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
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(191): Show GTATATATATATATATATATATATATATATACTCTAAGTATTATATATTA TATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTAT ATATATATATATTTATACACACATATATATACATACACATATATATATAC ACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18960.hp2 NA18964.hp2 NA18953.hp1 NA18960.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0115 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0115	3	168	0.0179	198	c.240 others(217): Show c.2402+1016_2402+1017insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1071286	G G	GAGCCCCC others(191): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0024 a0002c0012t0024	a0002c0012t0024g0074 a0002c0012t0024g0074	1	104	0.0096	198	c.224 others(217): Show c.2241+2346_2241+2347insGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATACCCGTGTGCTGGGGGCTCAC TGGGGGCTGCATAAGTGTGATACCGTGTGCTGGGGGCTCACTGGGGGCTG CATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46656268	G G	GTACAGTA others(191): Show GTACAGTATATATTATACTGTATATGATATACTATACAGTATATATTATA CTGTATATGATATACTATACAGTATATATTATACTGTATATGATATACTA TACAGTATATATTATACTGTATATGATATACTATACAGTATATATTATAC TGTATATGATATACTATACAGTATATATTATACTGTATATGATATACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 NA18995.hp1 HG02738.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0005 a0001c0002t0002 a0001c0005t0005	a0001c0002t0002g0218 a0001c0005t0005g0240 a0001c0002t0002g0218 a0001c0005t0005g0240	2	310	0.0065	198	c.-48 others(209): Show c.-4848_-4847insTAGTATATCATATACAGTATAATATATACTGTAT AGTATATCATATACAGTATAATATATACTGTATAGTATATCATATACAGT ATAATATATACTGTATAGTATATCATATACAGTATAATATATACTGTATA GTATATCATATACAGTATAATATATACTGTATAGTATATCATATACAGTA TAATATATACTGTA	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4810		chr20	TogoVar
SLC22A3_chr6_160343378_160457577	160456788	G G	GTGGTAGT others(191): Show GTGGTAGTAGTGGTAGTACTGATGATGGTGGTGATGACGGTGATGATGTT GAGGGTGATGTAATAGTGACGGTGGTGGAATGGTGGTGATGGTGATTGTG GTAGTAGTGGTAGTGGTAGTAATGACGGTGGTGGCAATGGTGACGGTGGT GATGATGTTGAGAGTGATGATAATGGTGATGGTGGTGGAATGGTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	2	0.5000	198	c.57 others(209): Show c.5732_*5733insTGGTAGTAGTGGTAGTACTGATGATGGTGGTGAT GACGGTGATGATGTTGAGGGTGATGTAATAGTGACGGTGGTGGAATGGTG GTGATGGTGATTGTGGTAGTAGTGGTAGTGGTAGTAATGACGGTGGTGGC AATGGTGACGGTGGTGATGATGTTGAGAGTGATGATAATGGTGATGGTGG TGGAATGGTGGTGA	SLC22A3	ENSG00000146477.6	transcript	ENST00000275300.3	protein_coding		4212		chr6	TogoVar
SLC2A5_chr1_9030106_9074635	9053312	A A	ACTATATA others(191): Show ACTATATATATTTATATATATTATATATTTATATATTATATATATTTATA TATATTATATATTTATATATTATATATATTTATATATATTATATATTTAT ATATTATATATATTTATATATAATATATATTATATATTTATATATTATAT ATATTTATATATATTATATATTTATATATTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	334	0.0030	198	c.293 others(215): Show c.293+4135_293+4136insAATATATATAAATATATATAATATATAA ATATATAATATATATAAATATATATAATATATAAATATATAATATATATT ATATATAAATATATATAATATATAAATATATAATATATATAAATATATAT AATATATAAATATATAATATATATAAATATATATAATATATAAATATATA ATATATATAAATATATATAG	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(191): Show CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TATACATATATACATATATGTACATATGTACATATATACATATGTACAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0047 a0001c0001t0034 a0001c0001t0047	a0001c0001t0034g0122 a0001c0001t0047g0109 a0001c0001t0034g0122 a0001c0001t0047g0109	2	93	0.0215	198	c.173 others(217): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATATACATATATACATATATGTACATATGTACA TATATACATATGTACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923720	T T	TATGTATA others(191): Show TATGTATATATACATATATGTACATATGTACATATATACATATGTATATA TACATATATGTACATATGTACATATATACATATACATATGTACATATACA CATATACATATGTACATATGTACATATACATATGTATATATACATATATG TACATATATACATATACATATGTATATATACATATATGTACATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0133 a0001c0001t0013g0133	1	176	0.0057	198	c.173 others(217): Show c.173+15823_173+15824insGTATATATACATATATGTACATATGT