Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGG others(297): Show GGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGG GAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAG CTCAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0085 a0002c0001t0007g0085	1	352	0.0028	304	c.299 others(321): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCT CTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCA CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCT CTGCTGTCCCCTTCCTGCCCCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623779	T T	TATACACA others(297): Show TATACACACATATATATACACACATATATATACACACATATATACACATA TATACACACATATGTATACATATATACACACACATATGTATACATATATA CACACACACACGTATACATATACACACACACACGTATACATATATACACA CACACACGTATACATATATACACACACACATATGTATACATATATACACA CACATATGTATACATATATACACACACACATATGTATACATATATACACA CACATATATGTATACATATATACACACACATATATGTATACATATATACA CACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp1 HG01884.hp2 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0202 a0003c0003t0004g0203 a0003c0003t0004g0202 a0003c0003t0004g0203	2	466	0.0043	304	c.122 others(321): Show c.1222+699_1222+700insCACACATATATATACACACATATATATA CACACATATATACACATATATACACACATATGTATACATATATACACACA CATATGTATACATATATACACACACACACGTATACATATACACACACACA CGTATACATATATACACACACACACGTATACATATATACACACACACATA TGTATACATATATACACACACATATGTATACATATATACACACACACATA TGTATACATATATACACACACATATATGTATACATATATACACACACATA TATGTATACATATATACACACACATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(297): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCACAGT CACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19057.hp1 NA18977.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0323 a0001c0001t0001g0324	2	392	0.0051	304	c.228 others(323): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGG GTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THSD7B_chr2_136760545_137682718	137502222	T T	TTATCTTT others(297): Show TTATCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01167.hp2 others(12): Show HG00735.hp1 HG00735.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG02056.hp2 HG02257.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03491.hp1 HG03540.hp1 NA18906.hp1 NA18993.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0018	a0001c0001 a0001c0004 a0002c0030 others(7): Show a0001c0001 a0001c0004 a0002c0030 a0003c0002 a0003c0025 a0003c0040 a0004c0007 a0006c0011 a0006c0032 a0018c0041	a0001c0001t0001 a0001c0004t0002 a0001c0004t0006 others(11): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0006 a0002c0030t0004 a0003c0002t0002 a0003c0002t0006 a0003c0002t0009 a0003c0002t0015 a0003c0025t0001 a0003c0040t0011 a0004c0007t0008 a0006c0011t0005 a0006c0032t0004 a0018c0041t0007	a0001c0001t0001g0027 a0001c0004t0002g0039 a0001c0004t0006g0023 others(12): Show a0001c0001t0001g0027 a0001c0004t0002g0039 a0001c0004t0006g0023 a0002c0030t0004g0050 a0003c0002t0002g0061 a0003c0002t0006g0066 a0003c0002t0009g0089 a0003c0002t0015g0038 a0003c0025t0001g0006 a0003c0040t0011g0080 a0004c0007t0008g0048 a0004c0007t0008g0049 a0006c0011t0005g0095 a0006c0032t0004g0036 a0018c0041t0007g0007	15	98	0.1531	304	c.313 others(325): Show c.3138+51205_3138+51206insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTATCTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM120B_chr12_121707752_121787068	121747753	G G	GCTGGGGT others(297): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0275 a0002c0002t0065g0275	1	314	0.0032	304	c.189 others(319): Show c.189-554_189-553insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM131_chr2_97751336_98000948	97965683	T T	TAAAAATT others(297): Show TAAAAATTTCCTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01975.hp1 HG01978.hp2 others(2): Show HG00642.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0183 a0002c0003t0004g0184 a0002c0003t0004g0185 others(2): Show a0002c0003t0004g0183 a0002c0003t0004g0184 a0002c0003t0004g0185 a0002c0003t0004g0186 a0002c0003t0004g0189	5	284	0.0176	304	c.187 others(323): Show c.187+29792_187+29793insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCGGGCCAGGAAATTTTT	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40			chr2	TogoVar
TMEM131_chr2_97751336_98000948	97965683	T T	TAAAAATT others(297): Show TAAAAATTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAAAAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	284	0.0035	304	c.187 others(323): Show c.187+29792_187+29793insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAGGAAATTTTT	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40			chr2	TogoVar
TMEM131_chr2_97751336_98000948	97965683	T T	TAAAAATT others(297): Show TAAAAATTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00597.hp2 others(79): Show HG00280.hp1 HG00544.hp2 HG00597.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18974.hp2 NA18977.hp2 NA18982.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19083.hp2 NA19086.