Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPEF2_chr5_35612863_35819611	35713934	G G	GTTATATA others(278): Show GTTATATATAGTATATATTTTATATATAGTATATATGTTATATATAGTAT ATATTTTATATATAGTATATATGTTATATATAGTATTATATATTTTATAT ATAGTATATATGTTATATATAGTATTATGTATTTTATATATAGTATATAT GTTATATATAGTATTATGTATTTTATATATAGTATATATGTTATATATAG TATTATGTATTTTATATATAGTATATATGTTATATATAGTATATATGTTA TATATAGTATTACGTATTTTATATATAGTATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	265	0.0038	285	c.291 others(304): Show c.2914+1061_2914+1062insATATTTTATATATAGTATATATGTTA TATATAGTATATATTTTATATATAGTATATATGTTATATATAGTATTATA TATTTTATATATAGTATATATGTTATATATAGTATTATGTATTTTATATA TAGTATATATGTTATATATAGTATTATGTATTTTATATATAGTATATATG TTATATATAGTATTATGTATTTTATATATAGTATATATGTTATATATAGT ATATATGTTATATATAGTATTACGTATTTTATATATAGTATATATATTAT ATATAGTAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(278): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0084 a0003c0003t0001g0084	1	6	0.1667	285	c.138 others(304): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(278): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0090 a0003c0003t0002g0090	1	6	0.1667	285	c.138 others(304): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(278): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0096 a0003c0003t0001g0096	1	6	0.1667	285	c.138 others(304): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STOML3_chr13_38960925_38995831	38988594	A A	ATATATTT others(278): Show ATATATTTTATATCATATATTTTATATATAATATATTTTATATCATATAT TTTATATATAATATATTTTATATCATATATTTTATATATAATATATTTTA TATCATATATTTTATATATAATATATTTTATATCATATATTTTATATATA ATATATTTTATATCATATATTTTATATATATTATATTTTATATCATATAT TTTATATATAATATATTATATTTTATATCATATATTTTATATATAATATA TTATATTTTATATCATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	355	0.0028	285	c.52+ others(300): Show c.52+2075_52+2076insATATATTATATATAAAATATATGATATAAA ATATAATATATTATATATAAAATATATGATATAAAATATAATATATTATA TATAAAATATATGATATAAAATATAATATATATAAAATATATGATATAAA ATATATTATATATAAAATATATGATATAAAATATATTATATATAAAATAT ATGATATAAAATATATTATATATAAAATATATGATATAAAATATATTATA TATAAAATATATGATATAAAATATATTATATATAAAATATATGATATAAA ATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STX2_chr12_130784600_130844250	130807455	A A	AGCGGACC others(278): Show AGCGGACCCCAGAGCCTGCGTGCTTCATCGCCTTGTGCCCATGAGTGGAC CCAGGCAGGCGGACCCCAGAGCCTGCGTGCTTCATCGCCTTGTGCCCATG AGGGGACCCAGGCAGGCGGACCCCAGAGCCCGCGTGCTTCATCGCCTTGT GCCCATGAGTGGACCCAGGCAGGCGGACCCCAGAGCCCGCGTGCTTCATC GCCTTGTGCCCATGAGGGGACCCAGGCAGGCGGACCCCAGAGCCCGCGTG CTTCATCGCCTTGTGCCCATGAGTGGACCCAGGCAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0110 a0004c0006t0013g0110	1	378	0.0026	285	c.355 others(300): Show c.355-366_355-365insCTGCCTGGGTCCACTCATGGGCACAAGGCG ATGAAGCACGCGGGCTCTGGGGTCCGCCTGCCTGGGTCCCCTCATGGGCA CAAGGCGATGAAGCACGCGGGCTCTGGGGTCCGCCTGCCTGGGTCCACTC ATGGGCACAAGGCGATGAAGCACGCGGGCTCTGGGGTCCGCCTGCCTGGG TCCCCTCATGGGCACAAGGCGATGAAGCACGCAGGCTCTGGGGTCCGCCT GCCTGGGTCCACTCATGGGCACAAGGCGATGAAGCACGCAGGCTCTGGGG TCCGC	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	5/10			chr12	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(278): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02004.hp2 HG02257.hp2 others(5): Show HG00323.hp2 HG02004.hp2 HG02257.hp2 HG03098.hp1 NA18522.hp2 NA19010.hp2 NA19066.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0187 a0001c0001t0002g0015 a0001c0001t0002g0085 others(5): Show a0001c0001t0001g0187 a0001c0001t0002g0015 a0001c0001t0002g0085 a0001c0001t0002g0093 a0001c0001t0002g0139 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0005g0143	8	124	0.0645	285	c.113 others(304): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620608	C C	CTATCCAC others(278): Show CTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCAC CATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATC CATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCC CCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACC ATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCA TACCCATCCTATCCACCCACCCACCATCCCCCATCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02040.hp1 HG02145.hp2 others(6): Show HG00597.hp1 HG02040.hp1 HG02145.hp2 HG03654.hp2 HG03704.hp1 NA18747.hp1 NA18971.hp2 NA18980.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0001t0031	a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0001g0112 others(6): Show a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0242 a0001c0001t0003g0149 a0001c0001t0025g0132 a0001c0001t0031g0141	9	245	0.0367	285	c.113 others(304): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCGTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620645	A A	ACCCACCA others(278): Show ACCCACCATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCA CCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTAT CTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCGT ATCCACCCACCCACCATCCCCCATCCTATCTACCCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	253	0.0040	285	c.113 others(304): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCCCCCCACCAT CCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620645	A A	ACCCACCA others(278): Show ACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCA CCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTAT CTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCGT ATCCACCCACCCACCATCCCCCATCCTATCTACCCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0050	1	253	0.0040	285	c.113 others(304): Show c.113-25942_113-25941insCCCATCCTATCCACCCACCCACCATC CACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATAC CCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCA TCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCC ACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCAC CATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCCCC CCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620656	A A	ACCATCCT others(278): Show ACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACA TCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCAT CCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCA CCATCTCCCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCC CATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACC CACCATCCCCCATCCTATCCACCCCCCCACCATCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	254	0.0039	285	c.113 others(304): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCCCCCACCATCTCCCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCAT CTCCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(278): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACAACACACACCATAGACACACACACCATACACCA TAGACACATACCACACACACCATAGACACACACACT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0057 a0001c0004t0057	a0001c0004t0057g0051 a0001c0004t0057g0051	1	46	0.0217	285	c.-62 others(304): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGGTGTGTGTGG TATGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGTGTG GTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGTGTGTG GTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGTGTGGTGTGT GGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATATGGTGTG TGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGGTGTGTGT CTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46939060	G G	GGAGACAC others(278): Show GGAGACACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01496.hp1 HG02622.hp2 others(1): Show HG00642.hp1 HG01496.hp1 HG02622.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0074 a0001c0001t0002g0032 a0001c0001t0002g0097 others(1): Show a0001c0001t0001g0074 a0001c0001t0002g0032 a0001c0001t0002g0097 a0001c0001t0003g0063	4	97	0.0412	285	c.101 others(306): Show c.1015+26886_1015+26887insTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCGAG ACACCATTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128213	C C	CCTCCCCT others(278): Show CCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCC GCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACC CATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCT CCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCC ACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCCAC CCCACCCATCCCCCCTTCCCTCACCCATCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0100 a0001c0001t0007g0036 a0001c0001t0007g0100	2	107	0.0187	285	c.142 others(306): Show c.1425+16611_1425+16612insTCCCCTCTGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCAC CCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCC TCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTC CACCCCACCCATCCTCCCCTCCACCCCACCCATCCCCCCTTCCCTCACCC ATCCCTCCCTC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM4_chr11_78647829_79446030	79138808	C C	CCTTATAT others(278): Show CCTTATATTTATATAAATATATAAAATATATATTATATTTCTATAAATAT ATATTACATTTCCATAAATATATAAAATATATATTATATTTCCATAAATA TATAAAATATATATTATATTTCCATAAATATATAAAATATATATTATATT TCTATAAATATATAAAATATATATTATATTTATATAAATATATATTATAT TTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAATA TATATTATATTTCTATAAATATATAAAATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0025 a0002c0019t0025	a0002c0019t0025g0008 a0002c0019t0025g0008	1	21	0.0476	285	c.-66 others(302): Show c.-66+9901_-66+9902insAATATATATTTTATATATTTATAGAAAT ATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATATAT TTATAGAAATATAATATATATTTATATAAATATAATATATATTTTATATA TTTATAGAAATATAATATATATTTTATATATTTATGGAAATATAATATAT ATTTTATATATTTATGGAAATATAATATATATTTTATATATTTATGGAAA TGTAATATATATTTATAGAAATATAATATATATTTTATATATTTATATAA ATATAAG	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79138808	C C	CCTTATAT others(278): Show CCTTATATTTATATAAATATATAAAATATATATTATATTTCTATAAATAT ATATTACATTTCCATAAATATATAAAATATATATTATATTTCCATAAATA TATAAAATATATATTATATTTCTATAAATATATAAAATATATATTATATT TATATAAATATATATTATATTTCTATAAATATATAAAATATATATTATAT TTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAATA TATATTATATTTCTATAAATATATAAAATATATATT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0029 a0001c0012t0029	a0001c0012t0029g0027 a0001c0012t0029g0027	1	21	0.0476	285	c.-66 others(302): Show c.