ACATATATACATATGTATATATACATATATGTACATATGTACATATATAC ATATACATATGTACATATACACATATACATATGTACATATGTACATATAC ATATGTATATATACATATATGTACATATATACATATACATATGTATATAT ACATATATGTACATATATACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923737	A A	ATACATAT others(191): Show ATACATATATGTACATATGTACATATATACATATACATATGTACATATAC ACATATACATATGTATATATACATATATGTACACATGTACATATACATAT GTATATATGTACATATGTACATATATGTATATGTACATATATGTACATAT ATACATATATACATATGTATATATGTACATATGTACATATATGTATATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0174 a0001c0001t0016g0174	1	163	0.0061	198	c.173 others(217): Show c.173+15855_173+15856insGTACATATATACATATACATATGTAC ATATACACATATACATATGTATATATACATATATGTACACATGTACATAT ACATATGTATATATGTACATATGTACATATATGTATATGTACATATATGT ACATATATACATATATACATATGTATATATGTACATATGTACATATATGT ATATGTACATATATGTACATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923758	C C	CATATATG others(191): Show CATATATGTATATATACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATACATATATGTACATATACACATATACATATG TATATATACATATATGTACACATGTACATATACATATGTATATATGTACA TATGTACATATATGTATATATACATATGTATATATACATATATGTACAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0081 a0001c0001t0051g0081	1	180	0.0056	198	c.173 others(217): Show c.173+15863_173+15864insATGTATATATACATATATACATATGT ATATATACATATATGTACATATGTACATATATACATATACATATATGTAC ATATACACATATACATATGTATATATACATATATGTACACATGTACATAT ACATATGTATATATGTACATATGTACATATATGTATATATACATATGTAT ATATACATATATGTACATATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(191): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAG AAGAGGAAGAGGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	219	0.0046	198	c.42 others(209): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCCTCTTCCTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26680283	T T	TTATATAT others(191): Show TTATATATATGTATATATATTCATATATATATGTATATATATTCATATAT ATGTATATATATTCATATATATATATGAATATATATTCATATATATATGT ATATATATTCATATATATATGTATATATATTCATATATATGTATATATAT TCATATATATATATGTATATATATTCATATATATATGTATATATATTCA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0209 a0001c0009t0001g0209	1	355	0.0028	198	c.147 others(215): Show c.1475+771_1475+772insTGAATATATATACATATATATATGAATA TATATACATATATATATATGAATATATATACATATATATGAATATATATA CATATATATATGAATATATATACATATATATATGAATATATATTCATATA TATATATGAATATATATACATATATATGAATATATATACATATATATATG AATATATATACATATATATA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26680306	T T	TATATATA others(191): Show TATATATATGTATATATATTCATATATATATGTATATATATTCATATATA TATGTATATATATTCATATATATATGTATATATATTCATATATATATGTA TATATATTCATATATATATGTATATATATTCATATATATATGTATATATA TTCATATATATATATGTATATATATTCATATATATATGTATATATATTC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0191	1	312	0.0032	198	c.147 others(215): Show c.1475+748_1475+749insGAATATATATACATATATATATGAATAT ATATACATATATATATATGAATATATATACATATATATATGAATATATAT ACATATATATATGAATATATATACATATATATATGAATATATATACATAT ATATATGAATATATATACATATATATATGAATATATATACATATATATAT GAATATATATACATATATAT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC5A12_chr11_26662020_26727060	26680306	T T	TATATATA others(191): Show TATATATATGTATATATATTCATATATATGTATATATATTCATATATATA TATGAATATATATTCATATATATATGTATATATATTCATATATATATGTA TATATATTCATATATATGTATATATATTCATATATATATATGTATATATA TTCATATATATATGTATATATATTCATATATATATATGTATATATATTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	312	0.0032	198	c.147 others(215): Show c.1475+748_1475+749insGAATATATATACATATATATATATGAAT ATATATACATATATATATGAATATATATACATATATATATATGAATATAT ATACATATATATGAATATATATACATATATATATGAATATATATACATAT ATATATGAATATATATTCATATATATATATGAATATATATACATATATAT GAATATATATACATATATAT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC6A13_chr12_215622_267836	239065	T T	TGCTCTAC others(191): Show TGCTCTACCACGTCCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATC CATTCCCACACCATTTCCCTCAGCCACATGCTCTACCACGTCCACCCTGT TCCCTGCCCCTTCAGCCACGTGCTCTACCACGTCCACCCTGTTCCCTGCA CACATGGGTTGTGTTGGATCCATTCCCACACCATTCCCTTCAGCCACCG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	