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0002c0003 a0002c0009 others(6): Show a0001c0001 a0002c0003 a0002c0009 a0003c0004 a0004c0008 a0004c0014 a0006c0021 a0007c0019 a0008c0020	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0002c0003t0004 a0002c0009t0004 a0003c0004t0002 a0004c0008t0002 a0004c0014t0002 a0006c0021t0006 a0007c0019t0004 a0008c0020t0004	a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 others(79): Show a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0006g0152 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0169 a0001c0001t0008g0167 a0002c0003t0004g0171 a0002c0003t0004g0172 a0002c0003t0004g0173 a0002c0003t0004g0174 a0002c0003t0004g0175 a0002c0003t0004g0176 a0002c0003t0004g0177 a0002c0003t0004g0178 a0002c0003t0004g0179 a0002c0003t0004g0180 a0002c0003t0004g0181 a0002c0003t0004g0190 a0002c0003t0004g0191 a0002c0003t0004g0192 a0002c0003t0004g0193 a0002c0003t0004g0194 a0002c0003t0004g0195 a0002c0003t0004g0197 a0002c0003t0004g0198 a0002c0003t0004g0199 a0002c0003t0004g0200 a0002c0003t0004g0201 a0002c0009t0004g0182 a0002c0009t0004g0187 a0002c0009t0004g0188 a0003c0004t0002g0096 a0003c0004t0002g0097 a0003c0004t0002g0098 a0003c0004t0002g0099 a0003c0004t0002g0100 a0003c0004t0002g0101 a0003c0004t0002g0102 a0003c0004t0002g0103 a0003c0004t0002g0104 a0003c0004t0002g0105 a0003c0004t0002g0106 a0003c0004t0002g0107 a0003c0004t0002g0108 a0003c0004t0002g0109 a0003c0004t0002g0110 a0003c0004t0002g0111 a0003c0004t0002g0112 a0003c0004t0002g0113 a0003c0004t0002g0114 a0003c0004t0002g0115 a0003c0004t0002g0116 a0003c0004t0002g0117 a0003c0004t0002g0118 a0003c0004t0002g0119 a0003c0004t0002g0120 a0003c0004t0002g0146 a0004c0008t0002g0091 a0004c0008t0002g0092 a0004c0008t0002g0093 a0004c0008t0002g0094 a0004c0008t0002g0095 a0004c0014t0002g0090 a0006c0021t0006g0164 a0007c0019t0004g0196 a0008c0020t0004g0170	82	284	0.2887	304	c.187 others(323): Show c.187+29792_187+29793insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAGGAAATTTTT	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40			chr2	TogoVar
TMEM232_chr5_110414496_110731671	110610240	A A	AAGGAAGG others(297): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAA GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGG GAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp2 HG06807.hp1 HG01891.hp1 HG03516.hp2 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0193 a0006c0008t0002g0194 a0006c0008t0002g0196 a0006c0008t0002g0193 a0006c0008t0002g0194 a0006c0008t0002g0196	3	250	0.0120	304	c.903 others(321): Show c.903-3954_903-3953insCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCT TCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTC CTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT TCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	8/13			chr5	TogoVar
TMEM232_chr5_110414496_110731671	110610240	A A	AAGGAAGG others(297): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAA GGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00621.hp1 others(22): Show HG00099.hp2 HG00408.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01106.hp2 HG02129.hp2 HG02155.hp2 HG02698.hp1 HG03491.hp1 HG03704.hp1 HG04199.hp2 NA18612.hp2 NA18962.hp2 NA18981.hp2 NA18983.hp2 NA18990.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0002c0009t0002	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0063 others(22): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0002g0191 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0186 a0001c0001t0003g0203 a0001c0001t0006g0181 a0001c0001t0006g0184 a0001c0001t0006g0187 a0001c0001t0012g0090 a0002c0009t0002g0190 a0002c0009t0002g0192	25	250	0.1000	304	c.903 others(321): Show c.903-3954_903-3953insCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	8/13			chr5	TogoVar
TMEM242_chr6_157284025_157328519	157311347	T T	TGCGTGCT others(297): Show TGCGTGCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGCTCACCTGGC CTCATCATAGTGTCCCAGTGTGCGTTCACACGGCTTCATCATAGTGGCCC AGTGTGCACTCACATGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTG GCCGCATCATAGTGCCCCAGTGTACACTCACCTGGCCTCCTCATAGTGCC CCAGTGAGCACTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACC TAGCCTCATCATAGTGCCCCAGTCTGCACTCAAGCAGCCTCATCAGAGTG TCGCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0326 a0001c0001t0029g0326	1	344	0.0029	304	c.327 others(321): Show c.327+7434_327+7435insTGCGACACTCTGATGAGGCTGCTTGAGT GCAGACTGGGGCACTATGATGAGGCTAGGTGAGTGCACACTGGGGCACTA TGATGAGGCTAGGTGAGTGCTCACTGGGGCACTATGAGGAGGCCAGGTGA GTGTACACTGGGGCACTATGATGCGGCCAGGTGAGTGCACACTGGGACAC TATGATGAGGCCATGTGAGTGCACACTGGGCCACTATGATGAAGCCGTGT GAACGCACACTGGGACACTATGATGAGGCCAGGTGAGCGCACACTGGGAC AGTATGATGAGGCTAGGTGAGCACGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311428	G G	GGCTTCAT others(297): Show GGCTTCATCATAGTGGCCCAGTGTGCACTCACATGGACTCATCATAGTGT CCCAGTGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCAC CTGGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGT GCCCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTC AAGCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGT GCCCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCTCAGTGTGAGCTC ACCTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	344	0.0029	304	c.327 others(321): Show c.327+7353_327+7354insTAGGTGAGCTCACACTGAGACAGTATGA TGAGGCTAGGTGAGCGGACACTGGGGCACTATGATGAGGCTAGGTGAGCG CACTGCGACACTCTGATGAGGCTGCTTGAGTGCAGACTGGGGCACTATGA TGAGGCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGTG CTCACTGGGGCACTATGAGGAGGCCAGGTGAGTGTACACTGGGGCACTAT GATGCGGCCAGGTGAGTGCACACTGGGACACTATGATGAGTCCATGTGAG TGCACACTGGGCCACTATGATGAAGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311428	G G	GGCTTCAT others(297): Show GGCTTCATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGT CCCAGTGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCAC CTGGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGT GCCCCAGTGTGCACTCACCCGGCCTCATCATAGTGCCCCAGTCTGCACTC AAGCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGT GCCCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCTCAGTGTGAGCTC ACCTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02055.hp1 others(11): Show HG01496.