-66+9901_-66+9902insAATATATATTTTATATATTTATAGAAAT ATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATATAT TTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATA TTTATATAAATATAATATATATTTTATATATTTATAGAAATATAATATAT ATTTTATATATTTATGGAAATATAATATATATTTTATATATTTATGGAAA TGTAATATATATTTATAGAAATATAATATATATTTTATATATTTATATAA ATATAAG	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TEX30_chr13_102760888_102778786	102776099	A A	ACATATAT others(278): Show ACATATATATGATATGTATGTATATACATATATATGTATATGTATATACA TATATGTATGTATATACATATATATGTATATGTATATACATATATGTATG TATATACATATATATGTGTATGTATATACATATATGTATGTATATACATA TATATGTGTATGTATATACATATATGTATGTATATACATATATATGTGTA TGTATATACATATATATGTGTATGTATATACATATATATGATATGTATGT ATATACATATATATGTATATGTATATACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG03654.hp1 HG01069.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	2	227	0.0088	285	c.-24 others(296): Show c.-2479_-2478insATATATATGTATATACATATACATATATATGTAT ATACATACATATCATATATATGTATATACATACACATATATATGTATATA CATACACATATATATGTATATACATACATATATGTATATACATACACATA TATATGTATATACATACATATATGTATATACATACACATATATATGTATA TACATACATATATGTATATACATATACATATATATGTATATACATACATA TATGTATATACATATACATATATATGTATATACATACATATCATATATAT G	TEX30	ENSG00000151287.17	transcript	ENST00000376032.9	protein_coding		2314		chr13	TogoVar
THOP1_chr19_2780503_2820807	2817689	G G	GACCAAGG others(278): Show GACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAG AGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACT AAGGTCAGAGCAGGTGACCAAGGGTGACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGT GACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAG AGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp1 others(15): Show HG01243.hp1 HG01891.hp2 HG02145.hp1 HG02258.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0006 a0001c0001 a0002c0005 a0002c0006	a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0032 a0002c0005t0008 a0002c0006t0008 a0002c0006t0022	a0001c0001t0004g0015 a0001c0001t0004g0023 a0001c0001t0004g0047 others(12): Show a0001c0001t0004g0015 a0001c0001t0004g0023 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0066 a0001c0001t0008g0014 a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0011g0058 a0001c0001t0032g0049 a0002c0005t0008g0053 a0002c0005t0008g0054 a0002c0006t0008g0057 a0002c0006t0022g0048	18	368	0.0489	285	c.44 others(296): Show c.4413_*4414insACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGG TGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGGTGACTAAGGTC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACAAGGGTGACT AAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGT T	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		1883		chr19	TogoVar
TM4SF19_chr3_196318547_196343388	196334965	G G	GATGCCCT others(278): Show GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGT AGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGG GTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	172	0.0058	285	c.-2+ others(300): Show c.-2+3298_-2+3299insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCC TCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCAC CTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCC CTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTAC ACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAG GGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196334965	G G	GATGCCCT others(278): Show GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAG GGGAGGGGTGCTCTGGGAGGGTGGGGGTAGGAGAGAGGAAGGGATGCCCT GAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGT AGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGG GTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	172	0.0058	285	c.-2+ others(300): Show c.-2+3298_-2+3299insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCC TCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCAC CTTCTCAGGGCATCCCTTCCTCTCTCCTACCCCCACCCTCCCAGAGCACC CCTCCCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTAC ACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAG GGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMC7_chr16_18978934_19068942	19034434	T T	TAAAAATA others(278): Show TAAAAATACAGAAAATTAAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0025 a0004c0008t0025	a0004c0008t0025g0198 a0004c0008t0025g0198	1	279	0.0036	285	c.858 others(302): Show c.858-1225_858-1224insAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAG AAAATTA	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMCO3_chr13_113486021_113555229	113542321	G G	GATCACTG others(278): Show GATCACTGCCATGCTTTATTACTGCTGAGATGTGTGGATGATACACACAC GATCGCTGATCACTGCCATGCTTTATTATCGCTGAGATGTGTGGATGATA CGCACATGATCGCTGATCACTGCCATGCTTTATTACCGCTGAGATGTGTG GATACCACGCACACGATTGCTGATCACTGCCATGCTTTATTACCGCTGAG TTGTGTGGATGATACGCACACGATCGCTGATCACTGCCATGCTTTATTAC CGCCGAGATGTGTGGATGATACGCACACGATCGCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0043 a0003c0002t0002g0043	1	294	0.0034	285	c.169 others(304): Show c.1690+2835_1690+2836insTGCTGAGATGTGTGGATGATACACAC