Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPTSSA_chr14_34427788_34467240	34443514	T T	TGTGTGTG others(229): Show TGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTTTCCTC TCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACCTC TGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGCT TTGAGATGGAGTTTTCCTCTCATTACCCAGCTGGAGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	344	0.0029	236	c.113 others(253): Show c.113-8211_113-8210insCCTCCAGCTGGGTAATGAGAGGAAAACT CCATCTCAAAGCACACACAAACACACACACACACACACACACACACACAC ACACACACACACACACACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACC TGGGAGGCAGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCT GGGTAATGAGAGGAAACTCCATCTCAAAACACACACAAACACACACACAC ACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
STRBP_chr9_123116617_123273586	123156434	G G	GATTCTCA others(229): Show GATTCTCAAACTTTTTAGCTCAGGAGTACTTTACACTCTTAAAAAATTAT TAAGCACCCGAAGTGCTATGCTTTGTGGGTAATATCTGTCAATATTGAGC ATATTAAAAATAAAACAAAACAATTTTAAACACAAGGATATAGAAAATAA AACATTCCATTAGCCATCAGAGCAACGATCTCATCACATGTCACATGTAG CCTCTGGAAAACTATACACTTAGGAAAGAAAGAGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0141 a0001c0001t0007g0141	1	236	0.0042	236	c.104 others(255): Show c.1045+1342_1045+1577dupTCTCTCTTTCTTTCCTAAGTGTATAG TTTTCCAGAGGCTACATGTGACATGTGATGAGATCGTTGCTCTGATGGCT AATGGAATGTTTTATTTTCTATATCCTTGTGTTTAAAATTGTTTTGTTTT ATTTTTAATATGCTCAATATTGACAGATATTACCCACAAAGCATAGCACT TCGGGTGCTTAATAATTTTTTAAGAGTGTAAAGTACTCCTGAGCTAAAAA GTTTGAGAAT	STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	11/18			chr9	TogoVar
STX12_chr1_27768219_27829443	27792184	A A	ATATATGT others(229): Show ATATATGTATATACATATATATGTATCTATATATATGTATATACATATAT ATGTATCTATATATATGTATATACATATATATGTATCTATATATATGTAT ATACATATATATGTATCTATATATATGTATATACATATATATGTATCTAT ATATATGTATATACATATATATGTATCTATATATATGTATATACATATAT ATGTATCTATATATATGTATATACATATATATGTATC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065	3	228	0.0132	236	c.189 others(253): Show c.189-1348_189-1347insATATGTATATACATATATATGTATCTAT ATATATGTATATACATATATATGTATCTATATATATGTATATACATATAT ATGTATCTATATATATGTATATACATATATATGTATCTATATATATGTAT ATACATATATATGTATCTATATATATGTATATACATATATATGTATCTAT ATATATGTATATACATATATATGTATCTATATATATGTATATACATATAT ATGTATCT	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771858	C C	CTATATAT others(229): Show CTATATATCATATATAAATACATATGATATCTATATATCATATATAAATA CATATGATATCTATATATCATATATAAATACATATGATATCTATATATCA TATATAAATACATATGATATCTATATATCATATATAAATACATATGATAT CTATATATCATATATAAATACATATGATATCTATATATCATATATAAATA CATATGATATCTATATATCATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	334	0.0060	236	c.439 others(251): Show c.439-804_439-803insATATCATATATAAATACATATGATATCTAT ATATCATATATAAATACATATGATATCTATATATCATATATAAATACATA TGATATCTATATATCATATATAAATACATATGATATCTATATATCATATA TAAATACATATGATATCTATATATCATATATAAATACATATGATATCTAT ATATCATATATAAATACATATGATATCTATATATCATATATAAATACATA TGATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108772072	C C	CTATATAT others(229): Show CTATATATCATATATAAATACATATGATATCTATATATCATATATAAATA CATATGATATCTATATATCATATATAAATACATATGATATCTATATATCA TATATAAATACATATGATATCTATATATCATATATAAATACATATGATAT CTATATATCATATATAAATACATATGATATCTATATATCATATATAAATA CATATGATATCTATATATCATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	334	0.0030	236	c.439 others(251): Show c.439-590_439-589insATATCATATATAAATACATATGATATCTAT ATATCATATATAAATACATATGATATCTATATATCATATATAAATACATA TGATATCTATATATCATATATAAATACATATGATATCTATATATCATATA TAAATACATATGATATCTATATATCATATATAAATACATATGATATCTAT ATATCATATATAAATACATATGATATCTATATATCATATATAAATACATA TGATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(229): Show ATATATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATATATTATATATTATATAACATATATTATATATAATATATATTAT ATATTATATAACTATATATTATATATAATATATATTATATATTATATAAC TATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATGTATATTATATATTATATAACTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0093	1	268	0.0037	236	c.71 