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
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(439): Show AGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGAT GGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGG GAGGTGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGAGGGAGGGGAT GGGGAGGGGGAGGGGGAGGGGGGGGAAGGCGGGGAGGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGGAGGGGCCGGTGAGGGGAGGGGAGGGGCAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	276	0.0036	446	c.490 others(465): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGATGGG AGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAG GGGAGGGGATGGGAGGGGGAGGTGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGG AGGGGAGAGGGAGGGGATGGGGAGGGGGAGGGGGAGGGGGGGGAAGGCGG GGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGCCGGTGAGG GGAGGGGAGGGGCATGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C1QTNF12_chr1_1237453_1251722	1245142	T T	TCCTCCTC others(439): Show TCCTCCTCCCCCACTCCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCC ACTCCTCTCCCCTCTTCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTC CCCCACTCCTCTCCCCTCCTCTCCACTCCTCCCCCTCCTCCCCCACTCCT CCCCCCACTGCTCTCCCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCC CCTCCTTCTCCACTCCTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCC TCCTCCCCCCTCTTCCCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCAC TCCTCTCCCCTCTTCCTCCCACTCCCCCCACTCCTCCCCCACTCCTCTCC CCTCTTGCCCCCACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTT CCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	328	0.0031	446	c.178 others(461): Show c.178-646_178-645insGAGAGGAGTGGGGGAGGAGGGGAGAGGAGT GGGGGAGGAGTGGGGGGAAGAGAGGAGAGGAGTGGGGAAGGAGTGGGGGA GGAGTGGGGGCAAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAGTGGG AGGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGTGGGGGGAGGAGG GGGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGGAGGAGTGGGAGGGGAG AGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGG GGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGGGAGGAGTGGAGAGG AGGGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAGTCGGGG GAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAGGGCAGA GGAGTGGGGGAGGAGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C2CD4C_chr19_400445_414147	404775	T T	TGGGGTCC others(439): Show TGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGG GGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGACGGGGT CCTGCCCTGAGGGGTGTGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGT GGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTC CTGCCTTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGG GGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGACGGGGTCCTG CCTTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGG AACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAG GGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	322	0.0031	446	c.23 others(457): Show c.2320_*2321insGTACCCCCTCAGACCCCTCAGGGCAGGACCCCGT CCCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCCCACACCCCTCAGG GCAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCC ACACCCCTCAAGGCAGGACCCCGTCCCCCCCCACACCCCTCAGGGCAGGA CCCCGTTCCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACA CCCCTCAAGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCC CGTTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCTCACAC CCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAAGGCAGGACCCCG TCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCA GGGCAGGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		669		chr19	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(439): Show ATATATATATAATTATATATATAATTTTATATATATAATTATATATATAA TTATATATATATAATTATATATATATAATTATATATTTTTATATATATAA TTATATATATAATTTTATATATATATAATTATATATAATTATATATATAT AATTATATATATTATATATATAATTATATATATATATTATATATATAATT TTATATATATATAATTATATATATAATTTTATATATATAATTATATATAT ATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATATAA TTTTATATATATAATTATATATATATAATTTTATATATATAATTTTATAT ATATATAATTATATATAATTTTATATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	330	0.0030	446	c.907 others(461): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATAAAATTATATATATA TAATTATATATATAAAATTATATATATATAATTATATATATATAAAATTA TATATATAATTATATATATAAAATTATATATATAATTTTATATATAAAAT TATATATATAATTTTATATATATATAATTATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATATATATATATAATTATAT ATATAATATATATAATTATATATATATAATTATATATAATTATATATATA TAAAATTATATATATAATTATATATATAAAAATATATAATTATATATATA TAATTATATATATATAATTATATATATAATTATATATATAAAATTATATA TATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882521	G G	GGGAGAAG others(439): Show GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAG GAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGC CGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0283 a0001c0001t0031g0283	1	288	0.0035	446	c.303 others(465): Show c.303+23600_303+23601insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(439): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT GTATATATACATATATACGTATGTATGTGTATATATACATATATACGTAT GTATGTGTATATATACATATATACGTATGTATGTGTATATATACATATAT ACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01256.hp2 others(14): Show HG00099.hp1 HG00423.hp1 HG01256.hp2 HG02056.hp1 HG02135.hp2 HG02155.hp2 HG02486.hp1 HG02615.hp1 HG02683.hp1 NA18747.hp2 NA18954.hp2 NA18994.hp2 NA19012.hp1 NA19066.hp1 NA19080.hp2 NA19081.