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
STK32C_chr10_132202492_132312950	132254408	G G	GAGGAGAG others(203): Show GAGGAGAGTAAAATAAGCCTGCCGCAGGGCGCCGGGAATCAGCACTATGT CACCCCGGCACAATGCGTGCACCCTCCACGAAGGCTGCCCCCAGACCTGG GAGCCCAGGAGAGTAAAATAAGCCTGCCGCAGGGTGCCGGGAGTCAGCAC TATGTCACCCCGGCACAATGCGTGCACCCTCCACGAAGGCTGCCCCCAGA CCTGGGAGCCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	368	0.0027	210	c.263 others(227): Show c.263-8663_263-8454dupGGGCTCCCAGGTCTGGGGGCAGCCTTCG TGGAGGGTGCACGCATTGTGCCGGGGTGACATAGTGCTGACTCCCGGCAC CCTGCGGCAGGCTTATTTTACTCTCCTGGGCTCCCAGGTCTGGGGGCAGC CTTCGTGGAGGGTGCACGCATTGTGCCGGGGTGACATAGTGCTGATTCCC GGCGCCCTGCGGCAGGCTTATTTTACTCTCCT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(203): Show TTATATATACTTATATAAGTATGTGTATATATACGTATATATATACTTAT ATAAGTATATATATACGTATATATATACTTATATATATACTTATATAAGT ATATATATACGTATATATATACTTATATATATATACTTATATAAGTATAT ATATACTTATATAAGTATATATATACTTATATAAGTATATATATACTTAT ATATACTTATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp1 HG02895.hp1 others(4): Show HG02280.hp2 HG02717.hp1 HG02895.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp2 NA19043.hp1	a0001 a0011 a0023 others(2): Show a0001 a0011 a0023 a0066 a0112	a0001c0053 a0011c0026 a0023c0056 others(2): Show a0001c0053 a0011c0026 a0023c0056 a0066c0071 a0112c0155	a0001c0053t0001 a0011c0026t0001 a0023c0056t0001 others(2): Show a0001c0053t0001 a0011c0026t0001 a0023c0056t0001 a0066c0071t0001 a0112c0155t0001	a0001c0053t0001g0122 a0011c0026t0001g0064 a0011c0026t0001g0101 others(4): Show a0001c0053t0001g0122 a0011c0026t0001g0064 a0011c0026t0001g0101 a0023c0056t0001g0330 a0023c0056t0001g0331 a0066c0071t0001g0292 a0112c0155t0001g0360	7	362	0.0193	210	c.982 others(227): Show c.9823-755_9823-754insTATAAGTATATATAAGTATATATATACT TATATAAGTATATATATACTTATATAAGTATATATATACTTATATAAGTA TATATATATAAGTATATATATACGTATATATATACTTATATAAGTATATA TATAAGTATATATATACGTATATATATACTTATATAAGTATATATATACG TATATATACACATACTTATATAAGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYTL3_chr6_158645054_158769871	158701273	A A	AAGGAGTG others(203): Show AAGGAGTGTGAGCTGGGATGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAG ATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGT GTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGTAGGAGCCGTGGGAA GAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	292	0.0034	210	c.395 others(227): Show c.395-5941_395-5940insATGTAGATGAAGGAGTGTGAGCTGGGGT GTAGATGAAGGAGGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGA GGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGTAGGAGCCGT GGGAAGAGGGTCATGGAGGAGTGTGAGCTGGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(203): Show GAGGGGGAGGAGGTGGGGAAGAGGGGGAGGGGGGAGGGGGAAGGGGGAGG AGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGAAAGA GGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGAGGGAGG GGAGGGGGTAGAGGGAGGGGATGGAGGAGGGAGGGGAGGGGGAAGAGGGG GAGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0131 a0002c0003t0001g0131	1	274	0.0037	210	c.424 others(227): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCTCCC CTCCCTCCTCCATCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCCTC CCCTCCCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCC CCTCCCCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTC CCCCCTCCCCCTCTTCCCCACCTCCTCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(203): Show GAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAAGGGGGAG GAGGGGGAGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGAAAGA GGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGAGGAGGGAGGG GAGGGGGTAGAGGGAGGGGATGGGAGGAGGGAGGGGAGGGGGAAGAGGGG GAGGAGGTGGA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0200 a0004c0004t0001g0200	1	274	0.0037	210	c.424 others(227): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCTCCC CTCCCTCCTCCCATCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCC CCTCCCCCTTCTTCCCCTCTTCCCCTCCCCCTCCTCCCCCTTCCCCCTCC CCCCTCCCCCTCTTCCCCCACCTCCTCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(203): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTC TCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTC CTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0169 a0001c0002t0020g0169	1	334	0.0030	210	c.10 others(223): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAG AGGGGAGAGGAGGGGAGGAGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992770	G G	GCCCCCCC others(203): Show GCCCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCA CTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCC CCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCACT CCCCCCCACTCCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCCCCCCA CTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0112 a0001c0001t0042g0112	1	280	0.0036	210	c.53 others(221): Show c.5389_*5390insAGTGGGGGGAGTGGGGGGGAGTGGGGGGGGAGTG GGGGGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGG GGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGG GGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGG GGGGAGTGGGGGGGAGTGGGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2214		chr15	TogoVar
