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
GPSM2_chr1_108871985_108939545	108930496	TCCTGTAA others(124): Show TCCTGTAATCCCAGCACATTGGGAGGCTGAGGCAGGAGGATCGCTTGAGG CTAGGAGTTCAAGACCAACCTGGGCAACATAGACCCCCGTGTCTATGAAA AATAAATCAGCAGCCAGGCGCAGTGGCTCACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0050 a0004c0013t0050	a0004c0013t0050g0056 a0004c0013t0050g0056	1	260	0.0039	-131	c.57 others(9): Show c.573_*703del	GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding	15/15	573	INFO_REALIGN_3_PRIME	chr1	TogoVar
GRK5_chr10_119202571_119464745	119287268	AGGAGGAA others(124): Show AGGAGGAAGGGAGGGAGAGAAGAAAGAGGGAAGAAAGGAAGGGAGGGAGA GAGGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGGAG AGAGGGAGGGAGGAAGGAAGGGAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp2 HG01978.hp1 others(8): Show HG00140.hp1 HG01074.hp2 HG01978.hp1 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02155.hp2 HG04228.hp1 NA18944.hp2 NA19070.hp2 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0002 a0001c0001 a0001c0010 a0003c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0010t0002 a0003c0002t0003 a0003c0002t0031	a0001c0001t0001g0031 a0001c0001t0001g0194 a0001c0001t0005g0007 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0194 a0001c0001t0005g0007 a0001c0001t0006g0085 a0001c0001t0012g0030 a0001c0010t0002g0047 a0003c0002t0003g0002 a0003c0002t0003g0050 a0003c0002t0003g0172 a0003c0002t0003g0198 a0003c0002t0031g0003	11	202	0.0545	-131	c.53- others(17): Show c.53-39240_53-39110del	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP6_chrX_299759_323796	321493	GCCGGGCG others(124): Show GCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAG GTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATG GTAAGACCCCATTATCTACAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0028 a0001c0003t0003g0028	1	155	0.0065	-131	c.-28 others(11): Show c.-2837_-2707del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2698		chrX	TogoVar
ISOC2_chr19_55447985_55466642	55450285	CCAGAGAG others(124): Show CCAGAGAGAGGGGACAGAGACTCAGAGAGACAGGGGGACAGGGACCCAGA GAGATGGGGGACAGAGACCCAGAGAGAGGGGGACAGAGACCCAGAGACGG GGACAGAGACCCAGAGAGAGGGGACAGAGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp1 others(58): Show HG00408.hp2 HG00438.hp1 HG00621.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01192.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18971.hp1 NA18975.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0006c0007 others(1): Show a0001c0001 a0001c0002 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 others(19): Show a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0049 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0098 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0112 a0001c0002t0001g0138 a0001c0002t0001g0148 a0001c0002t0005g0027 a0001c0002t0005g0073 a0006c0007t0001g0088 a0007c0006t0001g0087	61	380	0.1605	-131	c.28 others(11): Show c.2892_*3022del	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		2699		chr19	TogoVar
ITIH5_chr10_7554270_7671966	7593693	CTCATCCC others(124): Show CTCATCCCTGCAGCCTGCAGCCACCCAGCCCCACTCACCCCTGCAGACTG CAGCCACCCAGCCCCACTCATCCCTACAGACTGCAGCCACCTCCTCCACT AACTCCTGCAGACTGCAGCCACCCAACCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0213 a0003c0002t0001g0213	1	342	0.0029	-131	c.940 others(17): Show c.940-7755_940-7625del	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