439	0.0023	198	c.479 others(215): Show c.479-1253_479-1056dupCGGTGGCTGAAGGGAATGGTGTGGGAAT GGATCCAACACAACCCATGTGTGCAGGGAACAGGGTGGACGTGGTAGAGC ACGTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCATGTGGCT GAGGGAAATGGTGTGGGAATGGATCCAACACACCCCACGTGTGCAGGGAA CAGGGTGGACGTGGTAGAGC	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	239098	G G	GTGGGGTG others(191): Show GTGGGGTGTGTTGGATCCATTCCCACACCATTCCCCTCAGCCACATGCTC TACCACGTCCACCCTGTTCCCTGCCCCTTCAGCCACCTGCTCTACCACGT CCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCCACACCA TTCCCCTCAGCCACTGGCTCTACCACGTCCACCCTGTTCCCTGCACACA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19088.hp2 NA19070.hp1 NA19088.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0018 a0001c0001 a0008c0018	a0001c0001t0001 a0008c0018t0001 a0001c0001t0001 a0008c0018t0001	a0001c0001t0001g0100 a0008c0018t0001g0099 a0001c0001t0001g0100 a0008c0018t0001g0099	2	390	0.0051	198	c.479 others(215): Show c.479-1089_479-1088insTGTGTGCAGGGAACAGGGTGGACGTGGT AGAGCCAGTGGCTGAGGGGAATGGTGTGGGAATGGATCCAACACACCCCA CGTGTGCAGGGAACAGGGTGGACGTGGTAGAGCAGGTGGCTGAAGGGGCA GGGAACAGGGTGGACGTGGTAGAGCATGTGGCTGAGGGGAATGGTGTGGG AATGGATCCAACACACCCCA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC8A1_chr2_40092270_40457090	40200222	T T	TTATATAT others(191): Show TTATATATATATAAATATATATATATATTTATATATATATATAAATATAT ATATATATTTATATATATATAAATATATATATATATTTATATATATATAA ATATATATATATATTTATATATATATATAAATATATATATATATTTATAT ATATATATAAATATATATATATTTTTTTATATATATATATAAATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0169 a0001c0001t0019g0169	1	140	0.0071	198	c.180 others(219): Show c.1809-21730_1809-21729insTATATATTTATATATATATATAAA AAAATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATAAATATATATATA TATTTATATATATATAAATATATATATATATTTATATATATATATAAATA TATATATATATTTATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SMIM36_chr17_55444856_55516452	55501220	A A	ATTATATT others(191): Show ATTATATTTTATGATATATATTATATATTATATTTTATGATATATAATAT ATTTTATATTTTATGATATATAATATATATTATATTTTATGATATATAAT ATATTTTATATTTTATGATATATAATATATTTTATATTTTATGATATAGA ATATAGTATTATATTTTATATTTTATAATATATAATATAGTATTATATT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18984.hp1 NA19004.hp1 NA18952.hp2 NA18984.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0022 a0001c0001t0003g0210 a0001c0001t0004g0215 a0001c0001t0003g0022 a0001c0001t0003g0210 a0001c0001t0004g0215	3	97	0.0309	198	c.17 others(217): Show c.174+9658_*174+9659insAATATAATACTATATTATATATTATA AAATATAAAATATAATACTATATTCTATATCATAAAATATAAAATATATT ATATATCATAAAATATAAAATATATTATATATCATAAAATATAATATATA TTATATATCATAAAATATAAAATATATTATATATCATAAAATATAATATA TAATATATATCATAAAATATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501220	A A	ATTATATT others(191): Show ATTATATTTTATGATATATATTATATATTATATTTTATGATATATAATAT ATTTTATATTTTATGATATATAATATATATTATATTTTATGATATATAAT ATATTTTATATTTTATGATATATAATATATTTTATATTTTATGATATATA ATATAGTATTATATTTTATATTTTATAATATATAATATAGTATTATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(62): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00735.hp1 HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01891.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02683.hp1 HG02895.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18963.hp1 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19062.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0015	a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0014 others(54): Show a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0230 a0001c0001t0004g0018 a0001c0001t0004g0149 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0209 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0009g0187 a0001c0001t0015g0190	65	159	0.4088	198	c.17 others(217): Show c.174+9658_*174+9659insAATATAATACTATATTATATATTATA AAATATAAAATATAATACTATATTATATATCATAAAATATAAAATATATT ATATATCATAAAATATAAAATATATTATATATCATAAAATATAATATATA TTATATATCATAAAATATAAAATATATTATATATCATAAAATATAATATA TAATATATATCATAAAATATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501220	A A	