Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(227): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00642.hp1 others(13): Show HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01358.hp1 HG01934.hp1 HG01978.hp2 HG02735.hp1 HG02965.hp2 HG03453.hp1 NA18950.hp2 NA19062.hp2 NA19066.hp2 NA19067.hp2 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0002g0018	16	384	0.0417	234	c.-41 others(245): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(227): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	384	0.0026	234	c.-41 others(245): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCGG others(227): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03471.hp1 NA20300.hp1 HG01891.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0011 a0001c0001t0001g0150 a0001c0009t0001g0011 a0001c0001t0001g0011 a0001c0001t0001g0150 a0001c0009t0001g0011	3	384	0.0078	234	c.-41 others(245): Show c.-4100_-4099insCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCGGT others(227): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	384	0.0026	234	c.-41 others(245): Show c.-4100_-4099insCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCGGTG others(227): Show CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	384	0.0026	234	c.-41 others(245): Show c.-4100_-4099insCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCS1_chr9_130167404_130242303	130221881	A A	AATATAAA others(227): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATAACATAATATAAATTATGTATATATAAATATATATA CATAATATAAATTATGTATATATAAATATATATACATAAATATAAATTAT GTATATATAAATATATATACATAAATATAAAATTATGTATATATAAATAT ATATACATAAATATAAATTATGTATATAAATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0136 a0001c0001t0136	a0001c0001t0136g0117 a0001c0001t0136g0117	1	348	0.0029	234	c.308 others(249): Show c.308-766_308-765insTAAATTATGTATATATAAATATATATACAT AATATAAATTATGTATATATAAATATATATAACATAATATAAATTATGTA TATATAAATATATATACATAATATAAATTATGTATATATAAATATATATA CATAAATATAAATTATGTATATATAAATATATATACATAAATATAAAATT ATGTATATATAAATATATATACATAAATATAAATTATGTATATAAATATA TATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDUFV3_chr21_42888309_42918299	42894408	A A	AATATATT others(227): Show AATATATTATATAAATATATATTATATAATATATAATATATTATATAAAT ATATATTATATAATATATAATATATTATATAATATATATAATATATAATA TATTATATAAATATATATAATATATAATATATTATATAAATATATATAAT ATATAATATATTATATAAATATATATTATATATAATATATTATATAAATA TATATTATATATAATATATTATATAAATATATATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0151 a0001c0001t0074g0151	1	348	0.0029	234	c.48+ others(249): Show c.48+1033_48+1034insTATATAAATATATATTATATAATATATAAT ATATTATATAAATATATATTATATAATATATAATATATTATATAATATAT ATAATATATAATATATTATATAAATATATATAATATATAATATATTATAT AAATATATATAATATATAATATATTATATAAATATATATTATATATAATA TATTATATAAATATATATTATATATAATATATTATATAAATATATATTAT ATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241805301	G G	GCCCAGGA others(227): Show GCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	319	0.0031	234	c.-39 others(245): Show c.-3977_-3976insCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCC CTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3891		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807607	T T	TCCCTCCC others(227): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAG CCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	319	0.0031	234	c.-16 others(245): Show c.-1671_-1670insCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1585		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCT others(227): Show TCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGG CCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0044 a0002c0003t0002g0044	1	319	0.0031	234	c.-16 others(245): Show c.-1628_-1627insCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC TCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(227): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCAC CCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCCCACCCCC ACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCACCCTCA CCCTCACCCCACCCTCACCCTCACCCCCACCCCACCCCCACCCTCACCCT CACCCCCATCCTCACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18956.hp1 NA18994.hp1 others(1): Show HG00544.hp1 NA18956.hp1 NA18994.