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
GNG13_chr16_793041_805734	805521	GCTGCACA others(206): Show GCTGCACACCCCACTTACCACCCCATGGGTCACAGGCCTCGAACGTGCAT CCTGCTACGTGGAGACCAGACCACAGGTGGCCAAGCTCCGTCTCGGGAAA TAAGCCTGGGGCCCTGGGCGGCCGGCACTCACTTCCTGGCTATCTCTACC ACCCCATGGGGCAGGAAGACACCCGCCTGCATTTCTGAGCTCCCAACCAG CTCAGGAACAGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0024 a0001c0002t0005g0024	1	420	0.0024	-213	c.-51 others(11): Show c.-5103_-4891del	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		4788		chr16	TogoVar
HMGCLL1_chr6_55429373_55584192	55543181	AATATATA others(206): Show AATATATAATATATTATATATTATATATTATATATTATATAATATATAAT ATAGATATAATATAGATATATAATATATAATATAATATATCTATATTATA TATAATATATTATATATCATATATGATATATAATATATAATATATATTAT ATATCATATATGATATATAATATGATATATTATATATTATATATATTATA TGATATATAATATC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	331	0.0030	-213	c.109 others(17): Show c.109-1254_109-1042del	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	1/8			chr6	TogoVar
HMGN5_chrX_81108699_81206913	81155267	ATTTATAT others(206): Show ATTTATATAATTATATAATATAATTATAAAATATAAATTAGAGATATTAG AAAATTCTGGCAAGAATGTGGAGAAATGCATCATGGATATGTTGCAGGTG AGAATGTAAAATGGCACAGCCACTCAGCAATTGCCCTCTGGGTCATTTTT CCCTGGAGAGTTAAAACTTATGTTCACACATAAAGCTGTACAGGAATGTT CGTAGCAGCTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	223	0.0045	-213	c.-12 others(21): Show c.-123-33808_-123-33596del	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
ITSN2_chr2_24197864_24365536	24345601	AACTTAAA others(206): Show AACTTAAAACATACAAATAAAGCCAATTCTTTTGACCATCCTTCCCCATC AGTCTCTGAAAATACCCAGTGCTGTTAACAACATGACCTGTATCCACGGA TCTTTTTCTATGCATTACAATAATAGATATTATATTAATAGTAAGCTTTT ACCTGTAACATATGCTATAAATGCTTTTAATCTAGCTTGTTTGTCTTTTA ATTTTAGGGCATCT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0110 a0014c0023t0001g0110	1	222	0.0045	-213	c.-34 others(19): Show c.-34+14490_-34+14702del	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
NCOR2_chr12_124319415_124572612	124373452	GTGAGGCC others(206): Show GTGAGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGACAGTGAGGCC AGTGCGTGCGCAGGGGCCCCGGGCACAGTGGACAGTGAGGCCAGTGCGTG CGCAGGGGCCCCGGGCACAGTGGGCAGTGAGGCCAGTGCGTGCGCAGGGG CCCCGGGCACAGTGGGCAGTGAGGCCAGTGCGTGCGCAGGGGCCCCGGGC ACAGTGGACAATCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0012 a0012	a0012c0102 a0012c0102	a0012c0102t0007 a0012c0102t0007	a0012c0102t0007g0176 a0012c0102t0007g0176	1	219	0.0046	-213	c.221 others(17): Show c.2218+748_2219-843del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
ODF3_chr11_191761_205258	194717	GACACACA others(206): Show GACACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAG ACCCACATACAGAGGATCCTACTCAAGGAGCACACGTGCGAAAGTCCCCC ACAGAGGGACACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACA CACACAGACCCACATACAGAGGATCCCACTCAAGGAACACACGTGTGAAA GTCCCCACAGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01106.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	386	0.0052	-213	c.-23 others(11): Show c.-2337_-2125del	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		2043		chr11	TogoVar
PERM1_chr1_970198_987093	977602	CACCAACC others(206): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCA ACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCA CCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACT GCCTCCCACCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01943.hp1 NA18975.hp1 others(4): Show HG01358.hp2 HG01943.hp1 NA18975.hp1 NA19005.hp2 NA19010.hp1 NA19068.hp1 NA19081.hp1	a0004 a0010 a0004 a0010	a0004c0004 a0010c0014 a0004c0004 a0010c0014	a0004c0004t0002 a0010c0014t0002 a0004c0004t0002 a0010c0014t0002	a0004c0004t0002g0012 a0004c0004t0002g0162 a0010c0014t0002g0169 a0004c0004t0002g0012 a0004c0004t0002g0162 a0010c0014t0002g0169	7	392	0.0179	-213	c.214 others(18): Show c.2149+1066_2150-979del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX5_chr12_7184686_7216459	7196786	GTAATAAT others(206): Show GTAATAATTATATATGTCACATAATGTAATAATTATATATGTCACATATA ATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACA TATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATGTCA CATATAATGTAATAATTATATGTCACATATAATGTAATAATTATATATGT CACATATAATGTAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03831.hp1 NA18948.hp1 others(2): Show HG01167.hp2 HG03831.hp1 NA18948.hp1 NA19068.