KIF5C_chr2_148870227_149031759	148881719	CTAAATCA others(124): Show CTAAATCATCGTGGTGATTTAGAGGGTGAACTCACTGGAATGGGGATGCT TGCATGTGTAATCTTACTAAGAGCTAATAGAAAGGCTAGGACCAAACCTA TTTGTTTATGGGGTGATGTGAGCCCGTCTAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02451.hp2 others(5): Show HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02965.hp1 HG03453.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0013 a0001c0003t0007	a0001c0001t0002g0147 a0001c0001t0005g0146 a0001c0001t0006g0141 others(5): Show a0001c0001t0002g0147 a0001c0001t0005g0146 a0001c0001t0006g0141 a0001c0002t0013g0148 a0001c0003t0007g0145 a0001c0003t0007g0149 a0001c0003t0007g0150 a0001c0003t0007g0151	8	178	0.0449	-131	c.126 others(17): Show c.126+5977_126+6107del	KIF5C	ENSG00000168280.18	transcript	ENST00000435030.6	protein_coding	1/25			chr2	TogoVar
KLHL25_chr15_85754326_85799925	85794825	GAGCTCAA others(124): Show GAGCTCAACAGGCTCCGCCGCGGCTCCCGTCGGCCGGCTCTCCACAGGCA AAAACGCTCTCGCTGCGATACAGCCTAGGCGCCGCCAACAAACTAGTTTC TCCGGCCTTCCCGCCCCGCCTCCCGGCCCGAA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0032 a0002c0003t0032	a0002c0003t0032g0042 a0002c0003t0032g0042	1	406	0.0025	-131	c.-20 others(8): Show c.-201_-71del	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding	1/3	25016		chr15	TogoVar
KNDC1_chr10_133155219_133231412	133208402	CCCAACCC others(124): Show CCCAACCCCGTTACCCCAAGGACCCTCTAGAGAGGGATGTGGCCCCCCCA ACCCCGTTACCCCAAGGACCCTCTAGAGAGGGACGTGGGCCCCCAACCCC GTTACCCCAAGGACCCTCTAGAGAGGGACGTG	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18961.hp2 NA18946.hp2 NA18961.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0053 a0004c0007t0002g0054 a0004c0007t0002g0053 a0004c0007t0002g0054	2	332	0.0060	-131	c.379 others(19): Show c.3794+1052_3794+1182del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	20/29			chr10	TogoVar
LSM8_chr7_118179164_118209035	118182193	TATTAATT others(124): Show TATTAATTTAATGACAACTACACAGGGCAATAGACTTACAAAAGCACACT CTAAGGGATGAAAAGCCATAGGGAGTATTCATTTTTTTTTTTTTTTTTTG AGATGGAGTATCGCTCTGTCGCCCAGGCTGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG02280.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0026 a0001c0001t0030g0026	2	414	0.0048	-131	c.-20 others(11): Show c.-2030_-1900del	LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding		1970		chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19452220	GAAGAGAA others(124): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02129.hp1 HG03486.hp2 others(3): Show HG01361.hp1 HG02129.hp1 HG03486.hp2 HG03490.hp1 HG03710.hp1 NA18953.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0002g0066 others(3): Show a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0002g0066 a0001c0001t0012g0001 a0002c0002t0001g0064 a0002c0002t0002g0027	6	163	0.0368	-131	c.995 others(17): Show c.995+4562_995+4692del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP4K4_chr2_101692707_101899690	101837117	AAACAGTT others(124): Show AAACAGTTCTTACTAGTTTTCCAATTGATGCTGCCTCCTCTTAGGTTCTT GACTCTCCTTCTGAAATATGCAGGACATCTCAGAGTTAAGCTTCCATTCT GAGTTTGGCCTTCAGCTGTTCCTGTTTATGCT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0280 a0001c0002t0019g0280	1	310	0.0032	-131	c.773 others(17): Show c.773+1140_773+1270del	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	9/32			chr2	TogoVar
MELK_chr9_36567895_36682682	36614973	GTGGCCGG others(124): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp2 HG02280.hp2 others(9): Show HG01175.hp1 HG01884.hp2 HG02280.hp2 HG02486.hp1 NA18959.hp1 NA18967.hp1 NA18980.hp2 NA18983.hp1 NA18989.hp1 NA19067.hp1 NA19083.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0001 a0001c0002t0002g0177 a0001c0002t0002g0195 others(9): Show a0001c0002t0002g0001 a0001c0002t0002g0177 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0007g0176	12	242	0.0496	-131	c.666 others(17): Show c.666+7376_666+7506del	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