others(247): Show c.7103_*7104insTATATATATAATATATATATTATATATTATATAA CATATATTATATATAATATATATATTATATATTATATAACATATATTATA TATAATATATATTATATATTATATAACTATATATTATATATAATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATGTATATTATATATTATATAACTATAT AT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(229): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATATTATATATGATTAT AAAATATAATTATATATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	268	0.0037	236	c.75 others(247): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT ATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT AT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SYTL3_chr6_158645054_158769871	158701191	G G	GATGAAGG others(229): Show GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGA GCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTG GGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	292	0.0034	236	c.395 others(253): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCA TGGAGGAGTGTGAGCTGGGGTGTACATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701247	A A	AAGGAGTG others(229): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCG TGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG GCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	292	0.0034	236	c.395 others(253): Show c.395-5954_395-5953insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTA GGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTA GATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF2_chr8_119725774_119837841	119788538	T T	TAAAATAT others(229): Show TAAAATATTACACAACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp1 others(67): Show HG00099.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01255.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02083.hp1 HG02165.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp1 HG03225.hp1 HG03239.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp2 NA18612.hp1 NA18941.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18967.hp2 NA18969.hp2 NA18974.hp2 NA18981.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0006 a0001c0001t0001g0176 a0001c0001t0001g0177 others(66): Show a0001c0001t0001g0006 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0016t0001g0202	70	322	0.2174	236	c.168 others(251): Show c.1684-92_1684-91insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTTGTGTAA TATTTT	TAF2	ENSG00000064313.13	transcript	ENST00000378164.7	protein_coding	13/25			chr8	TogoVar
TAPT1_chr4_16155505_16231471	16194860	T T	TCCTCGTC others(229): Show TCCTCGTCCTCCTCCTCCTCCTCCTCCGTCTTGATTTTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0068 a0001c0002t0005g0068	1	382	0.0026	236	c.450 others(253): Show c.450-3338_450-3337insGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAAAATCAAGACGGAGGAGGAGGAGGAGGA GGACGAGG	TAPT1	ENSG00000169762.17	transcript	ENST00000405303.7	protein_coding	3/13			chr4	TogoVar
TCF3_chr19_1604292_1657615	1627808	G G	GGGGGTGA others(229): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGGAA GGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAAC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0256 a0001c0004t0008g0256	1	352	0.0028	236	c.299 others(251): Show c.299-383_299-382insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGC TGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627842	A A	AGGGGGTG others(229): Show AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0293 a0001c0005t0017g0293	1	352	0.0028	236	c.299 others(251): Show c.299-417_299-416insGTGAGCTCTGCTGTCCCCTTCCCACCTCAC CCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628009	G G	GCTCACAG others(229): Show GCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGATGAGGCGGGAAGGGGACAGCAGAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0034 a0001c0005t0025g0034	1	352	0.0028	236	c.299 others(251): Show c.299-584_299-583insTTCTGCTGTCCCCTTCCCGCCTCATCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCC TGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628058	