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0037 a0001c0001t0044	a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 others(14): Show a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0007g0217 a0001c0001t0037g0310 a0001c0001t0044g0315	17	316	0.0538	446	c.273 others(463): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATATACACATACATACGTATATATG TATATATACACATACATACGTATATATGTATATATACACATACATACGTA TATATGTATATATACACATACATACGTATATATGTATATATACACATACA TACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(439): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTAT ACACATACATATATACATATGTGTGTATACACACATATATACATATGTGT GTATACACATACATATATACATATGTGTGTGTATACACACATATATACAT ATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATACACAC ACATATATGTATATATGTATGTGCATACACACACACACATGTATATATGT ATGTGTATACACATACATATATACATATGTGTGTGTATACACATACATAT ATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0012 a0001c0001t0031g0012	1	168	0.0060	446	c.253 others(465): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA TATGTATATATGTATGTGTATACACACACATATATGTATATGTGTATGTG CATACACACACACACATGTATATATGTATGTGTATACACACACATATGTA TATATGTATGTGTATACACATACATATATACATGTGTGTGTGTGTATGCA CATACATATATACATATATGTGTGTGTATACACATACATATATACATATG TGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACACATA TGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATACACA CATATGTATATATGTATGTGTATACACACACATATGTATATATGTATGTG CATACACACACATATGTATATATGTATGTGTATACACACACACATATGTA TATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(439): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01099.hp1 others(12): Show HG00639.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01261.hp1 HG01346.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02293.hp2 HG02602.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0002g0015 others(7): Show a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0166 a0001c0002t0002g0169 a0001c0002t0002g0175	15	258	0.0581	446	c.403 others(461): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCT TTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCT TTCTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(439): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAGAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	258	0.0039	446	c.403 others(461): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTCT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCT TTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCT TTCTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(439): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCC TCCTCTTCCTCCTCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTT CCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	270	0.0037	446	c.162 others(467): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(439): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCC TCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTT CCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0041 a0001c0001t0012g0041	1	270	0.0037	446	c.162 others(467): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(439): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCC TCCTCTTCCTCCTCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTT CCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0012 a0001c0001t0011g0012	1	270	0.0037	446	c.162 others(467): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(439): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCC TCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTT CCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0079 a0001c0001t0035g0079	1	270	0.0037	446	c.162 others(467): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(439): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCC TCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTT CCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0224 a0001c0002t0009g0224	1	270	0.0037	446	c.162 others(467): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(439): Show TCTGTCCACCCGTCCGTCCATCCATCCCCCCCGCCCACCCATCTGTCCAC CCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCC GCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCAT CCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCC CCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCC ACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCAT CTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCC ATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0131 a0001c0002t0004g0131	1	348	0.0029	446	c.13 others(457): Show c.1315_*1316insCTGTCCACCCGTCCGTCCATCCATCCCCCCCGCC CACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTG TCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACC CACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCG TCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACC CATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCA TCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTC CACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CSMD1_chr8_2930361_4999914	3411693	C C	CACGCGTG others(439): Show CACGCGTGTATATATACGTGTATATATACGCGTGTATATATACACATATA