ACGATCGCTGATCACTGCCATGCTTTATTATCGCTGAGATGTGTGGATGA TACGCACATGATCGCTGATCACTGCCATGCTTTATTACCGCTGAGATGTG TGGATACCACGCACACGATTGCTGATCACTGCCATGCTTTATTACCGCTG AGTTGTGTGGATGATACGCACACGATCGCTGATCACTGCCATGCTTTATT ACCGCCGAGATGTGTGGATGATACGCACACGATCGCTCATCACTGCCATG CTTTATTAC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113542346	C C	CGAGATGT others(278): Show CGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTA TTACTGCCGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGCCA TGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGGTCGCTGATC ACTGCCATGCTTTATTACTGCTGAGATGTGTGGATGATACGCACACGGTC GCTGATCACTGCCATGCTTTATTATCGCTGAGATGTGTGGATGATACGCA CATGATCGCTGATCACTGCCATGCTTTATTACCGCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0084 a0001c0001t0013g0084	1	364	0.0027	285	c.169 others(304): Show c.1690+2892_1690+2893insTGCCGAGATGTGTGGATGATACGCAC ACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGA TACGCACACGGTCGCTGATCACTGCCATGCTTTATTACTGCTGAGATGTG TGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTATCGCTG AGATGTGTGGATGATACGCACATGATCGCTGATCACTGCCATGCTTTATT ACCGCTGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATG CTTTATTAC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113543295	C C	CCCACCTC others(278): Show CCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCTC CTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCTCCTCCCCCT GCCCCCCGCCCTCCCTGTCCGTGACCCCACCTCCTCCCCCTGCCCTCCCT CTGTCCGTGACCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTC CGTGACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCA CCTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0070 a0010c0015t0002g0070	1	361	0.0028	285	c.169 others(304): Show c.1690+3801_1690+3802insTTGCCCCCCCGCCCTCCCTCTGTCCG TGACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACC TCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCCCACCTCCTCCCCC TGCCCTCCCTCTGTCCGTGACCCCCACCTCCTCCCCTTGCCCCCCCGCCC TCCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCT GTGACCCCCACCTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCAC CTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM163_chr2_134450759_134724000	134607701	G G	GACAGACC others(278): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGATG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAG ACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	178	0.0056	285	c.323 others(304): Show c.323-55611_323-55610insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCATCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGTTCTC GGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134609513	G G	GATGACAG others(278): Show GATGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGAGGACAGACTCCGAGAACTGTGCTGGTGAAAAGGACAG ACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02027.hp2 HG01106.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0028 a0001c0001t0003g0129 a0001c0001t0002g0028 a0001c0001t0003g0129	2	219	0.0091	285	c.323 others(304): Show c.323-57423_323-57422insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGAGTCTGTCCTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCAT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM178B_chr7_141069064_141485380	141336967	C C	CACCACCA others(278): Show CACCACCACCACCACCCCCATCACTACCATCATCATCACCACCACCACCA TCACCACCATCACCACCACCACCATCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCATCACTACCACCACCACCACCACCC CCATCACTACCATCAACATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0049 a0001c0002t0006g0049	1	79	0.0127	285	c.497 others(306): Show c.497-100568_497-100567insTCATCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACTACCACCACCACCACCAC CCCCATCACTACCATCAACATCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCATCACTACCACCACCACC ACCCCCATCACTACCATCATCATCACCACCACCACCATCACCACCATCAC CACCACCACCA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM51_chr1_15148747_15225478	15225218	G G	GGGGGAGG others(278): Show GGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGGGGAGGGAGGGGGAGG GGAGGGAGAGGGAAGGGAGGGGAGGGAGGGGGAGGAAAGCAGAGGGGATG GGAGGAGGAGGGGGAGGGGACAGGAGGGAAGTGAGGGGGAGGGGATGTGA GGGGGGAGGGAGAGGGGAGGGAGAAGGGGAGGGTGAGGGAGGGGGAGGGG GAGGGAGGGAGTGGGGGGAGAGGGAGAGTGGGGGGAGGGGAGAGGGGGAG GGGGGGAGGTGGGGGAGAGGGGGGAGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0230 a0001c0003t0002g0230	1	2	0.5000	285	c.54 others(296): Show c.5475_*5476insGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGG GGAGGGAGGGGGAGGGGAGGGAGAGGGAAGGGAGGGGAGGGAGGGGGAGG AAAGCAGAGGGGATGGGAGGAGGAGGGGGAGGGGACAGGAGGGAAGTGAG GGGGAGGGGATGTGAGGGGGGAGGGAGAGGGGAGGGAGAAGGGGAGGGTG AGGGAGGGGGAGGGGGAGGGAGGGAGTGGGGGGAGAGGGAGAGTGGGGGG AGGGGAGAGGGGGAGGGGGGGAGGTGGGGGAGAGGGGGGAGGGGAGGGGG A	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding		4741		chr1	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(278): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATTATTTATATATAAATATATATTCTTTTATATATT TATATATATATTTATATATAAATATATATTCTTTTATATATATATATAAA TATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATT TATATATAAATATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0047 a0001c0001t0025g0047	1	2	0.5000	285	c.11 others(298): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATAATATAAAAATAT ATATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATAT AAAAGAATATATATGTATATATAAATATATAAAAGAATATATATGTATAT ATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMTC2_chr12_82681906_83139866	82876075	A A	ATTAGTAT others(278): Show ATTAGTATTCATAATTGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGATTAGTATTCATAATTGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGATTAGTATTCATAATTGTGGTGGTGGTGGTGGTGGTGG TGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	52	0.0192	285	c.654 others(304): Show c.654+18496_654+18497insTAGTATTCATAATTGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTATTAGTAATGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGATTAGTATTCATAATTGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTATTAGTAATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATTAGTATTCATAATT GTGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGT GGTGGTGGT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNFRSF18_chr1_1198508_1211592	1202003	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	377	0.0027	285	c.18 others(296): Show c.1840_*1841insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTGGGGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCCGGGC TGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGC T	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1504		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202041	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCCAGCCCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	371	0.0027	285	c.18 others(296): Show c.1802_*1803insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTG GGTACTGGGCTGGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCCGGGC TGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGC T	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1466		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202117	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03579.hp1 HG02055.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	359	0.0056	285	c.17 others(296): Show c.1726_*1727insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTGGGGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCCGGGC TGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGC T	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1390		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202117	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	358	0.0028	285	c.17 others(296): Show c.1726_*1727insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTGGGGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCCGGGC TGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGC T	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1390		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202155	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	380	0.0026	285	c.16 others(296): Show c.1688_*1689insCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTGGGGGCTG GGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTC GGGGCTGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCCGGGC TGGGTACTGGGCTGGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGC T	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1352		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202444	C C	CCAGTACC others(278): Show CCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGT ACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGA GCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCA GCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCA GTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	314	0.0032	285	c.13 others(296): Show c.1399_*1400insCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGT ACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGGTACTGGGCTTGGG GCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGATGGGTACTGG GCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGGCTGG GTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGG GGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGGGGCTGGGTACT G	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1063		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202493	C C	CCTCCAGC others(278): Show CCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAG TACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCC AGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCC ATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCT CCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	285	0.0035	285	c.13 others(296): Show c.1350_*1351insACTGGGTACTGGGCTCGGGGCTGGGTACTGGGCT GGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTA CTGCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGG ATGGGTACTGGGCTGGAGGCTGGGTACTGGGCTTGGGGCTGGGTACTGGG CTGGAGACTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGGCTGGG TACTGGGCTCGGGGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGA G	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1014		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202512	C C	CCTCCAGC others(278): Show CCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAG TACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCG AGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCC AGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCT CCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	285	c.13 others(296): Show c.1331_*1332insACTGGGTACTGGGCTCGGGGCTGGGTACTGGGCT GGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTA CTGCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGG CTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGG CTCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGCTGGG TACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGA G	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		995		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202516	G G	GAGCCCAG others(278): Show GAGCCCAGTACCCAGCCTCCGGCCCAGTACCCAGCCCCGAGCCCAGTACC CATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCC CAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCC TCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	325	0.0031	285	c.13 others(296): Show c.1327_*1328insGGAGACTGGGTACTGGGCTCGGGGCTGGGTACTG GGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTG GGTACTGCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTG GAGGCTGGGTACTGGGCTTGGGGCTGGGTACTGGGCTGGAGACTGGGTAC TGGGCTCGGGGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGA TGGGTACTGGGCTCGGGGCTGGGTACTGGGCCGGAGGCTGGGTACTGGGC T	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		991		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202516	G G	GAGCCCAG others(278): Show GAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACC CATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCC CAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCC CCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	325	0.0031	285	c.13 others(296): Show c.1327_*1328insGGAGGCTGGGTACTGGGCTGGAGACTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTG GGTACTGGGCTGGAGGCTGGGTACTGCGCTCGGGGCTGGGTACTGGGCTC GGGGATGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGGTAC TGGGCTTGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGA TGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGC T	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		991		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202516	G G	GAGCCCAG others(278): Show GAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACC CATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCC CAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCC CCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA19074.hp1 HG01099.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	326	0.0061	285	c.13 others(296): Show c.1327_*1328insGGAGACTGGGTACTGGGCTCGGGGCTGGGTACTG GGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTG GGTACTGCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTC GGGGATGGGTACTGGGCTGGAGGCTGGGTACTGGGCTTGGGGCTGGGTAC TGGGCTGGAGACTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGGA TGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGC T	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		991		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202530	G G	GCCTCCAG others(278): Show GCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCC GAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACC CAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTC TCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG00735.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	124	0.0161	285	c.13 others(296): Show c.1313_*1314insATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTG GAGACTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTAC TGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGCGCTCGGGGC TGGGTACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGGTACTGGGC TCGGGGCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGCTGGGT ACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAG G	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		977		chr1	TogoVar
TNNT1_chr19_55127698_55154206	55134768	A A	AGGAGAAG others(278): Show AGGAGAAGAGGGGAGGGGAGAGGAGGGAAGAAGAAGGGAGGGGAGGGGAG GGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGAGGGCAGA AGACGGAAGGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAATAGGGGAG GGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGGAGGGGAG GGGAGGAAAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	214	0.0047	285	c.612 others(300): Show c.612-565_612-564insCCTCTTCTCCCCTCCCCTTTCCTCCCCTTT CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTTTCCTCCCCTCCCCTTT CCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCC CCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCCTT CCGTCTTCTGCCCTCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCT TCTCCCCTCCCCTCCCCTCCCTTCTTCTTCCCTCCTCTCCCCTCCCCTCT TCTCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55137506	A A	AGACCCCA others(278): Show AGACCCCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGACCCCCAGCCCCT CCTCCCTCAGCCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGCCCAG GAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTGCAGGCCCC GAGCCCCTCCTCCCTCAGACCCAGGAGTGCAGGCCCCCAGCCCCTCCTCT CAGACTGAGTCCAAGCCCCAGACCCTCTCGCATTAGGAACCAGAAGTCTG GCCCCCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp1 HG02083.hp1 others(11): Show HG00621.hp1 HG02027.hp1 HG02083.hp1 HG02809.hp2 HG03017.