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
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(228): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAATGCAGTGGCAC GATCTCCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0073 a0001c0001t0010g0073	1	96	0.0104	235	c.-72 others(254): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACCCCCCAA AAGTTAAGAAATTGATTGGTGGTCAGATTTCATAATTTGTGGGTACATAT TTATACACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTTGCAGCCAAGA AGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(228): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAATGCAGTGGCAC GATCTCCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp2 HG02818.hp2 others(1): Show HG02717.hp1 HG02717.hp2 HG02818.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 others(1): Show a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0028	a0001c0001t0014g0066 a0001c0001t0015g0050 a0001c0001t0025g0015 others(1): Show a0001c0001t0014g0066 a0001c0001t0015g0050 a0001c0001t0025g0015 a0001c0001t0028g0049	4	96	0.0417	235	c.-72 others(254): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACCCCAA AAGTTAAGAAATTGATTGGTGGTCAGATTTCATAATTTGTGGGTACATAT TTATACACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTTGCAGCCAAGA AGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(228): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GAGGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGG GCGGGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	364	0.0028	235	c.-20 others(244): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGAGGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGG GGAGGGGATGGGGGCGGGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(228): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GGGAGGGGGAGGGGGGAGGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGG GGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGG GGGCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	364	0.0028	235	c.-20 others(244): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGGGAGGGGGAGGGGGGAGGGGGAGAAGACGGGCAGCG GGAGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGC GGGGAGGGGATGGGGGCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019227	C C	CGGGGGGA others(228): Show CGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGTGGGGGGG GGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGGGAGGGG GAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGGGGAT GGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGCGGGGG GGAGGGGATGGGCGGGGGGGGAGGGGAGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	364	0.0028	235	c.-19 others(244): Show c.-197_-196insGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGG TAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTG GGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCG GGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGG ATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAGGGGGGGCG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		117		chr1	TogoVar
GABRG3_chr15_26966181_27546984	27325016	A A	AGCTGTTC others(228): Show AGCTGTTCTTGATGTTCTGTTGTAGAGATGAGGCCCTTGCCTCTCCCAGC CTCGCCAGACCCCAAGTGTGCTTTTTCTTTCCTCTTTATAACAGCTTTCA AACCACCGGGTTCTTTTGGAGATAATTTCCTTCCTGTGATAACTTACCAA GCATGGAGAATAGCAGTCAACACATGCTAATTACCATTTCTTTTCCAACC TCTGCCCAGAGAGCTACCTGCTCCTTAGACAGGTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01109.hp2 others(20): Show HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01884.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0016	a0001c0001t0001 a0001c0001t0031 a0001c0002t0035 others(16): Show a0001c0001t0001 a0001c0001t0031 a0001c0002t0035 a0001c0003t0001 a0001c0003t0006 a0001c0003t0014 a0001c0003t0019 a0001c0003t0022 a0001c0003t0032 a0001c0003t0037 a0001c0005t0002 a0001c0005t0005 a0001c0006t0003 a0001c0007t0001 a0001c0007t0004 a0001c0007t0036 a0001c0008t0008 a0001c0012t0003 a0001c0016t0001	a0001c0001t0001g0084 a0001c0001t0031g0028 a0001c0002t0035g0019 others(20): Show a0001c0001t0001g0084 a0001c0001t0031g0028 a0001c0002t0035g0019 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0006g0034 a0001c0003t0014g0011 a0001c0003t0019g0064 a0001c0003t0022g0058 a0001c0003t0032g0040 a0001c0003t0037g0018 a0001c0005t0002g0055 a0001c0005t0002g0067 a0001c0005t0005g0037 a0001c0005t0005g0045 a0001c0006t0003g0020 a0001c0007t0001g0048 a0001c0007t0004g0056 a0001c0007t0036g0016 a0001c0008t0008g0001 a0001c0008t0008g0002 a0001c0012t0003g0068 a0001c0016t0001g0074	23	92	0.2500	235	c.271 