TATACATATATACACGTGTATATATACACGTGTATATACATGTGTATATA TACGTATATATACGTGTGTATATATACGTATATATATACGTGTGTATATA TACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCATA TATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCA TATATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTG CATATATACGTATATATATACGTGTGCATATATATATACGTATATATATA TACGTGTATGTATACGTATATATATACGTATATATACACACGTATATATA CACGTATATATATACGTATATATACACGTATATATATACGTATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0047 a0002c0035t0047	a0002c0035t0047g0076 a0002c0035t0047g0076	1	126	0.0079	446	c.156 others(465): Show c.1562-2089_1562-2088insATATATACGTATATATATACGTGTAT ATATACGTATATATATACGTGTATATATACGTGTGTATATATACGTATAT ATATACGTATACATACACGTATATATATATACGTATATATATATGCACAC GTATATATATACGTATATATGCACACGTATATATATACGTATATATGCAC ACGTATATATATACGTATATATGCACACGTATATATATACGTATATATGC ACACGTATATATATACGTATATATGCACACGTATATATATACGTATATAT GCACACGTATATATATACGTATATATACACACGTATATATATACGTATAT ATACACACGTATATATACGTATATATACACATGTATATACACGTGTATAT ATACACGTGTATATATGTATATATATGTGTATATATACACGCGTATATAT ACACGTATATATACACGCGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(439): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGG GGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGG AGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0013 a0002c0048t0013	a0002c0048t0013g0015 a0002c0048t0013g0015	1	126	0.0079	446	c.416 others(467): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCC TCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCC CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACAT CCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CUX2_chr12_111029165_111355554	111326223	T T	TTTTGTTT others(439): Show TTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTT GCGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATA GTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGG AGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTA TAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGG GGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTT TATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATG GGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	100	0.0100	446	c.292 others(465): Show c.2926+3680_2926+3681insGTTTATAGTGTTGCGGTGGGGGAGGG GTTGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTAT AGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGGGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTG TTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGG GGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTT TGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGT GGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGGTTGGTT TTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGT GGTGGGGGAGGGGTGGGTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DPEP1_chr16_89608642_89643433	89619210	C C	CCCTGCCC others(439): Show CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	250	0.0040	446	c.-10 others(465): Show c.-107+5493_-107+5494insTGCCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC TCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC GCTCCCCTCCCTGCAGCTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(439): Show ATATATATAGTATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATATAGTATATATATATAGTATATA TATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATATA GTATATATGTATATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATAGTATATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0127 a0001c0002t0006g0127	1	316	0.0032	446	c.355 others(465): Show c.355-25607_355-25606insGTATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATATAGTATA TATATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATA TATATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(439): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATATGACTATATATTATATATTTATATAATATATGACTATATATTA TATATTTATATAATATATGACTATATATTATATATTTATATAATATATGA CTATATATTATATATTTATATAATATATGACTATATATTATATATTTATA TAATATATGACTATATATTATATATTTATATAATATATTTATATAAATAC ATTATATTTTATATATTTATATAAATACATTATATTTTATATATTTATAT AAATATATTATATTTTATATAATATATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	290	0.0035	446	c.-53 others(465): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATAAATATATAATATATAGTCATATATTATATA AATATATAATATATAGTCATATATTATATAAATATATAATATATAGTCAT ATATTATATAAATATATAATATATAGTCATATATTATATAAATATATAAT ATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(439): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGGAGGGAGGGAA GGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGGGGAGG AGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAG GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAA GGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(24): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00735.hp2 HG02074.hp1 HG02135.hp1 HG02683.hp2 HG02698.hp1 HG04199.hp2 NA18941.hp1 NA18945.hp1 NA18951.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18983.hp2 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19060.hp1 NA19064.hp2 NA19079.hp2 NA19087.hp2 NA20905.