From d28536b395ff6aa314061e2bcdc3d112048a6740 Mon Sep 17 00:00:00 2001 From: hyginn Date: Tue, 17 Oct 2017 07:32:01 -0400 Subject: [PATCH] Data files for ABC-INT-Mutation_impact integrator unit --- data/ABC-INT-Mutation_impact.RData | Bin 0 -> 1628 bytes data/KRAS_HSa_coding.fa | 11 ++ data/OR1A1_HSa_coding.fa | 17 ++ data/PTPN11_HSa_coding.fa | 31 ++++ data/intogen-KRAS-distribution-data.tsv | 179 ++++++++++++++++++++++ data/intogen-OR1A1-distribution-data.tsv | 49 ++++++ data/intogen-PTPN11-distribution-data.tsv | 113 ++++++++++++++ 7 files changed, 400 insertions(+) create mode 100644 data/ABC-INT-Mutation_impact.RData create mode 100644 data/KRAS_HSa_coding.fa create mode 100644 data/OR1A1_HSa_coding.fa create mode 100644 data/PTPN11_HSa_coding.fa create mode 100644 data/intogen-KRAS-distribution-data.tsv create mode 100644 data/intogen-OR1A1-distribution-data.tsv create mode 100644 data/intogen-PTPN11-distribution-data.tsv diff --git a/data/ABC-INT-Mutation_impact.RData b/data/ABC-INT-Mutation_impact.RData new file mode 100644 index 0000000000000000000000000000000000000000..320ea9c88b5d4c8747dc36f44d640abdde6a2320 GIT binary patch literal 1628 zcmV-i2BY~OiwFP!000001C5%yj%7s*MQ=Y68UlW$3CJxYIY5F@%fX}wVkVgXQ`Z`S#8I|1Uqk z{r36yPk(&+^Yi_0-{1fH>)(HQimvy^>@SZM@#V4OeKgK!_IdZrP#x#-yijKpOB5c{ zW;mk}XOs9@zQ52s#d$oF<(VPRXq-*rg$RuHSwc@7`QJ7xOqOS1JmSPr^0US<&uUR6 z*2xI7q@EZ{&_jVuo`sLqv(4(5j7IGgL*ej+M=TL;l2SXgOvb1#b5{Cf`ZMN5*>(`A z&BM2t558bTCH8Pm!PINn4id6c=cOgpLo~_RFW%MAfQK*{w!@$C1@lEK?l3%&$2dH3 z=bS>r9swSTXY>$rzGPwS7sq5&Go>x;38XMdwvED2ZHdD@l(~?Hhv#viw$K`Uey@e5`+0aF&$17U0l#yXP$KTCO`^l_NaJVb;cmgsgo zAsOpw?~)_{j`5Y2`0hi0_~rGLYU1(D0F*Iv(x}WceMZ}{iJ{hJZ5I|EU+F$D3`v+m z&&K#t%o{Xow8g+~+a#!n@K@?)j;8!J(Whx`;_XcQU`ND)V)QRAH% zoKVXmb&Ou3k(XMkr->!tmj90g)Mas%-DGl`!7J5Poleds_SuQarm%x*fuR_UzCy(f zPtj^K=Qk{&*)r-^!@ls0U5adr-_e-3z^JWkuq75riEL4&PtiaJSZJ^tfgm6vB9v7d zVmn$el3N@q+PukFS2>d&1g$eDh&k&8$x@3}=8!GHu7MWhUFPm`?$&~4@v&EPKms*M z6571QV?~Nnvv*HIdEP~DT#uUW^Y&npB>XmL(RtH+k%};Ep6cbwNGD4MW{U>QNGEl-#zSh7F|*QR$2;?; zt4pba&RXgVYtnNvy~=6jEWeB3WZF!3-M7>i8sMeWQEth$WBMjr`%$Ik8Ig;+LMXq|U>N8n!KTW5$X$XFAQ<2VtUbt1}kg`D#zA> zw3epfwSRcX8R(*#0Wk5tiM2Gc#drv#srS)KH-EVS3bBJ@-za~*ZEO;dpsPYQRMX~l zoS}DOB#!Efh31?{Yz&y2&!fj@G{QBH7MhZRsag?9zrvdKDS! z3;iOiar$KbM^?Q00$S`Kdaaz;LkoxI?z)Y4{LU>aPF zFDI2kwFF@i!xS-StK~y2wXe@h)X>TFN^#gh1%}pCgdhd}WC5b0LBEk4%wTPj(NVRi aj<5{iCOzjFJNKgN_V+&`krrrzF8}~;5jjx+ literal 0 HcmV?d00001 diff --git a/data/KRAS_HSa_coding.fa b/data/KRAS_HSa_coding.fa new file mode 100644 index 0000000..a53be94 --- /dev/null +++ b/data/KRAS_HSa_coding.fa @@ -0,0 +1,11 @@ +>KRAS-201 cds:protein_coding +ATGACTGAATATAAACTTGTGGTAGTTGGAGCTGGTGGCGTAGGCAAGAGTGCCTTGACG +ATACAGCTAATTCAGAATCATTTTGTGGACGAATATGATCCAACAATAGAGGATTCCTAC +AGGAAGCAAGTAGTAATTGATGGAGAAACCTGTCTCTTGGATATTCTCGACACAGCAGGT +CAAGAGGAGTACAGTGCAATGAGGGACCAGTACATGAGGACTGGGGAGGGCTTTCTTTGT +GTATTTGCCATAAATAATACTAAATCATTTGAAGATATTCACCATTATAGAGAACAAATT +AAAAGAGTTAAGGACTCTGAAGATGTACCTATGGTCCTAGTAGGAAATAAATGTGATTTG +CCTTCTAGAACAGTAGACACAAAACAGGCTCAGGACTTAGCAAGAAGTTATGGAATTCCT +TTTATTGAAACATCAGCAAAGACAAGACAGAGAGTGGAGGATGCTTTTTATACATTGGTG +AGAGAGATCCGACAATACAGATTGAAAAAAATCAGCAAAGAAGAAAAGACTCCTGGCTGT +GTGAAAATTAAAAAATGCATTATAATGTAA diff --git