Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LOC128462377_chr16_89312046_89423292	89421335	GGGGGTGG others(142): Show GGGGGTGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGG ATGGGACCATCACCCGTCCATGTCTGGGGGCGGGGGTGAGACACGAAGGG TCGGTGTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0129 a0001c0001t0000g0129	1	366	0.0027	-149	c.-31 others(11): Show c.-3192_-3044del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding		3044		chr16	TogoVar
LOC400499_chr16_11367015_11532247	11486261	GGATGGAT others(142): Show GGATGGATGGAGGGATGGATGGATGGATGGATGGATGAATGGTACATGGG TAGACAGATGATGGGTGGGTAGATGAATGAATGATGGCTGGATAGATGAA TGAATGATGGCTGGGTGGGTGTGTGGTTTGGTAAATGGATTGAGTGAATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02155.hp1 HG03579.hp1 others(2): Show HG00408.hp1 HG02155.hp1 HG03579.hp1 NA18956.hp1 NA19085.hp2	a0019 a0148 a0235 others(2): Show a0019 a0148 a0235 a0248 a0249	a0019c0088 a0148c0101 a0235c0235 others(2): Show a0019c0088 a0148c0101 a0235c0235 a0248c0048 a0249c0047	a0019c0088t0001 a0148c0101t0002 a0235c0235t0002 others(2): Show a0019c0088t0001 a0148c0101t0002 a0235c0235t0002 a0248c0048t0001 a0249c0047t0001	a0019c0088t0001g0077 a0148c0101t0002g0142 a0235c0235t0002g0070 others(2): Show a0019c0088t0001g0077 a0148c0101t0002g0142 a0235c0235t0002g0070 a0248c0048t0001g0270 a0249c0047t0001g0221	5	310	0.0161	-149	c.201 others(18): Show c.2013+852_2013+1000del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	15/66			chr16	TogoVar
MADCAM1_chr19_491486_510343	492849	CCAAAGTG others(142): Show CCAAAGTGCTCGGATTACAGGCGCCCGCCACCACGCCTGGCTAATCTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC CATCTCCTGACCTCGTGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0167 a0003c0002t0001g0167	1	364	0.0028	-149	c.-36 others(11): Show c.-3650_-3502del	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding		3636		chr19	TogoVar
MAP3K15_chrX_19355059_19520508	19452165	GAAGAGAA others(142): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	163	0.0061	-149	c.995 others(17): Show c.995+4599_995+4747del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MYNN_chr3_169768396_169794716	169771298	AATATATA others(142): Show AATATATAAAAAATTATGTTTATATATAATAAATATAAAAATTTGTTTAT ATATAATAAATATAAAAATTTATGTTTATATATAATAAATATATAAAAAT TTATGTTTATATATAATAAATATATAAAAATTTGTTTATATATAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	350	0.0029	-149	c.-21 others(11): Show c.-2195_-2047del	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2097		chr3	TogoVar
NDST3_chr4_118029486_118263634	118066457	TATACATT others(142): Show TATACATTATATATGTTATATATTATATATACATTATATATGTTATATAT TATATATACATTATATATGTTATATATTATATATACATTATATATAATAT GTTATATATTATATATACATTATATATAACATGTTATATATTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp1 HG02615.hp1 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0100 a0001c0005t0004g0108 a0001c0005t0004g0100 a0001c0005t0004g0108	2	216	0.0093	-149	c.981 others(19): Show c.981+11569_981+11717del	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NEU4_chr2_241804193_241822413	241805525	TCCCCCCT others(142): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	319	0.0031	-149	c.-37 others(11): Show c.-3752_-3604del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3667		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806879	TCCCCCCT others(142): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0073 a0001c0004t0001g0073	1	319	0.0031	-149	c.-23 others(11): Show c.-2398_-2250del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2313		chr2	TogoVar