ATTATATT others(191): Show ATTATATTTTATGATATATATTATATATTATATTTTATGATATATAATAT ATTTTATATTTTATGATATATAATATATATTATATTTTATGATATATAAT ATATTTTATATTTTATGATATATAATATATTTTATATTTTATGATATATA ATATAGTATTATATTTTATATTTTATGATATATAATATAGTATTATATT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	95	0.0105	198	c.17 others(217): Show c.174+9658_*174+9659insAATATAATACTATATTATATATCATA AAATATAAAATATAATACTATATTATATATCATAAAATATAAAATATATT ATATATCATAAAATATAAAATATATTATATATCATAAAATATAATATATA TTATATATCATAAAATATAAAATATATTATATATCATAAAATATAATATA TAATATATATCATAAAATATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNED1_chr2_240993618_241100568	241052695	G G	GCCAAGCA others(191): Show GCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGAGGGTCAGG GGGGTCAAGCAGGGTACATGGGACACCAGTGCGAGGCAGGTGAGATGGCC GGGGGGCTGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGG CCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	335	0.0030	198	c.208 others(215): Show c.2083+227_2083+228insCCAAGCAGGGTACATGGGACACCGGTGT CAGGCAGGTGAGAGGGTCAGGGGGGTCAAGCAGGGTACATGGGACACCAG TGCGAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATGGGATACC AGTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATAC CAGTGCCAGGCAGGTGAGAT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(191): Show TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0267 a0001c0003t0003g0267	1	241	0.0041	198	c.12+ others(213): Show c.12+4102_12+4103insGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(191): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19011.hp1 NA18987.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0054 a0002c0002t0002g0004 a0002c0002t0002g0054	2	242	0.0083	198	c.12+ others(213): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(191): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATAAATATATATATATTT ATATATATAAATATATATATATAAATATATATATATTTATATATATAAAT ATATATATATAAATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19056.hp1 HG00423.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0176 a0001c0002t0001g0171 a0001c0002t0001g0176	2	86	0.0233	198	c.159 others(215): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATAAATA TATATATATTTATATATATAAATATATATATATAAATATATATATATTTA TATATATAAATATATATATATAAATATATATATATTTATATATATAAATA TATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(191): Show TTATATTTATATAATATATATTTATATAATATATATTTATATTTATATAA TATATAATATATATTTATATTTATATAATATATAAGATATATTTATATTT ATATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTT ATATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0072 a0001c0001t0090g0072	1	94	0.0106	198	c.481 others(215): Show c.481+8703_481+8704insTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATATTATATATTATATAAATATAAATATATATTATATAA ATATATATTATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA18954.hp1 HG00423.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0072 a0001c0001t0009g0031 a0001c0001t0002g0072 a0001c0001t0009g0031	2	19	0.1053	198	c.54 others(209): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 NA20129.hp1 HG01884.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	19	0.1053	198	c.54 others(209): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0031	1	18	0.0556	198	c.54 others(209): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	198	c.54 others(209): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	18	0.0556	198	c.54 others(209): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(191): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCTCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	18	0.0556	198	c.54 others(209): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPG7_chr16_89503403_89562766	89541006	G G	GACTAGAA others(191): Show GACTAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTGTACGCAGA AATAGAAGAGCTGAAACTGGTGTATCCTTATCACGGCGTTCTACACAGCG ACTAGAAGAGCTGAAACTGGTGTATCCTTATCACAGTGTTCTACGCAGAA ATAGAAGAGCTGAAACTGGTGTATCCTTATCACGGCGTTCTACACAGCA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	163	0.0061	198	c.132 others(217): Show c.1325-3557_1325-3556insCGTTCTACACAGCGACTAGAAGAGCT GAAACTGGTGTATCCTTATCACAGTGTTCTACGCAGAAATAGAAGAGCTG AAACTGGTGTATCCTTATCACGGCGTTCTACACAGCAACTAGAAGAGCTG AAACTGGTGTATCCTTATCACGGTGTTGTACGCAGAAATAGAAGAGCTGA AACTGGTGTATCCTTATCACGG	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852561	T T	TCCCTCTC others(191): Show TCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02572.hp1 HG04199.hp1 others(2): Show HG01256.hp1 HG02572.hp1 HG04199.hp1 NA18945.