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0066 a0001c0001t0001g0068 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070	5	411	0.0122	-213	c.449 others(17): Show c.449-2220_449-2008del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHN1_chr1_961482_980865	977602	CACCAACC others(206): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCA ACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCA CCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACT GCCTCCCACCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01358.hp2 HG02155.hp1 others(2): Show HG00673.hp1 HG01358.hp2 HG02155.hp1 NA18963.hp2 NA19005.hp2	a0002 a0002	a0002c0006 a0002c0008 a0002c0006 a0002c0008	a0002c0006t0006 a0002c0008t0006 a0002c0006t0006 a0002c0008t0006	a0002c0006t0006g0066 a0002c0008t0006g0005 a0002c0008t0006g0014 a0002c0006t0006g0066 a0002c0008t0006g0005 a0002c0008t0006g0014	5	407	0.0123	-213	c.30 others(11): Show c.3028_*3240del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1738		chr1	TogoVar
PRKCA_chr17_66297613_66815743	66799355	GTGGTGGT others(206): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGGTGGTGGT GGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0177 a0001c0001t0035g0177	1	167	0.0060	-213	c.185 others(19): Show c.1855-4509_1855-4297del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123340	CACGGTGG others(206): Show CACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCG TGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGT GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTG TGGTGGTTAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01256.hp2 HG04204.hp1 HG00621.hp1 HG01256.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0206 a0001c0002t0001g0285 a0001c0002t0001g0006 a0001c0002t0001g0206 a0001c0002t0001g0285	3	253	0.0119	-213	c.335 others(19): Show c.335-11921_335-11709del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PXDN_chr2_1626887_1749515	1703921	GGTGGGGG others(206): Show GGTGGGGGACAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGTAGG GGACAACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGTAGGGGACAA CTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTG AAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGA CAGCTCCAGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02896.hp2 others(3): Show HG01891.hp1 HG02615.hp1 HG02896.hp2 HG02970.hp1 HG03486.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0012 others(1): Show a0001c0001 a0001c0006 a0001c0012 a0002c0009	a0001c0001t0009 a0001c0001t0010 a0001c0006t0004 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0006t0004 a0001c0012t0017 a0002c0009t0011	a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0001t0010g0166 others(3): Show a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0006t0004g0286 a0001c0012t0017g0167 a0002c0009t0011g0081	6	318	0.0189	-213	c.201 others(19): Show c.201-11000_201-10788del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RBFOX3_chr17_79084345_79616051	79463475	TCCACTGC others(206): Show TCCACTGCCATCGCCACTGCCACTGCCATCGCCACTGCCACCTCCACCAT CGCCACTGCCACCTCCACCACCATCACCACTGACACCTCCACCACCATCG CCACTGCCACCGCCACCTCCACCACCATCGCCACCTCCACCGCCATCGCC ACCGCCACTGCCACCGCCACCTCCACCACCATCGCCACCGCCACCTCCAC TGCCATTGCCACTG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0037 a0001c0001t0019g0037	1	102	0.0098	-213	c.-17 others(21): Show c.