A A	AGGCGGGA others(229): Show AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGT GAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0013 a0004c0014t0013	a0004c0014t0013g0288 a0004c0014t0013g0288	1	352	0.0028	236	c.299 others(251): Show c.299-633_299-632insCCACCCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAG TTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628324	G G	GGGGTGAG others(229): Show GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAAG GGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0054 a0002c0001t0007g0054	1	352	0.0028	236	c.299 others(251): Show c.299-899_299-898insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCTTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628493	A A	ACGGGGGT others(229): Show ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0054 a0002c0001t0054	a0002c0001t0054g0157 a0002c0001t0054g0157	1	352	0.0028	236	c.299 others(253): Show c.299-1068_299-1067insAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCC CACCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628596	A A	ATGGGGGG others(229): Show ATGGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGC GGGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAAGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0161 a0001c0002t0032g0161	1	352	0.0028	236	c.299 others(253): Show c.299-1171_299-1170insAGTTCTGCTGTCCCTTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGT CCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628985	G G	GAAGGGGA others(229): Show GAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGG GAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCGCAGGGGGTGAGGCGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0293 a0001c0005t0017g0293	1	352	0.0028	236	c.299 others(253): Show c.299-1560_299-1559insTCCGCCTCACCCCCTGCGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCATGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTGCT GTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCT GTCCCCTT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGTGGGG others(229): Show GGGTGGGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCA CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0020 a0006c0012t0020	a0006c0012t0020g0263 a0006c0012t0020g0263	1	352	0.0028	236	c.299 others(253): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC CCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTC TGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCC GCCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGTGGGA others(229): Show AGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAG CAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGT GGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGG GATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGTGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0088 a0002c0001t0088	a0002c0001t0088g0292 a0002c0001t0088g0292	1	352	0.0028	236	c.299 others(253): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TGTATACA others(229): Show TGTATACATATATATACACACACATATGTATACATATATATACACACATA TGTATACATATACACACACATGTATACATATATACACACATGTATACATA TATACACACATGTATACATATATACACACATGTATACATATATACACACA TGTATACATATATACACACACATGTATACATATATACACACACACATGTA TACATATATACACACACATGTATACATATATACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG02886.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0229 a0001c0014t0001g0230 a0001c0014t0001g0229 a0001c0014t0001g0230	2	466	0.0043	236	c.122 others(253): Show c.1222+838_1222+839insGTATACATATATATACACACACATATGT ATACATATATATACACACATATGTATACATATACACACACATGTATACAT ATATACACACATGTATACATATATACACACATGTATACATATATACACAC ATGTATACATATATACACACATGTATACATATATACACACACATGTATAC ATATATACACACACACATGTATACATATATACACACACATGTATACATAT ATACACAC	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8			chr22	TogoVar