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0020 a0002c0002t0037 a0002c0002t0005 a0002c0002t0020 a0002c0002t0037	a0002c0002t0005g0167 a0002c0002t0005g0168 a0002c0002t0005g0170 others(10): Show a0002c0002t0005g0167 a0002c0002t0005g0168 a0002c0002t0005g0170 a0002c0002t0005g0171 a0002c0002t0005g0172 a0002c0002t0005g0174 a0002c0002t0005g0175 a0002c0002t0005g0176 a0002c0002t0005g0178 a0002c0002t0005g0180 a0002c0002t0005g0181 a0002c0002t0020g0008 a0002c0002t0037g0169	14	344	0.0407	304	c.327 others(321): Show c.327+7353_327+7354insTAGGTGAGCTCACACTGAGACAGTATGA TGAGGCTAGGTGAGCGGACACTGGGGCACTATGATGAGGCTAGGTGAGCG CACTGCGACACTCTGATGAGGCTGCTTGAGTGCAGACTGGGGCACTATGA TGAGGCCGGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGTG CTCACTGGGGCACTATGAGGAGGCCAGGTGAGTGTACACTGGGGCACTAT GATGCGGCCAGGTGAGTGCACACTGGGACACTATGATGAGGCCATGTGAG TGCACACTGGGCCACTATGATGAAGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311428	G G	GGCTTCAT others(297): Show GGCTTCATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGT CCCAGTGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCAC CTGGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGT GCCCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTC AAGCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGT GCCCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCCCAGTGTGAGCTC ACCTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03491.hp2 HG03492.hp1 HG01123.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0003 a0001c0004t0009g0054 a0001c0004t0009g0003 a0001c0004t0009g0054	3	344	0.0087	304	c.327 others(321): Show c.327+7353_327+7354insTAGGTGAGCTCACACTGGGACAGTATGA TGAGGCTAGGTGAGCGGACACTGGGGCACTATGATGAGGCTAGGTGAGCG CACTGCGACACTCTGATGAGGCTGCTTGAGTGCAGACTGGGGCACTATGA TGAGGCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGTG CTCACTGGGGCACTATGAGGAGGCCAGGTGAGTGTACACTGGGGCACTAT GATGCGGCCAGGTGAGTGCACACTGGGACACTATGATGAGGCCATGTGAG TGCACACTGGGCCACTATGATGAAGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311428	G G	GGCTTCAT others(297): Show GGCTTCATCATAGTGGCCCAGTGTGCACTCACATGGCCTCATCATAGTGT CCCAGTGTGCACTCACCTGGCCGCATCATAGTGCCCCAGTGTACACTCAC CTGGCCTCCTCATAGTGCCCCAGTGAGCACTCACCTAGCCTCATCATAGT GCCCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAGTCTGCACTC AAGCAGCCTCATCAGAGTGTCGCAGTGCGCTCACCTAGCCTCATCATAGT GCCCCAGTGTCCGCTCACCTAGCCTCATCATACTGTCTCAGTGTGAGCTC ACCTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp2 HG02886.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0051 a0001c0001t0005g0052	2	344	0.0058	304	c.327 others(321): Show c.327+7353_327+7354insTAGGTGAGCTCACACTGAGACAGTATGA TGAGGCTAGGTGAGCGGACACTGGGGCACTATGATGAGGCTAGGTGAGCG CACTGCGACACTCTGATGAGGCTGCTTGAGTGCAGACTGGGGCACTATGA TGAGGCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGTG CTCACTGGGGCACTATGAGGAGGCCAGGTGAGTGTACACTGGGGCACTAT GATGCGGCCAGGTGAGTGCACACTGGGACACTATGATGAGGCCATGTGAG TGCACACTGGGCCACTATGATGAAGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312920	C C	CCTCATCA others(297): Show CCTCATCACAGTGTCCCAGTGTGTGCTGAGCTAGCCTCATCATAGTGCCC CAGTGTACACTCATCTAGCCTTATCATAGTTTCCCAGTGTGCACTCACCT AGCCTCAACATAGTGCCCCAGTGTGCGTTGACCTGGCCTCATTATAGTGC CCCAGTGTGCATTTACCTAGCCTCATCATAGTGCCCCAGTGTGCGCTCAC CTAGCCTCATCAGTGTCACAGTGTGCACTCACCTAGCGTCATCATAGTGC CCCAGTGTGCACTCACCGAGCCTCATCATAGTGCCCCACTGTGCACTCAC CTAGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG03195.hp2 others(3): Show HG02717.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0070 a0001c0001t0007g0068 a0001c0001t0007g0069 others(3): Show a0001c0001t0005g0070 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0073	6	344	0.0174	304	c.327 others(321): Show c.327+5861_327+5862insACTAGGTGAGTGCACAGTGGGGCACTAT GATGAGGCTCGGTGAGTGCACACTGGGGCACTATGATGACGCTAGGTGAG TGCACACTGTGACACTGATGAGGCTAGGTGAGCGCACACTGGGGCACTAT GATGAGGCTAGGTAAATGCACACTGGGGCACTATAATGAGGCCAGGTCAA CGCACACTGGGGCACTATGTTGAGGCTAGGTGAGTGCACACTGGGAAACT ATGATAAGGCTAGATGAGTGTACACTGGGGCACTATGATGAGGCTAGCTC AGCACACACTGGGACACTGTGATGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312967	C C	CCCCAGTG others(297): Show CCCCAGTGACCGCTCACGTAGCCTCGTCATAGTACCCCAGTGTGCACTCA CTTAGCCTCGTCATAGTGCGCCACTGTGCGTTCACCTGGCCTCACAATAG TGCCCCAGTGGGCGCTCACCTGGTCTCATCATAGTGCCCCAGTGTGCGCT GACTTAGCCTCTTCATACTGTCCCAGTGTGCACTCACCTAGCCTCATCAT AGTGTCCATGTGTGCGCTCAGCCAGGCTCATCATAGTGTCCCAGTGTGCA CTCACCTAGCCTCATCAGAGTCCCAGGGTGCGCTCACCTAGCCTCATCAT AGTAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	344	0.0029	304	c.327 others(321): Show c.327+5814_327+5815insATACTATGATGAGGCTAGGTGAGCGCAC CCTGGGACTCTGATGAGGCTAGGTGAGTGCACACTGGGACACTATGATGA GCCTGGCTGAGCGCACACATGGACACTATGATGAGGCTAGGTGAGTGCAC ACTGGGACAGTATGAAGAGGCTAAGTCAGCGCACACTGGGGCACTATGAT GAGACCAGGTGAGCGCCCACTGGGGCACTATTGTGAGGCCAGGTGAACGC ACAGTGGCGCACTATGACGAGGCTAAGTGAGTGCACACTGGGGTACTATG ACGAGGCTACGTGAGCGGTCACTGGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312967	C C	CCCCAGTG others(297): Show CCCCAGTGACCGCTCACGTAGCCTCGTCATAGTACCCCAGTGTGCACTCA CTTAGCCTCGTCATAGTGCGCCACTGTGCGTTCACCTGGCCTCACAATAG TGCCCCAGTGGGCGCTCACCTGGTCTCATCATAGTGCCCCAGTGTGCGCT GACTTAGCCTCTTCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCAT AGTGTCCATGTGTGCGCTCAGCCAGGCTCATCATAGTGTCCCAGTGTGCA CTCACCTAGCCTCATCAGAGTCCCAGGGTGCGCTCACCTAGCCTCATCAT AGTAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	344	0.0029	304	c.327 others(321): Show c.327+5814_327+5815insATACTATGATGAGGCTAGGTGAGCGCAC CCTGGGACTCTGATGAGGCTAGGTGAGTGCACACTGGGACACTATGATGA GCCTGGCTGAGCGCACACATGGACACTATGATGAGGCTAGGTGAGTGCAC ACTGGGACACTATGAAGAGGCTAAGTCAGCGCACACTGGGGCACTATGAT GAGACCAGGTGAGCGCCCACTGGGGCACTATTGTGAGGCCAGGTGAACGC ACAGTGGCGCACTATGACGAGGCTAAGTGAGTGCACACTGGGGTACTATG ACGAGGCTACGTGAGCGGTCACTGGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113815986	G G	GGAGGTGC others(297): Show GGAGGTGCAGTCACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGC GTGTTTGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGA CACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGTATGG GGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAA GCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGG GACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGAT GGGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0057 a0001c0002t0040 a0001c0002t0057	a0001c0002t0040g0216 a0001c0002t0057g0215 a0001c0002t0040g0216 a0001c0002t0057g0215	2	260	0.0077	304	c.40 others(315): Show c.4098_*4099insGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGC GTGTTTGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGA CACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGTATGG GGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAA GCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGG GACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGAT GGGGAGAGGTGCAGTCACTG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4099	INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113816055	T T	TATGGGGA others(297): Show TATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGTTTCTTTTCGGGGA GGCAAGCGTGTTTGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGG TCAGGGACACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTC TGTATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGG GAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACT GCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGT TCTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0160 a0001c0001t0160	a0001c0001t0160g0127 a0001c0001t0160g0127	1	260	0.0039	304	c.41 others(315): Show c.4162_*4163insGTGCAGTCACTGGTCAGGGACACGGTTTCTTTTC GGGGAGGCAAGCGTGTTTGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGGTCAGGGACACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCG TGTTCTGTATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAG TCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAG CGTGTTCTGGATGGGGAGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4163	INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113816225	C C	CACTGCTC others(297): Show CACTGCTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGC GTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTT TTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCA GTCACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGCGTGTTTGCA GCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGTTTC TTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTG CAGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 HG03471.hp1 HG02647.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0062 a0001c0001t0061 a0001c0001t0062	a0001c0001t0061g0050 a0001c0001t0062g0218 a0001c0001t0061g0050 a0001c0001t0062g0218	2	260	0.0077	304	c.43 others(315): Show c.4326_*4327insCTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGC GTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGA CACGGGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGATGG GGAGAGGTGCAGTCACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAA GCGTGTTTGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGG GACACGGTTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGAT GGGGAGAGGTGCAGTTACTG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4327	INFO_REALIGN_3_PRIME	chr13	TogoVar
TNFRSF18_chr1_1198508_1211592	1202003	C C	CAGCCCAG others(297): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAG CCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	386	0.0026	304	c.18 others(315): Show c.1840_*1841insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTG GGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTG GGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTAC TGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGC TGGGTACTGGGCTCCGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGC TCGGGGCTGGGTACTGGGCT	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1504		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202440	C C	CAGCCCAG others(297): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAG CCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAG CCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01934.hp2 NA18522.hp1 others(3): Show HG00642.hp1 HG01934.hp2 NA18522.hp1 NA18979.hp1 NA19005.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	6	386	0.0155	304	c.14 others(315): Show c.1403_*1404insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG CGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTAC TGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGC TGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGC TCGGGGCTGGGTACTGGGCT	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1067		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202444	C C	CCAGTACC others(297): Show CCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGT ACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGA GCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCA GTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCA GTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCC GAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA18948.hp1 NA19007.hp1 HG00323.hp2 NA18948.