-175+18766_-175+18978del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RNF213_chr17_80255852_80403794	80313836	ATGGTGGA others(206): Show ATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGT ACTGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAA TGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATG GTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGT GGTGATGGTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0030 a0030	a0030c0031 a0030c0031	a0030c0031t0003 a0030c0031t0003	a0030c0031t0003g0019 a0030c0031t0003g0019	1	282	0.0035	-213	c.281 others(17): Show c.2811+681_2811+893del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314314	AGGTAATG others(206): Show AGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTG ATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGT GGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGG TGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTA ATGGAGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0037 a0037	a0037c0055 a0037c0055	a0037c0055t0005 a0037c0055t0005	a0037c0055t0005g0077 a0037c0055t0005g0077	1	289	0.0035	-213	c.281 others(19): Show c.2811+1151_2811+1363del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCGB1C1_chr11_188078_199575	194717	GACACACA others(206): Show GACACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAG ACCCACATACAGAGGATCCTACTCAAGGAGCACACGTGCGAAAGTCCCCC ACAGAGGGACACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACA CACACAGACCCACATACAGAGGATCCCACTCAAGGAACACACGTGTGAAA GTCCCCACAGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01192.hp2 HG01106.hp1 HG01192.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	2	354	0.0056	-213	c.26 others(9): Show c.268_*480del	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		143		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289832	TCTGCCCC others(206): Show TCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0038 a0009c0013t0001g0038	1	274	0.0036	-213	c.166 others(17): Show c.1663-434_1663-222del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280668	CGGCGGCG others(206): Show CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA CGCCCGAGAAGACA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0277 a0001c0001t0050g0277	1	328	0.0030	-213	c.970 others(19): Show c.970-22299_970-22087del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281506	GAGAGAGG others(206): Show GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAG GACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG TGGTGGAGATCTTC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0160 a0001c0001t0005g0160	1	324	0.0031	-213	c.970 others(19): Show c.970-21465_970-21253del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC16A9_chr10_59645764_59714850	59681456	GTGTATGT others(206): Show GTGTATGTGTATGTATATGTATATGTATATGTATATGTATATGTATATGT ATATGATGTATATGTATATGTGTATGTGTATGTGTATGTATATGTATATG TATATGATGTATATGTATATGTGTATGTGTATGTATATGTATATGTATAT GTATATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTATA TGTATATGATGTAT	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19082.hp1 NA18981.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0223 a0001c0001t0033g0064 a0001c0001t0002g0223 a0001c0001t0033g0064	2	272	0.0074	-213	c.196 others(17): Show c.196+2427_196+2639del	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC9A3_chr5_465456_529449	484242	GTTGGGGT others(206): Show GTTGGGGTCCCCCTGGCTGGCTCGCCCCGCCGGACCCAGGAGGGTGTGGA GAAGCTCGGGTTGGGGTCCCCCTGGCTGGCTCGCCCCGCCGGACCCAGGA GGGTGTGGAGAAGCTCGGGTTGGGGTCCCCCTGGCTGGCTCGCCCCGCCG GACCCAGGAGGGTGTGGAGAAGCTCGGGTTGGGGTCCCCCTGGCTGGCTC GCCCTGCCGGACCC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	216	0.0046	-213	c.932 others(14): Show c.932+65_932+277del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	5/16			chr5	TogoVar