NME7_chr1_169127531_169372797	169342578	ATATATAT others(142): Show ATATATATATATACAAGTACATATATATAGTATATATATATACAAGTACA TATATATAGTATATATATATACAAGTACATATATATATAGTATATATATA TACAAGTACATATATATAGTATATATATATACAAGTACATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02896.hp2 HG02965.hp1 others(2): Show HG02027.hp1 HG02896.hp2 HG02965.hp1 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0140 a0001c0001t0002g0087 a0001c0001t0002g0143 others(2): Show a0001c0001t0001g0140 a0001c0001t0002g0087 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0005g0141	5	302	0.0166	-149	c.4-1 others(15): Show c.4-18227_4-18079del	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NRG3_chr10_81870194_82992178	82641000	TCAGTCTG others(142): Show TCAGTCTGTCGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(58): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG04204.hp1 NA18942.hp1 NA19079.hp1 NA19079.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0005t0003 a0001c0007t0003 a0002c0003t0004 a0003c0004t0001 a0004c0006t0008	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 others(58): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0005g0003 a0001c0001t0005g0023 a0001c0001t0005g0044 a0001c0001t0005g0049 a0001c0001t0005g0060 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0005g0002 a0001c0002t0006g0021 a0001c0002t0006g0042 a0001c0002t0007g0066 a0001c0005t0003g0005 a0001c0007t0003g0034 a0002c0003t0004g0001 a0002c0003t0004g0017 a0002c0003t0004g0019 a0002c0003t0004g0027 a0002c0003t0004g0043 a0002c0003t0004g0047 a0002c0003t0004g0052 a0002c0003t0004g0055 a0002c0003t0004g0061 a0003c0004t0001g0063 a0003c0004t0001g0064 a0003c0004t0001g0065 a0004c0006t0008g0022	61	66	0.9242	-149	c.954 others(19): Show c.954-97560_954-97412del	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR4S1_chr11_48301223_48312152	48305923	AGATTTAT others(142): Show AGATTTATATATATTATTATATATAATATAAATTATATATTATATATATA ATATATATTATAATATATATTATATATTATATATATATAATATATATTAT TATATATAATATATAATTTATATATATATATAATAATATATTATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	426	0.0024	-149	c.-29 others(9): Show c.-299_-151del	OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding		299		chr11	TogoVar
PADI4_chr1_17303197_17369004	17351923	GGAGAGGC others(142): Show GGAGAGGCGGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGCCAGGG AGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGAGAGGCGGCC AGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02630.hp1 others(3): Show HG02055.hp2 HG02257.hp1 HG02630.hp1 HG03041.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0022 a0001c0001t0002g0337 a0002c0002t0001g0009 others(3): Show a0001c0001t0001g0022 a0001c0001t0002g0337 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0002g0008 a0002c0002t0002g0010	6	372	0.0161	-149	c.115 others(19): Show c.1156-2602_1156-2454del	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17351931	GGTCAGGG others(142): Show GGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGTGATG GGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGAGAGGCGGCCAGGGAGGT GATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0345 a0001c0005t0001g0345	1	372	0.0027	-149	c.115 others(19): Show c.1156-2578_1156-2430del	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17351955	GAGGAGAG others(142): Show GAGGAGAGGCGGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTG ATGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGA GGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	372	0.0027	-149	c.115 others(19): Show c.1156-2570_1156-2422del	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PANX2_chr22_50165731_50185295	50168177	GGTTTATC others(142): Show GGTTTATCTGGCAGTGACTGGGTTATCTGGGGTGAATAGGTTATGTGAGG GGTGCCCGGGTTATTTGGGGTGATTGGTTTATCTGGCAGTGACTGGGTTA TCTGGGGTGAATAGGTTATGTGAGGGGTGCCCGGGTTATTTGGGGTGATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02895.hp1 others(5): Show HG02451.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03225.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0026 a0001c0002t0005g0063 a0001c0002t0005g0120 others(1): Show a0001c0002t0005g0026 a0001c0002t0005g0063 a0001c0002t0005g0120 a0001c0002t0005g0133	8	440	0.0182	-149	c.-25 others(11): Show c.-2553_-2405del	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		2553		chr22	TogoVar
PLCXD1_chrX_276381_308356	277347	GTGGGGAC others(142): Show GTGGGGACAGGTGTGGGGACAGGAGGGGACACCCCTCAGTGGTCAGGGGA CCTGGGATGTGAGGGGAGGGGTCAGGGCACGTGGGGACAGGAGTGGACAC CCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGCTCAGGAGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG02683.hp1 others(1): Show HG00639.hp1 HG00733.hp2 HG02683.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0019 a0001c0002 a0002c0019	a0001c0002t0001 a0001c0002t0094 a0001c0002t0097 others(1): Show a0001c0002t0001 a0001c0002t0094 a0001c0002t0097 a0002c0019t0022	a0001c0002t0001g0154 a0001c0002t0094g0140 a0001c0002t0097g0141 others(1): Show a0001c0002t0001g0154 a0001c0002t0094g0140 a0001c0002t0097g0141 a0002c0019t0022g0138	4	176	0.0227	-149	c.-43 others(11): Show c.-4358_-4210del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		4033		chrX	TogoVar