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0045 a0001c0001t0002g0117 a0001c0002t0001g0116 others(1): Show a0001c0001t0002g0045 a0001c0001t0002g0117 a0001c0002t0001g0116 a0001c0002t0001g0145	4	316	0.0127	234	c.133 others(255): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGG GTGGGGGTAGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGTGAGG GTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGG TGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFILZ_chr19_8625633_8686151	8656392	C C	CTGAAGCC others(227): Show CTGAAGCCCCCTTCTTCCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTC TCCCTGAAGCCCACCTCCTCCCTGAAGCCCACCTTCTCCCTGAAGCCCAC CTCTTCCCTGAAGCCCACCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTG AAGCCCACCTCTTCCCTGAAGCCCACCTTCTTCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0073 a0003c0003t0073	a0003c0003t0073g0080 a0003c0003t0073g0080	1	366	0.0027	234	c.-16 others(255): Show c.-163-18159_-163-18158insTGAAGCCCCCTTCTTCCTGAAGCC CACCTTCTCCCTGAAGCCCACCTTCTCCCTGAAGCCCACCTCCTCCCTGA AGCCCACCTTCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTTC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTGAAGCCCACCTC TTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTTCCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5			chr19	TogoVar
NGEF_chr2_232873701_233018256	232900423	T T	TAGACACA others(227): Show TAGACACATGCTCTCAGTCACTCATATACACGTTCACTCACATTCTCACA CACACGCTCACAGTCACTCATATACACGTTCACTCACATTCACACACGCT CTCACAGTCACTCATATACACGTTCACTCACATTCACACACACACGCTCT CAGTCACTCATATACACGTTCACTCACATTCACACACACACGCTCTCAGT CACTCATATACACGTTCACTCACATTCACTCACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG01069.hp1 others(50): Show HG00544.hp1 HG00558.hp2 HG01069.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02145.hp1 HG02148.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02976.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03710.hp2 HG03831.hp1 HG06807.hp1 NA18940.hp2 NA18942.hp2 NA18950.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18983.hp2 NA18992.hp1 NA19004.hp1 NA19005.hp1 NA19079.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0010 a0003c0019 a0005c0017	a0001c0001t0001 a0001c0002t0003 a0001c0002t0012 others(9): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0012 a0001c0002t0016 a0001c0002t0035 a0001c0004t0003 a0001c0004t0004 a0001c0004t0014 a0002c0010t0003 a0002c0010t0012 a0003c0019t0003 a0005c0017t0003	a0001c0001t0001g0049 a0001c0001t0001g0337 a0001c0002t0003g0012 others(50): Show a0001c0001t0001g0049 a0001c0001t0001g0337 a0001c0002t0003g0012 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0127 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0163 a0001c0002t0003g0167 a0001c0002t0003g0202 a0001c0002t0003g0211 a0001c0002t0003g0215 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0262 a0001c0002t0003g0268 a0001c0002t0003g0282 a0001c0002t0003g0290 a0001c0002t0003g0298 a0001c0002t0003g0305 a0001c0002t0003g0309 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0352 a0001c0002t0012g0056 a0001c0002t0012g0063 a0001c0002t0012g0068 a0001c0002t0012g0200 a0001c0002t0012g0225 a0001c0002t0016g0023 a0001c0002t0035g0361 a0001c0004t0003g0168 a0001c0004t0003g0189 a0001c0004t0003g0194 a0001c0004t0003g0205 a0001c0004t0003g0206 a0001c0004t0003g0209 a0001c0004t0003g0216 a0001c0004t0004g0196 a0001c0004t0014g0187 a0001c0004t0014g0208 a0002c0010t0003g0139 a0002c0010t0003g0292 a0002c0010t0003g0297 a0002c0010t0003g0322 a0002c0010t0003g0323 a0002c0010t0003g0326 a0002c0010t0003g0327 a0002c0010t0012g0296 a0003c0019t0003g0191 a0005c0017t0003g0260	53	362	0.1464	234	c.829 others(251): Show c.829-5508_829-5507insGTGTGAGTGAATGTGAGTGAACGTGTAT ATGAGTGACTGAGAGCGTGTGTGTGTGAATGTGAGTGAACGTGTATATGA GTGACTGAGAGCGTGTGTGTGTGAATGTGAGTGAACGTGTATATGAGTGA CTGTGAGAGCGTGTGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGA GCGTGTGTGTGAGAATGTGAGTGAACGTGTATATGAGTGACTGAGAGCAT GTGTCT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATATA others(227): Show TACATATATATTTATGTATGTGCATACATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATTTATGTGCATACATATATATATGTATGTGCA