g0138 a0001c0001t0018g0011 a0001c0003t0015g0034 a0001c0005t0004g0101 a0001c0053t0001g0044 a0002c0004t0012g0035 a0003c0012t0055g0033 a0006c0021t0070g0103 a0008c0052t0004g0030	9	168	0.0536	229	c.548 others(248): Show c.548+52490_548+52491insCCCTCCCTCCCTCCCTCCCTTCCTCT TTTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCTTTTC CCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTT TCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTC CCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPACA6_chr19_51688330_51710190	51704885	A A	AGCCCCTC others(222): Show AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTCCTTCCACCC GCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTAAGACCCAGGAG TCCAGGCCCCCAGCCCCCTCTCCCTCAGACCCAGGTTTCCATCCAGGCCC CGGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCTCC CTCAGACCCAGGTTTCCATCCAGGCCCCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	416	0.0024	229	c.942 others(244): Show c.942-188_942-187insCCCAGGAGTCCAGGCCCCCAGTCCTTCCAC CCGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTAAGACCCAGG AGTCCAGGCCCCCAGCCCCCTCTCCCTCAGACCCAGGTTTCCATCCAGGC CCCGGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCT CCCTCAGACCCAGGTTTCCATCCAGGCCCCTGGCCCCTCCTCCCTCAGA	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPACA6_chr19_51688330_51710190	51704885	A A	AGCCCCTC others(222): Show AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTCCTTCCACCC GCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCCCCCAGCCCCCTCTCCCTCAGACCCAGGTTTCCATCCAGGCCC CGGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCTCC CTCAGACCCAGGTTTCCATCCAGGCCCCTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG00741.hp1 others(37): Show HG00558.hp2 HG00733.hp2 HG00741.hp1 HG01192.hp1 HG01496.hp2 HG01884.hp2 HG02027.hp1 HG02071.hp1 HG02165.hp1 HG02257.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03098.hp2 HG03453.hp2 HG03579.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18945.hp2 NA18947.hp1 NA18964.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA19007.hp1 NA19030.hp2 NA19056.hp2 NA19077.hp1 NA19078.hp2 NA19083.hp1 NA20300.hp2 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0001 a0001c0001t0001 a0007c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0035 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0007c0006t0001g0004	40	416	0.0962	229	c.942 others(244): Show c.942-188_942-187insCCCAGGAGTCCAGGCCCCCAGTCCTTCCAC CCGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGGCCCCCAGCCCCCTCTCCCTCAGACCCAGGTTTCCATCCAGGC CCCGGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCT CCCTCAGACCCAGGTTTCCATCCAGGCCCCTGGCCCCTCCTCCCTCAGA	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(222): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	418	0.0048	229	c.54 others(240): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SYK_chr9_90796819_90903549	90884826	T T	TATATACA others(222): Show TATATACATATATACACATATGTGTACATATGTGTATATATACATATATA TACACATATATATGTATATATACACATATGTGAATATGTATATATGTGTT ATATATACACATATGTGTATATGTATATATACATATATACACATATGTGT ATATATACACATATACATATACACATATGTGTATATATAACACATATATA CACATGTGTATATATAACACATATATACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01361.hp1 HG02735.hp2 HG01081.hp1 HG01361.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0031 a0001c0004t0032 a0001c0001t0002 a0001c0004t0031 a0001c0004t0032	a0001c0001t0002g0136 a0001c0004t0031g0331 a0001c0004t0032g0265 a0001c0001t0002g0136 a0001c0004t0031g0331 a0001c0004t0032g0265	3	376	0.0080	229	c.158 others(248): Show c.1582-2921_1582-2920insATACATATATACACATATGTGTACAT ATGTGTATATATACATATATATACACATATATATGTATATATACACATAT GTGAATATGTATATATGTGTTATATATACACATATGTGTATATGTATATA TACATATATACACATATGTGTATATATACACATATACATATACACATATG TGTATATATAACACATATATACACATGTGTATATATAACACATATATACA CAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCAC others(222): Show GTATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGT ATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGTAT GCACATATACACATATATACACATATGTGTACATATGTGTATATATACAT ATATATACACATATATATGTATATATACACATATGTGAATATGTATATAT GTGTTATATATACACATATGTGTATATGTA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	376	0.0027	229	c.158 others(248): Show c.1582-2913_1582-2912insGCACATATACACATATGTGTGTATGC ACATATACACATATGTGTGTATGCACATATACACATATGTGTGTATGCAC ATATACACATATGTGTGTATGCACATATACACATATATACACATATGTGT ACATATGTGTATATATACATATATATACACATATATATGTATATATACAC ATATGTGAATATGTATATATGTGTTATATATACACATATGTGTATATGTA TAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCAC others(222): Show GTATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGT ATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGTAT GCACATATATACATATATACACATATGTGTACATATGTGTATATATACAT ATATATACACATATATATGTATATATACACATATGTGAATATGTATATAT GTGTTATATATACACATATGTGTATATGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG03130.hp1 others(3): Show HG02055.hp2 HG02965.hp2 HG03130.hp1 NA18986.hp2 NA19001.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0005t0004 a0001c0005t0068	a0001c0001t0006g0243 a0001c0001t0007g0111 a0001c0001t0007g0112 others(3): Show a0001c0001t0006g0243 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0017g0113 a0001c0005t0004g0237 a0001c0005t0068g0248	6	376	0.0160	229	c.158 others(248): Show c.1582-2913_1582-2912insGCACATATACACATATGTGTGTATGC ACATATACACATATGTGTGTATGCACATATACACATATGTGTGTATGCAC ATATACACATATGTGTGTATGCACATATATACATATATACACATATGTGT ACATATGTGTATATATACATATATATACACATATATATGTATATATACAC ATATGTGAATATGTATATATGTGTTATATATACACATATGTGTATATGTA TAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCAC others(222): Show GTATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGT ATGCACATATACACATATGTGTTTATGCACATATACACATATGTGTGTAT GCACATATATACATATATACACATATGTGTACATATGTGTATATATACAT ATATATACACATATATATGTATATATACACATATGTGAATATGTATATAT GTGTTATATATACACATATGTGTATATGTA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0135 a0001c0001t0017g0135	1	376	0.0027	229	c.158 others(248): Show c.1582-2913_1582-2912insGCACATATACACATATGTGTGTATGC ACATATACACATATGTGTGTATGCACATATACACATATGTGTTTATGCAC ATATACACATATGTGTGTATGCACATATATACATATATACACATATGTGT ACATATGTGTATATATACATATATATACACATATATATGTATATATACAC ATATGTGAATATGTATATATGTGTTATATATACACATATGTGTATATGTA TAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCGC others(222): Show GTATGCGCATATACACATATGTGTGTATGCGCATATACACATATGTGTGT ATGCGCATATACACATATGTGTGTATGCACATATACACATATGTGTGTAT GCACATATATACATATATACACATATGTGTACATATGTGTATATATACAT ATATATACACATATATATGTATATATACACATATGTGAATATGTATATAT GTGTTATATATACACATATGTGTATATGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0183 a0001c0001t0006g0183	1	376	0.0027	229	c.158 others(248): Show c.1582-2913_1582-2912insGCGCATATACACATATGTGTGTATGC GCATATACACATATGTGTGTATGCGCATATACACATATGTGTGTATGCAC ATATACACATATGTGTGTATGCACATATATACATATATACACATATGTGT ACATATGTGTATATATACATATATATACACATATATATGTATATATACAC ATATGTGAATATGTATATATGTGTTATATATACACATATGTGTATATGTA TAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results