PLEKHN1_chr1_961482_980865	964625	GGGGCGCG others(142): Show GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGAT GTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0128 a0004c0004t0004g0128	1	422	0.0024	-149	c.-19 others(11): Show c.-1906_-1758del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1856		chr1	TogoVar
RRP12_chr10_97351701_97406340	97384612	CGGAGACC others(142): Show CGGAGACCCTGAGGACCCCCAATCTCGGCAGCCTGGACAGAGGCTCTGAG AACTCCATAACCTCAGCAGCCAGGATGAAGGCCCTAAGTACTCCCAACCT CAGCAGCCTGGACGGAGACCCTGAGGACCCCCAACCTCGGCAGCCAGGAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19057.hp2 HG03834.hp2 NA19057.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0162 a0004c0010t0001g0163 a0004c0010t0001g0162 a0004c0010t0001g0163	2	400	0.0050	-149	c.120 others(17): Show c.1208+405_1208+553del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	10/33			chr10	TogoVar
RUBCNL_chr13_46329681_46392252	46332752	ACTGCACC others(142): Show ACTGCACCATCTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTCTTTTCTTT TTTTATTATACTTTAGGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACTCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(101): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01496.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02630.hp2 HG02818.hp2 HG03130.hp2 HG03239.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp2 NA19240.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0009	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0007c0007 a0008c0008 a0009c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(25): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0028 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0013t0079 a0002c0002t0053 a0007c0007t0002 a0007c0007t0009 a0008c0008t0030 a0009c0012t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0018 others(89): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0004g0009 a0001c0001t0004g0015 a0001c0001t0004g0023 a0001c0001t0004g0191 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0214 a0001c0001t0004g0249 a0001c0001t0009g0240 a0001c0001t0009g0266 a0001c0001t0009g0268 a0001c0001t0009g0274 a0001c0001t0009g0288 a0001c0001t0009g0298 a0001c0001t0012g0252 a0001c0001t0012g0253 a0001c0001t0012g0262 a0001c0001t0012g0295 a0001c0001t0012g0297 a0001c0001t0017g0195 a0001c0001t0017g0203 a0001c0001t0017g0205 a0001c0001t0018g0256 a0001c0001t0018g0257 a0001c0001t0018g0258 a0001c0001t0025g0204 a0001c0001t0025g0207 a0001c0001t0028g0261 a0001c0001t0028g0287 a0001c0001t0063g0170 a0001c0001t0066g0206 a0001c0001t0067g0192 a0001c0001t0068g0200 a0001c0001t0076g0208 a0001c0001t0077g0237 a0001c0001t0078g0275 a0001c0001t0080g0238 a0001c0001t0081g0293 a0001c0001t0082g0286 a0001c0001t0083g0271 a0001c0001t0085g0280 a0001c0001t0086g0254 a0001c0001t0087g0301 a0001c0013t0079g0276 a0002c0002t0053g0055 a0007c0007t0002g0245 a0007c0007t0009g0223 a0008c0008t0030g0312 a0008c0008t0030g0313 a0009c0012t0002g0255	104	356	0.2921	-149	c.10 others(13): Show c.10484_*10632del	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding		1928		chr13	TogoVar
SEC14L3_chr22_30454229_30477017	30467967	AAAAAAAC others(142): Show AAAAAAACCCATCAACCAAGAATTCTATTCCCGGCCTGGTACGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGG TCAGGAGATCGAGACCATCCCGGCCAACATGGTGAAACCCCGTCTGTATT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0065 a0004c0004t0001g0065	1	454	0.0022	-149	c.423 others(15): Show c.423+392_423+540del	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding	5/11			chr22	TogoVar