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0003 a0001c0001t0002g0008	3	386	0.0078	304	c.13 others(315): Show c.1399_*1400insCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGT ACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGGTACTGGGCTTGGG GCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGATGGGTACTGG GCTCGGGGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGG GTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCG GGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACT GGGCTGGAGGCTGGGTACTG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1063		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202495	C C	CCGAGCCC others(297): Show CCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAG TACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG AGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCC AGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	304	c.13 others(315): Show c.1348_*1349insAGACTGGGTACTGGGCTCGGGGCTGGGTACTGGG CTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGG TACTGCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGA GGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGACTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGCTG GGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTG GAGGCTGGGTACTGGGCTCG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1012		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202530	G G	GCCCCGAG others(297): Show GCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCC GAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCC CAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02145.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	386	0.0052	304	c.13 others(315): Show c.1313_*1314insATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTG GAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTAC TGCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGGC TGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGC TCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGCTGGGT ACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAG GCTGGGTACTGGGCTCGGGG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		977		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202530	G G	GCCTCCAG others(297): Show GCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCA GTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTC CAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACC CATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	386	0.0026	304	c.13 others(315): Show c.1313_*1314insATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTG GAGACTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTAC TGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGCGCTCGGGGC TGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGGTACTGGGC TTGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGATGGGT ACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGG GCTGGGTACTGGGCTGGAGG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		977		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202530	G G	GCCTCCGG others(297): Show GCCTCCGGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCA GTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTC CAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACC CATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02451.hp1 others(7): Show HG01109.hp1 HG02257.hp2 HG02451.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0013 others(1): Show a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0051	10	386	0.0259	304	c.13 others(315): Show c.1313_*1314insATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTG GAGACTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTAC TGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGCGCTCGGGGC TGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGGTACTGGGC TTGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGATGGGT ACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGG GCTGGGTACTGGGCCGGAGG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		977		chr1	TogoVar
TNS1_chr2_217794791_218007995	217809548	G G	GATGGATG others(297): Show GATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGATGGA TGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGATGGATGCATG CATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATAGGTGCATG GATGGATGCATGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGA TGGATGGATGGATGGATGGGTGCATGGATGGATGGATGGACGGATGGATG GGTGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02970.hp1 HG02647.hp1 HG02723.hp1 HG02970.hp1	a0003 a0006 a0003 a0006	a0003c0020 a0006c0064 a0006c0108 a0003c0020 a0006c0064 a0006c0108	a0003c0020t0012 a0006c0064t0001 a0006c0108t0085 a0003c0020t0012 a0006c0064t0001 a0006c0108t0085	a0003c0020t0012g0164 a0006c0064t0001g0061 a0006c0108t0085g0139 a0003c0020t0012g0164 a0006c0064t0001g0061 a0006c0108t0085g0139	3	244	0.0123	304	c.527 others(321): Show c.5273+274_5273+275insGCACCCATCCATCCGTCCATCCATCCAT CCATGCACCCATCCATCCATCCATCCATCCATGCACCTATCCATCCATCC ATCCATCCATCCATCCATGCATCCATCCATGCACCTATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCACCTATCCATCCATCCATGCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATGCACCTATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCACCTATCCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TPO_chr2_1408463_1548673	1422337	C C	CCTGGACC others(297): Show CCTGGACCGACATTGTGCAGACGCCGCGCTGGACAGACCTCGTGCAGGCG CCTCTCCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGACCTCGTGC AGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGACCGACCT CGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGAC AGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGCCGCCTCTC CTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGTG CCGCG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0007 a0006c0013t0007	a0006c0013t0007g0122 a0006c0013t0007g0122	1	130	0.0077	304	c.95- others(317): Show c.95-698_95-697insATTGTGCAGACGCCGCGCTGGACAGACCTCGT GCAGGCGCCTCTCCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGAC CTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGA CCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCTCT CCTGGACAGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGCC GCCTCTCCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGT GCAGGTGCCGCGCTGGACCGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1422344	C C	CGACATTG others(297): Show CGACATTGTGCAGACGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCC TGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGACCTCGTGCAGCCGCC TCTCCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACCGACATTGTGCA GACGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACCGACCTC GTGCAGGCGCCGCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAG ACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGCCGCCTCTCCT GGACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp2 HG00423.hp1 NA18612.