TACATATATATATTTATGTATGTGCATAAATATATATATATTTATGTATG TGCATAAATATATATATATTTATGTATGTGCATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	44	0.0227	234	c.707 others(255): Show c.707-189032_707-189031insCATATATATTTATGTATGTGCATA CATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATTTATGTG CATACATATATATATGTATGTGCATACATATATATATTTATGTATGTGCA TAAATATATATATATTTATGTATGTGCATAAATATATATATATTTATGTA TGTGCATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NPBWR2_chr20_64098802_64112565	64105607	T T	TGGTGGAT others(227): Show TGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGATGGGGGTG GTGGTGGGGGTGGGGGTGATGGTGGGCGTGATGGTGGGGGTGATGGTGGG GGTGGTGGGGGGGGTGATGGGGGTGGGGGTGGGGGTGGGGGTGATGGTGG GCGTGATGGTGGGGGTGATGGTGGGGGTGGTGGGGGGGGTGATGGTGGGG GTGGTGGGGGGGGTGGGCGTGATGATGGGGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01891.hp1 NA20129.hp1 HG01361.hp2 HG01891.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0099 a0001c0002t0100 a0001c0002t0107 a0001c0002t0099 a0001c0002t0100 a0001c0002t0107	a0001c0002t0099g0072 a0001c0002t0100g0045 a0001c0002t0107g0079 a0001c0002t0099g0072 a0001c0002t0100g0045 a0001c0002t0107g0079	3	355	0.0085	234	c.22 others(243): Show c.222_*223insCCCACCCCCATCATCACGCCCACCCCCCCCACCACC CCCACCATCACCCCCCCCACCACCCCCACCATCACCCCCACCATCACGCC CACCATCACCCCCACCCCCACCCCCACCCCCATCACCCCCCCCACCACCC CCACCATCACCCCCACCATCACGCCCACCATCACCCCCACCCCCACCACC ACCCCCATCATCACGCCCATCATCATGCCCACCCCCATCACATCCACC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	222		chr20	TogoVar
NPRL3_chr16_80386_143673	82247	G G	GCTCCCCC others(227): Show GCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGC CTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	350	0.0029	234	c.44 others(245): Show c.4457_*4458insTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCC GGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGA GGCCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3138		chr16	TogoVar
NRAP_chr10_113583714_113669041	113647577	T T	TGGTGGTA others(227): Show TGGTGGTACTGTCTCCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGCCT CCCCCGGTGGTACTGCCTCCCCTGGTGGTACTTCCTCCCCTAGTGGTACT GTCTCCCCCGGTGGTACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGG TACTGTCTCCCCCGGTGGTACTGTCTCCCCCGGTGGTACTTCCTCCCCTA GTGGTACTGTCTCCCCCGGTGGTACTGTCTCCCCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0017 a0017	a0017c0014 a0017c0014	a0017c0014t0001 a0017c0014t0001	a0017c0014t0001g0172 a0017c0014t0001g0172	1	398	0.0025	234	c.889 others(249): Show c.889-551_889-550insGGGGGAGACAGTACCACCGGGGGAGACAGT ACCACTAGGGGAGGAAGTACCACCGGGGGAGACAGTACCACCGGGGGAGA CAGTACCACTAGGGGAGGAAGTACCACCGGGGGAGACAGTACCACCGGGG GAGACAGTACCACTAGGGGAGGAAGTACCACCAGGGGAGGCAGTACCACC GGGGGAGGCAGTACCACTGGGGGAGGCAGTACCACTGGGGGAGACAGTAC CACC	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
NRCAM_chr7_108142649_108461436	108299110	A A	AGAAAGAA others(227): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAAAGAGAGAGAGAAAGAAAGAGAGAGAGAAAGAAA GAGAGAGAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGA AGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0167 a0006c0015t0002g0167	1	208	0.0048	234	c.-10 others(255): Show c.-107+13554_-107+13555insCTTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTT TCTTTCTTTC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRXN1_chr2_49913503_51037132	50538792	T T	TGTGCTCA others(227): Show TGTGCTCAATCAAAGTAATCAAGTCAGTTAAAATAGGAACATGAAATCTT TCTTTGGATTGCAATTGAATATTGGCTTTGAAAACAAGCACTAACCCAGG GGAATCTGACTTTCTTCTAGAGACTGATACAGAATTACAGTTTCTTTATT TTTAATGTATGTATACATGCATTGACTGAACTGTTTGAGGCTCTCAAACA CTATTTGTTGGCTGTACACTTTGGTTTCCATTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02683.hp2 HG03486.hp2 others(6): Show HG02055.hp1 HG02683.hp2 HG03486.hp2 HG03540.hp2 HG03942.