MFRP_chr11_119333942_119351705	119340275	ATGGTGGC others(124): Show ATGGTGGCCCGGCGTGCCTGGAAGGCCGGGGTGCCCCGGGCAGAGGCTGG GGATCTTGTTGTCGTCCAGTGGGGGCGAGCCGGCCGCCAGGCCCAGGAGC AGCAGGACGAGGAGTGGCCTCATAGCGCTGGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0144 a0002c0002t0022g0144	1	318	0.0031	-131	c.88 others(10): Show c.888_*1018del	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding	14/15	1142		chr11	TogoVar
MSLN_chr16_755734_773862	767655	GAGGGGGG others(124): Show GAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGTG TGGGGGGGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0088 a0002c0003t0001g0088	1	388	0.0026	-131	c.159 others(17): Show c.1596+186_1596+316del	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MYDGF_chr19_4652545_4675342	4663434	TCCTCATT others(124): Show TCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTC TACAGCCTCCAACCTGTGCACTCTCCACCCACCCCATCCTCATTCTACAC AGCCTCCAATCTATCCTCCCCACCCACCCCAC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02683.hp2 NA18957.hp1 others(1): Show HG02523.hp2 HG02683.hp2 NA18957.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0244 a0001c0001t0001g0245 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0273	4	410	0.0098	-131	c.287 others(17): Show c.287+1311_287+1441del	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085806	CCCCCACA others(124): Show CCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCCCCCCACTGTCGTGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0114 a0003c0001t0001g0114	1	403	0.0025	-131	c.164 others(17): Show c.1644+423_1644+553del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085827	CGTGGCCC others(124): Show CGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03516.hp1 NA18906.hp1 HG01255.hp2 HG03516.hp1 NA18906.hp1	a0002 a0032 a0002 a0032	a0002c0105 a0002c0122 a0032c0054 a0002c0105 a0002c0122 a0032c0054	a0002c0105t0001 a0002c0122t0001 a0032c0054t0001 a0002c0105t0001 a0002c0122t0001 a0032c0054t0001	a0002c0105t0001g0341 a0002c0122t0001g0193 a0032c0054t0001g0066 a0002c0105t0001g0341 a0002c0122t0001g0193 a0032c0054t0001g0066	3	403	0.0074	-131	c.164 others(17): Show c.1644+446_1644+576del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086072	CCCCTACT others(124): Show CCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTG TGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCACTGTCATGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0020 a0020	a0020c0211 a0020c0211	a0020c0211t0002 a0020c0211t0002	a0020c0211t0002g0087 a0020c0211t0002g0087	1	403	0.0025	-131	c.164 others(17): Show c.1644+686_1644+816del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158667304	CCCTTAGC others(124): Show CCCTTAGCCGCTACTGTGTCCCTCCGCTACTGTGTCCCTCCGCTCCTTAG CCACTACCGGATCCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	378	0.0027	-131	c.148 others(19): Show c.1480-2685_1480-2555del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCOR2_chr12_124319415_124572612	124373213	ACCCGGGC others(124): Show ACCCGGGCACAGTGGACAATGAGGCCAGTGCGTGTGCAGGGGACCCGGGC ACAGTGGACAATCATGAGGCCAGTGCGTGTGCAGGGGCCCGGGCACAGTG GACAATCATGAGGCCAGTGCGTGTGCAGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02723.hp1 others(5): Show HG01884.hp1 HG02630.hp1 HG02723.hp1 HG02976.hp1 HG03041.hp2 HG03579.hp1 NA19043.hp1 NA21309.hp1	a0002 a0010 a0019 a0002 a0010 a0019	a0002c0001 a0002c0017 a0002c0115 others(3): Show a0002c0001 a0002c0017 a0002c0115 a0002c0118 a0010c0063 a0019c0135	a0002c0001t0003 a0002c0001t0010 a0002c0001t0080 others(5): Show a0002c0001t0003 a0002c0001t0010 a0002c0001t0080 a0002c0017t0070 a0002c0115t0007 a0002c0118t0005 a0010c0063t0036 a0019c0135t0005	a0002c0001t0003g0173 a0002c0001t0010g0204 a0002c0001t0080g0232 others(5): Show a0002c0001t0003g0173 a0002c0001t0010g0204 a0002c0001t0080g0232 a0002c0017t0070g0113 a0002c0115t0007g0167 a0002c0118t0005g0149 a0010c0063t0036g0115 a0019c0135t0005g0138	8	234	0.0342	-131	c.221 others(17): Show c.2219-734_2219-604del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