a/data/OR1A1_HSa_coding.fa b/data/OR1A1_HSa_coding.fa new file mode 100644 index 0000000..3b9fcc5 --- /dev/null +++ b/data/OR1A1_HSa_coding.fa @@ -0,0 +1,17 @@ +>OR1A1-201 cds:protein_coding +ATGAGGGAAAATAACCAGTCCTCTACACTGGAATTCATCCTCCTGGGAGTTACTGGTCAG +CAGGAACAGGAAGATTTCTTCTACATCCTCTTCTTGTTCATTTACCCCATCACATTGATT +GGAAACCTGCTCATCGTCCTAGCCATTTGCTCTGATGTTCGCCTTCACAACCCCATGTAT +TTTCTCCTTGCCAACCTCTCCTTGGTTGACATCTTCTTCTCATCGGTAACCATCCCTAAG +ATGCTGGCCAACCATCTCTTGGGCAGCAAATCCATCTCTTTTGGGGGATGCCTAACGCAG +ATGTATTTCATGATAGCCTTGGGTAACACAGACAGCTATATTTTGGCTGCAATGGCATAT +GATCGAGCTGTGGCCATCAGCCGCCCACTTCACTACACAACAATTATGAGTCCACGGTCT +TGTATCTGGCTTATTGCTGGGTCTTGGGTGATTGGAAATGCCAATGCCCTCCCCCACACT +CTGCTCACAGCTAGTCTGTCCTTCTGTGGCAACCAGGAAGTGGCCAACTTCTACTGTGAC +ATTACCCCCTTGCTGAAGTTATCCTGTTCTGACATCCACTTTCATGTGAAGATGATGTAC +CTAGGGGTTGGCATTTTCTCTGTGCCATTACTATGCATCATTGTCTCCTATATTCGAGTC +TTCTCCACAGTCTTCCAGGTTCCTTCCACCAAGGGCGTGCTCAAGGCCTTCTCCACCTGT +GGTTCCCACCTCACGGTTGTCTCTTTGTATTATGGTACAGTCATGGGCACGTATTTCCGC +CCTTTGACCAATTATAGCCTAAAAGACGCAGTGATCACTGTAATGTACACGGCAGTGACC +CCAATGTTAAATCCTTTCATCTACAGTCTGAGAAATCGGGACATGAAGGCTGCCCTGCGG +AAACTCTTCAACAAGAGAATCTCCTCGTAA diff --git a/data/PTPN11_HSa_coding.fa b/data/PTPN11_HSa_coding.fa new file mode 100644 index 0000000..50856a7 --- /dev/null +++ b/data/PTPN11_HSa_coding.fa @@ -0,0 +1,31 @@ +>PTPN11-201 cds:protein_coding +ATGACATCGCGGAGATGGTTTCACCCAAATATCACTGGTGTGGAGGCAGAAAACCTACTG +TTGACAAGAGGAGTTGATGGCAGTTTTTTGGCAAGGCCTAGTAAAAGTAACCCTGGAGAC +TTCACACTTTCCGTTAGAAGAAATGGAGCTGTCACCCACATCAAGATTCAGAACACTGGT +GATTACTATGACCTGTATGGAGGGGAGAAATTTGCCACTTTGGCTGAGTTGGTCCAGTAT +TACATGGAACATCACGGGCAATTAAAAGAGAAGAATGGAGATGTCATTGAGCTTAAATAT +CCTCTGAACTGTGCAGATCCTACCTCTGAAAGGTGGTTTCATGGACATCTCTCTGGGAAA +GAAGCAGAGAAATTATTAACTGAAAAAGGAAAACATGGTAGTTTTCTTGTACGAGAGAGC +CAGAGCCACCCTGGAGATTTTGTTCTTTCTGTGCGCACTGGTGATGACAAAGGGGAGAGC +AATGACGGCAAGTCTAAAGTGACCCATGTTATGATTCGCTGTCAGGAACTGAAATACGAC +GTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAAT +CCTATGGTGGAAACATTGGGTACAGTACTACAACTCAAGCAGCCCCTTAACACGACTCGT +ATAAATGCTGCTGAAATAGAAAGCAGAGTTCGAGAACTAAGCAAATTAGCTGAGACCACA +GATAAAGTCAAACAAGGCTTTTGGGAAGAATTTGAGACACTACAACAACAGGAGTGCAAA +CTTCTCTACAGCCGAAAAGAGGGTCAAAGGCAAGAAAACAAAAACAAAAATAGATATAAA +AACATCCTGCCCTTTGATCATACCAGGGTTGTCCTACACGATGGTGATCCCAATGAGCCT +GTTTCAGATTACATCAATGCAAATATCATCATGCCTGAATTTGAAACCAAGTGCAACAAT +TCAAAGCCCAAAAAGAGTTACATTGCCACACAAGGCTGCCTGCAAAACACGGTGAATGAC +TTTTGGCGGATGGTGTTCCAAGAAAACTCCCGAGTGATTGTCATGACAACGAAAGAAGTG +GAGAGAGGAAAGAGTAAATGTGTCAAATACTGGCCTGATGAGTATGCTCTAAAAGAATAT +GGCGTCATGCGTGTTAGGAACGTCAAAGAAAGCGCCGCTCATGACTATACGCTAAGAGAA +CTTAAACTTTCAAAGGTTGGACAAGGGAATACGGAGAGAACGGTCTGGCAATACCACTTT +CGGACCTGGCCGGACCACGGCGTGCCCAGCGACCCTGGGGGCGTGCTGGACTTCCTGGAG +GAGGTGCACCATAAGCAGGAGAGCATCATGGATGCAGGGCCGGTCGTGGTGCACTGCAGT +GCTGGAATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTATTGACATCATCAGA +GAGAAAGGTGTTGACTGCGATATTGACGTTCCCAAAACCATCCAGATGGTGCGGTCTCAG +AGGTCAGGGATGGTCCAGACAGAAGCACAGTACCGATTTATCTATATGGCGGTCCAGCAT +TATATTGAAACACTACAGCGCAGGATTGAAGAAGAGCAGAAAAGCAAGAGGAAAGGGCAC +GAATATACAAATATTAAGTATTCTCTAGCGGACCAGACGAGTGGAGATCAGAGCCCTCTC +CCGCCTTGTACTCCAACGCCACCCTGTGCAGAAATGAGAGAAGACAGTGCTAGAGTCTAT +GAAAACGTGGGCCTGATGCAACAGCAGAAAAGTTTCAGATGA