others(252): Show c.271-1793_271-1792insGCTGTTCTTGATGTTCTGTTGTAGAGAT GAGGCCCTTGCCTCTCCCAGCCTCGCCAGACCCCAAGTGTGCTTTTTCTT TCCTCTTTATAACAGCTTTCAAACCACCGGGTTCTTTTGGAGATAATTTC CTTCCTGTGATAACTTACCAAGCATGGAGAATAGCAGTCAACACATGCTA ATTACCATTTCTTTTCCAACCTCTGCCCAGAGAGCTACCTGCTCCTTAGA CAGGTTC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27325016	A A	AGCTGTTC others(228): Show AGCTGTTCTTGATGTTCTGTTGTAGAGATGAGGCCCTTGCCTCTCCCAGC CTCGCCAGACCGCAAGTGTGCTTTTTCTTTCCTCTTTATAACAGCTTTCA AACCACCGGGTTCTTTTGGAGATAATTTCCTTCCTGTGATAACTTACCAA GCATGGAGAATAGCAGTCAACACATGCTAATTACCATTTCTTTTCCAACC TCTGCCCAGAGAGCTACCTGCTCCTTAGACAGGTTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	92	0.0109	235	c.271 others(252): Show c.271-1793_271-1792insGCTGTTCTTGATGTTCTGTTGTAGAGAT GAGGCCCTTGCCTCTCCCAGCCTCGCCAGACCGCAAGTGTGCTTTTTCTT TCCTCTTTATAACAGCTTTCAAACCACCGGGTTCTTTTGGAGATAATTTC CTTCCTGTGATAACTTACCAAGCATGGAGAATAGCAGTCAACACATGCTA ATTACCATTTCTTTTCCAACCTCTGCCCAGAGAGCTACCTGCTCCTTAGA CAGGTTC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27421481	G G	GTCCATGG others(228): Show GTCCATGGGAGTGGGCTATAAATCCACCAATACTGAGTGTTCTAAGATAT CCATTGGAGTGGGCTGCGTATCCATCAATACTGTTTTAAGGCATCCATGG GAGTGGGCTATAAATCCACCAATACTGAGTGTTCTGAGGCATCCATGGGA GTTGGCTGTAAATCCACCAATACTGAGTGTTCTGAGGCATCCATGCAGTG GGCTGCATATCCAACAATACTGAGTGTTCTAAGGCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0018 a0001c0003t0037g0018	1	92	0.0109	235	c.575 others(254): Show c.575-59035_575-59034insGAGGCATCCATGGGAGTTGGCTGTAA ATCCACCAATACTGAGTGTTCTGAGGCATCCATGCAGTGGGCTGCATATC CAACAATACTGAGTGTTCTAAGGCATCCATGGGAGTGGGCTATAAATCCA CCAATACTGAGTGTTCTAAGATATCCATTGGAGTGGGCTGCGTATCCATC AATACTGTTTTAAGGCATCCATGGGAGTGGGCTATAAATCCACCAATACT GAGTGTTCT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(228): Show CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGA CGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03239.hp1 HG01168.hp2 HG03239.hp1	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0001 a0001c0009t0001 a0001c0008t0001 a0001c0009t0001	a0001c0008t0001g0274 a0001c0009t0001g0268 a0001c0008t0001g0274 a0001c0009t0001g0268	2	384	0.0052	235	c.467 others(250): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTG TTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPC5_chr13_91393621_92872237	92347903	T T	TATATATT others(228): Show TATATATTATATATATAATATATATTATATATATATATTATATATATATT ATATATATAATATATATTATATATATTATATATAATATATATATAATATA TATTATATATATTATATATATAATATATATATTATATATATTATATTATT ATATATATATTATATATATTATATATATAATATATATATTATATATATTA TATATATTATATATTATATATAATATATAATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	42	0.0238	235	c.156 others(258): Show c.1561+202920_1561+202921insTATATATATAATATATATTATA TATATATATTATATATATATTATATATATAATATATATTATATATATTAT ATATAATATATATATAATATATATTATATATATTATATATATAATATATA TATTATATATATTATATTATTATATATATATTATATATATTATATATATA ATATATATATTATATATATTATATATATTATATATTATATATAATATATA ATATATAATATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143218186	C C	CCCCAACA others(228): Show CCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCC CACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACC ATCCCCCACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCC CCAACACCATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCA ACACCATCCCCAACACCACCCCAACACCACCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	235	c.26 others(246): Show c.2668_*2669insCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCAACACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCAAC ACCACCCCCAACACCATCCCCCACACCACCCCCAACACCACCCCAACACC ACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACC CCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCA A	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1017		chr8	TogoVar
GPR157_chr1_9095305_9134102	9116182	A A	ATATTATA others(228): Show ATATTATATATATATAATATAATTATATATTTATATTATATATATTATAT ATAATATAATTATATATATTTATATTATATATAATATATATAATATAATT ATATATAATTATATTATATATATTATATTATATATAATTATATATAATTA TATTATATATTATATGTAATATAAATATATATAATTATATTATATATATT ATATGTAATATAATTATATATATTTATATTATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 NA18522.hp1 others(3): Show HG02615.hp2 HG03453.