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0062 a0001c0001t0001g0096 a0001c0001t0001g0130 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0096 a0001c0001t0001g0130 a0001c0001t0001g0193 a0001c0001t0015g0125	5	292	0.0171	198	c.646 others(215): Show c.646-1724_646-1723insCCTCTCACCCCCCGGATCCCATGGCCCG TCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPTSSA_chr14_34427788_34467240	34443208	T T	TGTGTGTG others(191): Show TGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTTTCCTCTCATTACCCAG CTGGAGTGCAATGGCAGTCTTAGCTCACTGCAACCTCTGCCTCCCAGGTT CAAGCGATTCTCCTGCTTCTAGGGGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTTTTTTTTGAGATTGAGTTTTCCTCTAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	340	0.0029	198	c.113 others(215): Show c.113-7905_113-7904insCCCTAGAGGAAAACTCAATCTCAAAAAA AACACACACACACACACACACACACACACACACACACACACACACACCCC TAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCT AAGACTGCCATTGCACTCCAGCTGGGTAATGAGAGGAAAACTCCATCTCA AAACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRXN1_chr20_641615_658200	642043	G G	GGGGAGGC others(191): Show GGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	391	0.0026	198	c.66 others(209): Show c.6670_*6671insTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCTCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4571		chr20	TogoVar
STK33_chr11_8386870_8599228	8571897	A A	AAAAAAAT others(191): Show AAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAA AATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTT AAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAA ATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp2 others(13): Show HG00323.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01258.hp1 HG02257.hp2 HG02738.hp1 HG03490.hp1 HG03492.hp2 HG04184.hp1 NA18961.hp1 NA18963.hp2 NA19074.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0023 a0002c0004t0003	a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0108 others(13): Show a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0002t0001g0197 a0001c0002t0001g0286 a0002c0003t0001g0285 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0300 a0002c0003t0001g0306 a0002c0003t0023g0325 a0002c0004t0003g0067 a0002c0004t0003g0068 a0002c0004t0003g0097	16	108	0.1481	198	c.-46 others(219): Show c.-466+22185_-466+22186insAAAATTAAAATTTAATTTTAATTT AAATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAA AATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTA AATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAA ATTTAATTTTAATTTAAATTTTTT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8572029	T T	TAAAAAAT others(191): Show TAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAA AATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTT AAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAA ATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATTTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01081.hp1 others(9): Show HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01975.hp2 HG02145.hp2 HG02451.hp1 HG03139.hp2 HG03490.hp2 HG03669.hp2 HG04204.hp2 NA18974.hp2 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0006 a0001c0002 a0002c0003 a0004c0006	a0001c0002t0001 a0001c0002t0005 a0002c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0005 a0002c0003t0001 a0004c0006t0001	a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0207 others(9): Show a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0207 a0001c0002t0001g0219 a0001c0002t0001g0323 a0001c0002t0005g0175 a0002c0003t0001g0174 a0002c0003t0001g0176 a0002c0003t0001g0215 a0002c0003t0001g0216 a0004c0006t0001g0221 a0004c0006t0001g0222	12	233	0.0515	198	c.-46 others(219): Show c.-466+22053_-466+22054insTAAATTAAAATTTAATTTTAATTT AAATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAA AATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTA AATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAA ATTTAATTTTAATTTAAATTTTTT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