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0096 a0003c0006t0004g0097	2	130	0.0154	304	c.95- others(317): Show c.95-698_95-697insATTGTGCAGACGCCGCGCTGGACAGACCTCGT GCAGGCGCCTCTCCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGAC CTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCTCTCCTGG ACCGACATTGTGCAGACGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCT CCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACCGACCTCGTGCAGCCG CCTCTCCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTG CAGCCGCCTCTCCTGGACAGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPC4AP_chr20_34997404_35097807	35097662	C C	CGTGTGTA others(297): Show CGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGCG TATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATA TACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATA CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATACACATATATACACGCGTGCGTATACACATATATA CACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	334	0.0030	304	c.-48 others(315): Show c.-4882_-4881insATGTGTATATATGTGTATACGCACGCGTGTATAT ATGTGTATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTAT ATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATAT ATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATAC GCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACACACGC GTGTATATGTATATACACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4856		chr20	TogoVar
TRPC6_chr11_101446564_101589007	101558204	T T	TGTATACA others(297): Show TGTATACATGTATACATGTATACATGTATATATGTATACATGTATACGGG TATACATGTATATATGTATACATGTATACGGGTATACATGTATATATGTA TACATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTATA CATGTATATATGTATACATGTATACGGGTATACATGTATATATGTATACA TGTATACGGGTATACATGTATATATGTATACATGTATACGGGTATACATG TATATATGTATACATGTATACGGGTATACATGTATATATGTATACATGTA TACGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0213 a0001c0001t0011g0213	1	252	0.0040	304	c.170 others(323): Show c.170+25129_170+25130insCCGTATACATGTATACATATATACAT GTATACCCGTATACATGTATACATATATACATGTATACCCGTATACATGT ATACATATATACATGTATACCCGTATACATGTATACATATATACATGTAT ACCCGTATACATGTATACATATATACATGTATACCCGTATACATGTATAC ATATATACATGTATACCCGTATACATGTATACATATATACATGTATACCC GTATACATGTATACATATATACATGTATACCCGTATACATGTATACATAT ATACATGTATACATGTATACATGTATAC	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204407	C C	CATTATGA others(297): Show CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATACTATATCATCATAT AACATTATGATATACTATATCATCATATAACATTATGATATGATACTATA TCATCATATAACATTATGATATGATACTATATCATCATATAACATTATGA TATGATACTATATCATCATATAACATTATGATATGATACTATATCATAAT ATAAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18999.hp1 NA18940.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0119 a0001c0001t0007g0167 a0001c0001t0004g0119 a0001c0001t0007g0167	2	174	0.0115	304	c.41- others(321): Show c.41-49090_41-49089insTATGATATGATACTATATCATCATATAA CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATACTATATCATCATATAACATTATGATATACTATATCATCATATAAC ATTATGATATGATACTATATCATCATATAACATTATGATATGATACTATA TCATCATATAACATTATGATATGATACTATATCATCATATAACATTATGA TATGATACTATATCATAATATAATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204407	C C	CATTATGA others(297): Show CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATACTATATCATCATATAACATTATGATATACTATA TCATCATATAACATTATGATATGATACTATATCATCATATAACATTATGA TATGATACTATATCATCATATAACATTATGATATGATACTATATCATAAT ATAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0082 a0001c0001t0009g0082	1	174	0.0058	304	c.41- others(321): Show c.41-49090_41-49089insTATGATATGATACTATATCATCATATAA CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATACTATATCATCATAT AACATTATGATATACTATATCATCATATAACATTATGATATGATACTATA TCATCATATAACATTATGATATGATACTATATCATCATATAACATTATGA TATGATACTATATCATAATATAATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(297): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(125): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02965.hp1 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18747.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19067.hp2 NA19072.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0010	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0002c0010 a0004c0012 a0006c0020 a0007c0019 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0009t0002 a0001c0011t0002 a0002c0010t0001 a0004c0012t0002 a0006c0020t0002 a0007c0019t0002 a0010c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(113): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0268 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0005g0102 a0001c0002t0001g0014 a0001c0002t0001g0090 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0160 a0001c0002t0002g0224 a0001c0002t0002g0288 a0001c0002t0002g0300 a0001c0009t0002g0242 a0001c0009t0002g0274 a0001c0011t0002g0257 a0002c0010t0001g0042 a0002c0010t0001g0043 a0004c0012t0002g0259 a0006c0020t0002g0248 a0007c0019t0002g0244 a0010c0015t0001g0041	128	336	0.3810	304	c.514 others(321): Show c.514-3951_514-3950insTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(297): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTT AAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	336	0.0030	304	c.514 others(321): Show c.514-3951_514-3950insTTTTTAAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202440	C C	CAGCCCAG others(297): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAG CCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAG CCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01934.hp1 NA18522.hp2 others(4): Show HG00642.hp2 HG01934.hp1 NA18522.hp2 NA18988.hp1 NA19004.hp2 NA19005.hp1 NA19062.