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0091 a0001c0001t0095 a0001c0001t0008 a0001c0001t0091 a0001c0001t0095	a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0208 others(3): Show a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0091g0210 a0001c0001t0095g0204	6	404	0.0149	235	c.384 others(252): Show c.384-4694_384-4693insATATATAATATAAATATATATAATTATA TTACATATAATATATATAATATAATTATATATATTTATATTACATATAAT ATATAATATAATTATATATAATTATATATAATATAATATATATAATATAA TTATATATAATTATATTATATATATTATATATAATATAAATATATATAAT TATATTATATATAATATATATAATATAAATATATAATTATATTATATATA TATAATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116318	A A	ATTATATA others(228): Show ATTATATATAATTATATTATATATTATATGTAATATAAATATATATAATT ATATTATATATATTATATGTAATATAATTATATATATTTATATTATATAT TATATATAATATAATTATATATATAATTATAATATATATTATATATAATA TAATTATATATATAATTTATATATATTATATATAATATAATTATATATAT AATATATATATAATTATATAATTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01099.hp1 others(34): Show HG00423.hp2 HG00621.hp1 HG01099.hp1 HG01261.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02080.hp2 HG02165.hp2 HG02300.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG03239.hp1 NA18747.hp2 NA18943.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18965.hp2 NA18974.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19059.hp1 NA19065.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp2 NA19088.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0014 a0007c0020 others(1): Show a0001c0001 a0001c0014 a0007c0020 a0009c0019	a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 others(9): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0034 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0078 a0001c0014t0005 a0007c0020t0018 a0009c0019t0017	a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0046 others(32): Show a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0046 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0095 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0104 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0320 a0001c0001t0010g0080 a0001c0001t0010g0100 a0001c0001t0010g0192 a0001c0001t0010g0193 a0001c0001t0010g0194 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0017g0089 a0001c0001t0017g0110 a0001c0001t0017g0111 a0001c0001t0018g0091 a0001c0001t0018g0092 a0001c0001t0018g0113 a0001c0001t0034g0087 a0001c0001t0034g0090 a0001c0001t0061g0189 a0001c0001t0062g0088 a0001c0001t0063g0099 a0001c0001t0078g0096 a0001c0014t0005g0022 a0007c0020t0018g0333 a0009c0019t0017g0112	37	404	0.0916	235	c.384 others(252): Show c.384-4830_384-4829insATTATATATATATAATTATATAATTATA TATATATTATATATATAATTATATTATATATAATATATATAAATTATATA TATAATTATATTATATATAATATATATTATAATTATATATATAATTATAT TATATATAATATATAATATAAATATATATAATTATATTACATATAATATA TATAATATAATTATATATATTTATATTACATATAATATATAATATAATTA TATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR35_chr2_240620480_240638159	240626003	T T	TGGGGGTC others(228): Show TGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGCG AGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGA GCGGGGCGAGGCTGTGACGGGGGTCTCAGAGCGGGGCGAGGCTGTGACGG GGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGC TCTGACGGGGTCTCAGAGCGGGGTGAGGCTGTGATG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0068 a0001c0001t0015g0068	1	400	0.0025	235	c.-5+ others(248): Show c.-5+439_-5+440insGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTC TCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTG ACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGGTCTCAGAGCGGGGC GAGGCTGTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAG AGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTGTGATGG GGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPRIN1_chr5_176590802_176615156	176591765	G G	GGTGTTGA others(228): Show GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	397	0.0025	235	c.50 others(246): Show c.5042_*5043insAACCATCACCATCACCTCAACACCAACACCATCA TCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCA TCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACA CCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCA ACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACA C	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4036		chr5	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(228): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGCG GGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGGCGGGGC TGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGGGAGGGG AGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	288	0.0035	235	c.-39 others(244): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(228): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGCG GGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGGCGGGGC TGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGGGAGGGG AGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	288	0.0035	235	c.