SYK_chr9_90796819_90903549	90884590	T T	TGTGTACA others(191): Show TGTGTACATGTACATACATACACATACACATGTGTGTACATGTACATACA TACACATACACATGTGTACATGTACATATATACACATACACATGTGTACA TGTACATATATACACATGTGTACATGTACATATATACACATACACATGTG TACATGTACATATATACACATGTGTACATGTACATATATACACATACAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0284 a0001c0003t0011g0284	1	316	0.0032	198	c.158 others(217): Show c.1582-3159_1582-3158insGTGTACATGTACATACATACACATAC ACATGTGTGTACATGTACATACATACACATACACATGTGTACATGTACAT ATATACACATACACATGTGTACATGTACATATATACACATGTGTACATGT ACATATATACACATACACATGTGTACATGTACATATATACACATGTGTAC ATGTACATATATACACATACAC	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATGTGTA others(191): Show TATGTGTATATACATATATACATATACACATATGTGTATATATACATATA TACATATACACCTATGTGTATATATAACACATATATACACCTATGTGTAT ATATAACACATATATACACCTATGTGTATATATAACACATATATACACCT ATGTGTATATATACATATATACATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp2 HG02717.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0043 a0001c0001t0006 a0001c0001t0043	a0001c0001t0006g0082 a0001c0001t0043g0218 a0001c0001t0006g0082 a0001c0001t0043g0218	2	31	0.0645	198	c.158 others(217): Show c.1582-2863_1582-2862insGTGTATATACATATATACATATACAC ATATGTGTATATATACATATATACATATACACCTATGTGTATATATAACA CATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTAT ATATAACACATATATACACCTATGTGTATATATACATATATACATATACA CATATGTGTATATATAACACAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYNPR_chr3_63273308_63621924	63313914	T T	TATATATA others(191): Show TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	221	0.0045	198	c.84+ others(215): Show c.84+35196_84+35197insCCATATATATATATATCCATATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT CCATATATATATATATCCATATATATATATATCCATATATATATATCCAT ATATATATATATCCATATATATATATATCCATATATATATATATCCATAT ATATATATCCATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(191): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01074.hp1 others(7): Show HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01515.hp2 HG01517.hp1 HG02280.hp2 HG02970.hp1 HG03239.hp1 HG03540.hp2 HG04199.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0002c0003t0002 a0003c0004t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0052 others(7): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0069 a0001c0001t0012g0113 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0079 a0003c0004t0001g0002	10	120	0.0833	198	c.-23 others(217): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK1_chr17_29385363_29556903	29397672	T T	TATACATG others(191): Show TATACATGTATACATGTATATTCATGTATGATACATGTATACATGTATAC ATGTATATTCATGTATGATACATGTATACATGTATACATGTATATTCATG TATGATACATGTATACATGTATATTCATGTATGATACATGTATACATGTA TACATGTATATTCATGTATGATACATGTATACATGTATATTCATGTATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0074 a0001c0001t0054g0074	1	94	0.0106	198	c.-95 others(215): Show c.-95+6677_-95+6678insATACATGTATACATGTATACATGTATAT TCATGTATGATACATGTATACATGTATACATGTATATTCATGTATGATAC ATGTATACATGTATATTCATGTATGATACATGTATACATGTATACATGTA TATTCATGTATGATACATGTATACATGTATATTCATGTATGATACATGTA TACATGTATATTCATGTATG	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAS2R46_chr12_11056365_11067294	11066591	T T	TTACGTAT others(191): Show TTACGTATTTTTTAAATTAACTTTTCTTTTTTTGTGTTTTTTTATTTTTT TTATTTTTTATTTCTTTATTATTATTATACTTTAAGTTTTAGGGTTACAT GTGCACAATGTGCCGGTTAGTTACATATGTATACATGTGCCATGCTGGTG TGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp2 HG01993.hp2 HG02056.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG04199.hp2 NA18522.hp2 NA18940.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18995.hp1 NA19009.