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0021 a0004c0005 a0004c0009 others(1): Show a0002c0021 a0004c0005 a0004c0009 a0005c0020	a0002c0021t0001 a0004c0005t0001 a0004c0009t0001 others(1): Show a0002c0021t0001 a0004c0005t0001 a0004c0009t0001 a0005c0020t0001	a0002c0021t0001g0179 a0002c0021t0001g0250 a0004c0005t0001g0021 others(24): Show a0002c0021t0001g0179 a0002c0021t0001g0250 a0004c0005t0001g0021 a0004c0005t0001g0022 a0004c0005t0001g0088 a0004c0005t0001g0089 a0004c0005t0001g0162 a0004c0005t0001g0165 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0175 a0004c0005t0001g0180 a0004c0005t0001g0247 a0004c0005t0001g0248 a0004c0005t0001g0249 a0004c0005t0001g0251 a0004c0005t0001g0252 a0004c0005t0001g0253 a0004c0009t0001g0166 a0004c0009t0001g0167 a0004c0009t0001g0168 a0004c0009t0001g0170 a0004c0009t0001g0171 a0004c0009t0001g0176 a0005c0020t0001g0161 a0005c0020t0001g0169	27	290	0.0931	446	c.757 others(463): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT TCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTT CCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCC TACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCT TTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCC TTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCC CTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EIF3B_chr7_2349827_2385745	2377681	C C	CTCTTCTG others(439): Show CTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0285 a0011c0022t0001g0285	1	384	0.0026	446	c.215 others(463): Show c.2154+606_2154+607insTCTTCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCC GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC TCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EXOC2_chr6_480154_698139	519126	C C	CCACCGAG others(439): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACCCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACCCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAACCACCACG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18998.hp1 HG02083.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0057 a0001c0004t0001g0003 a0001c0002t0002g0057 a0001c0004t0001g0003	2	272	0.0074	446	c.238 others(467): Show c.2380+13342_2380+13343insCGTGGTGGTTTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTAGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(439): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTATATATACACTATATATATAGTATATATACACTATA TATATAGTATATATACACTATATATATAGTATATATACACTATATATATA GTATATATACACTATATATATAGTATATATACACTATATATACACTATAT ATGTATATATATACATATATAGTGTATATATAGTGTATATATACACTGTA TATGTATATATAGTGTATATATACACTATATATACACTGTATATGTATAT ATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATAT ACACTATACACTGTATATGTATATATAGTGTATATATACACTATACACTG TATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01256.hp1 HG02055.hp1 others(10): Show HG01081.hp1 HG01256.hp1 HG02055.hp1 HG02258.hp1 HG02602.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0114 others(10): Show a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0184 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0005g0071 a0001c0001t0005g0079 a0001c0001t0005g0083 a0001c0001t0014g0125 a0001c0001t0015g0098	13	204	0.0637	446	c.114 others(465): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATAGTGTATATATACACTATATATACATATACAGTGTATATATAGTGTA TATATACACTATATATACATATACAGTGTATATATACACTATATATACAC TATATATGTATATATATACATATATAGTGTATATATAGTGTATATATACT ATATATATAGTGTATATATACTATATATATAGTGTATATATACTATATAT ATAGTGTATATATACTATATATATAGTGTATATATACTATATATATAGTG TATATATACTATATATAGTGTATATATACTATACATATATAGTGTATATA TAGTGTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(439): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTGTATATACACTATATATATAGTGTATATACACTATA TATATAGTATATATACACTATATATATAGTATATATACACTATATATATA GTATATATACACTATATATATAGTATATATACACTATATATACACTATAT ATGTATATATATACATATATAGTGTATATATAGTGTATATATACACTGTA TATGTATATATAGTGTATATATACACTATATATACACTGTATATGTATAT ATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATAT ACACTATACACTGTATATGTATATATAGTGTATATATACACTATACACTG TATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	204	0.0049	446	c.114 others(465): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATAGTGTATATATACACTATATATACATATACAGTGTATATATAGTGTA TATATACACTATATATACATATACAGTGTATATATACACTATATATACAC TATATATGTATATATATACATATATAGTGTATATATAGTGTATATATACT ATATATATAGTGTATATATACTATATATATAGTGTATATATACTATATAT ATAGTGTATATATACTATATATATAGTGTATATACACTATATATATAGTG TATATACACTATATATAGTGTATATATACTATACATATATAGTGTATATA TAGTGTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALNT9_chr12_132191372_132334589	132241034	A A	ACTTCCCG others(439): Show ACTTCCCGGGGCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTC CCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGG GCCGTCCCTATACCCATTAAACACACAACACACCCCCTTCCCGGGGCCCT CCCTATCCCCATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTA TACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATACCCAT TACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACA CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	183	0.0055	446	c.107 others(465): Show c.1077+6875_1077+6876insGGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGT GTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGTT GTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTG TTTAATGGGTATAGGGACGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGG ATAGGGAGGGCCCCGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(439): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACGCACACCACACACATATACACACATACACCCATGCA CACACATCATACACACACAAACCACACATACCACACACATACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19083.hp2 NA19068.