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 others(6): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0001t0042 a0001c0001t0053 a0001c0001t0059 a0001c0002t0008 a0001c0002t0034	a0001c0001t0003g0020 a0001c0001t0014g0022 a0001c0001t0018g0068 others(6): Show a0001c0001t0003g0020 a0001c0001t0014g0022 a0001c0001t0018g0068 a0001c0001t0023g0005 a0001c0001t0042g0045 a0001c0001t0053g0052 a0001c0001t0059g0060 a0001c0002t0008g0078 a0001c0002t0034g0098	9	116	0.0776	234	c.176 others(251): Show c.1760-157_1760-156insGAGAATGGAAACCAAAGTGTACAGCCAA CAAATAGTGTTTGAGAGCCTCAAACAGTTCAGTCAATGCATGTATACATA CATTAAAAATAAAGAAACTGTAATTCTGTATCAGTCTCTAGAAGAAAGTC AGATTCCCCTGGGTTAGTGCTTGTTTTCAAAGCCAATATTCAATTGCAAT CCAAAGAAAGATTTCATGTTCCTATTTTAACTGACTTGATTACTTTGATT GAGCAC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	9/22			chr2	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(227): Show TCTCCCCAGAGTGGATTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0134 a0001c0001t0007g0134	1	326	0.0031	234	c.433 others(251): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAAGAGAAGAGAAATCCACTCT GGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841445	C C	CCCCCGAC others(227): Show CCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCAC ACGGGCAAGCAGGTCCACCCTGACCACAGCGCATCTCACACCCGCGAGCA GGTCCTCCCCTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	242	0.0041	234	c.361 others(253): Show c.361-15368_361-15367insTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAG GGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTG CTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTG AGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCAT GGTCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(227): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	296	0.0034	234	c.-20 others(243): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
ODAD3_chr19_11415605_11440121	11425657	A A	ATGCATAC others(227): Show ATGCATACATGCATATACGTATATATGCATACATGCATATACGTATATAT GCATACATGCATATACGTATATATGCATACATGCATATACGTATATATGC ATACATGCATATACGTATATATGCATACATGCATATACGTATATATGCAT ACATGCATATACGTATATATGCATACATGCATATACGTATATATGCATAC ATGCATATACGTATATATGCATACATGCATATACG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0361 a0002c0002t0001g0361	1	398	0.0025	234	c.963 others(249): Show c.963+486_963+487insCGTATATGCATGTATGCATATATACGTATA TGCATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATG CATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCA TGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCATG TATGCATATATACGTATATGCATGTATGCATATATACGTATATGCATGTA TGCA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OLA1_chr2_174067447_174253532	174164348	A A	AATACCAT others(227): Show AATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGCAGAA TGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGCAG AATGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGTGC AGAATGGATACCATTCTGCATAGTGCAGAATGGATACCATTCTGCATAGT GCAGAATGGATACCATTCTGCATAGTGCAGAATGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02897.hp1 HG03130.hp1 others(1): Show HG02559.hp1 HG02897.hp1 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0001t0009 a0001c0004t0009 a0001c0001t0008 a0001c0001t0009 a0001c0004t0009	a0001c0001t0008g0109 a0001c0001t0009g0017 a0001c0001t0009g0018 others(1): Show a0001c0001t0008g0109 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0004t0009g0019	4	262	0.0153	234	c.374 others(253): Show c.374-22349_374-22348insCCATTCTGCACTATGCAGAATGGTAT CCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAATGGT ATCCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAATG GTATCCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAGAA TGGTATCCATTCTGCACTATGCAGAATGGTATCCATTCTGCACTATGCAG AATGGTAT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10			chr2	TogoVar
OLFM1_chr9_135082668_135126180	135124531	G G	GGAAGGAA others(227): Show GGAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAGGAAGGAAGGAAGAA AGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAAGAAAGAAAAAGGAAA GAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	360	0.0028	234	c.43 others(245): Show c.4353_*4354insGAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAA GGAAGGAAGGAAGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAA GAAAGAAAAAGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3352		chr9	TogoVar