NF1_chr17_31089977_31382675	31292449	GTTAGCAG others(124): Show GTTAGCAGACCCCTGTGTATACCAAAATTTGCGCATATTCAAATCCCAAA ATCGGCCCTGTGGAACGTGCTTCCTTGTGGAACCTATTTATACAGTATGT GGGTTTCACATCCCACAAATACTGTGCTTTCA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18968.hp1 NA18612.hp2 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0203 a0001c0002t0002g0182 a0001c0002t0002g0203	2	252	0.0079	-131	c.483 others(21): Show c.4835+27111_4835+27241del	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	36/57			chr17	TogoVar
NLRP8_chr19_55942832_55993629	55993476	CCTCCCTC others(124): Show CCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTCC CCTCCTCTCCTCCCCCCTCCTCCTCTCAACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01981.hp2 HG02071.hp2 others(7): Show HG01243.hp1 HG01981.hp2 HG02071.hp2 HG02148.hp1 HG02572.hp1 HG02683.hp2 HG03471.hp1 HG04228.hp1 NA18944.hp1 NA20300.hp2	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0003c0004 a0016c0036	a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 others(6): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 a0001c0002t0002 a0001c0008t0001 a0001c0008t0005 a0001c0008t0009 a0003c0004t0052 a0016c0036t0012	a0001c0001t0005g0089 a0001c0001t0009g0085 a0001c0001t0009g0090 others(7): Show a0001c0001t0005g0089 a0001c0001t0009g0085 a0001c0001t0009g0090 a0001c0001t0020g0063 a0001c0002t0002g0129 a0001c0008t0001g0271 a0001c0008t0005g0268 a0001c0008t0009g0303 a0003c0004t0052g0236 a0016c0036t0012g0194	10	350	0.0286	-131	c.55 others(11): Show c.5564_*5694del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4848		chr19	TogoVar
OMG_chr17_31289647_31302239	31292449	GTTAGCAG others(124): Show GTTAGCAGACCCCTGTGTATACCAAAATTTGCGCATATTCAAATCCCAAA ATCGGCCCTGTGGAACGTGCTTCCTTGTGGAACCTATTTATACAGTATGT GGGTTTCACATCCCACAAATACTGTGCTTTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18968.hp2 NA18612.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	364	0.0055	-131	c.24 others(11): Show c.2429_*2559del	OMG	ENSG00000126861.5	transcript	ENST00000247271.5	protein_coding		2197		chr17	TogoVar
OPCML_chr11_132409981_133537501	133458450	ATATATAC others(124): Show ATATATACACATATATACACGTGTGTGTATATACACATATATACACGTGT GTGTGTATATACACATATATACACTGTGTGTGTATACACATATATACACG TGTGTGTGTATACACATATATACACGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0068 a0001c0001t0012g0068	1	68	0.0147	-131	c.61+ others(17): Show c.61+73683_61+73813del	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR10A2_chr11_6858057_6879717	6878780	TTCACAAT others(124): Show TTCACAATAGCAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGAC TGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGCAGGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0033 a0002c0003t0003g0033	1	468	0.0021	-131	c.81 others(11): Show c.8115_*8245del	OR10A2	ENSG00000170790.6	transcript	ENST00000641461.1	protein_coding		4064		chr11	TogoVar
PAGE1_chrX_49682447_49700984	49689812	ATACACAC others(124): Show ATACACACATATATGTGTATATATGTGTGTATATACACACATATATAGGT GTGTATATATGTGTATATACACACATATATAGGTGTATATATATGTGTAT ATACACACATATATAGGGTGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18747.hp1 NA18946.hp2 others(14): Show HG01993.hp2 NA18747.hp1 NA18946.hp2 NA18949.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18984.hp1 NA18992.hp2 NA19001.hp2 NA19003.hp1 NA19006.hp1 NA19056.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0045	17	322	0.0528	-131	c.293 others(15): Show c.293-400_293-270del	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAQR5_chr15_69293912_69412780	69300569	TTCTCTTT others(124): Show TTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCAT TCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19240.