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	414	0.0048	446	c.32 others(457): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGTATGCGTATA TGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGTGTGTGTATG ATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGTGTGCATGTG TGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGATGTGTGTGTA TGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGT GTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGTGTGTGTGTA TGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143218163	A A	ACCCACCA others(439): Show ACCCACCACCACCCACCACAAGGCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAAC ACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCC AACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCACACC ACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCAC CCCAATACCACCCCCAACACCACCCCCAACACCACCCCCAACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	106	0.0094	446	c.26 others(457): Show c.2645_*2646insCCCACCACCACCCACCACAAGGCCCAACACCACC CCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCC AACACCATCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCAACACCACCCCCACACCACCCCAACACCACCCCCAACACCATC CCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAA CACCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCAATACCACCCCCAACACCACCCCCAACACCAC CCCCAACACCAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		994		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073912	A A	AATATATA others(439): Show AATATATATATTTATATTTATTTATATATATATTTATATATATATAAATA TATATATTTATATATATATAAATATATATATTTATATATATATAAATATA TATATTTATATATATATAAATATATATATATATTTATATATATAAATATA TATATATAAATATATATATTTATATATATAAATATATATATATAAATATA TATTTATATATATAAATATATATATATAAATATATATATATATAAATATA TATATTTATATATATAAATATATATTTATATATATAAATATATATATTTT TATATAAATATATATATTTATATATATAAATATATATATTTATATATATA AATATATATATTTATATATATAAATATATATATTTATATATATATTTATA TTTATAAATATATATATTTATATATATATTTATATTTATATATATTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18906.hp1 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0030 a0001c0001t0017 a0001c0001t0030	a0001c0001t0017g0189 a0001c0001t0030g0063 a0001c0001t0017g0189 a0001c0001t0030g0063	2	208	0.0096	446	c.-97 others(463): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATATTTAT ATATATATAAATATATATATTTATATATATATAAATATATATATTTATAT ATATATAAATATATATATTTATATATATATAAATATATATATATATTTAT ATATATAAATATATATATATAAATATATATATTTATATATATAAATATAT ATATATAAATATATATTTATATATATAAATATATATATATAAATATATAT ATATATAAATATATATATTTATATATATAAATATATATTTATATATATAA ATATATATATTTTTATATAAATATATATATTTATATATATAAATATATAT ATTTATATATATAAATATATATATTTATATATATAAATATATATATTTAT ATATATATTTATATTTATAAATATATATATTTATATATATATTTATATTT ATATATATTTATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATA others(439): Show CATATATATGTACACATATATATACATATATATGTACACATATATATACA TATATATGTACACATATATATACATATATATGTACACATATATATACATA TATATGTACACATATATACATATATATGTACACACATATATACACATATA TATGTACACACATATATACACATATATATGTACACACATATATACACATA TATATGTACACACATATATACACATATATATGTACACACATATATACACA TATATATGTACACACATATATACACATATATATGTACACACATATATATA CATATATATGTACACACATATATACATATATATGTACACATATATATATA CATATATATGTACACATATATATATACATATATATGTACACATATATATA TACATATATATGTACACATATATATATACATATATATGTACACATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0046 a0002c0002t0015g0046	1	418	0.0024	446	c.167 others(463): Show c.1678-384_1678-383insATATGTACACATATATATACATATATAT GTACACATATATATACATATATATGTACACATATATATACATATATATGT ACACATATATATACATATATATGTACACATATATACATATATATGTACAC ACATATATACACATATATATGTACACACATATATACACATATATATGTAC ACACATATATACACATATATATGTACACACATATATACACATATATATGT ACACACATATATACACATATATATGTACACACATATATACACATATATAT GTACACACATATATATACATATATATGTACACACATATATACATATATAT GTACACATATATATATACATATATATGTACACATATATATATACATATAT ATGTACACATATATATATACATATATATGTACACATATATATATACATAT ATATGTACACATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
IDE_chr10_92446684_92579093	92524442	A A	ATATAATA others(439): Show ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATATTATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATATATAATATATATTATATTATATATAATATATTTTATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATTTTATATAATATATAATATATATT ATATTATATATAATATATAATATATATTATATTATATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	314	0.0032	446	c.661 others(463): Show c.661+7305_661+7306insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATATAATATAATATATAT TATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAATATATATTATATATTATAT AAAATATATTATATATAATATAATATATATTATATAATATATAAAATATA TTATATATAATATAATATATATTATATATTATATAAAATATATTATATAT AATATAATATATATTATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(439): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCCTCCCCCTCCCCTCCCCC CTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTC CCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATC CCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCTCCT TCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCT CTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTG TCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0145 a0004c0009t0002g0145	1	158	0.0063	446	c.11 others(467): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCC TCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCC CCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCA TCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCC TCTCCCCCTCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTC TCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCC CCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCC CCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(439): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCC TCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCC CCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCC CCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCT TCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCT CTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTG TCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02132.hp1 HG02132.hp2 others(3): Show HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG03834.hp1 NA19004.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0040 a0003c0003 a0004c0007 others(3): Show a0001c0040 a0003c0003 a0004c0007 a0004c0009 a0004c0028 a0004c0033	a0001c0040t0002 a0003c0003t0012 a0004c0007t0002 others(3): Show a0001c0040t0002 a0003c0003t0012 a0004c0007t0002 a0004c0009t0010 a0004c0028t0002 a0004c0033t0002	a0001c0040t0002g0025 a0003c0003t0012g0063 a0004c0007t0002g0121 others(3): Show a0001c0040t0002g0025 a0003c0003t0012g0063 a0004c0007t0002g0121 a0004c0009t0010g0055 a0004c0028t0002g0065 a0004c0033t0002g0029	6	158	0.0380	446	c.11 others(467): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCT CCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCCC CTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCAT CCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTC TCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCC CCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCC CCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234244	A A	AGCACTTT others(439): Show AGCACTTTGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGA CCAGCCTGGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAAT TAGGCAGGTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTG AAGTGGGAGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACG ATCGCACCACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAA AACCTTCCCTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAAA TTTTTAGATTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTT ATTTAATGCAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0200 a0003c0003t0001g0200	1	310	0.0032	446	c.448 others(465): Show c.448-14262_448-14261insGGATTACAAGCGTGAACCACCATGCC CAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTTTAACGA TATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAGGTTTTT TTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTAAGAGGAGGTTTCTCTCTGTTGATGAG GCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTACCTCCCAT GCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGACTACAGGC ATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGAAACAGGGTC TCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCGTTTCACCT GCCTCAGCCTCCCAAAGTGC	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(439): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAAAACCT TCCCTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAAATTTTT AGATTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTTATTTA ATGCAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCCTAGCACTT TGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGACCAGCCT GGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAATTAGGCAG GTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGTGGG AGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACGATCGCAC CACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18981.hp1 NA19002.hp2 others(1): Show HG02040.hp2 NA18981.hp1 NA19002.hp2 NA19068.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0009 a0003c0003 a0008c0009	a0003c0003t0001 a0008c0009t0001 a0003c0003t0001 a0008c0009t0001	a0003c0003t0001g0195 a0003c0003t0001g0201 a0003c0003t0001g0207 others(1): Show a0003c0003t0001g0195 a0003c0003t0001g0201 a0003c0003t0001g0207 a0008c0009t0001g0187	4	310	0.0129	446	c.448 others(465): Show c.448-14511_448-14510insTTTTTTAAGAGGAGGTTTCTCTCTGT TGATGAGGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTAC CTCCCATGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGAC TACAGGCATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGAAA CAGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCGT TTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACCACC ATGCCCAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTTT AACGATATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAGG TTTTTTTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234660	T T	TGGTGGTT others(439): Show TGGTGGTTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGA AACGCTGAGCCCAGAGTTTGAGACCAGCCTGGGCAACATGGCGAGACCCT GTTTCTACAAGAAATACAAAAATTAGGCAGGTGTTATGGTGCATGCCTGT AGTCCCAGCTACTTGAGAGGCTGAAGTGGGAGGATTGCTTGAGCATGGGA GGTAGAGGCTGCAGTGAGCCACGATCGCACCACTGCACTCCAGCCTCATC AACAGAGAGAAACCTCCTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAACACCAAAAACAAAAACCTTCCCTATCCTATAAAAAAAAACCT TTTAATATGTTAATACTTAAATTTTTAGATTTGCTAAAAATATCGTTAAA GGCCTATAAAAAGAACGAGTTATTTAATGCAATATTAAGCTGGGCAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19085.hp2 NA19077.hp1 NA19085.