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0003 a0002c0001 a0003c0006 others(1): Show a0001c0003 a0002c0001 a0003c0006 a0015c0040	a0001c0003t0003 a0002c0001t0002 a0003c0006t0003 others(1): Show a0001c0003t0003 a0002c0001t0002 a0003c0006t0003 a0015c0040t0003	a0001c0003t0003g0011 a0001c0003t0003g0035 a0001c0003t0003g0140 others(3): Show a0001c0003t0003g0011 a0001c0003t0003g0035 a0001c0003t0003g0140 a0002c0001t0002g0030 a0003c0006t0003g0249 a0015c0040t0003g0246	7	382	0.0183	304	c.45 others(315): Show c.4593_*4594insAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCA GTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCA GTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTC CAGCCCAGTACCCAGCCCCG	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4505		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202530	G G	GCCCCGAG others(297): Show GCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCC GAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCC CAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02145.hp2 HG02559.hp2	a0005 a0029 a0005 a0029	a0005c0015 a0029c0049 a0005c0015 a0029c0049	a0005c0015t0001 a0029c0049t0001 a0005c0015t0001 a0029c0049t0001	a0005c0015t0001g0157 a0029c0049t0001g0169 a0005c0015t0001g0157 a0029c0049t0001g0169	2	382	0.0052	304	c.46 others(315): Show c.4683_*4684insCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTAC CCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGC CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGT CTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGT ACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAT	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4595		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202530	G G	GCCTCCAG others(297): Show GCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCA GTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTC CAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACC CATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0012 a0012	a0012c0031 a0012c0031	a0012c0031t0003 a0012c0031t0003	a0012c0031t0003g0039 a0012c0031t0003g0039	1	382	0.0026	304	c.46 others(315): Show c.4683_*4684insCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTAC CCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGC CCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGC CTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAT	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4595		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202530	G G	GCCTCCGG others(297): Show GCCTCCGGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCA GTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTC CAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACC CATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02723.hp2 HG03130.hp2 others(3): Show HG01109.hp2 HG02723.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0012	a0001c0016 a0003c0006 a0005c0012 others(1): Show a0001c0016 a0003c0006 a0005c0012 a0012c0018	a0001c0016t0004 a0003c0006t0004 a0005c0012t0004 others(1): Show a0001c0016t0004 a0003c0006t0004 a0005c0012t0004 a0012c0018t0002	a0001c0016t0004g0089 a0003c0006t0004g0013 a0003c0006t0004g0076 others(2): Show a0001c0016t0004g0089 a0003c0006t0004g0013 a0003c0006t0004g0076 a0005c0012t0004g0019 a0012c0018t0002g0014	6	382	0.0157	304	c.46 others(315): Show c.4683_*4684insCCTCCGGCCCAGTACCCAGCCCCGAGCCCAGTAC CCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGC CCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGC CTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAT	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4595		chr1	TogoVar
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(297): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAA AGACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCC CACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACAC CCTCGTAAAGACCCCCATCACACCATCCTGAAGACCCCACACACCCTCGT AAAGACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGAC CCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCA CACCG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0042 a0005c0005t0002g0042	1	224	0.0045	304	c.225 others(323): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBB2B_chr6_3219277_3232653	3222032	T T	TCGCCACC others(297): Show TCGCCACCACCACCATCACCACCACCACCACCACCACCACACTACCACCA CCACCATCACCATCATCATCACCACCACCACGACCACCACAACACTACCA CATCACCACCACCATCACCACCACCACCATCACCACCACTACCACCACAA TCACCACTACCACCATCACCACCACTACTACCATCACCACCACCACCACC ATCACCACTACCACCACCACCACCACACTACCACATCACCACCACCACCA CCATTACCACCACCACCACCACCACTATCACCATCATCACCATCACCACC ATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG03453.hp2 HG02572.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	360	0.0083	304	c.27 others(315): Show c.2718_*2719insGTGATGGTGGTGATGGTGATGATGGTGATAGTGG TGGTGGTGGTGGTGGTAATGGTGGTGGTGGTGGTGATGTGGTAGTGTGGT GGTGGTGGTGGTAGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGG TGGTGATGGTGGTAGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGG TGATGATGATGGTGATGGTGGTGGTGGTAGTGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGCG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2244		chr6	TogoVar