TBCD_chr17_82747065_82950914	82765169	C C	CTGTGTGC others(203): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGTTGTCTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTCTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0232 a0001c0002t0022g0232	1	318	0.0031	210	c.334 others(227): Show c.334-1096_334-1095insTGTGCTCATAGTCTGCTTTTCTTACAAG CTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGT TGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTCTG CTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGT CTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82886635	T T	TCTCCCCT others(203): Show TCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	318	0.0031	210	c.153 others(229): Show c.1533+2498_1533+2499insCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCN2_chr22_30602174_30632271	30624053	C C	CATATGTA others(203): Show CATATGTATACATATATACACACATACATATGTATACATATATACACACA CATACATATGTATACATATATACACACACATACATATGTATACATATATA CACACACATACATATGTATACATATATACACACACATACATATGTATACA TATATACACACACATACATATGTATACATATATACACACACATACATATG TATACATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	466	0.0022	210	c.122 others(227): Show c.1222+971_1222+972insTATGTATACATATATACACACATACATA TGTATACATATATACACACACATACATATGTATACATATATACACACACA TACATATGTATACATATATACACACACATACATATGTATACATATATACA CACACATACATATGTATACATATATACACACACATACATATGTATACATA TATACACACACATACATATGTATACATATATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TECTA_chr11_121096243_121196490	121185348	C C	CAATGCTT others(203): Show CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAACGAGTAGGGAA AGCAGATGTTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp1 NA19043.hp2 HG02257.hp1 HG02886.hp1 NA19043.hp2	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0011 a0003c0004 a0018c0053 a0001c0011 a0003c0004 a0018c0053	a0001c0011t0007 a0003c0004t0002 a0018c0053t0002 a0001c0011t0007 a0003c0004t0002 a0018c0053t0002	a0001c0011t0007g0317 a0003c0004t0002g0204 a0018c0053t0002g0276 a0001c0011t0007g0317 a0003c0004t0002g0204 a0018c0053t0002g0276	3	348	0.0086	210	c.600 others(229): Show c.6000-2450_6000-2449insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAACGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TENM4_chr11_78647829_79446030	79139529	C C	CTAGAAAT others(203): Show CTAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATA TATTATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATAT ATAAAATATATATTATATTTATAGAAATATATAAAATATATATTATATTT ATAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATA TATTATATTTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0086 a0001c0001t0015g0086	1	94	0.0106	210	c.-66 others(227): Show c.-66+9180_-66+9181insTAAATATAATATATATTTTATATATTTC TATAAATATAATATATATTTTATATATTTCTATAAATATAATATATATTT TATATATTTCTATAAATATAATATATATTTTATATATTTCTATAAATATA ATATATATTTTATATATTTCTATAAATATAATATATATTTTATATATTTC TATAAATATAATATATATTTTATATATTTCTA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139592	G G	GAAATATA others(203): Show GAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATATAT TATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATA AAATATATATTATATTTATAGAAATATATAAAATATATATTATATTTATA TAAATATATAAAATATATATTATATTTATATAAATATATAAAATATATAT TATATTTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	94	0.0106	210	c.-66 others(227): Show c.-66+9117_-66+9118insATATAAATATAATATATATTTTATATAT TTATATAAATATAATATATATTTTATATATTTATATAAATATAATATATA TTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATAAAT ATAATATATATTTTATATATTTCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1273500	A A	AACCACCA others(203): Show AACCACCATCTAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	392	0.0026	210	c.228 others(229): Show c.2287-1221_2287-1220insCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTA GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTAGATGGTGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273500	A A	ACCATCCA others(203): Show ACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	392	0.0026	210	c.228 others(229): Show c.2287-1221_2287-1220insCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273699	C C	CCACACAT others(203): Show CCACACATCAGACCCCACGACTGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01109.