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19068.hp2 NA19078.hp2 NA19083.hp1 NA19087.hp1 NA20752.hp2	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0002 a0006c0009 a0010c0010 a0002c0002 a0006c0009 a0010c0010	a0002c0002t0001 a0006c0009t0001 a0010c0010t0001 a0002c0002t0001 a0006c0009t0001 a0010c0010t0001	a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000	66	247	0.2672	198	c.-42 others(209): Show c.-4298_-4297insGCATTAGGAGATATACCTAATGCTAAATGACGAG TTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAAC CGGCACATTGTGCACATGTAACCCTAAAACTTAAAGTATAATAATAATAA AGAAATAAAAAATAAAAAAAATAAAAAAACACAAAAAAAGAAAAGTTAAT TTAAAAAATACGTA	TAS2R46	ENSG00000226761.3	transcript	ENST00000533467.1	protein_coding		4298		chr12	TogoVar
TCF3_chr19_1604292_1657615	1628330	A A	AGGCGGGA others(191): Show AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAG CAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	342	0.0029	198	c.299 others(213): Show c.299-905_299-904insCCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629113	G G	GGCGGGAA others(191): Show GGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGTGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0131 a0001c0005t0002g0131	1	346	0.0029	198	c.299 others(215): Show c.299-1688_299-1687insTCCACCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAG CTCTGCTGTCCCCTTCCCGC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272656	C C	CCATGACC others(191): Show CCATGACCAACCACCATCTAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCCGTGACCGACCGCCATCCACAGTCACCACACATCAGAC CCCCGTGACCGACCGCCATCCACAGTCACCACACATCAGACCCCCGTGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0372 a0001c0001t0002g0372	1	385	0.0026	198	c.228 others(215): Show c.2287-377_2287-376insTCACGGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGGTCACGGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGGTCACGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTAGATGGTGGTTGGTCATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACATCAGA others(191): Show ACATCAGACCCCACGACCACCATCCACAGTCACATCAGACCCCACGACCG CCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	371	0.0027	198	c.228 others(217): Show c.2287-1123_2287-1122insACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGG ATGGTGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACCGCCA others(191): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGT CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	336	0.0030	198	c.228 others(217): Show c.2287-1216_2287-1215insTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(191): Show GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCTACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	276	0.0036	198	c.228 others(217): Show c.2287-1361_2287-1360insTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THNSL2_chr2_88165346_88191627	88181221	C C	CCTCTCTC others(191): Show CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTC CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0032 a0001c0003t0008g0032	1	47	0.0213	198	c.803 others(215): Show c.803-1471_803-1470insTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTC TCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTC TCCTCTCTCCTCTCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TLCD3A_chr17_727596_747968	727842	A A	ACTCCGGG others(191): Show ACTCCGGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGA TAATAGGCAGGAGCCAACTCCGGGGCTCAAGTGATCCTCCCGCCTCGGCC TCCTAAAGTGCCGGGATAATAGGCAGGAGCCACCTCCTGGGCTCAAGTGA TCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATAGGCAGGAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	324	0.0031	198	c.-48 others(209): Show c.-4806_-4805insCTCCGGGGCTCAAGTGATCCTCCCGCCTCGGCCT CCTAAAGTGCCGGGATAATAGGCAGGAGCCAACTCCGGGGCTCAAGTGAT CCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATAGGCAGGAGCCACCT CCTGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAA TAGGCAGGAGCCAC	TLCD3A	ENSG00000167695.15	transcript	ENST00000308278.13	protein_coding		4753		chr17	TogoVar

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