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0244 a0001c0001t0006g0245	2	284	0.0070	-131	c.-27 others(19): Show c.-277+1534_-277+1664del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300618	TTTCTTTC others(124): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCA TTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19043.hp1 HG03130.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0037 a0001c0001t0001g0038	2	284	0.0070	-131	c.-27 others(19): Show c.-277+1571_-277+1701del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDZRN3_chr3_73377431_73629941	73498608	GGAGTCTA others(124): Show GGAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAATGACACAATCTCGGCT CACTGCAACCTACGCCTCCTGGGTTCAAGCGATTCTCCTGCCCCAGCCTC CTGAGTAGCTGAGATTACAGGCACACGCCACC	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0125 a0002c0003t0001g0125	1	216	0.0046	-131	c.919 others(19): Show c.919-94344_919-94214del	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41402329	CTGTGTGT others(124): Show CTGTGTGTATATATATATATACACACAGTGTGTATATATATATATACACA CACTGTGTATATATATATATACACACAGTGTGTATATATATATATACACA CACAGTGTATATATATATATATACACACTCTG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0014 a0014	a0014c0058 a0014c0058	a0014c0058t0001 a0014c0058t0001	a0014c0058t0001g0173 a0014c0058t0001g0173	1	206	0.0049	-131	c.844 others(21): Show c.844-104121_844-103991del	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196795	ATATATGT others(124): Show ATATATGTCACATAATGTAATAATTATATATGTCACATATAATGTAATAA TTATATATGTCACATATAATGTAATAATTATATATGTCACATATAATGTA ATAATTATATATGTCACATATAATGTAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG03130.hp2 others(9): Show HG02965.hp1 HG03041.hp2 HG03130.hp2 NA18941.hp1 NA18942.hp2 NA18963.hp2 NA18977.hp1 NA18981.hp1 NA19072.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0064 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0160	12	428	0.0280	-131	c.449 others(17): Show c.449-2202_449-2072del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196820	ATATATGT others(124): Show ATATATGTCACATATAATGTAATAATTATATATGTCACATATAATGTAAT AATTATATATGTCACATATAATGTAATAATTATATATGTCACATATAATG TAATAATTATATGTCACATATAATGTAATAAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	428	0.0023	-131	c.449 others(17): Show c.449-2114_449-1984del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKHD1_chr6_51610299_52092613	51931826	AGAGAGAG others(124): Show AGAGAGAGAGGAGGGAGAAGGAGAATAAAGGAGAGGGAGGGAGGAGAGGA AGGGAGGAAAAAGGGGAGAGAGAGAGAGGAGGGAGAAGGAGAATAAAGAA GAAAGAGGGAGAAGAGGAAGGGAGGAAGCATG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18964.hp2 NA19005.hp1 others(1): Show HG02040.hp2 NA18964.hp2 NA19005.hp1 NA19007.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0002 a0004c0008 a0004c0046 others(1): Show a0001c0002 a0004c0008 a0004c0046 a0010c0026	a0001c0002t0001 a0004c0008t0011 a0004c0046t0002 others(1): Show a0001c0002t0001 a0004c0008t0011 a0004c0046t0002 a0010c0026t0001	a0001c0002t0001g0113 a0004c0008t0011g0026 a0004c0046t0002g0050 others(1): Show a0001c0002t0001g0113 a0004c0008t0011g0026 a0004c0046t0002g0050 a0010c0026t0001g0013	4	134	0.0299	-131	c.612 others(19): Show c.6121+2153_6121+2283del	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	37/66			chr6	TogoVar
PLSCR4_chr3_146187335_146256105	146224438	CTCGCGGT others(124): Show CTCGCGGTGAGTGTTACAGCTCTTAAGGTGGCGCATCTGGAGTTTGTTCC TTCTTATGTTCCGATGTATTCGGAGTTTCTTCCTTCTGGTGGGTTCGTGG TCTCGCTGGCTCAGGAGTGAAGCTGCAGACCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02895.hp1 others(2): Show HG02630.hp2 HG02647.hp2 HG02895.hp1 HG02922.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0149 a0001c0001t0010g0151 a0001c0001t0012g0147 others(2): Show a0001c0001t0010g0149 a0001c0001t0010g0151 a0001c0001t0012g0147 a0001c0001t0012g0148 a0001c0001t0012g0150	5	380	0.0132	-131	c.-21 others(17): Show c.-21-2477_-21-2347del	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding	1/8			chr3	TogoVar