SEPTIN2_chr2_241310925_241359027	241326400	TCCCTTCC others(142): Show TCCCTTCCTGCATTGAATAGGGTTTTACCTGTGTAGCCAGTAGGACATTG TGGAGATGAAAGTGTTGTCATTTTCTAAGACTAGGTCATAAAAGGCATTA TGGCCCCCCACCTTGCCTCTTCTCAAATTACTCACTCTGGAGGAAGCCAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0008 a0001c0004t0002 a0001c0005t0004 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(251): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0081 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0004g0003 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0082 a0001c0001t0004g0142 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0317 a0001c0001t0006g0037 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0143 a0001c0001t0006g0189 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0254 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0298 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0314 a0001c0001t0006g0315 a0001c0001t0007g0004 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0007g0177 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0190 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0280 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0053 a0001c0001t0008g0146 a0001c0001t0008g0148 a0001c0001t0009g0033 a0001c0001t0009g0153 a0001c0001t0009g0167 a0001c0001t0009g0168 a0001c0001t0009g0170 a0001c0001t0010g0021 a0001c0001t0010g0072 a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0011g0019 a0001c0001t0011g0071 a0001c0001t0011g0073 a0001c0001t0011g0074 a0001c0001t0012g0013 a0001c0001t0012g0029 a0001c0001t0013g0147 a0001c0001t0013g0150 a0001c0001t0013g0151 a0001c0001t0013g0152 a0001c0001t0015g0020 a0001c0001t0015g0075 a0001c0001t0015g0076 a0001c0001t0016g0049 a0001c0001t0016g0299 a0001c0001t0016g0301 a0001c0001t0017g0077 a0001c0001t0017g0078 a0001c0001t0017g0319 a0001c0001t0018g0300 a0001c0001t0018g0302 a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0023g0287 a0001c0001t0024g0193 a0001c0001t0025g0027 a0001c0001t0026g0156 a0001c0001t0029g0135 a0001c0001t0030g0002 a0001c0001t0031g0120 a0001c0002t0008g0149 a0001c0004t0002g0259 a0001c0005t0004g0291 a0002c0003t0002g0059	314	408	0.7696	-149	c.130 others(15): Show c.130+438_130+586del	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM2_chr17_2332501_2386054	2356676	GTTGGGGG others(142): Show GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG ATTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18970.hp2 NA18978.hp1 NA18951.hp1 NA18970.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0008g0210 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0008g0210	3	422	0.0071	-149	c.134 others(17): Show c.134-4954_134-4806del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356777	TGGGGGAA others(142): Show TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGAT TGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATT GGGGAAGGGATCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG02015.hp2 others(20): Show HG00280.hp2 HG00597.hp1 HG02015.hp2 HG02074.hp2 NA18941.hp2 NA18942.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18965.hp2 NA18971.hp2 NA18973.hp1 NA18989.hp2 NA18994.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19085.hp1 NA20752.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0001c0028 others(1): Show a0001c0001 a0001c0003 a0001c0028 a0011c0027	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0028t0001 a0011c0027t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0082 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0138 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0003g0254 a0001c0003t0002g0105 a0001c0028t0001g0250 a0011c0027t0001g0240	23	422	0.0545	-149	c.134 others(17): Show c.134-4855_134-4707del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHOX_chrX_625791_656584	636548	TATATATA others(142): Show TATATATAAACATATATACATATAAAGAAATATATATAAACATATATACA TATAAAATATACATATATAAACATATATATACATATAAAGAAATATATAT AAACATATATACATATAAAATATACATATATAAACATATATATACATAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG02109.hp2 others(9): Show HG00741.hp2 HG01884.hp1 HG02109.hp2 HG02257.hp2 HG02559.hp2 HG02615.hp2 HG02723.hp2 HG02976.hp1 HG03516.