OR1S2_chr11_58198204_58209142	58199861	T T	TGAAAATG others(227): Show TGAAAATGGCAAATTGTTAAAAAATCAAATGATTTTTTAACAAGTGCAGA AACAAAAAGATACTGGTTGCATTGTAACTCATGCAACATCCTTTTTTTTA GAAAAGAAAAACACAGATTTGGCCTTCGCACATTTTTTGCAAAGAACAGA AGGTATTTTTTTCTGTAGTGTGATCACAATGAAAACTTTATTGTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01167.hp2 HG01169.hp1 others(3): Show HG00597.hp2 HG01167.hp2 HG01169.hp1 HG03654.hp2 HG03834.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	6	426	0.0141	234	c.33 others(245): Show c.3342_*3343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGACAATAAAGTTTTCATTGTGATCACACTACAGAAAAAAATACC TTCTGTTCTTTGCAAAAAATGTGCGAAGGCCAAATCTGTGTTTTTCTTTT CTAAAAAAAAGGATGTTGCATGAGTTACAATGCAACCAGTATCTTTTTGT TTCTGCACTTGTTAAAAAATCATTTGATTTTTTAACAATTTGCCATTTTC	OR1S2	ENSG00000197887.6	transcript	ENST00000641683.2	protein_coding		3342		chr11	TogoVar
OR1S2_chr11_58198204_58209142	58199861	T T	TGAAAATG others(227): Show TGAAAATGGCAAATTGTTAAAAAATCAAATGATTTTTTAACAAGTGCAGA AACAAAAAGATACTGGTTGCATTGTAACTCATGCAACATCCTTTTTTTTA GAAAAGAAAAACACAGATTTGGCCTTCGCACATTTTTTGCAAAGAACAGA AGGTATTTTTTTCTGTAGTGTGATCACAATGAAAACTTTATTGTCAAAAA AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	426	0.0024	234	c.33 others(245): Show c.3342_*3343insTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT TTTTTTGACAATAAAGTTTTCATTGTGATCACACTACAGAAAAAAATACC TTCTGTTCTTTGCAAAAAATGTGCGAAGGCCAAATCTGTGTTTTTCTTTT CTAAAAAAAAGGATGTTGCATGAGTTACAATGCAACCAGTATCTTTTTGT TTCTGCACTTGTTAAAAAATCATTTGATTTTTTAACAATTTGCCATTTTC	OR1S2	ENSG00000197887.6	transcript	ENST00000641683.2	protein_coding		3342		chr11	TogoVar
OR2T12_chr1_248285139_248308424	248306469	C C	CCCCCAGA others(227): Show CCCCCAGAGGGACTGGAGCCGCCTGAGGACTGGAGCCGCCCTGAGGACAG GAGCCGCCCTGAGGACAGGAGCCCGCCTGAGGACTGGAGCCGCCCTGAGG ACTGGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCCCCTG AGGACTGGAGCCGCCTGAGGACATGGAGCCGCCTGAGGACTGGAGCCCCC TGAGGACTGGAGCCGCCCCTGATGGACTGGAGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0089 a0001c0001t0019g0089	1	406	0.0025	234	c.-33 others(245): Show c.-3314_-3313insAGGCTCCAGTCCATCAGGGGCGGCTCCAGTCCTC AGGGGGCTCCAGTCCTCAGGCGGCTCCATGTCCTCAGGCGGCTCCAGTCC TCAGGGGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGGCGGCTCCAG TCCTCAGGGCGGCTCCAGTCCTCAGGCGGGCTCCTGTCCTCAGGGCGGCT CCTGTCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCCTCTGGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3046		chr1	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(227): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATATTAT ATAATATAATATATATTTATTATATAATATATATTATATTATATAATATA ATATATATTAATATAAATATATATTATATTATATAATATAATATATATTA TATAATATAATATATTTTATTATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	227	0.0044	234	c.-55 others(249): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATAATATATATTTATTATATAATATATATTATATTATATAATATAATAT ATATTAATATAAATATATATTATATTATATAATATAATATATATTATATA ATATAATATATTTTATTATATAAATATATAATATTATATAATATAATATA TATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(227): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATATTAT ATAATATAATATATTTTATTATATAAATATATATTATATTATATAATATA ATATATATTAATATAAATATATATTATATTATATAATATAATATATATTA TATAATATAATATATTTTATTATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01256.hp1 others(19): Show HG00639.hp1 HG01069.hp1 HG01256.hp1 HG01943.hp1 HG01975.hp1 HG02451.hp2 HG02572.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03225.hp1 HG03942.hp2 HG04204.hp2 NA18957.hp1 NA18961.hp1 NA18963.hp2 NA18997.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0007 others(1): Show a0001c0001 a0002c0002 a0007c0007 a0008c0010	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0007c0007t0001 a0008c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0023 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0007g0047 a0002c0002t0001g0005 a0002c0002t0001g0010 a0002c0002t0001g0034 a0002c0002t0001g0062 a0002c0002t0001g0067 a0007c0007t0001g0009 a0008c0010t0001g0009	22	227	0.0969	234	c.-55 others(249): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATAATATATTTTATTATATAAATATATATTATATTATATAATATAATAT ATATTAATATAAATATATATTATATTATATAATATAATATATATTATATA ATATAATATATTTTATTATATAAATATATAATATTATATAATATAATATA TATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(227): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATATATATATTATA TAATATAATATATTTTATTATATAAATATATATTATATTATATAATATAA TATATATTATATAATATAAATATATATTATATTATATAATATAATATATA TTATATAATATATTTTATTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	227	0.0044	234	c.