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0256 a0001c0010t0002g0104 a0001c0001t0001g0256 a0001c0010t0002g0104	2	392	0.0051	210	c.228 others(229): Show c.2287-1420_2287-1419insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCAGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1289422	C C	CGCCTCAC others(203): Show CGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTA CACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTACACGTGAC AGGGACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACAC CCGGGGACAGT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	392	0.0026	210	c.157 others(229): Show c.1573+3890_1573+3891insACTGTCCCCGGGTGTCCCTGTCACGT GTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTG AGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1289647	G G	GCACGTGA others(203): Show GCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGA CAGGGACACCCGGGGACCGCGCCTCACTCACCCTGAACGTGACAGGGACA CCCGGGGACAGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGG CCGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGCCGCGCCT CACTCACCCTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02717.hp1 others(1): Show HG02615.hp1 HG02630.hp1 HG02717.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0002g0222 others(1): Show a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0002g0222 a0001c0001t0003g0226	4	392	0.0102	210	c.157 others(229): Show c.1573+3665_1573+3666insTAGGGTGAGTGAGGCGCGGCCCCCGG GTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTT CAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGA GTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290640	T T	TGCCTCAC others(203): Show TGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGGCCGCGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGAC AGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACAC CCGGGGACGGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	392	0.0026	210	c.157 others(229): Show c.1573+2672_1573+2673insGCCGTCCCCGGGTGTCTCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG AGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC ACTGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCC CGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290640	T T	TGCCTCAC others(203): Show TGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGAC AGAGACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACAC CCGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	392	0.0026	210	c.157 others(229): Show c.1573+2672_1573+2673insGCGGCCCCCGGGTGTCCCTGTCACGT GTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTG AGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC ACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290708	G G	GGACACCC others(203): Show GGACACCCGGGGATGGCGCCTCACTCACCCTACACGTGACAGGGACACCC GGGGGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGACCA CGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGATGGCGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGGCCACACCTCAATCACGCTG CACGTGACAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0199 a0001c0017t0002g0199	1	392	0.0026	210	c.157 others(229): Show c.1573+2604_1573+2605insTCTGTCACGTGCAGCGTGATTGAGGT GTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCATCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGTGGTCCCCGGGTGTC CCTGTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCAC GTGTAGGGTGAGTGAGGCGCCATCCCCGGGTGTC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290744	T T	TGACAGAG others(203): Show TGACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGG ACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCAG GGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCA CCTCACTCACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTCACTC ACCCTGCACGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	392	0.0026	210	c.157 others(229): Show c.1573+2568_1573+2569insCCGTGCAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTG TCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCTGGGTGTCCCTGTC ACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAG GGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290879	C C	CACCCGGG others(203): Show CACCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGG GACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGCCACAC CTCAATCACGCTGCACGGGACAGGGACACCCGGGGACGGCGCCTCACTCA CCCTACACGTGACAGGGACACCCGGGGATGGCGCCTCACTCACCCTGCAC GTGACAGAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0109 a0001c0014t0001g0109	1	392	0.0026	210	c.157 others(229): Show c.1573+2433_1573+2434insTTCTCTGTCACGTGCAGGGTGAGTGA GGCGCCATCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGT CCCCGGGTGTCCCTGTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGT GTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGT CCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290934	T T	TGCCTCAC others(203): Show TGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTG CACGTGACAGAGACATCCGGGGACGGCGCCTCACTCACCCTGCACGGGAC AGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACAC CCGGGGACGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19055.hp1 HG00544.