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0021 a0001c0001t0046 others(9): Show a0001c0001t0019 a0001c0001t0021 a0001c0001t0046 a0001c0001t0054 a0001c0001t0057 a0001c0001t0087 a0001c0001t0093 a0001c0001t0094 a0001c0001t0157 a0001c0001t0178 a0001c0001t0185 a0001c0001t0195	a0001c0001t0019g0082 a0001c0001t0021g0004 a0001c0001t0046g0118 others(9): Show a0001c0001t0019g0082 a0001c0001t0021g0004 a0001c0001t0046g0118 a0001c0001t0054g0087 a0001c0001t0057g0147 a0001c0001t0087g0128 a0001c0001t0093g0088 a0001c0001t0094g0004 a0001c0001t0157g0089 a0001c0001t0178g0159 a0001c0001t0185g0124 a0001c0001t0195g0127	12	220	0.0546	-149	c.486 others(17): Show c.486+1730_486+1878del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SKI_chr1_2223319_2315213	2281511	AGGACGCC others(142): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGC CCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18945.hp2 NA18942.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0195 a0001c0001t0008g0193 a0001c0001t0001g0195 a0001c0001t0008g0193	2	330	0.0061	-149	c.970 others(19): Show c.970-21464_970-21316del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281554	AGGACGCC others(142): Show AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0297 a0001c0001t0058g0297	1	330	0.0030	-149	c.970 others(19): Show c.970-21421_970-21273del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281597	AGGACGCC others(142): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0176 a0001c0001t0013g0176	1	330	0.0030	-149	c.970 others(19): Show c.970-21378_970-21230del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281683	AGGACGCC others(142): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02074.hp2 HG01257.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0198 a0001c0001t0006g0065 a0001c0001t0005g0198 a0001c0001t0006g0065	2	330	0.0061	-149	c.970 others(19): Show c.970-21292_970-21144del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281769	AGGACGCC others(142): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 HG02723.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0016 a0001c0012t0011 a0001c0001t0016 a0001c0012t0011	a0001c0001t0016g0267 a0001c0012t0011g0266 a0001c0001t0016g0267 a0001c0012t0011g0266	2	330	0.0061	-149	c.970 others(19): Show c.970-21206_970-21058del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281812	AGGACGCC others(142): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	330	0.0061	-149	c.970 others(19): Show c.970-21163_970-21015del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282200	AGGACGCC others(142): Show AGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0201 a0001c0001t0015g0201	1	330	0.0030	-149	c.970 others(19): Show c.970-20775_970-20627del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203306	AGAGACCG others(142): Show AGAGACCGTGGAGAGAGGGAGAGGGAGACCATGGAGAGAGAGAGAGAGAG AGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGACCGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0157 a0003c0002t0002g0157	1	188	0.0053	-149	c.81 others(11): Show c.8117_*8265del	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3867		chr8	TogoVar
SNTG2_chr2_945849_1372613	1056393	GGGGAGGG others(142): Show GGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGCTGTGGGGAGGGA GGGAGAGCGTCGCGCTGTGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCG CCACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCCCGCTGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02717.hp1 HG02886.hp1 others(3): Show HG01169.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2 HG03540.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0082 others(3): Show a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086	6	190	0.0316	-149	c.73- others(17): Show c.73-27111_73-26963del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SON_chr21_33538038_33582481	33548176	CTTCTTAA others(142): Show CTTCTTAAGTTGTAAATTAAGGACTAAGAATTTCCTCTCTAAAATCAGTA TTCTTTTCTAAAATAGAAACATTTGAAAAGTTATTTATTAGTGGTTTTAG AATAGTATTGGGGGAAAATGTTATCTCTTTAGGGTATGTAAATTCAAACT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG03209.hp1 HG02630.hp1 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0062 a0001c0001t0001g0029 a0001c0001t0001g0062	3	364	0.0082	-149	c.245 others(17): Show c.245-1289_245-1141del	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