SORCS2_chr4_7187538_7747827	7363429	TATCATCA others(206): Show TATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTC ACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGT ATCACCATTACCATCACCGTCACCATAACCATGCCTCACCATCATCATCA CCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAAC CATGCCTCACCATC	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG06807.hp1 NA20300.hp2 HG01361.hp1 HG06807.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0010 a0001c0015 a0003c0035 a0001c0010 a0001c0015 a0003c0035	a0001c0010t0026 a0001c0015t0011 a0003c0035t0008 a0001c0010t0026 a0001c0015t0011 a0003c0035t0008	a0001c0010t0026g0105 a0001c0015t0011g0015 a0003c0035t0008g0075 a0001c0010t0026g0105 a0001c0015t0011g0015 a0003c0035t0008g0075	3	100	0.0300	-213	c.481 others(19): Show c.481-32859_481-32647del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7363429	TATCATCA others(206): Show TATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTC ACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGT ATCACCATTACCATCACCGTCACCATAACCATGCCTCACCATCATCATCA CCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAAC CATGCCTCACCATC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 NA19030.hp1 HG01891.hp2 HG02809.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0053 a0004c0007 a0001c0002 a0001c0053 a0004c0007	a0001c0002t0003 a0001c0053t0001 a0004c0007t0001 a0001c0002t0003 a0001c0053t0001 a0004c0007t0001	a0001c0002t0003g0028 a0001c0053t0001g0044 a0004c0007t0001g0026 a0001c0002t0003g0028 a0001c0053t0001g0044 a0004c0007t0001g0026	3	100	0.0300	-213	c.481 others(19): Show c.481-32409_481-32197del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SSH2_chr17_29620938_29935228	29895598	ATATTTTA others(206): Show ATATTTTATATATACATTTTATATATGAAATATATAAAATATATTTTATA TACACATTTTATATATGAAATATATAAAATATATTTTATATACACATTTT ATATATGAAATATATAAAATATATTTTATATACACATTTCATATATAAAA TGTATTTTATATACACATTTCATGTATAAAATGTATTTTATATACACATT TCATGTATAAAATG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0010 a0001c0001t0017g0010	1	228	0.0044	-213	c.63+ others(17): Show c.63+34127_63+34339del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29895629	ATATAAAA others(206): Show ATATAAAATATATTTTATATACACATTTTATATATGAAATATATAAAATA TATTTTATATACACATTTTATATATGAAATATATAAAATATATTTTATAT ACACATTTCATATATAAAATGTATTTTATATACACATTTCATGTATAAAA TGTATTTTATATACACATTTCATGTATAAAATGTATTTTATATACACATT TCATGTATAAAATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0122 a0003c0004t0004g0122	1	219	0.0046	-213	c.63+ others(17): Show c.63+34096_63+34308del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
TBC1D14_chr4_6904826_7038114	6978007	GCCACTCC others(206): Show GCCACTCCGTCTGGGACGTGAGGAGCGACTCCGCCCGGCAGCCACCCCGT CTGGGAGGGAGGTGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	302	0.0033	-213	c.843 others(19): Show c.843+10588_843+10800del	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
TDRP_chr8_484946_549834	503771	CAGAGCCA others(206): Show CAGAGCCACACACTGGAACCCATGCCCACCTCAGCACGCGTCAATATGGA ATCAAGAGCCACACACTGGAACCAATGCCCACCTCTGCACACACCAACAC GGAATCCAGAGCCACACAAGGGTAACCCACCCCCACCTCAGCACGCACCA ACATGGAATCCAGAGCCACACAATGGAACCAATGCCCACCTCAGCACAAG TCAACATGGAATCA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG01169.hp2 others(4): Show HG00323.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG03239.hp1 HG03704.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 others(1): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0051	a0001c0001t0007g0192 a0001c0001t0014g0195 a0001c0001t0019g0020 others(3): Show a0001c0001t0007g0192 a0001c0001t0014g0195 a0001c0001t0019g0020 a0001c0001t0019g0144 a0001c0001t0019g0193 a0001c0001t0051g0194	7	442	0.0158	-213	c.109 others(17): Show c.109-9387_109-9175del	TDRP	ENSG00000180190.13	transcript	ENST00000324079.11	protein_coding	1/2			chr8	TogoVar