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 NA18944.hp2 NA18960.hp2 NA18970.hp1 NA18982.hp2 NA18983.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0208 a0001c0001t0001g0279 a0001c0001t0003g0030	14	312	0.0449	285	c.502 others(300): Show c.502-295_502-294insCTGGACTCCTGGGCTGAGGGAGGAGGGGCT GGGGGCCAGACTTCTGGTTCCTAATGCGAGAGGGTCTGGGGCTTGGACTC AGTCTGAGAGGAGGGGCTGGGGGCCTGCACTCCTGGGTCTGAGGGAGGAG GGGCTCGGGGCCTGCACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT GGACTCCTGGGCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGCTGA GGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGCTGAGGGAGGAGGGGCTG GGGTC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	10/13			chr19	TogoVar
TPO_chr2_1408463_1548673	1532308	A A	ATTCCCCC others(278): Show ATTCCCCCACTCTGTGCACCCTCCCCAAATCTACCCAACTCTGTGCAACC TCCTCACATCCCCCCCACTCTGTGCAACCTCCCCAAATCCCCCCTAATCT CTGCAAACTCCCCAAATCCCCCCCATTGTGGGCAACCACACCAAATCCCG CCACTCTGTGCAACCTCACCAAATTCCCCCCATTCTGTGCAACCTCCCCA AATCCACCAACTCTGTGCAACCTCACAAAATTACTCATACTGTGTGCAAC CTCCTCAAATCCCCGTACTGTGTGCAACCTCCTATC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp2 HG00423.hp1 NA18612.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0100 a0003c0006t0004g0101 a0003c0006t0004g0100 a0003c0006t0004g0101	2	115	0.0174	285	c.261 others(304): Show c.2619-8286_2619-8285insTTCCCCCACTCTGTGCACCCTCCCCA AATCTACCCAACTCTGTGCAACCTCCTCACATCCCCCCCACTCTGTGCAA CCTCCCCAAATCCCCCCTAATCTCTGCAAACTCCCCAAATCCCCCCCATT GTGGGCAACCACACCAAATCCCGCCACTCTGTGCAACCTCACCAAATTCC CCCCATTCTGTGCAACCTCCCCAAATCCACCAACTCTGTGCAACCTCACA AAATTACTCATACTGTGTGCAACCTCCTCAAATCCCCGTACTGTGTGCAA CCTCCTATC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPSB2_chr16_1223336_1235184	1231493	G G	GCTCCCCA others(278): Show GCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGCTCCCCATGGTCTCACC CCCAGCCCCAGCCCAGCTCCCCATGGACTAGTCCCAGCCCCCGGCCCCAG CTCCCCATGGTCTCACCCCCAGCTCCAGCCCAGCTCCCCATGGACTAGTC CCAGCCCCAGCCCAGCTCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCT CCCCATGGACTAGTCCCAGCCCCCGGCCCCAGCTCCCCATGGTCTCACCC CCAGCCCCAGCCCAGCTCCCATGGACTAGTCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0028 a0001c0001t0009g0028	1	324	0.0031	285	c.-13 others(296): Show c.-1333_-1332insGCTGGGACTAGTCCATGGGAGCTGGGCTGGGGCT GGGGGTGAGACCATGGGGAGCTGGGGCCGGGGGCTGGGACTAGTCCATGG GGAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGCTGGGGCT GGGACTAGTCCATGGGGAGCTGGGCTGGAGCTGGGGGTGAGACCATGGGG AGCTGGGGCCGGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGCTG GGGGTGAGACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGA G	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1310		chr16	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(278): Show TATACTATTATATCATCATATGATGATATGATACTATTATATCATCATAT GATGATATGATACTATTATATCATCATATGATGATATGATACTATTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0018 a0006c0010t0018	a0006c0010t0018g0144 a0006c0010t0018g0144	1	141	0.0071	285	c.41- others(302): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATACTATATCATC ATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL10_chr1_1168880_1202936	1202003	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0033 a0033	a0033c0054 a0033c0054	a0033c0054t0003 a0033c0054t0003	a0033c0054t0003g0079 a0033c0054t0003g0079	1	374	0.0027	285	c.41 others(296): Show c.4156_*4157insAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CCCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCC G	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4068		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202041	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCCAGCCCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0029 a0029	a0029c0053 a0029c0053	a0029c0053t0003 a0029c0053t0003	a0029c0053t0003g0171 a0029c0053t0003g0171	1	372	0.0027	285	c.41 others(296): Show c.4194_*4195insAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CCCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCA GCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCC G	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4106		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202079	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0047 a0004c0004t0004g0047	1	369	0.0027	285	c.42 others(296): Show c.4232_*4233insAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CCCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCC G	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4144		chr1	TogoVar

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