SPAG6_chr10_22340496_22422610	22419814	GTATCAAT others(142): Show GTATCAATAAGTTAATTTTTAAAAAAAAATTAGGCAGTATATGAATGGAT AAAGAAAGAAGCAAAAATATGACTCCAGATCTCACAACCCAAAACAGAAT TGTCATTAACAAGCTGAGATAGTTCCAAATAGCTCTCCAAACCTTTGTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	142	0.0070	-149	c.31 others(11): Show c.3127_*3275del	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding		2205		chr10	TogoVar
SRXN1_chr20_641615_658200	642263	GGTGGGGG others(142): Show GGTGGGGGGCCAGCGGGGGTGAAGTTGCCTGGGGGGGGCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG CCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCAGCGGGGGTGGAGTTGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0087 a0001c0001t0017g0087	1	422	0.0024	-149	c.63 others(11): Show c.6302_*6450del	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4351		chr20	TogoVar
THBS3_chr1_155190588_155212897	155190802	TGTCCGGG others(142): Show TGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCC GGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG01891.hp1 others(21): Show HG01081.hp1 HG01261.hp2 HG01891.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG03017.hp1 HG04199.hp1 HG04199.hp2 NA18942.hp2 NA18944.hp2 NA18950.hp2 NA18954.hp1 NA18978.hp1 NA18983.hp1 NA18987.hp2 NA18992.hp1 NA19000.hp2 NA19060.hp2 NA19062.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053	24	298	0.0805	-149	c.48 others(11): Show c.4890_*5038del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4785		chr1	TogoVar
THSD7B_chr2_136760545_137682718	136890373	CTTCCTCT others(142): Show CTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTC CTTTCTTCTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTTCTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03195.hp1 NA18961.hp1 HG00438.hp1 HG03195.hp1 NA18961.hp1	a0002 a0012 a0018 a0002 a0012 a0018	a0002c0003 a0012c0050 a0018c0041 a0002c0003 a0012c0050 a0018c0041	a0002c0003t0006 a0012c0050t0001 a0018c0041t0007 a0002c0003t0006 a0012c0050t0001 a0018c0041t0007	a0002c0003t0006g0041 a0012c0050t0001g0019 a0018c0041t0007g0007 a0002c0003t0006g0041 a0012c0050t0001g0019 a0018c0041t0007g0007	3	98	0.0306	-149	c.139 others(17): Show c.139+8057_139+8205del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27			chr2	TogoVar
THSD7B_chr2_136760545_137682718	136890376	CCTCTTCC others(142): Show CCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTCCTT TCTTCTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTTCTTCTTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0010 a0004c0008t0010	a0004c0008t0010g0079 a0004c0008t0010g0079	1	98	0.0102	-149	c.139 others(17): Show c.139+8062_139+8210del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM144_chr4_158205486_158260416	158257011	ATTATATA others(142): Show ATTATATATAGTATTATATATATTATATATAGTATTATATATTATATATA GTATTATATATATTATATATAGTATTATATATTATATATAGTATTATATA TATTATATATAGTATTATATATTATATATAGTATTATATATAATATATAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0128 a0001c0001t0024g0128	1	274	0.0037	-149	c.34 others(11): Show c.3485_*3633del	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1596		chr4	TogoVar
TNR_chr1_175310194_175748595	175359041	TTGTACTT others(142): Show TTGTACTTGCCCTTGGTTACATGCCTTTCTTGTACCTTTCAGATTCAGCT TTCTCAGCTCCTAGATTTGATACAGTTTGCAGAGTTTGGGGATATCTTCT TTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTGTGACTCCCAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02976.hp2 HG00642.hp1 HG02976.hp2	a0004 a0005 a0004 a0005	a0004c0021 a0005c0035 a0004c0021 a0005c0035	a0004c0021t0001 a0005c0035t0053 a0004c0021t0001 a0005c0035t0053	a0004c0021t0001g0036 a0005c0035t0053g0070 a0004c0021t0001g0036 a0005c0035t0053g0070	2	132	0.0152	-149	c.297 others(17): Show c.2974+422_2974+570del	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	15/22			chr1	TogoVar