TENM2_chr5_166974029_168269157	167974030	AGGAAGGA others(206): Show AGGAAGGAGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGA AGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAGGAA GGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAG GAAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGA AGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	52	0.0192	-213	c.948 others(19): Show c.948-18906_948-18694del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TSPEAR_chr21_44492893_44716572	44503150	GGCCGGCC others(206): Show GGCCGGCCTCGGTGAGCCCTTGGGTGGAAGCCGGCCTTGGTGAGCCCACA GGGGGGAAGCAAGGCGCTGGGAGGAGGCCGGCCTTGGTGAGCCCACGGGG GGAAGCAGTGTGCTGGGAGGAAGCTGGCCTCGGTGAGCCCTCGGGGGGAA GCAAGGCTCTGGGAGGAGGCCGGCCTTGGTGAGCCCTCGGGGGGAAGCAA GGCTCTGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18949.hp1 NA18951.hp1 others(2): Show NA18942.hp1 NA18949.hp1 NA18951.hp1 NA19056.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0056 a0001c0001t0002g0113 others(2): Show a0001c0001t0001g0201 a0001c0001t0002g0056 a0001c0001t0002g0113 a0001c0001t0002g0171 a0001c0001t0002g0287	5	292	0.0171	-213	c.185 others(19): Show c.1856+1417_1856+1629del	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11			chr21	TogoVar
TXK_chr4_48061393_48139250	48104283	ATATATAA others(206): Show ATATATAATATATAATATAATATATAATATATATAATATATAATATAATA TATAATATATATAATATATAATATAATATATAATATATATAATATATAAT ATTATATATAATATATATAATATATAATATTATATATAATATATATAATA TATAATATTATATATAATATATATAATATATAATATTATATATTATATAT ATAATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02572.hp2 others(6): Show HG02257.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp2 HG02818.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0001 a0001c0014t0001 a0001c0005t0001 a0001c0014t0001	a0001c0005t0001g0006 a0001c0005t0001g0029 a0001c0005t0001g0030 others(4): Show a0001c0005t0001g0006 a0001c0005t0001g0029 a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0014t0001g0032	9	348	0.0259	-213	c.501 others(15): Show c.501+405_501+617del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
UMODL1_chr21_42066317_42147996	42131438	GAGGAGGG others(206): Show GAGGAGGGAGGTCTCAGCCATGAAGCTGGGGAACAGGAGGAGGGAGGTCT CAGCCATGAAGCTGGGGAACAGGAGGAGGGAGGTCTCGGCCATGAAGCTG GGGAACAGGAGGAGGGAGGTCTCGGCCATGAAGCTGGGGAGCAGGAGGAG GGAGGTCTCGGCCATGAAGCTGGGGAACAGGAGGAGGGAGGTCTTGGCCA TGAAGCTGGGGAAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG02965.hp2 others(2): Show HG01884.hp1 HG02922.hp2 HG02965.hp2 NA19240.hp1 NA20300.hp1	a0032 a0041 a0050 others(2): Show a0032 a0041 a0050 a0051 a0121	a0032c0033 a0041c0147 a0050c0107 others(2): Show a0032c0033 a0041c0147 a0050c0107 a0051c0059 a0121c0137	a0032c0033t0001 a0041c0147t0001 a0050c0107t0001 others(2): Show a0032c0033t0001 a0041c0147t0001 a0050c0107t0001 a0051c0059t0034 a0121c0137t0005	a0032c0033t0001g0066 a0041c0147t0001g0367 a0050c0107t0001g0158 others(2): Show a0032c0033t0001g0066 a0041c0147t0001g0367 a0050c0107t0001g0158 a0051c0059t0034g0357 a0121c0137t0005g0162	5	398	0.0126	-213	c.377 others(19): Show c.3775+1655_3775+1867del	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
XDH_chr2_31329321_31419742	31331023	TGTACTCC others(206): Show TGTACTCCAAAAAGTGCTTTTAACCCCACTGATTCTTTCAATCTTCACAA CAGCCCAGTGAGGTGGATATGATTATCCACACCTATTTTACAGATGAACA GATTGAGGTCAGAGGAGCTAAGCAACCTGCCCAAGAGGGAAGAGGGAAGC AGAGGAGAAGCAGAGGAGCTTGAGCACTCCACACGTGCTTTTATGCTCAG CTCCTAACACCCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03471.hp1 NA19030.hp1 HG02055.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0002 a0001c0003t0002 a0001c0006t0002	a0001c0003t0002g0208 a0001c0006t0002g0209 a0001c0006t0002g0210 a0001c0003t0002g0208 a0001c0006t0002g0209 a0001c0006t0002g0210	3	368	0.0082	-213	c.47 others(11): Show c.4722_*4934del	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding		3297		chr2	TogoVar