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0372 a0001c0001t0001g0373	2	392	0.0051	210	c.157 others(229): Show c.1573+2378_1573+2379insGCCGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTG AGTGAGGCGCCGTCCCCGGATGTCTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290934	T T	TGCCTCAC others(203): Show TGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTG CACGTGACAGAGACATCCGGGGACGGCGCCTCACTCACCCTGCATGGGAC AGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACAC CCGGGGACGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(35): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02165.hp1 HG02602.hp1 HG02735.hp2 HG02895.hp1 HG03139.hp2 HG03209.hp2 NA18906.hp2 NA18941.hp1 NA18948.hp1 NA18998.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19087.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0016 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0007t0001 a0001c0016t0001 a0001c0023t0001	a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0346 others(35): Show a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0346 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0376 a0001c0001t0001g0381 a0001c0001t0002g0207 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0364 a0001c0001t0002g0366 a0001c0006t0001g0216 a0001c0006t0001g0217 a0001c0006t0001g0218 a0001c0006t0001g0219 a0001c0007t0001g0379 a0001c0007t0001g0380 a0001c0016t0001g0345 a0001c0023t0001g0383	38	392	0.0969	210	c.157 others(229): Show c.1573+2378_1573+2379insGCCGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCATGCAGGGTG AGTGAGGCGCCGTCCCCGGATGTCTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290934	T T	TGCCTCAC others(203): Show TGCCTCACTCACCCTGCATGGGACAGGGACACCCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTG CACGTGACAGAGACATCCGGGGACGGCGCCTCACTCACCCTGCATGGGAC AGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACAC CCGGGGACGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02258.hp1 others(14): Show HG01243.hp1 HG02055.hp1 HG02258.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 others(14): Show a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0382 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0003g0226 a0001c0001t0004g0229 a0001c0001t0004g0233	17	392	0.0434	210	c.157 others(229): Show c.1573+2378_1573+2379insGCCGTCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCATGCAGGGTG AGTGAGGCGCCGTCCCCGGATGTCTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCCCATGCAGGGTGAGTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290974	G G	GGCGCCTC others(203): Show GGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCC TGCACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGAC ACCTGGGGACC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19004.hp1 NA18947.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0060 a0001c0002t0001g0061	2	392	0.0051	210	c.157 others(229): Show c.1573+2338_1573+2339insGGTCCCCAGGTGTCCCTGTCACGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAG TGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGC GGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCG GGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291098	A A	ATGGCGCC others(203): Show ATGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGCCACACC TCAATCACGCTGCACGGGACAGGGACACCCGGGGGCCGCGCCTCACTCAC CCTGCACGTGACAGGGACACCCGGGGATGGCGCCTCACTCACCCTACACG TGACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGG ACACCCGGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0199 a0001c0017t0002g0199	1	392	0.0026	210	c.157 others(229): Show c.1573+2214_1573+2215insCCCCCGGGTGTCCCTGTCCCGTGCAG CGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTG AGGCGCCATCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGG CCCCCGGGTGTCCCTGTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGG TGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCA	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291109	C C	CTCACCCT others(203): Show CTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCT ACACGTGACAGGGACACCCGGGGACAGCACCTCACTCACCCTACACGTGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACA CGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGG CCTCGCGTCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	392	0.0026	210	c.157 others(229): Show c.1573+2203_1573+2204insTTGACGCGAGGCCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCACGTG CAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGA GTGAGGTGCTGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCG CCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGA	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291109	C C	CTCACCCT others(203): Show CTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCT ACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCCTACACGTGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACA CGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGG CCTCGCGTCAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG01981.hp1 others(7): Show HG01928.hp1 HG01943.hp1 HG01981.hp1 HG02698.hp1 HG02738.