POTEB_chr15_21841329_21882735	21881309	TCTGTCAT others(124): Show TCTGTCATTAAGAAAAGTATTTATTATTACAAATGTGAATTTCTCTAGAC GGTAAATTCTTTGGAATTAGTTGACTTCATGTAAGTTGATTTGTTCAGTA ACACAGAGTAGACTTCTTGTAAATAGGAACAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0022 a0001c0004t0005g0022	1	64	0.0156	-131	c.-41 others(11): Show c.-4194_-4064del	POTEB	ENSG00000233917.9	transcript	ENST00000439682.2	protein_coding		3575		chr15	TogoVar
PRPF4_chr9_113270658_113297905	113284567	TAGCCGTT others(124): Show TAGCCGTTCTCGCTCTTCACCAGTGACCCCAGAGATCCATTACACAAAGC ACTCTGTCACATTCTTGACACTAGTATTTTGGAACAGGTCCTGTAGTGAG TTTATAGACCAACTAGTATCCATAACTCAGTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	426	0.0024	-131	c.749 others(15): Show c.749+179_749+309del	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13			chr9	TogoVar
PRPF8_chr17_1645629_1689867	1689344	CCTCCATC others(124): Show CCTCCATCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCGCTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0097	1	291	0.0034	-131	c.-47 others(11): Show c.-4707_-4577del	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4478		chr17	TogoVar
RILPL1_chr12_123465054_123538719	123511594	CTGTGTGT others(124): Show CTGTGTGTGTGGTGTGTGTGAGGTCTGTGTGTGGTGTGTGAGGTCTGTGT GTGTGAGATCTGTATGTGTGAGGTCTGTGTGTGTGGTGTGTGGTGTGTGT GTGTGGTGTGAGATCTGTGTGTGTGTGAGGTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0017 a0002c0008t0017	a0002c0008t0017g0102 a0002c0008t0017g0102	1	210	0.0048	-131	c.460 others(19): Show c.460+11770_460+11900del	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RNF26_chr11_119329527_119342309	119340275	ATGGTGGC others(124): Show ATGGTGGCCCGGCGTGCCTGGAAGGCCGGGGTGCCCCGGGCAGAGGCTGG GGATCTTGTTGTCGTCCAGTGGGGGCGAGCCGGCCGCCAGGCCCAGGAGC AGCAGGACGAGGAGTGGCCTCATAGCGCTGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	422	0.0024	-131	c.38 others(11): Show c.3852_*3982del	RNF26	ENSG00000173456.5	transcript	ENST00000311413.5	protein_coding		2967		chr11	TogoVar
RPTOR_chr17_80539838_80971368	80665375	TTCCTTTC others(124): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCATG	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0130 a0001c0060t0001g0130	1	196	0.0051	-131	c.348 others(19): Show c.348+21584_348+21714del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SBK2_chr19_55523611_55542133	55530616	CTAGTGTG others(124): Show CTAGTGTGACCCGTGAGGCCTGTGGGTTTAGTGTGGCCTAGGGTGACCCC GTGAGGCCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGGGGCCTAGTG TGACCTGTGAGGCCTGTGGGTTTAGTGTGGCT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0228 a0004c0005t0005g0228	1	434	0.0023	-131	c.456 others(15): Show c.456+396_457-294del	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3			chr19	TogoVar
SLC39A14_chr8_22362278_22427736	22396391	GAGAGAGA others(124): Show GAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAGAGAGAG AGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0111 a0003c0001t0001g0111	1	324	0.0031	-131	c.-15 others(17): Show c.-15-8304_-15-8174del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396423	AGAGAGAG others(124): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18971.hp2 NA19066.hp1 NA18953.hp1 NA18971.hp2 NA19066.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0178 a0001c0004t0002g0179 a0001c0004t0002g0180 a0001c0004t0002g0178 a0001c0004t0002g0179 a0001c0004t0002g0180	3	324	0.0093	-131	c.-15 others(17): Show c.