TEX19_chr17_82354247_82368775	82359447	G G	GTTTCCCT others(229): Show GTTTCCCTCAGTTTCCCTCAGTTTCCTTCAAGTTTCCCTCAGGTTCCCTC AGTTTCCCTCAAGTTCCCTCAGGTTCCCTCAAGTTTCCCTCAGGTTCCCC CAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCC CCAGTTTCCCTCAAGTTTCCCTCAGGTTCCTCCAGCTTCCCTCAGGTTCC CTCAGTTTCCCTCAAGTTTCCCTCAGTTTCCCCCAGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01256.hp1 HG01257.hp1 others(2): Show HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 others(2): Show a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039	5	380	0.0132	236	c.-27 others(253): Show c.-272+164_-272+165insTCCCTCAGTTTCCCTCAGTTTCCTTCAA GTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTCCCTCAGGTTCCCTCA AGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTC AAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGGTTCCT CCAGCTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGTTTCC CCCAGTTT	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
THEG_chr19_356747_381026	376905	G G	GCCCCCAC others(229): Show GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCTACCCAGCCCCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0176 a0001c0001t0054g0176	1	370	0.0027	236	c.-93 others(245): Show c.-936_-935insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGGGGCTGGGTAGGGCACAGAGGGGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		880		chr19	TogoVar
THEG_chr19_356747_381026	376976	C C	CCCCGTGC others(229): Show CCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCC CCCCCGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0121 a0001c0001t0041g0121	1	370	0.0027	236	c.-10 others(247): Show c.-1007_-1006insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACACAG GGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACGG GGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACG GG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		951		chr19	TogoVar
THEG_chr19_356747_381026	377345	G G	GCCCCACC others(229): Show GCCCCACCCAGCCTCTCCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC CCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0001 a0003c0004t0004g0001	1	370	0.0027	236	c.-13 others(247): Show c.-1376_-1375insGCACACAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG GGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGGAGAGGCTGGGTGGGGCACACGGGGGGAGAGGCTGGGTGG GG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1320		chr19	TogoVar
TIMM22_chr17_992129_1008671	993432	A A	ATAATCCA others(229): Show ATAATCCACCCTCACATAATCCACCCCTCACATAATCCACCTCACATAAT CCACCCACACTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCAC CCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACA TAATCCACCTCACATAATCCACCCTCACATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp1 others(152): Show HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0002t0002 a0002c0004t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0085 a0001c0001t0003g0102 a0001c0001t0004g0001 a0001c0001t0004g0034 a0001c0001t0004g0040 a0001c0001t0006g0043 a0001c0001t0006g0056 a0001c0001t0010g0004 a0001c0001t0010g0018 a0001c0001t0010g0019 a0001c0001t0010g0032 a0001c0001t0012g0002 a0001c0001t0012g0024 a0001c0001t0018g0042 a0001c0001t0019g0068 a0001c0001t0020g0035 a0001c0001t0020g0082 a0001c0001t0031g0002 a0001c0001t0032g0076 a0001c0001t0033g0019 a0001c0001t0035g0035 a0001c0001t0036g0025 a0001c0002t0002g0033 a0002c0004t0003g0077	155	439	0.3531	236	c.-37 others(247): Show c.-3711_-3710insTAATCCACCCTCACATAATCCACCCCTCACATAA TCCACCTCACATAATCCACCCACACTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCCTC ACATAATCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACA TAATCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCC AC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3696		chr17	TogoVar