-39 others(244): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCGCCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(228): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGGGGC TGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGGGAGGGG AGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG01175.hp2 others(7): Show HG00280.hp2 HG01074.hp2 HG01175.hp2 HG01884.hp1 HG02280.hp1 HG02451.hp1 HG03453.hp1 NA19030.hp2 NA19068.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0058 a0001c0001t0003g0026 a0001c0001t0003g0033 a0001c0001t0003g0148	10	288	0.0347	235	c.-39 others(244): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(228): Show AGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAG GGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGC GGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGGCGGGG CTGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGAGGGGGAGGGG AGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	288	0.0035	235	c.-39 others(244): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCAG CCCCGCCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(228): Show CCCTCCCCCTCCTCCCTCCTCCCCCCCCCCTCCTCCCCCCTCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTC CCCCCTCCTCCCCCCCCTCCCCCCCTCCCCCCCCTCCTCCCCCCTCCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTC CTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0265 a0004c0007t0010g0265	1	290	0.0035	235	c.427 others(252): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCCCCCCCCCTCCT CCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCCCTCCCCCCCC TCCTCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTC CTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSF1_chr8_144286604_144319720	144313665	G G	GCCTCCCC others(228): Show GCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCC GCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCC CCGCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCCCG CCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0288 a0001c0001t0007g0288	1	330	0.0030	235	c.124 others(250): Show c.1248+51_1248+52insTCCCCGCCTCCCCGCCCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGC CCCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCTCCCCGC GCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCC TCCCCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCC TCCCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATTAT others(228): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATTTTATATAAT ATTATATATAATATTATATATTTTATATAATATTATATATAATATTATAT ATTTTATATATAATATTATATATAATATTATATATTTTATATATAATATA TATTATATAATATTATATATATTATACATTACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	366	0.0027	235	c.-35 others(246): Show c.-3536_-3535insATATTATATATAATATTATATATTTTATATATAA TATTATATATAATATTATATATTTTATATATAATATTATATATAATATTA TATATTTTATATAATATTATATATAATATTATATATTTTATATAATATTA TATATAATATTATATATTTTATATATAATATTATATATAATATTATATAT TTTATATATAATATATATTATATAATATTATATATATTATACATTACATA T	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2902		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352893	A A	AATATTAT others(228): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATTTTATATAAT ATTATATATAATATTATATATTTTATATAATATTATATATAATATTATAT ATTTTATATATAATATTATATATAATATTATATATTTTATATATAATATA TATTATATAATATTATATATATTATACATTACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	348	0.0029	235	c.97 others(244): Show c.972_*973insATATTATATATAATATTATATATTTTATATATAATA TTATATATAATATTATATATTTTATATATAATATTATATATAATATTATA TATTTTATATAATATTATATATAATATTATATATTTTATATAATATTATA TATAATATTATATATTTTATATATAATATTATATATAATATTATATATTT TATATATAATATATATTATATAATATTATATATATTATACATTACATAT	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		857		chr2	TogoVar