diff --git a/data/intogen-KRAS-distribution-data.tsv b/data/intogen-KRAS-distribution-data.tsv new file mode 100644 index 0000000..c2ee938 --- /dev/null +++ b/data/intogen-KRAS-distribution-data.tsv @@ -0,0 +1,179 @@ +MUTS_PAM STRAND MOST_SEVERE START MUTS_PAM_SAMPLES REF MUTS_CS ALT AA_CHANGE CHR MUTS_CS_SAMPLES PROTEIN_POS GENE TRANSCRIPT +93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000311936 +93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000557334 +93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000256078 +93 + missense_variant 25398284 93 C 93 T G/D 12 93 12 ENSG00000133703 ENST00000556131 +86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000311936 +86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000557334 +86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000556131 +86 + missense_variant 25398284 86 C 86 A G/V 12 86 12 ENSG00000133703 ENST00000256078 +72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000556131 +72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000256078 +72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000557334 +72 + missense_variant 25398285 72 C 72 A G/C 12 72 12 ENSG00000133703 ENST00000311936 +63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000557334 +63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000556131 +63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000256078 +63 - missense_variant 25398284 63 G 63 A G/D 12 63 12 ENSG00000133703 ENST00000311936 +36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000311936 +36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000256078 +36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000556131 +36 - missense_variant 25398284 36 G 36 T G/V 12 36 12 ENSG00000133703 ENST00000557334 +24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000256078 +24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000311936 +24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000557334 +24 + missense_variant 25398281 24 C 24 T G/D 12 24 13 ENSG00000133703 ENST00000556131 +23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000556131 +23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000311936 +23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000557334 +23 + missense_variant 25398284 23 C 23 G G/A 12 23 12 ENSG00000133703 ENST00000256078 +16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000556131 +16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000311936 +16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000557334 +16 - missense_variant 25398285 16 G 16 C G/R 12 16 12 ENSG00000133703 ENST00000256078 +13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000311936 +13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000556131 +13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000557334 +13 + missense_variant 25398285 13 C 13 G G/R 12 13 12 ENSG00000133703 ENST00000256078 +11 + missense_variant 25380275 11 T 11 G Q/H 12 11 61 ENSG00000133703 ENST00000311936 +11 + missense_variant 25380275 11 T 11 G Q/H 12 11 61 ENSG00000133703 ENST00000256078 +10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000557334 +10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000311936 +10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000556131 +10 + missense_variant 25398282 10 C 10 A G/C 12 10 13 ENSG00000133703 ENST00000256078 +9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000557334 +9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000556131 +9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000311936 +9 + missense_variant 25398285 9 C 9 T G/S 12 9 12 ENSG00000133703 ENST00000256078 +7 + missense_variant 25380276 7 T 7 A Q/L 12 7 61 ENSG00000133703 ENST00000256078 +7 + missense_variant 25378562 7 C 7 T A/T 12 7 146 ENSG00000133703 ENST00000256078 +7 + missense_variant 25378562 7 C 7 T A/T 12 7 146 ENSG00000133703 ENST00000311936 +7 + missense_variant 25380276 7 T 7 A Q/L 12 7 61 ENSG00000133703 ENST00000311936 +5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000311936 +5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000256078 +5 + missense_variant 25380276 5 T 5 C Q/R 12 5 61 ENSG00000133703 ENST00000311936 +5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000557334 +5 + missense_variant 25398284 5 CC 5 AA G/F 12 5 12 ENSG00000133703 ENST00000556131 +5 + missense_variant 25380276 5 T 5 C Q/R 12 5 61 ENSG00000133703 ENST00000256078 +4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000256078 +4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000557334 +4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000311936 +4 + missense_variant 25398284 4 C 4 A G/V 12 4 12.0 ENSG00000133703 ENST00000556131 +3 + missense_variant 25380277 3 G 3 T Q/K 12 3 61 ENSG00000133703 ENST00000256078 +3 + missense_variant 25380275 3 T 3 A Q/H 12 3 61 ENSG00000133703 ENST00000256078 +3 + missense_variant 25378647 3 T 3 G K/N 12 3 117 ENSG00000133703 ENST00000256078 +3 + missense_variant 25380275 3 T 3 A Q/H 12 3 61 ENSG00000133703 ENST00000311936 +3 + missense_variant 25378647 3 T 3 G K/N 12 3 117 ENSG00000133703 ENST00000311936 +3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000256078 +3 - missense_variant 25380275 3 A 3 C Q/H 12 3 61 ENSG00000133703 ENST00000256078 +3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000256078 +3 + missense_variant 25380277 3 G 3 T Q/K 12 3 61 ENSG00000133703 ENST00000311936 +3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000311936 +3 - missense_variant 25380275 3 A 3 C Q/H 12 3 61 ENSG00000133703 ENST00000311936 +3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000311936 +3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000556131 +3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000557334 +3 + missense_variant 25398284 3 C 3 T G/D 12 3 12.0 ENSG00000133703 ENST00000557334 +3 - missense_variant 25398281 3 G 3 A G/D 12 3 13 ENSG00000133703 ENST00000556131 +2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000556131 +2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000311936 +2 - missense_variant 25380276 2 A 2 G Q/R 12 2 61 ENSG00000133703 ENST00000311936 +2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000557334 +2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000556131 +2 - missense_variant 25378562 2 G 2 A A/T 12 2 146 ENSG00000133703 ENST00000311936 +2 - missense_variant 25378562 2 G 2 A A/T 12 2 146 