TIMM22_chr17_992129_1008671	993432	A A	ATAATCCA others(229): Show ATAATCCACCCTCACATAATCCACCCCTCACATAATCCACCTCACATAAT CCACCCACACTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCAC CCTCACATAATCCACCTCACATAATCCACCTCGCATAATCCACCCTCACA TAATCCACCTCACATAATCCACCCTCACATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	439	0.0023	236	c.-37 others(247): Show c.-3711_-3710insTAATCCACCCTCACATAATCCACCCCTCACATAA TCCACCTCACATAATCCACCCACACTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCCTC ACATAATCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCGCA TAATCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCC AC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3696		chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747633	G G	GCTGGGGT others(229): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	314	0.0032	236	c.189 others(251): Show c.189-680_189-679insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747693	G G	GCACTGGG others(229): Show GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	314	0.0032	236	c.189 others(251): Show c.189-632_189-631insACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128708305	A A	AGTGCCCA others(229): Show AGTGCCCAAAGTCAGAGAGCAGGAGGGCCTTCATTCATAGACCCACCATC TTCCACACCAGCGTTCAGAGTCAGTGAGGAGAAGGGTGTTCATTCATAGA TCCACCGTCATCCACACCAGTGCCCAAAGTCAGAGAGCAGGAGGGCCTTC ATTCATAGACCCACCATCTTCCACACCAGCGTTCAGAGTCAGTGAGGAGA AGGGTGTTCATTCATAGATCCACCGTCATCCACACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0030 a0030	a0030c0076 a0030c0076	a0030c0076t0002 a0030c0076t0002	a0030c0076t0002g0020 a0030c0076t0002g0020	1	170	0.0059	236	c.20 others(247): Show c.2010_*2011insGTGCCCAAAGTCAGAGAGCAGGAGGGCCTTCATT CATAGACCCACCATCTTCCACACCAGCGTTCAGAGTCAGTGAGGAGAAGG GTGTTCATTCATAGATCCACCGTCATCCACACCAGTGCCCAAAGTCAGAG AGCAGGAGGGCCTTCATTCATAGACCCACCATCTTCCACACCAGCGTTCA GAGTCAGTGAGGAGAAGGGTGTTCATTCATAGATCCACCGTCATCCACAC CG	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding		395		chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128708521	G G	GACTCACC others(229): Show GACTCACCATCATCCACACCAGTGCTCAAAGTCAGCAAGCAGGAGGGCGT TCATTCATAGACTCACCATCATCCACACCAGTGCCCAAAGTCAGAGAGCA GGAGGGCCTTCATTCATAGACCCACCATCTTCCACACCAGCGTTCAGAGT CAGTGAGGAGAAGGGTGTTCATTCATAGATCCACCGTCATCCACACCGGT GCTCAAACTCAGCAAGCAGGAGGGCGTTCATTCATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0053 a0006c0053	a0006c0053t0016 a0006c0053t0016	a0006c0053t0016g0080 a0006c0053t0016g0080	1	170	0.0059	236	c.22 others(247): Show c.2226_*2227insACTCACCATCATCCACACCAGTGCTCAAAGTCAG CAAGCAGGAGGGCGTTCATTCATAGACTCACCATCATCCACACCAGTGCC CAAAGTCAGAGAGCAGGAGGGCCTTCATTCATAGACCCACCATCTTCCAC ACCAGCGTTCAGAGTCAGTGAGGAGAAGGGTGTTCATTCATAGATCCACC GTCATCCACACCGGTGCTCAAACTCAGCAAGCAGGAGGGCGTTCATTCAT AC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding		611		chr12	TogoVar
TMEM242_chr6_157284025_157328519	157311544	G G	GCCCCAGT others(229): Show GCCCCAGTCTGCACTCAAGCAGCCTCATCAGAGTGTCGCAGTGCGCTCAC CTAGCCTCATCATAGTGCCCCAGTGTCCGCTCACCTAGCCTCATCATACT GTCTCAGTGTGAGCTCACCTAGCCTCATCATAGTGTCCCAGTCTGCGCTC ACCTAGCCTCATCATAGTGCCCCAGGGTGCACTCACCTAGCCTCATCATA GTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0173 a0002c0002t0005g0173	1	344	0.0029	236	c.327 others(253): Show c.327+7237_327+7238insTACTATGATGAGGCCAGGTGAGTGCACA CTGGGACACTATGATGAGGCTAGGTGAGTGCACCCTGGGGCACTATGATG AGGCTAGGTGAGCGCAGACTGGGACACTATGATGAGGCTAGGTGAGCTCA CACTGAGACAGTATGATGAGGCTAGGTGAGCGGACACTGGGGCACTATGA TGAGGCTAGGTGAGCGCACTGCGACACTCTGATGAGGCTGCTTGAGTGCA GACTGGGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311760	A A	ACTCACCT others(229): Show ACTCACCTAGCCTCAACATAGTGCCCCAGTGTGCGTTGACCTGGCCTCAT TATAGTGCCCCAGTGTGCATTTACCTAGCCTCATCATAGTGCCCCAGTGT GCGCTCACCTAGCCTCATCAGTGTCACAGTGTGCACTCACCTAGCGTCAT CATAGTGCCCCAGTGTGCACTCACCGAGCCCCATCATAGTGTCCGAATGT GCGCTCACCCAGCCTGATCATACTGTCCGACTGTGCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp1 HG02615.