IQCJ_chr3_159064319_159268747	159229754	C C	CCCTCCCC others(228): Show CCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTC CTCCTCCCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCC CCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC TCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	252	0.0040	235	c.10- others(252): Show c.10-16088_10-16087insCTCCCCCCTCCTCCCCCTCCTCCTCCCC CCTCCCCCCTCCTCCCCCTCCTCCTCCCCCTCCCCCCTCCTCCTCCCCCC TCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTC CTCCCCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTC CCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTC CTCCCAC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229783	C C	CCCCCTCC others(228): Show CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGT CTTCCTCCCCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCA CCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCC CCTCCTCCCACTCCTCCTCCCCCTCCTCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00733.hp2 others(30): Show HG00408.hp2 HG00621.hp2 HG00733.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp2 HG01192.hp2 HG01346.hp1 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02074.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03654.hp1 HG04115.hp1 NA18906.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18962.hp1 NA18968.hp2 NA18993.hp2 NA19001.hp1 NA19057.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0051 others(30): Show a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0002g0170 a0001c0001t0003g0218 a0001c0001t0003g0219	33	252	0.1310	235	c.10- others(252): Show c.10-16060_10-16059insCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCC GTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCCTCCTCC TCCCCCA	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3			chr3	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(228): Show TATAAATATATATTTATTATATATATATATAATATATATAATATATATTT ATTAATATATAATAAATATATATTTATAATATATATAAATAAATATATAT TTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATA TTTATTTATATAAATAAATATATATTTATTATATATAAATAAATATATAT TTATTTATATAAATAAATATATATTTATTTATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0212 a0001c0003t0001g0212	1	338	0.0030	235	c.117 others(256): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATAAATAAATATATATTTATTTATATATAATAAATATATATTTATT TATATAAATAAATATATATTTATTTATATAAATAAATATATATTTATATT TATTTATTATAAATATATATTTATTTATATATATTATAAATATATATTTA TTATATATTAATAAATATATATTATATATATTATATATATATATAATAAA TATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(228): Show TATAAATATATATTTATTATATATATATATAATATATATAATATATATTT ATTAATATATAATAAATATATATTTATAATATATATAAATAAATATATAT TTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATA TTTATTTATATAAATAAATATATATTTATTTATATAAATAAATATATATT TATTATATATAAATAAATATATATTTATTTATATAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19065.hp1 NA18944.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0226 a0001c0001t0001g0239	2	338	0.0059	235	c.117 others(256): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTTATTTATATAAATAAATATATATTTATATT TATTTATTATAAATATATATTTATTTATATATATTATAAATATATATTTA TTATATATTAATAAATATATATTATATATATTATATATATATATAATAAA TATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KATNIP_chr16_27545144_27785344	27713818	A A	ATTATATA others(228): Show ATTATATATATGTGTATATATATACACATACATATTATATATATGTGTAT ATATATACACATACATATTATATATGTGTGTGTATATATATACACACACA TATTATATATATGTGTGTGTATATATATACACATACATATTATATATATG TGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATATGT ATATATACACATATTATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0098 a0002c0002t0003g0098	1	152	0.0066	235	c.160 others(254): Show c.1605+4899_1605+4900insTATATATATGTGTATATATATACACA TACATATTATATATATGTGTATATATATACACATACATATTATATATGTG TGTGTATATATATACACACACATATTATATATATGTGTGTGTATATATAT ACACATACATATTATATATATGTGTGTGTATATATATACACATACATATT ATATATATGTGTGTGTATATGTATATATACACATATTATATATGTGTGTG TGTGTGTGT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNMB2_chr3_178531436_178849429	178758770	T T	TATATATA others(228): Show TATATATATATATATCTCCTCTAGGAGAGATATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATATCTCCTCTAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCA AGAGGAGATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19010.hp1 HG00738.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0008 a0001c0002t0001g0171 a0001c0001t0002g0008 a0001c0002t0001g0171	2	232	0.0086	235	c.-67 others(254): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATAT ATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATATA TATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(228): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATAATATATATATTATATATATGTTACATATATATAATATAT ATATTATATATATGTTACATATATATAATATATATATTATATATATGTTA TATATATATATAATATATATATTATATATATGTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	2	386	0.0052	235	c.