TRHDE_chr12_72267370_72675758	72331380	ATCATTAA others(142): Show ATCATTAATTCTCTTTACTTACTTAGCAACAAGAAAGTTAACTCTCTCAG TTAATTGTATCTTGACAGAAAGACATTTCATTACTATGCTACCGAATGAA CTAATTATTTCTGCTATGGAGCTGCTCACTTGTCACTTTGCTCTACTTCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00642.hp2 others(26): Show HG00140.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG02145.hp2 HG02258.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02970.hp1 HG02976.hp2 HG03239.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA19000.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0008 a0003c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0003t0002 a0001c0003t0012 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0030 a0002c0008t0011 a0003c0005t0006 a0003c0006t0040	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0080 others(26): Show a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0002g0153 a0001c0001t0003g0084 a0001c0001t0005g0151 a0001c0001t0005g0158 a0001c0001t0009g0152 a0001c0001t0011g0157 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0147 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0012g0130 a0002c0002t0001g0009 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0030g0001 a0002c0008t0011g0065 a0003c0005t0006g0027 a0003c0005t0006g0028 a0003c0005t0006g0029 a0003c0006t0040g0039	29	158	0.1835	-149	c.118 others(21): Show c.1188+44427_1188+44575del	TRHDE	ENSG00000072657.10	transcript	ENST00000261180.10	protein_coding	2/18			chr12	TogoVar
TSPAN4_chr11_837852_872111	859320	TTCACACG others(142): Show TTCACACGCACCCCGGGCTCACACGCACCCCGGGCTCACACGCACCCCCC CTTTCACACGCACCCCGGGCTCACATGCACCCCGGCTCACACGCACCCCC TCTCACACGCACCCCGGCTCACACGCACCCCCCTCACACGCACCCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18946.hp1 HG03516.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0277 a0001c0001t0001g0288	2	394	0.0051	-149	c.64- others(15): Show c.64-3181_64-3033del	TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
TXK_chr4_48061393_48139250	48104273	AATATATA others(142): Show AATATATAATATATATAATATATAATATAATATATAATATATATAATATA TAATATAATATATAATATATATAATATATAATATAATATATAATATATAT AATATATAATATTATATATAATATATATAATATATAATATTATATATAAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0245 a0002c0003t0001g0245	1	362	0.0028	-149	c.501 others(15): Show c.501+479_501+627del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TYMS_chr18_652653_678578	666895	GGTGATGG others(142): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGG TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19083.hp1 NA18967.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	2	482	0.0042	-149	c.455 others(17): Show c.455-2175_455-2027del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBTD1_chr10_97493924_97576206	97528627	ACCCCCAC others(142): Show ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG01255.hp2 others(2): Show HG00642.hp2 HG01192.hp2 HG01255.hp2 HG01358.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133	5	314	0.0159	-149	c.70+ others(17): Show c.70+29392_70+29540del	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296838	CGGAGGTG others(142): Show CGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCACGCTGG CGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCACGCTGG CGGAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACACCACTCTGGT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0276 a0001c0001t0013g0276	1	368	0.0027	-149	c.249 others(17): Show c.2490+113_2490+261del	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
YBEY_chr21_46281342_46302751	46292582	TCCCGCGG others(142): Show TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA20752.hp1 HG00558.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0079 a0001c0001t0004g0166 a0001c0001t0001g0079 a0001c0001t0004g0166	2	404	0.0050	-149	c.339 others(17): Show c.339+1123_339+1271del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293026	TCCCGCGG others(142): Show TCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	404	0.0025	-149	c.339 others(17): Show c.339+1567_339+1715del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YES1_chr18_716588_817242	816946	CACCAGTA others(142): Show CACCAGTAAAATTGCTACCAGATTGCTACTTCCTGGAAATCTTTACAAAT GGGTTATGAAAAGTAGAACATAACATTGCTTGAAGGCAAGAAGTTAAAGT AGATTGTTTACCTGCATTGAGTGTTTAGAAAAGAAACTATAAATCAAGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	376	0.0027	-149	c.-49 others(11): Show c.-4990_-4842del	YES1	ENSG00000176105.14	transcript	ENST00000314574.5	protein_coding		4705		chr18	TogoVar

Search by Variant

Search

Search Results