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0014 a0003c0003 a0011c0014	a0003c0003t0001 a0011c0014t0001 a0003c0003t0001 a0011c0014t0001	a0003c0003t0001g0181 a0011c0014t0001g0177 a0003c0003t0001g0181 a0011c0014t0001g0177	2	310	0.0065	446	c.448 others(465): Show c.448-14678_448-14677insGTGCCCAGCTTAATATTGCATTAAAT AACTCGTTCTTTTTATAGGCCTTTAACGATATTTTTAGCAAATCTAAAAA TTTAAGTATTAACATATTAAAAGGTTTTTTTTTATAGGATAGGGAAGGTT TTTGTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT AAGAGGAGGTTTCTCTCTGTTGATGAGGCTGGAGTGCAGTGGTGCGATCG TGGCTCACTGCAGCCTCTACCTCCCATGCTCAAGCAATCCTCCCACTTCA GCCTCTCAAGTAGCTGGGACTACAGGCATGCACCATAACACCTGCCTAAT TTTTGTATTTCTTGTAGAAACAGGGTCTCGCCATGTTGCCCAGGCTGGTC TCAAACTCTGGGCTCAGCGTTTCACCTGCCTCAGCCTCCCAAAGTGCTAG GATTACAAGCGTGAACCACC	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(439): Show CGCCCCCACAGCCGCCCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCC CACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19074.hp2 NA18999.hp1 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0121 a0001c0003t0001g0072 a0001c0003t0001g0121	2	312	0.0064	446	c.-41 others(461): Show c.-41+629_-41+630insCCCCCACAGCCGCCCCCCCCACAGCCGCCC CCCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCC ACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCC CCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGC CCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(439): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATAATA TATAAAATATATATTATATAAAATATATATAAAATATATAATATATAAAA TATATATTATATATAAAATATATATTATATATAAAATATATACTATATAT AAAATATATACTATATATAAAATATATACTATATATAAAATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0144 a0001c0002t0048g0144	1	260	0.0039	446	c.963 others(465): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATAATATATAAAATATATATTATATAAAATATATATAAAATA TATAATATATAAAATATATATTATATATAAAATATATATTATATATAAAA TATATACTATATATAAAATATATACTATATATAAAATATATACTATATAT AAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442902	C C	CCACCACC others(439): Show CCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACC ATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCAT CACCACCATCACCATCACCACCAACATCACATCAACACCATGACCACCAT CACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCA CCATCACTATCACCACCATCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCATCACCATCACCACCACCACCACCATCAC CACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTA CCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCACC ACCACCATCACCATCACCACCACCATCACCATTATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19067.hp2 HG00558.hp2 NA19067.hp2	a0002 a0002	a0002c0001 a0002c0018 a0002c0001 a0002c0018	a0002c0001t0039 a0002c0018t0006 a0002c0001t0039 a0002c0018t0006	a0002c0001t0039g0264 a0002c0018t0006g0006 a0002c0001t0039g0264 a0002c0018t0006g0006	2	330	0.0061	446	c.691 others(461): Show c.691-372_691-371insATGGTGGTGGTGATAATGGTGATGGTGGTG GTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGT GGTGGTAATGGTGGTGGTAATGGTGATGGTGGTGGTGGTGATGGTGATGG TGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGGTGATAGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGA TGGTTTTGGTGGTGGTGATGGTGGTCATGGTGTTGATGTGATGTTGGTGG TGATGGTGATGGTGGTGATGGTGATGGTAATGGTGGTGATGGTGGTGGTG GTGGTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGAT GGTGATGGTGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442926	T T	TCACCATC others(439): Show TCACCATCACCACCACCATCACCATCATCACCATCACCACCACCACCACC ATCACCACCATTACCATCACCATCACCACCATCACCATCACCACCAACAT CACATCAACACCATGACCACCATCACCACCACCAAAACCATCACCACCAC CATCACCACCACCACCACCACCACCATCACTATCACCACCATCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACC ATCACCACCACCACCACCATCACCACCATCACCATCACCACCATCACCAT CACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCACCA TCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCATC ACCATTATCACCACCACCATCACCACCATCACCACCATCACCACCAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	330	0.0030	446	c.691 others(461): Show c.691-396_691-395insGTGGTGGTGATGGTGGTGATGGTGGTGATG GTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATG GTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATAGTGATGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGATGGTTTTGGTGGTGGTGATGGTG GTCATGGTGTTGATGTGATGTTGGTGGTGATGGTGATGGTGGTGATGGTG ATGGTAATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGAT GGTGGTGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(439): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCG GGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGG GAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGG GAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp1 HG01167.hp2 HG02965.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0016 a0006c0008t0016	a0006c0008t0016g0169 a0006c0008t0016g0170 a0006c0008t0016g0169 a0006c0008t0016g0170	2	375	0.0053	446	c.317 others(463): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGA ACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGG CGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(439): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACACCACA CACACCACACACATATACGCATACACCCATACACACACATCATACACACA CATACACCACACACGCACACCACACACATATACACACATACACCCATGCA CACACATCATACACACACAAACCACACATACCACACACATACACCAC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19083.hp1 NA19068.