-55 others(249): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATATATATATTATATAAT ATAATATATTTTATTATATAAATATATATTATATTATATAATATAATATA TATTATATAATATAAATATATATTATATTATATAATATAATATATATTAT ATAATATATTTTATTATATAAATATATATTATATTATATAATATAATATA TATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(227): Show TTATTATATAATATAATATATATTATATTATATATATTATTATATAATAT AATATATATTATATAATATATTTTATTATATAATATAATATATATTATAT AATATAATATATTTTATTATATAAATATATATTATATTATATAATATAAT ATATATTAATATAAATATATATTATATTATATAATATAATATATATTATA TAATATAATATATTTTATTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG02559.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	227	0.0088	234	c.-55 others(249): Show c.-55+402_-55+403insATATTATATATATTATTATATAATATAATA TATATTATATAATATATTTTATTATATAATATAATATATATTATATAATA TAATATATTTTATTATATAAATATATATTATATTATATAATATAATATAT ATTAATATAAATATATATTATATTATATAATATAATATATATTATATAAT ATAATATATTTTATTATATAAATATATATTATATTATATAATATAATATA TATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OSGIN1_chr16_83948240_83971332	83951922	C C	CCCTCCCT others(227): Show CCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCT CCCTCCTACTTCCCTCCCTCCCTGCCTCCTCCCTCCTTCCTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCC CTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCT CCTTTCCTCCCTCCCTCCTTCCCTCCTCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	350	0.0029	234	c.-14 others(245): Show c.-1481_-1480insCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCCTCCCTCCTACTTCCCTCCCTCCCTGCCTCCTCCCTC CTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCC TCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTC CCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCTCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1317		chr16	TogoVar
OTOG_chr11_17542259_17651044	17552528	C C	CTCCCCCA others(227): Show CTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTC CTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACC TGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCC CACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGT CCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG03130.hp2 others(1): Show HG02615.hp1 HG02717.hp1 HG03130.hp2 NA20300.hp1	a0034 a0061 a0062 others(1): Show a0034 a0061 a0062 a0127	a0034c0031 a0061c0150 a0062c0149 others(1): Show a0034c0031 a0061c0150 a0062c0149 a0127c0129	a0034c0031t0001 a0061c0150t0001 a0062c0149t0001 others(1): Show a0034c0031t0001 a0061c0150t0001 a0062c0149t0001 a0127c0129t0001	a0034c0031t0001g0039 a0061c0150t0001g0040 a0062c0149t0001g0042 others(1): Show a0034c0031t0001g0039 a0061c0150t0001g0040 a0062c0149t0001g0042 a0127c0129t0001g0038	4	268	0.0149	234	c.293 others(249): Show c.293-515_293-514insTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552531	C C	CCCCACCT others(227): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0087 a0087	a0087c0035 a0087c0035	a0087c0035t0001 a0087c0035t0001	a0087c0035t0001g0048 a0087c0035t0001g0048	1	268	0.0037	234	c.292 others(249): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(227): Show CCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTGCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCCTCC TCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCTCCCCTCCTCCCTCCTCTC CCCCTCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCTCCACTCCCCTTCCC TCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0026 a0001c0007t0001g0026	1	308	0.0033	234	c.226 others(253): Show c.2262+7511_2262+7512insTCCCTTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTGCCCTCCCCTCCTCC CCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCT CTCCCCTCCTCCCTCCTCTCCCCCTCCCTCCCCTCCTCTCCCCCCTCCCC TCCCCTCCACTCCCCTTCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCC CTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAM16_chr16_4335251_4356321	4344478	C C	CTGTGAGA others(227): Show CTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGG AGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGTGACTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	367	0.0027	234	c.4-1 others(247): Show