ADARB2_chr10_1172313_1742525	1238373	CCTGCATC others(205): Show CCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCT CCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18984.hp1 NA18945.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0054 a0001c0001t0003 a0001c0001t0054	a0001c0001t0003g0102 a0001c0001t0054g0083 a0001c0001t0003g0102 a0001c0001t0054g0083	2	92	0.0217	-212	c.136 others(19): Show c.1361+3546_1361+3757del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238514	CCCCTCTG others(205): Show CCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCC CCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCAT CCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	106	0.0094	-212	c.136 others(19): Show c.1361+3405_1361+3616del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ALDH3B2_chr11_67657155_67679623	67669984	ATGTGTAT others(205): Show ATGTGTATGGGTGTGTGTGTCCACGTGTGTCTGTGTGTGTATGGGTGTCT GTGTGTGTATGGGTGTCTCTATGTGTATGGGTGTGTGTGTCCACATGTGT CTGTGTGTGTATGGGTGTCTGTGTGTGTATGGGTGTCTGTGTGTGTGTAT GGGTGTCTGTGTGTGTATGGGTGTCTGTGTCCACGTGTGTCTGTGTGTGT ATGGGTGTCTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00639.hp2 others(49): Show HG00423.hp1 HG00438.hp1 HG00639.hp2 HG01069.hp1 HG01192.hp2 HG01257.hp1 HG02004.hp1 HG02015.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02559.hp2 HG02886.hp1 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG04199.hp1 HG04228.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp2 NA18949.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18975.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19010.hp2 NA19055.hp1 NA19067.hp1 NA19070.hp1 NA19080.hp2 NA19083.hp2 NA20129.hp1	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0001c0007 a0001c0011 others(2): Show a0001c0001 a0001c0007 a0001c0011 a0007c0008 a0011c0014	a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 a0001c0011t0001 a0007c0008t0001 a0011c0014t0017 a0011c0014t0018	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 others(34): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0006g0176 a0001c0007t0001g0056 a0001c0007t0001g0059 a0001c0011t0001g0055 a0001c0011t0001g0057 a0001c0011t0001g0058 a0007c0008t0001g0031 a0007c0008t0001g0060 a0007c0008t0001g0062 a0007c0008t0001g0063 a0007c0008t0001g0064 a0011c0014t0017g0081 a0011c0014t0018g0080	52	356	0.1461	-212	c.-24 others(19): Show c.-244-2561_-244-2350del	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
BRF1_chr14_105204286_105306001	105275918	TGAGAGGC others(205): Show TGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCTGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG03516.hp2 HG02109.hp2 HG02622.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0062 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0003g0062 a0001c0001t0006g0063 a0001c0001t0006g0064	3	65	0.0462	-212	c.266 others(17): Show c.266-3236_266-3025del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276296	CGGCCCTC others(205): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCT GAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCCGAGAGGG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	54	0.0185	-212	c.266 others(17): Show c.266-3614_266-3403del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276733	AGAGCTGG others(205): Show AGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGCGGCCCTCAC TAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCT CACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGC CCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGG GGCCCTCACTAGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	69	0.0145	-212	c.266 others(17): Show c.266-4051_266-3840del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276773	CGGCCCTC others(205): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCTGAGAGGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	53	0.0189	-212	c.266 others(17): Show c.266-4091_266-3880del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277038	CGGCCCTC others(205): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCTGAGAGGG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	64	0.0156	-212	c.266 others(17): Show c.266-4356_266-4145del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