-44 others(246): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATA TATAACATATATATAATATATATATTATATATATGTAACATATATATAAT ATATATATTATATATATGTAACATATATATAATATATATATTATATATAT ATATAACATATATATAATATATATATTATATATATGTAACATATATATAA TATATATATTATATATATATATAACATATATATAATATATATATTATATA T	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228896	C C	CCCCCACC others(228): Show CCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCT GAGAGATCCCTCTCCACCCCCGCCATCACCAAACACTCACCCGAAAGATC CCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCAC CCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCAAA CACTCACCCGAAAGATCCCTCTCCACCCCCCCACCA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	398	0.0025	235	c.64+ others(252): Show c.64+11743_64+11744insTGGTGGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGTTTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGATGGCGGGGGTGGAGAGG GATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGT GGTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(228): Show AGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0123 a0004c0005t0004g0123	1	375	0.0027	235	c.317 others(252): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCG GGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(228): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGA ACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGA ACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp2 HG01884.hp2 NA20300.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0001 a0004c0005t0004g0121 a0004c0005t0004g0001 a0004c0005t0004g0121	2	375	0.0053	235	c.317 others(252): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCGG GGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF27_chr9_83829099_83926432	83848095	T T	TATATCAT others(228): Show TATATCATATATCATATATATGATATATCATATATGATATATATGATATA TCATATATGATATATATGATATATCATATATGATATATATGATATATCAT ATATGATATATATGATATATCATATATGATATATATGATATATCATATAT GATATATATGATATATCATATATGATATATATGATATATCATATATGATA TATATGATATATCATATATGATATATATGATATATC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0326 a0001c0002t0002g0326	1	346	0.0029	235	c.355 others(254): Show c.3556+2003_3556+2004insGATATATCATATATATCATATATGAT ATATCATATATATCATATATGATATATCATATATATCATATATGATATAT CATATATATCATATATGATATATCATATATATCATATATGATATATCATA TATATCATATATGATATATCATATATATCATATATGATATATCATATATA TCATATATGATATATCATATATATCATATATGATATATCATATATATGAT ATATGATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
LMF1_chr16_848634_975984	858637	C C	CAGTGGTG others(228): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGATGTCACGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTG TCACGGGACGCGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0061 a0008c0061	a0008c0061t0003 a0008c0061t0003	a0008c0061t0003g0210 a0008c0061t0003g0210	1	294	0.0034	235	c.153 others(254): Show c.1530-3932_1530-3931insCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTGCACACG CGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGTGACATCACTGCACACCCGTCCCGA GACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(228): Show CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18986.hp1 HG00099.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0259 a0001c0007t0001g0162 a0001c0001t0001g0259 a0001c0007t0001g0162	2	414	0.0048	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(228): Show CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03942.hp1 HG04204.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0325 a0001c0007t0001g0160 a0001c0007t0001g0161 a0001c0001t0001g0325 a0001c0007t0001g0160 a0001c0007t0001g0161	3	414	0.0073	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(228): Show CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG03669.hp1 HG00609.hp1 HG00609.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0030 a0001c0007t0001g0159 a0001c0001t0001g0030 a0001c0007t0001g0159	3	414	0.0073	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(228): Show CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18964.hp1 NA19066.hp1 others(1): Show NA18948.hp2 NA18964.hp1 NA19066.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0309 a0001c0002t0001g0310 others(1): Show a0001c0002t0001g0109 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311	4	414	0.0097	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(228): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	414	0.0024	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(228): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02630.hp1 HG00741.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0233 a0001c0007t0001g0152 a0001c0001t0001g0233 a0001c0007t0001g0152	2	414	0.0048	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(228): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01258.hp2 HG03491.hp1 others(2): Show HG01081.hp2 HG01258.hp2 HG03491.hp1 NA19007.