c.4-1188_4-1187insCAGTCACCTCCTCTCACGGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCC CCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTCACACA GTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCA CA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PARP10_chr8_143972158_143991460	143981312	G G	GTGGTGAT others(227): Show GTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0222	1	380	0.0026	234	c.255 others(253): Show c.2556+1619_2556+1620insTCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCT TCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCA CTGTCGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCAC CATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(227): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGT GGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATG GTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	380	0.0026	234	c.255 others(253): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACC ATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCACCACCA CCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCAC TCACTGTCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCAC CACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCDH15_chr10_53797771_54806231	54332245	T T	TATATAAT others(227): Show TATATAATCTATATTATATATTATTATATATAATATAATCTATATTATAT ATTATTATATATAATATAATATAATCTATATTATATATTATTATATATAA TATAATAAAATCTATATTATATATTATTATATATAATATAATAAAATCTA TATTATATATTATTATATATAATAAAATCTATATTATATATTATTATATA TAATATAATATAATCTATATTATATTATATATAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0022 a0007c0007t0022	a0007c0007t0022g0075 a0007c0007t0022g0075	1	102	0.0098	234	c.595 others(251): Show c.595-2540_595-2539insTTTATATATAATATAATATAGATTATAT TATATTATATATAATAATATATAATATAGATTTTATTATATATAATAATA TATAATATAGATTTTATTATATTATATATAATAATATATAATATAGATTT TATTATATTATATATAATAATATATAATATAGATTATATTATATTATATA TAATAATATATAATATAGATTATATTATATATAATAATATATAATATAGA TTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332245	T T	TATATAAT others(227): Show TATATAATCTATATTATATATTATTATATATAATATAATCTATATTATAT ATTATTATATATAATATAATATAATCTATATTATATATTATTATATATAA TATAATAAAATCTATATTATATATTATTATATATAATATAATAAAATCTA TATTATATATTATTATATATAATAAAATCTATATTATATATTATTATATA TAATATAATATAATCTATATTATATTATATATAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0069 a0009c0014t0001g0069	1	94	0.0106	234	c.595 others(251): Show c.595-2540_595-2539insTTTATATATAATATAATATAGATTATAT TATATTATATATAATAATATATAATATAGATTTTATTATATATAATAATA TATAATATAGATTTTATTATATTATATATAATAATATATAATATAGATTT TATTATATTATATATAATAATATATAATATAGATTATATTATATTATATA TAATAATATATAATATAGATTATATTATATATAATAATATATAATATAGA TTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCNT_chr21_46319156_46450769	46403869	C C	CGGCGCGT others(227): Show CGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGT GCGCACGCGGCGCGTGCTTGGTGAATGAACACAGCGTGGGAGAATTGTGT GTGTGTGGTGCCCACGTGGCGCGTGCTCGGTGAATGAACACAGCGTGGGA GAATTGTGTGTGTGTGGTGCCCACGTGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0154 a0003c0003t0001g0154	1	332	0.0030	234	c.511 others(253): Show c.5115+1390_5115+1391insCGTGCTCGGTGAATGAACACAGCGTG GGAGAATTGTGTGTGTGGTGCGCACGCGGCGCGTGCTTGGTGAATGAACA CAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGTGGCGCGTGCTCGGT GAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGTGGCGC GTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCC ACGTGGCG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(227): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	336	0.0030	234	c.-37 others(245): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAGGGGA GGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGGCAGG GGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CGAAAGAA others(227): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAG AAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0153 a0002c0002t0007g0153	1	342	0.0029	234	c.20- others(249): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT TCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PEX10_chr1_2398974_2417564	2401381	C C	CTCCCTCC others(227): Show CTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTC CCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCT CCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCTTCCTCCCTCCCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0070 a0001c0002t0009g0070	1	358	0.0028	234	c.43 others(245): Show c.4384_*4385insAGGAGGGAGGAGGAGGGAGGGAGGAAGGAGGGAG GAGGAGGGAGGAAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGG GAGGAGGAGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGG GGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAAGGGAGG AGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAAGGAGGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2592		chr1	TogoVar