CA12_chr15_63316378_63386846	63320703	CGACCAGA others(205): Show CGACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGGTAAACT CTAAGACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGGTAA ACTCTACAACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGG TAAACTCTAAGACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCA CGGTAAACTCTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00673.hp1 others(51): Show HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG01123.hp1 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02056.hp1 HG02080.hp2 HG02273.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03540.hp2 HG03688.hp1 NA18522.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0060 a0001c0005t0003	a0001c0001t0001g0070 a0001c0001t0003g0001 a0001c0001t0003g0010 others(48): Show a0001c0001t0001g0070 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0096 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0151 a0001c0001t0003g0215 a0001c0001t0003g0241 a0001c0001t0003g0250 a0001c0001t0003g0256 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0292 a0001c0001t0003g0295 a0001c0001t0003g0298 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0307 a0001c0001t0003g0330 a0001c0001t0014g0097 a0001c0001t0014g0119 a0001c0001t0014g0242 a0001c0001t0014g0293 a0001c0001t0015g0177 a0001c0001t0015g0224 a0001c0001t0015g0228 a0001c0001t0015g0240 a0001c0001t0018g0324 a0001c0001t0018g0325 a0001c0001t0018g0327 a0001c0001t0018g0328 a0001c0001t0027g0231 a0001c0001t0028g0238 a0001c0001t0029g0305 a0001c0001t0030g0232 a0001c0001t0037g0191 a0001c0001t0060g0291 a0001c0005t0003g0260	54	327	0.1651	-212	c.53 others(11): Show c.5370_*5581del	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding		674		chr15	TogoVar
CDK12_chr17_39456486_39539544	39498999	CTTTCTTT others(205): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0008 a0001c0002t0009g0008	1	257	0.0039	-212	c.242 others(19): Show c.2420-2247_2420-2036del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CNN2_chr19_1021608_1044065	1034108	GACGGTGT others(205): Show GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG02451.hp1 others(13): Show HG00597.hp2 HG02056.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02809.hp2 HG02970.hp2 HG03017.hp1 HG03540.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18969.hp1 NA19056.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0034 a0001c0002t0004 a0001c0002t0013 a0001c0003t0010	a0001c0001t0001g0042 a0001c0001t0002g0001 a0001c0001t0002g0026 others(11): Show a0001c0001t0001g0042 a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0184 a0001c0001t0009g0049 a0001c0001t0034g0131 a0001c0002t0004g0001 a0001c0002t0004g0004 a0001c0002t0004g0189 a0001c0002t0013g0004 a0001c0003t0010g0071 a0001c0003t0010g0163 a0001c0003t0010g0164	16	378	0.0423	-212	c.390 others(17): Show c.390+1451_390+1662del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034740	GACGGTGT others(205): Show GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGG GTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGAC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0019 a0001c0001t0001 a0001c0008t0019	a0001c0001t0001g0057 a0001c0008t0019g0125 a0001c0001t0001g0057 a0001c0008t0019g0125	2	351	0.0057	-212	c.391 others(17): Show c.391-1353_391-1142del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
COL18A1_chr21_45400165_45518720	45437440	ACACACTC others(205): Show ACACACTCACTCACAGACAGACACACAGGCACTCTCCTGCACACACTCAC ACTCACACACAGGCACTCTCCTGCACACACACACTCAGACACACAGGCAC TCTCCTGCACACACACACACACAGACACAGGCACTCTCCTGTACACACAC ACACTCACACACTCAGACACACAGGCACTCTCCTGCACACACACTCACAC AGGCACTCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02717.hp1 HG02258.hp2 HG02572.hp2 HG02717.hp1	a0008 a0021 a0008 a0021	a0008c0038 a0021c0091 a0008c0038 a0021c0091	a0008c0038t0001 a0021c0091t0011 a0008c0038t0001 a0021c0091t0011	a0008c0038t0001g0054 a0008c0038t0001g0174 a0021c0091t0011g0053 a0008c0038t0001g0054 a0008c0038t0001g0174 a0021c0091t0011g0053	3	288	0.0104	-212	c.107 others(19): Show c.107-30796_107-30585del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CRLF2_chrX_1185490_1217649	1198187	GGAAGGCA others(205): Show GGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTC CCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCGGGAAGATAGGACACCC TCCCTCCCACCTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18979.hp1 NA19009.hp1 others(3): Show HG03516.hp2 NA18979.hp1 NA19009.hp1 NA19065.hp1 NA19084.