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0165 a0001c0001t0005g0166	2	344	0.0058	236	c.327 others(253): Show c.327+7021_327+7022insCGCACAGTCGGACAGTATGATCAGGCTG GGTGAGCGCACATTCGGACACTATGATGGGGCTCGGTGAGTGCACACTGG GGCACTATGATGACGCTAGGTGAGTGCACACTGTGACACTGATGAGGCTA GGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTAAATGCACACTGG GGCACTATAATGAGGCCAGGTCAACGCACACTGGGGCACTATGTTGAGGC TAGGTGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311760	A A	ACTCACCT others(229): Show ACTCACCTAGCCTCAACATAGTGCCCCAGTGTGCGTTGACCTGGCCTCAT TATAGTGCCCCAGTGTGCATTTACCTAGCCTCATCATAGTGCCCCAGTGT GCGCTCACCTAGCCTCATCAGTGTCACAGTGTGCACTCACCTAGCGTCAT CATAGTGCCCCAGTGTGCACTCACCGAGCCTCATCATAGTGCCCCACTGT GCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	344	0.0029	236	c.327 others(253): Show c.327+7021_327+7022insCGCACACTGGGACACTATGATGAGGCTA GGTGAGTGCACAGTGGGGCACTATGATGAGGCTCGGTGAGTGCACACTGG GGCACTATGATGACGCTAGGTGAGTGCACACTGTGACACTGATGAGGCTA GGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTAAATGCACACTGG GGCACTATAATGAGGCCAGGTCAACGCACACTGGGGCACTATGTTGAGGC TAGGTGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312586	C C	CATAGTAT others(229): Show CATAGTATCCCAGTGTGCACTCACCTAGCCTCATCAGTGTCCCAGTGTGC GCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGCTCACCCGGCCTCAT CATAGTGCCCCAGTGTGCACTCACCAGGCCTCATCATAGCGTTCCAGTGT GCGCTCACGTAGCCTCATCATAGTGCCCCAGTGTACACTCACCCGGCCTC ATCATAGTTTCCCAGTGTGCGCTCACCCGGCCTCATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp2 others(17): Show HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00735.hp2 HG01074.hp1 HG01123.hp2 HG01433.hp2 HG02027.hp2 HG02040.hp2 HG02083.hp2 HG02723.hp2 HG02738.hp1 HG03704.hp2 HG04115.hp2 NA18965.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19077.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0023	a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0120 others(17): Show a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0003g0162 a0001c0001t0004g0152 a0001c0001t0016g0146 a0001c0001t0023g0141	20	344	0.0581	236	c.327 others(253): Show c.327+6195_327+6196insCATGAGGCCGGGTGAGCGCACACTGGGA AACTATGATGAGGCCGGGTGAGTGTACACTGGGGCACTATGATGAGGCTA CGTGAGCGCACACTGGAACGCTATGATGAGGCCTGGTGAGTGCACACTGG GGCACTATGATGAGGCCGGGTGAGCGCACACTGGGACAGTATGATGAGGC TAGGTGAGCGCACACTGGGACACTGATGAGGCTAGGTGAGTGCACACTGG GATACTAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312586	C C	CATAGTAT others(229): Show CATAGTATCCCAGTGTGCACTCACCTAGCCTCATCAGTGTCCCAGTGTGC GCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGCTCACCCGGCCTCAT CATAGTGCCCCAGTGTGCACTCACCAGGCCTCATCATAGCGTTCCAGTGT GCGCTCACGTAGCCTCATCATAGTGCCCCAGTGTACACTCACGCGGCCTC ATCATAGTTTCCCAGTGTGCGCTCACCCGGCCTCATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	344	0.0029	236	c.327 others(253): Show c.327+6195_327+6196insCATGAGGCCGGGTGAGCGCACACTGGGA AACTATGATGAGGCCGCGTGAGTGTACACTGGGGCACTATGATGAGGCTA CGTGAGCGCACACTGGAACGCTATGATGAGGCCTGGTGAGTGCACACTGG GGCACTATGATGAGGCCGGGTGAGCGCACACTGGGACAGTATGATGAGGC TAGGTGAGCGCACACTGGGACACTGATGAGGCTAGGTGAGTGCACACTGG GATACTAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312586	C C	CATAGTAT others(229): Show CATAGTATCCCAGTGTGCACTCACCTAGCCTCATCAGTGTCCCAGTGTGC GCTCACCTAGCCTCATCATACTGTCCCAGTGTGCGCTCACCCGGCGTCAT CATAGTGCCCCAGTGTGCACTCACCAGGCCTCATCATAGCGTTCCAGTGT GCGCTCACGTAGCCTCATCATAGTGCCCCAGTGTACACTCACCCGGCCTC ATCATAGTTTCCCAGTGTGCGCTCACCCGGCCTCATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG01243.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	344	0.0058	236	c.327 others(253): Show c.327+6195_327+6196insCATGAGGCCGGGTGAGCGCACACTGGGA AACTATGATGAGGCCGGGTGAGTGTACACTGGGGCACTATGATGAGGCTA CGTGAGCGCACACTGGAACGCTATGATGAGGCCTGGTGAGTGCACACTGG GGCACTATGATGACGCCGGGTGAGCGCACACTGGGACAGTATGATGAGGC TAGGTGAGCGCACACTGGGACACTGATGAGGCTAGGTGAGTGCACACTGG GATACTAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312910	G G	GCTCACCC others(229): Show GCTCACCCGGCCTCATCATAGTATCCCAGTGTGCACTCACCTAGCCTCAT CAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCATACTGTCCCAGTGTGC GCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCACTCACCAGGCCTCAT CATAATGCCCCAGTGTGCACTCACCAAGCCTCATCATAGCGTTCCAGTGT GCGCTCACGTAGCCTCATCATAGTGCCCCAGTGTACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0273 a0001c0001t0018g0273	1	344	0.0029	236	c.327 others(253): Show c.327+5871_327+5872insTGTACACTGGGGCACTATGATGAGGCTA CGTGAGCGCACACTGGAACGCTATGATGAGGCTTGGTGAGTGCACACTGG GGCATTATGATGAGGCCTGGTGAGTGCACACTGGGGCACTATGATGAGGC