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	400	0.0050	446	c.-39 others(463): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGTATG CGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGTGTG TGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGTGTG CATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGATGTG TGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGTGTG TGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGTGTG TGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(439): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGCTGGGGGTGATGACGGTAGGG GTGATGACGGTGATGATGGGGGTGGGGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGG GTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGATGGTGGGGGTGATGATGGTGGGGGTGATGGTGGGGGTGG GGGTGGGGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGG GTGGTGGGGGTGGGGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0060 a0060	a0060c0071 a0060c0071	a0060c0071t0001 a0060c0071t0001	a0060c0071t0001g0042 a0060c0071t0001g0042	1	186	0.0054	446	c.956 others(463): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCATCATCACCC CCACCCCCACCCCCACCACCCTCACCATCATCACCCCCACCCCCACCATC ATCACCCCCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCAC CCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCCCCACCC CCATCATCACCGTCATCACCCCTACCGTCATCACCCCCAGCCCCACCATC ACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(439): Show TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGA CGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGG TGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0045 a0001c0013t0001g0045	1	294	0.0034	446	c.153 others(465): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCATCCCGTGACACCACTGCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATC CCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(439): Show TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGA CGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGG TGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGT GCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01928.hp1 HG01934.hp1 others(1): Show HG00642.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0005t0001g0113	4	294	0.0136	446	c.153 others(465): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACTGCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATC CCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(439): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	294	0.0034	446	c.153 others(465): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(439): Show ACATCTACCTCCACACCCGCGCTTACACCCACACTTACATCTACCTCCAC ACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCACA CCCACACTTACACCCACCCACACTCACACCCACGCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTC CACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACC TCCACGCCCACACTCACACCCACCCACACTTACACCCACACTTACATCTA CCTCCACACCCACACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	290	0.0035	446	c.129 others(465): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTA CACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACACTCAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(439): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAGGGGAAAGGGGAGGGGAC AGGGGAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAGAGGG GAGGGGAGAGGGGAGGGGAGGGGAGAGGGGAGAGGGGAGGGGAGAGGGGA GAGGGGAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGG GGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGG AGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	104	0.0096	446	c.313 others(467): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCCCCTGTCCCCTCCCCTCCCCTGTCCCCTCCCCTTTCCCCTCCCCTCCC CTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTT CTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTC TCCTGCCCTCTACCCTCCCCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTC CTCCCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(439): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATA CGTAGTTTTACATAGTTATATAGTTATAACTATATGTAGTTATATACAAT TATATATAATTATATATAATTTATATACTTATAAATATGTAATTATATAT GTTATAATTATAAATATATATAATATAAATATACAATACATTTTATATAA TATAGAATATATAGTATAATACAAAATATACATTATAATATATTATAATA TATAATATATAATACATATATTATATAAAAATACTATAATATATAATAAT ATATATTATAATATATATAATATATAATAATATATTATAATATATATTAT AATATAGTATAATATATATATTATAATTTATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0072 a0072	a0072c0055 a0072c0055	a0072c0055t0001 a0072c0055t0001	a0072c0055t0001g0108 a0072c0055t0001g0108	1	152	0.0066	446	c.299 others(467): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATATAGTTAT AACTATATGTAGTTATATACAATTATATATAATTATATATAATTTATATA CTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATATA AATATACAATACATTTTATATAATATAGAATATATAGTATAATACAAAAT ATACATTATAATATATTATAATATATAATATATAATACATATATTATATA AAAATACTATAATATATAATAATATATATTATAATATATATAATATATAA TAATATATTATAATATATATTATAATATAGTATAATATATATATTATAAT TTATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results