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG04204.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 others(7): Show a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0004t0001g0049 a0001c0004t0001g0053 a0001c0004t0001g0054	10	392	0.0255	210	c.157 others(229): Show c.1573+2203_1573+2204insTTGACGCGAGGCCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCACGTG CAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGA GTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCG CCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGA	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291659	G G	GCTGCACG others(203): Show GCTGCACGGGACAGGGACACCCGGGGACCACGCCTCACTCACCCTACACG TGACAGGGACACCCGGGGATGGCGCCTCACTCACCCTACATGTGACAGGG ACACCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGG GGACCGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGACGCCACG CCTCACTCACC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0190 a0001c0008t0002g0190	1	392	0.0026	210	c.157 others(229): Show c.1573+1653_1573+1654insGGTGAGTGAGGCGTGGCGTCCGGGTG TCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTC CCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACATGTAG GGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTG AGGCGTGGTCCCCGGGTGTCCCTGTCCCGTGCAG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
THEG_chr19_356747_381026	376981	G G	GCCCCACC others(203): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTG TGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	370	0.0027	210	c.-10 others(221): Show c.-1012_-1011insGCACACAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		956		chr19	TogoVar
THEG_chr19_356747_381026	377475	C C	CCCCACCC others(203): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCC CCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0023 a0006c0006t0023	a0006c0006t0023g0165 a0006c0006t0023g0165	1	370	0.0027	210	c.-15 others(221): Show c.-1506_-1505insCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACG GGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1450		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(203): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02132.hp1 NA19090.hp2 HG00544.hp1 HG02132.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0051 a0002c0002t0001 a0002c0002t0051	a0002c0002t0001g0199 a0002c0002t0001g0204 a0002c0002t0051g0179 a0002c0002t0001g0199 a0002c0002t0001g0204 a0002c0002t0051g0179	3	370	0.0081	210	c.-15 others(221): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(203): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	444	0.0023	210	c.227 others(229): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(203): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0004 a0001c0033t0004	a0001c0033t0004g0347 a0001c0033t0004g0347	1	444	0.0023	210	c.227 others(229): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(203): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0031 a0003c0003t0031	a0003c0003t0031g0359 a0003c0003t0031g0359	1	444	0.0023	210	c.227 others(229): Show c.2277+1441_2277+1650dupCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(203): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0007 a0004c0006t0007	a0004c0006t0007g0032 a0004c0006t0007g0032	1	444	0.0023	210	c.227 others(229): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115681	G G	GGCGAAGG others(203): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0167	1	444	0.0023	210	c.227 others(229): Show c.2277+1587_2277+1588insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115723	G G	GGCGAAGG others(203): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0085 a0001c0001t0020g0085	1	444	0.0023	210	c.227 others(229): Show c.2277+1545_2277+1546insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(203): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0216 a0005c0004t0001g0216	1	444	0.0023	210	c.227 others(229): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747411	G G	GCTGGGGT others(203): Show GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	314	0.0032	210	c.189 others(225): Show c.189-894_189-893insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128473509	T T	TCCATCTT others(203): Show TCCATCTTCATCCTTACTTCAGCCTCTATCTTCATCCTCACTCCAGCCCC TATCTTCATCTTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATC TTCATCCTCACTCCAGCCTCTATCTTCGCCTTCACTCCAGCCTCTATCTT CATCCTTACTCCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATC TTCACTCCACC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0096 a0004c0007t0002g0096	1	170	0.0059	210	c.974 others(229): Show c.974+57900_974+57901insCTTACTTCAGCCTCTATCTTCATCCT CACTCCAGCCCCTATCTTCATCTTCACTCCACCCCATCTTCATCCTCTCT CCAGCCTCCATCTTCATCCTCACTCCAGCCTCTATCTTCGCCTTCACTCC AGCCTCTATCTTCATCCTTACTCCAGCCTCTATCTTCATCCTCACTCCAC CCCATCTTCATCTTCACTCCACCCCATCTTCATC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(203): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	94	0.0106	210	c.129 others(231): Show c.1299+34288_1299+34497dupCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCTTCC others(203): Show CAGCTTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	94	0.0106	210	c.129 others(231): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCTGGTGAGTGATGATGGTGGAAGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM18_chr2_658877_682406	671357	C C	CCTGGGAC others(203): Show CCTGGGACTGAACCATGTGAAGGCGCTGCATCCGGGAGGAGAGGCAGGGT CCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCGGGAGGAGAGGCAGG GTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGC AGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGA GGCAGGGTCCT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	442	0.0023	210	c.233 others(227): Show c.233+1450_233+1451insAGGACCCTGCCTCTCCTCCCGGATGCAG GGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATG CAGGGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGA TGCAGGGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCC GGATGCAGCGCCTTCACATGGTTCAGTCCCAG	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM63C_chr14_77176798_77264495	77236382	G G	GGTGGGGG others(203): Show GGTGGGGGGTATGGGGAGACTGGTGGGTGGGGGGTATAGGGAGACTGTGA TGGGTGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGT GGTGGGTGGGGGGTATAGGGAGACTGTGGTGGGTGGGGGGTATGGGGAGA CTGGTGGGGGGGTATGGGGAGACTGTGATGGTAGGGGGAGTCTAGGGAGA CTGTGATGGGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18946.hp1 NA18970.hp2 others(1): Show HG00673.hp2 NA18946.hp1 NA18970.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0077 a0001c0001t0003g0049 a0001c0001t0003g0073 others(1): Show a0001c0001t0001g0077 a0001c0001t0003g0049 a0001c0001t0003g0073 a0001c0001t0003g0079	4	322	0.0124	210	c.543 others(225): Show c.543-241_543-240insTGGGGGGTATGGGGAGACTGGTGGGTGGGG GGTATAGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGATGGGTG GGGGTATGGGGAGACTGTGGTGGGTGGGGGGTATAGGGAGACTGTGGTGG GTGGGGGGTATGGGGAGACTGGTGGGGGGGTATGGGGAGACTGTGATGGT AGGGGGAGTCTAGGGAGACTGTGATGGGTG	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM65_chr8_124301189_124377701	124302518	T T	TATATTCT others(203): Show TATATTCTTTTATATACATATATATATTCTTTTATATATTTATATATAAA TATATATTCTTTTATATATTTATATATATATATTCTTTTATATATTTATA TATATATATTCTTTTATATATTTATATATATATTCTTTTATATATTTATA TATAAATATATATTCTTTTATATATTTATATATAAATATTCTTTTATATA TTTATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0264 a0001c0001t0050g0264	1	348	0.0029	210	c.11 others(223): Show c.11441_*11442insTTATATATAAATATATAAAAGAATATTTATAT ATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATAT ATATATAAATATATAAAAGAATATATATATATAAATATATAAAAGAATAT ATATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAAA GAATATATATATGTATATAAAAGAATAT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3670		chr8	TogoVar
TMPRSS2_chr21_41459305_41513158	41474461	G G	GGGGTGAG others(203): Show GGGGTGAGGGGGTGAAGGCGTGAGTGAGGGGGTAAGGGGATGAGTGAGGG GGTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGC GAGGGGGTGAGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGG GGGCGAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGG GTGAGTGAGGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	382	0.0026	210	c.728 others(225): Show c.728-966_728-965insTCCTCACTCACCCCCTCACCTCCTCACTCA CCCGCTCACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCTCACCC CCTCACCCCCTCACTCACCCCTCACCCCCTCGCCCCCTCACTCACCCCCT CGCCCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTCATCCCCTTAC CCCCTCACTCACGCCTTCACCCCCTCACCC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474461	G G	GGGTGAGG others(203): Show GGGTGAGGGGGTGAAGGCGTGAGTGAGGGGGTAAGGGGATGAGTGAGGGG GTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCG AGGGGGTGAGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGG GGCGAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGG GTGAGTGAGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	382	0.0026	210	c.728 others(225): Show c.728-966_728-965insTCCTCACTCACCCCCCTCACCTCCTCACTC ACCCGCTCACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCTCACC CCCTCACCCCCTCACTCACCCCTCACCCCCTCGCCCCCTCACTCACCCCC TCGCCCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTCATCCCCTTA CCCCCTCACTCACGCCTTCACCCCCTCACC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar

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Search Results (Total: 10000 hits)