TYW1_chr7_66991833_67244514	67016239	G G	GGGGAGTT others(297): Show GGGGAGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCATGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp1 others(45): Show HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG01074.hp2 HG01099.hp2 HG01934.hp1 HG01943.hp1 HG02004.hp2 HG02056.hp2 HG02080.hp1 HG02148.hp1 HG02273.hp2 HG02647.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18959.hp1 NA18963.hp2 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18999.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0013 a0009c0008 a0001c0002 a0001c0013 a0009c0008	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0013t0001 a0009c0008t0003	a0001c0002t0001g0339 a0001c0002t0003g0281 a0001c0002t0003g0284 others(45): Show a0001c0002t0001g0339 a0001c0002t0003g0281 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0301 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0002t0003g0316 a0001c0002t0003g0317 a0001c0002t0003g0319 a0001c0002t0003g0320 a0001c0002t0003g0321 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0325 a0001c0002t0003g0326 a0001c0002t0003g0327 a0001c0002t0003g0328 a0001c0002t0003g0329 a0001c0002t0003g0330 a0001c0002t0003g0331 a0001c0002t0003g0332 a0001c0002t0003g0333 a0001c0002t0003g0335 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0338 a0001c0002t0003g0340 a0001c0002t0003g0341 a0001c0002t0003g0342 a0001c0002t0003g0343 a0001c0002t0003g0344 a0001c0002t0003g0345 a0001c0002t0003g0346 a0001c0002t0003g0347 a0001c0002t0003g0348 a0001c0002t0003g0349 a0001c0002t0003g0350 a0001c0002t0003g0351 a0001c0002t0003g0352 a0001c0002t0003g0353 a0001c0002t0009g0324 a0001c0013t0001g0218 a0009c0008t0003g0334	48	364	0.1319	304	c.571 others(321): Show c.571-1601_571-1600insTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCA TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGGGAGTTTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW3_chr1_74728152_74771677	74758446	A A	ATCATTTA others(297): Show ATCATTTACCAGCCATTTTCATGGTTCTGATTCTTATCGTCATTTACCAG CCATTTTCATGGTTCTGATTCTTATCGTCATTTACCAGCCATTTTCATGG TTCTGATTCTTATCGTCATTTACCAGCCATTTTCATGGTTCTGATTCTTA TCGTCATTTACCAGCCATTTTCATGGTTCTGATTCTTATCGTCATTTACC AGCCATTTTCATGGTTCTGATTCTTATCGTCATTTACCAGCCATTTTCAT GGTTCTGATTCTTATCGTCATTTACCAGCCATTTTCATGGTTCTGATTCT TATCG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18962.hp2 NA18966.hp1 HG02523.hp1 NA18962.hp2 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0087 a0002c0002t0001g0031 a0002c0002t0001g0087	3	332	0.0090	304	c.561 others(321): Show c.561-5183_561-5182insGTCATTTACCAGCCATTTTCATGGTTCT GATTCTTATCGTCATTTACCAGCCATTTTCATGGTTCTGATTCTTATCGT CATTTACCAGCCATTTTCATGGTTCTGATTCTTATCGTCATTTACCAGCC ATTTTCATGGTTCTGATTCTTATCGTCATTTACCAGCCATTTTCATGGTT CTGATTCTTATCGTCATTTACCAGCCATTTTCATGGTTCTGATTCTTATC GTCATTTACCAGCCATTTTCATGGTTCTGATTCTTATCGTCATTTACCAG CCATTTTCATGGTTCTGATTCTTATC	TYW3	ENSG00000162623.16	transcript	ENST00000370867.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(297): Show ATATATATACGTATATATATATACGTATATATATATGTATATATATATAC GTATATATATATGTATATATATATGTGTATATATATGTATATATATACGT ATATATATATACGTATATATATATGTATATATATGTATATATATACGTAT ATATGTGTATATATATGTATATATATACGTATATATGTATATATATATGT ATATATATACGTATATATATGTATATATACGTATATATATGTGTATATAT ACGTATATATATGTATATATATGTATATATATGTATATATGTATATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	186	0.0054	304	c.114 others(325): Show c.1149+22381_1149+22382insCACATATATATATACATATATACA TATATATACATATATATACATATATATACGTATATATACACATATATATA CGTATATATACATATATATACGTATATATATACATATATATATACATATA TACGTATATATATACATATATATACACATATATACGTATATATATACATA TATATACATATATATATACGTATATATATATACGTATATATATACATATA TATACACATATATATATACATATATATATACGTATATATATATACATATA TATATACGTATATATATATACGTATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(297): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	320	0.0031	304	c.-38 others(315): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(297): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	320	0.0031	304	c.-38 others(315): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACACATATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370228	T T	TATATATG others(297): Show TATATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGTGTGTA TATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATATGTGTGTGTATA TGTGTGTGTGTGTATATGCGTGTGTATGTGTGTGTATATGCGTGTGTATA TGTGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATG TGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGCGTG TGTATGTGCGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTGTA TATGC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0150 a0001c0002t0003g0150	1	468	0.0021	304	c.-6- others(319): Show c.-6-3487_-6-3486insATATATGTGTGTGTATATGTGTGTGTATAT GCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGCGT GTGTATATGTGTGTGTATATGTGTGTGTGTGTATATGCGTGTGTATGTGT GTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTGTATATGTGT GTGTATGTGTGTGTGTATGTGTGTATATGCGTGTGTATATGCGTGTGTAT ATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGTGTATATGT GTGTATATGTGTGTGTGTATATGC	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
ULK1_chr12_131889622_131928150	131917075	G G	GTGGGGCT others(297): Show GTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGG CTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTC GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0025 a0002c0004t0025	a0002c0004t0025g0143 a0002c0004t0025g0143	1	344	0.0029	304	c.218 others(319): Show c.2182+34_2182+35insCGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGG AGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGCTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)