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0094 a0001c0002t0001g0107 a0001c0002t0001g0304 others(2): Show a0001c0001t0001g0094 a0001c0002t0001g0107 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306	5	414	0.0121	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(228): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19062.hp1 NA18962.hp2 NA19062.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0045 a0001c0002 a0012c0045	a0001c0002t0001 a0012c0045t0001 a0001c0002t0001 a0012c0045t0001	a0001c0002t0001g0104 a0012c0045t0001g0098 a0001c0002t0001g0104 a0012c0045t0001g0098	2	414	0.0048	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(228): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	414	0.0024	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(228): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02486.hp1 NA19077.hp2 HG02004.hp2 HG02486.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0001 a0001c0030t0001 a0001c0001t0001 a0001c0030t0001	a0001c0001t0001g0025 a0001c0030t0001g0179 a0001c0001t0001g0025 a0001c0030t0001g0179	3	414	0.0073	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(228): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG01934.hp1 others(3): Show HG00423.hp2 HG01099.hp1 HG01934.hp1 HG01993.hp2 HG04115.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0001t0001 a0001c0002t0001 a0001c0012t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0002t0001g0294 others(3): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0012t0001g0194	6	414	0.0145	235	c.171 others(252): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRRC24_chr8_144517388_144532033	144531603	G G	GGGAGCAG others(228): Show GGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	398	0.0025	235	c.-47 others(246): Show c.-4704_-4703insTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTC C	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4571		chr8	TogoVar
MADCAM1_chr19_491486_510343	496853	G G	GGGGGCGC others(228): Show GGGGGCGCAGGAAGAGAGCAGGGGCGCAGGAGAGAGGAGGGGCGCGGGAG AGGGGAGGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGG CGCGGTGAGCGGGGAGGGACGCGGGAGAGAGAAGGGAGTTAGGAGGGGGC TCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGGA GGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0172 a0002c0014t0001g0172	1	364	0.0028	235	c.52+ others(248): Show c.52+313_52+314insAGAGAGCAGGGGCGCAGGAGAGAGGAGGGGCG CGGGAGAGGGGAGGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGG AAGGGGCGCGGTGAGCGGGGAGGGACGCGGGAGAGAGAAGGGAGTTAGGA GGGGGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAG AGAGGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCA GGA	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	496853	G G	GGGGGCGC others(228): Show GGGGGCGCAGGAGAGAGCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGGA GAGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGG CGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGGG CTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGG AGGGACGCAGGAGAGAGGAGGGCGCAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0239 a0007c0009t0001g0239	1	364	0.0028	235	c.52+ others(248): Show c.52+318_52+319insCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGG AGAGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGG GCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGG GCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAG GAGGGACGCAGGAGAGAGGAGGGCGCAGGGGAGAGGAGGGGCGCAGGAGA GAG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAEA_chr4_1284891_1345137	1333910	C C	CCCATGCC others(228): Show CCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGC CCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCATCCC ATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCA CCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCATCCCAT GCCCGTGTGCTCACCCCTGCACCCATCCCATGCCCG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	388	0.0026	235	c.765 others(252): Show c.765+1045_765+1046insCCATGCCCACCATGTGCCCACCCCTGCA CCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCATCCCATGCCCGTGT GCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCAC CCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGC CCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCATCCC ATGCCCG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8			chr4	TogoVar

Search by Variant

Search

Search Results