-15-8272_-15-8142del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396425	AGAGAGAG others(124): Show AGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0173 a0001c0005t0008g0173	1	324	0.0031	-131	c.-15 others(17): Show c.-15-8270_-15-8140del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC9A3_chr5_465456_529449	497730	GGCCGCAT others(124): Show GGCCGCATCCCCAGCCTCTGCCCCTGTCCCGGGTGGGGTCGCCCGGCCGC ATCCCCAGCCTCTGCCCCTGTCCCGGGTGGGGTCGCCCGGCCGCATCCCC AGCCTCTGCCCCTGTCCCGGGTGGGGTCGCCC	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0191 a0002c0002t0003g0191	1	218	0.0046	-131	c.212 others(17): Show c.212-5790_212-5660del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	497764	GGGGTCGC others(124): Show GGGGTCGCCCGGCCGCATCCCCAGCCTCTGCCCCTGTCCCGGGTGGGGTC GCCCGGCCGCATCCCCAGCCTCTGCCCCTGTCCCGGGTGGGGTCGCCCGG CCGCATCCCCAGCCTCTGCCCCTGTCCCGGGT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0197 a0002c0002t0003g0197	1	218	0.0046	-131	c.212 others(17): Show c.212-5824_212-5694del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850350	ATACATAA others(124): Show ATACATAATATGTATAATATATATTATATATATTATATAATATATATTAT ATATTATGTATAATATATATAATATATTATATATATTATGTATAATATAT ATTATATATTATACATAATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp2 HG03209.hp2 others(1): Show HG02717.hp1 HG02896.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0205 a0001c0001t0208 a0001c0001t0209 others(1): Show a0001c0001t0205 a0001c0001t0208 a0001c0001t0209 a0001c0001t0243	a0001c0001t0205g0120 a0001c0001t0208g0119 a0001c0001t0209g0121 others(1): Show a0001c0001t0205g0120 a0001c0001t0208g0119 a0001c0001t0209g0121 a0001c0001t0243g0011	4	310	0.0129	-131	c.784 others(15): Show c.784+793_784+923del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SRGAP2B_chr1_144882288_145100328	144883835	AAAGCCGA others(124): Show AAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGCGG GGGGCGAAAAGCCACGGCGGCGGGGGGTAAAAAGCCGCGGCGGTCAAAAA GCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00673.hp1 others(22): Show HG00280.hp1 HG00280.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01099.hp2 HG01109.hp2 HG01175.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02523.hp2 HG03490.hp1 HG03831.hp2 NA18941.hp2 NA18946.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0004 a0001c0001 a0002c0002 a0008c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 a0008c0004t0005	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(22): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0007g0011 a0001c0001t0012g0051 a0001c0001t0016g0038 a0002c0002t0001g0031 a0002c0002t0001g0042 a0002c0002t0010g0023 a0002c0002t0011g0028 a0008c0004t0005g0013	25	56	0.4464	-131	c.81 others(11): Show c.8194_*8324del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3452		chr1	TogoVar
SYNPO2_chr4_118883854_119066247	118976164	ACGTCTGG others(124): Show ACGTCTGGAGTCTGTCCCTTCTGATGTTCAGATGTGTTCGGAGTTTTTTC CTTCTGGTGGGTTCGTGGTCTCGCTGGCTCAGGAGTGAAGCTGCAGACCT TTGCAGTGAGTGTTACAGCTCTTAAGGCAGCG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18989.hp1 NA19063.hp1 NA18970.hp2 NA18989.hp1 NA19063.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0287 a0005c0007t0001g0288 a0005c0007t0001g0291 a0005c0007t0001g0287 a0005c0007t0001g0288 a0005c0007t0001g0291	3	310	0.0097	-131	c.106 others(19): Show c.106-47255_106-47125del	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
TAF13_chr1_109059140_109081003	109071956	AAATATAT others(124): Show AAATATATATATATATATATACACACATATATATATATATATATATATAT ATATATATACACACACATATATATATATATATATATATACACACACATAT ATATATATATATATATATATACACACACATAT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0133 a0001c0001t0006g0133	1	414	0.0024	-131	c.106 others(17): Show c.106+2900_106+3030del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar

Search by Variant

Search

Search Results