PGAP6_chr16_365788_386978	378451	G G	GCCACCCT others(227): Show GCCACCCTGACTGCCATCGCCACCCACAATGCCATCCCCACCCGCACTGC CATCGCCACCCACAATGCCATCCCCACCCGCACTGCCATCGCCACCCTGA CTGCCATCGCCACCCACACTGCCATCCCCACCCACACTGCCATCCCCACC CGCACTGCCATCGCCACCCTGACTGCCATCGCCACCCACAATGCCATCCC CACCCGCACTGCCATCGCCACCCGCACTGCCATCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0171 a0002c0002t0003g0171	1	376	0.0027	234	c.122 others(249): Show c.122-604_122-603insGGATGGCAGTGCGGGTGGCGATGGCAGTGC GGGTGGGGATGGCATTGTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCA GTGCGGGTGGGGATGGCAGTGTGGGTGGGGATGGCAGTGTGGGTGGCGAT GGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGGTGG CGATGGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAGTCAGG GTGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PIAS4_chr19_4002736_4044386	4011658	T T	TGGTGTGG others(227): Show TGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGT TTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGT TTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0304 a0001c0004t0003g0305 a0001c0004t0003g0304 a0001c0004t0003g0305	2	334	0.0060	234	c.28- others(249): Show c.28-1251_28-1250insTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATT others(227): Show TATATATTATATATTATACATAAAATATATATAATATATATTATATATAA TATATATTATATATAATATATAATATATAATATATAATATATATAATATA TAATATATTATATATAATATATATTATATATTATATATTATATATATATT ATATATTATATATAATATATAATATATATTATATATAATATATAATATAT ATTATATATAATATATAATATATATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18946.hp1 NA18949.hp2 others(12): Show NA18940.hp2 NA18946.hp1 NA18949.hp2 NA18956.hp2 NA18960.hp1 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18997.hp2 NA19011.hp2 NA19068.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0019 a0001c0001t0003g0003 a0001c0001t0003g0019	15	414	0.0362	234	c.53 others(245): Show c.5315_*5316insATATATTATATATTATACATAAAATATATATAAT ATATATTATATATAATATATATTATATATAATATATAATATATAATATAT AATATATATAATATATAATATATTATATATAATATATATTATATATTATA TATTATATATATATTATATATTATATATAATATATAATATATATTATATA TAATATATAATATATATTATATATAATATATAATATATATTATATATATA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PKP3_chr11_389209_409908	401443	C C	CGGCCCCG others(227): Show CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCCGCTCACCCCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	216	0.0046	234	c.173 others(251): Show c.1737+739_1737+740insGCCCCGCTCACACCCGACCCGCTCACCC CCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCC GCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCT CACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLE_chr12_132618762_132692342	132689020	G G	GCGGGTAA others(227): Show GCGGGTAAAGACAGGGCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGA CAGGGCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCCAGGG GAGCGGGTCCTCATGGCGCGGGTGGAGACAGGGCCAAGGGAGCGGGTCTG CGGGGCGCGGGTGAAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGG TGAAGACAGGGCGAGGGGAGCGGGTCTGCGGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18952.hp1 NA19009.hp2 others(1): Show NA18951.hp2 NA18952.hp1 NA19009.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0148	4	292	0.0137	234	c.-17 others(245): Show c.-1706_-1705insTGCCCCGCAGACCCGCTCCCCTCGCCCTGTCTTC ACCCGCGCCCCGCAGACCCGCTCCCTTGGCCCTGTCTTCACCCGCGCCCC GCAGACCCGCTCCCTTGGCCCTGTCTCCACCCGCGCCATGAGGACCCGCT CCCCTGGCCCTGTCTTCACCCGTGCCCCGCAGACCCGCTCCCCTGGCCCT GTCTTCACCCGTGCCCCGCAGACCCGCTCCCCTGGCCCTGTCTTTACCCG	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		1679		chr12	TogoVar

Search by Variant

Search

Search Results