CGGGTGAGCGCACACTGGGACAGTATGATGAGGCTAGGTGAGCGCACACT GGGACACTGATGAGGCTAGGTGAGTGCACACTGGGATACTATGATGAGGC CGGGTGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312933	C C	CCCCAGTG others(229): Show CCCCAGTGTGCACTCACCTAGCCTCATCAGTGTCCCAGTGTGCGCTCACC TAGCCTCATCATACTGTCCCAGTGTGCGCTCACCCGGCCTCATCATAGTG CCCCAGTGTGCACTCACCAGGCCTCATCATAATGCCCCAGTGTGCACTCA CCAAGCCTCATCATAGCGTTCCAGTGTGCGCTCACGTAGCCTCATCATAG TGCCCCAGTGTACACTCACCCGGCCTCATCATAGTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0272 a0001c0001t0018g0272	1	344	0.0029	236	c.327 others(253): Show c.327+5848_327+5849insAAACTATGATGAGGCCGGGTGAGTGTAC ACTGGGGCACTATGATGAGGCTACGTGAGCGCACACTGGAACGCTATGAT GAGGCTTGGTGAGTGCACACTGGGGCATTATGATGAGGCCTGGTGAGTGC ACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGACAGTATG ATGAGGCTAGGTGAGCGCACACTGGGACACTGATGAGGCTAGGTGAGTGC ACACTGGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS9_chr19_2355265_2431261	2418692	T T	TTCCCTTC others(229): Show TTCCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCTCCC TACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCC TTTCCTTCCCTCCATCCCTTCCCTTCCCTTCCCTCCCTCCCTCTCCTTCC TTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCCCTCCC TCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0003 a0009c0031t0003	a0009c0031t0003g0110 a0009c0031t0003g0110	1	114	0.0088	236	c.215 others(253): Show c.2154+559_2154+560insTCCTTCCCTCCCTCCCTTTCCTTCCCTC CCTCCCCTTCCCTCCCTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTC CCCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTCCCTTCCCTTCCCT CCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTT CCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTT CCCTCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418906	T T	TTCCCTTC others(229): Show TTCCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCTCCC TACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCC TTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCC CTCCATCCCTTCCCTTCCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCC TCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0096 a0007c0008t0003g0096	1	114	0.0088	236	c.215 others(253): Show c.2154+773_2154+774insTCCTTCCCTCCCTCCCTTTCCTTCCCTC CCTCCCCTTCCCTCCCTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTT CCCTTCCCTCCCTCCCTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCT CCCTCCCTTTCCTTCCCTCCATCCCTTCCCTTCCCTTCCCTCCCTCCCTC TCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTT CCCTCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMTC2_chr12_82681906_83139866	82997352	A A	ATATATAT others(229): Show ATATATATATATATGTGTATATATATATGTGTATATATATATGTGTGTAT ATATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATAT ATATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGT GTATATATATATGTGTATATATATATGTGTATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	96	0.0104	236	c.207 others(257): Show c.2070+11333_2070+11334insGTGTATATATATATGTGTGTATAT ATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATATGTGTATATATATATATGT GTATATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMTC2_chr12_82681906_83139866	82997352	A A	ATATATAT others(229): Show ATATATATATATATGTGTATATATATATGTGTATATATATATGTGTGTAT ATATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATATGTGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	96	0.0104	236	c.207 others(257): Show c.2070+11333_2070+11334insGTGTATATATATATGTGTGTATAT ATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATATGTGTATATATATATATGTGTATATATATATATGT GTATATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(229): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGG AGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGGAGGAAAGGGG AGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	320	0.0031	236	c.612 others(251): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCC CTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTC CTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGTCTT CTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCTCCC CTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(229): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG AGGGGAAGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGG AGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	320	0.0031	236	c.612 others(251): Show c.612-588_612-587insCTCCCCTCTTCTCCCCTCCCCTTTCCTCCC CTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCCCTTTCCTCCC TTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCC CTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGTCTT CTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCTCCC CTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930709	C C	CTGGGGTT others(229): Show CTGGGGTTAGGGAGGCCGGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGT AGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18949.hp2 NA18980.hp2 NA18945.hp1 NA18949.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0032 a0001c0001t0003g0002 a0001c0001t0001g0032 a0001c0001t0003g0002	3	466	0.0064	236	c.48 others(247): Show c.4881_*4882insCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCAGCCTCCCTACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTACCCCGGCCTCCCTAACCC CA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4660		chr11	TogoVar
TPK1_chr7_144446941_144841053	144488797	G G	GGAGGCAC others(229): Show GGAGGCACACACATGGGTGCACCCACATGCACACACACACGTGCACGTGG AGGCACACACATGGGTGCACCCACATGCACACACGTGCAGGTAGAGGCAC ACACATGGGTGCACCCACATGCACACACACACGTGCACGTGGAGGCACAC ACATGGGTGCACCCACATGCACACACACACGTGCACGTGGAGGTACACAC ATGGGTGCACCCACATGCACACACACACGTGCACGTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02897.hp2 HG03579.hp1 HG02572.hp2 HG02897.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0112 a0001c0001t0002g0026 a0001c0001t0001g0014 a0001c0001t0001g0112 a0001c0001t0002g0026	3	118	0.0254	236	c.614 others(255): Show c.614-35135_614-35134insTACGTGCACGTGTGTGTGTGCATGTG GGTGCACCCATGTGTGTACCTCCACGTGCACGTGTGTGTGTGCATGTGGG TGCACCCATGTGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGGTG CACCCATGTGTGTGCCTCTACCTGCACGTGTGTGCATGTGGGTGCACCCA TGTGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGGTGCACCCATG TGTGTGCCTC	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	8/8			chr7	TogoVar
TPK1_chr7_144446941_144841053	144488797	G G	GGAGGCAC others(229): Show GGAGGCACACACATGGGTGCACCCACATGCACACACACACGTGCACGTGG AGGCACACACATGGGTGCACCCACATGCACACACGTGCAGGTAGAGGCAC ACACATGGGTGCACCCACATGCACACACACACGTGCACGTGGAGGCACAC ACATGGGTGCACCCACATGCACACACACACGTGCACGTGGAGGTACACAC ATGGGTGCACCCACATGCACACACACACGTGCATGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01952.hp2 others(12): Show HG00735.hp1 HG00738.hp2 HG01952.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02622.hp1 HG02886.hp2 HG02976.hp1 HG03831.hp1 HG03942.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0022 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0002g0102 a0001c0001t0002g0113 a0001c0001t0003g0013 a0001c0001t0003g0038 a0001c0001t0009g0074	15	118	0.1271	236	c.614 others(255): Show c.614-35135_614-35134insTACATGCACGTGTGTGTGTGCATGTG GGTGCACCCATGTGTGTACCTCCACGTGCACGTGTGTGTGTGCATGTGGG TGCACCCATGTGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGGTG CACCCATGTGTGTGCCTCTACCTGCACGTGTGTGCATGTGGGTGCACCCA TGTGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGGTGCACCCATG TGTGTGCCTC	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	8/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAC others(229): Show GTATATACGTATACATGTGTACACATGTGTATACGTACACATGTGTACAC ATGTGTATACGTACACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTATGTATGTGTATATAT GTATACATGTATATATGTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	388	0.0026	236	c.-23 others(253): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CATGTATACATATATACACATACATACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTGTACG TATACACATGTGTACACATGTGTACGTATACACATGTGTACACATGTATA CGTATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar

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