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0002c0031	a0001c0001t0001 a0001c0002t0002 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0003 a0002c0005t0001 a0002c0031t0007	a0001c0001t0001g0073 a0001c0002t0002g0115 a0001c0003t0003g0042 others(3): Show a0001c0001t0001g0073 a0001c0002t0002g0115 a0001c0003t0003g0042 a0002c0005t0001g0065 a0002c0005t0001g0072 a0002c0031t0007g0154	6	161	0.0373	-212	c.646 others(15): Show c.646+163_646+374del	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
DCAKD_chr17_45018344_45056632	45051709	CCGGGAGA others(205): Show CCGGGAGAGGTTGGGTGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGG GCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGA GGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGG GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGC GGGCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01516.hp2 others(1): Show HG01074.hp1 HG01081.hp2 HG01516.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0002 a0001c0001t0020 a0001c0002t0002	a0001c0001t0020g0043 a0001c0002t0002g0005 a0001c0002t0002g0130 a0001c0001t0020g0043 a0001c0002t0002g0005 a0001c0002t0002g0130	4	365	0.0110	-212	c.-67 others(9): Show c.-675_-464del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		78		chr17	TogoVar
DCLK2_chr4_150073445_150262438	150195225	TATTATAT others(205): Show TATTATATAAACAATATTATATATTATATATTATATTATATATTATATAT TATATTATATATTATATTATATATTATATATTATATTATATATTATATTA TATATTATATATATTATATAATATTATATATTATATATATTATATAATAT TATATAATATATATATTATATAATATTATATATTATATATATTATATAAT ATTATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp1 NA19043.hp1 HG03453.hp1 HG03486.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0007 a0002c0002t0015 a0002c0002t0018 a0001c0009t0007 a0002c0002t0015 a0002c0002t0018	a0001c0009t0007g0030 a0002c0002t0015g0031 a0002c0002t0018g0114 a0001c0009t0007g0030 a0002c0002t0015g0031 a0002c0002t0018g0114	3	114	0.0263	-212	c.859 others(17): Show c.859+1986_859+2197del	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	3/15			chr4	TogoVar
DEK_chr6_18218860_18269530	18245379	TGAAAGAA others(205): Show TGAAAGAAAAATAAACTCCTGTTTCGAACATTATTAGTAAGGCTGACAAT TATTTCAGCAGAAAACATTCCTGATAACATATGGCAACATTCAGATAAAT TCTAAATACTCGTAAAACTCCACAGTTTGTTTCATACTTTCGAGATACGT ATGCGCTATAAAAACACTAGAAAATAAAAATTGAAGACAGAGGTATTAGG ATAAGATGAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0180 a0001c0001t0013g0180	1	362	0.0028	-212	c.762 others(17): Show c.762+4060_762+4271del	DEK	ENSG00000124795.17	transcript	ENST00000652689.1	protein_coding	7/10			chr6	TogoVar
DLGAP2_chr8_732628_1713476	1235752	CTCACGCA others(205): Show CTCACGCATAGCATCATGTCTAGTTCTGTCTCACACAGAGCATCGTGTCT AGTTCTCTCACATGGCGCCGTGTCCAGTTCTGTCACATGGCTCCGTGTCT GGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTGCCACATGGCGCCGTGT CTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACATGGCGCCGTGT CTAGTTACGTCTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01361.hp1 others(16): Show HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG03486.hp2 HG03492.hp2 HG03710.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0003c0005	a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 others(15): Show a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 a0001c0003t0006 a0001c0003t0017 a0001c0009t0012 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0003c0005t0004	a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0003t0001g0025 others(16): Show a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0003c0005t0004g0037	19	40	0.4750	-212	c.74- others(17): Show c.74-23098_74-22887del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar

Search by Variant

Search

Search Results