ENSG00000133703 ENST00000256078 +2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000256078 +2 - missense_variant 25380276 2 A 2 G Q/R 12 2 61 ENSG00000133703 ENST00000256078 +2 + missense_variant 25398255 2 G 2 T Q/K 12 2 22 ENSG00000133703 ENST00000311936 +2 + missense_variant 25378561 2 G 2 A A/V 12 2 146 ENSG00000133703 ENST00000311936 +2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000256078 +2 - missense_variant 25398285 2 G 2 A G/S 12 2 12 ENSG00000133703 ENST00000557334 +2 + missense_variant 25378561 2 G 2 A A/V 12 2 146 ENSG00000133703 ENST00000256078 +1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000557334 +1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000557334 +1 - missense_variant 25362743 1 A 1 T S/C 12 1 72 ENSG00000133703 ENST00000557334 +1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000557334 +1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000557334 +1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000557334 +0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000557334 +1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000557334 +0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000557334 +0 + synonymous_variant 25380278 0 A 1 G - 12 1 60 ENSG00000133703 ENST00000311936 +1 - missense_variant 25378647 1 A 1 T K/N 12 1 117 ENSG00000133703 ENST00000256078 +1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000256078 +1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000256078 +1 + missense_variant 25362743 1 A 1 G C/R 12 1 185 ENSG00000133703 ENST00000311936 +0 + inframe_deletion 25362744 0 CTTTGT 1 - - 12 1 183-184 ENSG00000133703 ENST00000311936 +1 + missense_variant 25378557 1 C 1 G K/N 12 1 147 ENSG00000133703 ENST00000311936 +1 + missense_variant 25378562 1 C 1 G A/P 12 1 146 ENSG00000133703 ENST00000311936 +1 + missense_variant 25378562 1 C 1 T A/T 12 1 146.0 ENSG00000133703 ENST00000311936 +1 + missense_variant 25378594 1 C 1 G R/T 12 1 135 ENSG00000133703 ENST00000311936 +1 + missense_variant 25378645 1 C 1 G C/S 12 1 118 ENSG00000133703 ENST00000311936 +1 + missense_variant 25380240 1 C 1 A R/M 12 1 73.0 ENSG00000133703 ENST00000311936 +1 + missense_variant 25380254 1 C 1 A R/S 12 1 68 ENSG00000133703 ENST00000311936 +1 + missense_variant 25380271 1 C 1 T E/K 12 1 63.0 ENSG00000133703 ENST00000311936 +1 + missense_variant 25380274 1 C 1 T E/K 12 1 62 ENSG00000133703 ENST00000311936 +1 + missense_variant 25380275 1 T 1 G Q/H 12 1 61.0 ENSG00000133703 ENST00000311936 +1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000256078 +1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000256078 +1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000256078 +1 + missense_variant 25380282 1 G 1 C A/G 12 1 59 ENSG00000133703 ENST00000256078 +1 + missense_variant 25380271 1 C 1 T E/K 12 1 63.0 ENSG00000133703 ENST00000256078 +1 + missense_variant 25380274 1 C 1 T E/K 12 1 62 ENSG00000133703 ENST00000256078 +1 + missense_variant 25380275 1 T 1 G Q/H 12 1 61.0 ENSG00000133703 ENST00000256078 +1 + missense_variant 25380277 1 GA 1 TT GQ/GK 12 1 60-61 ENSG00000133703 ENST00000256078 +0 + synonymous_variant 25380278 0 A 1 G - 12 1 60 ENSG00000133703 ENST00000256078 +0 + synonymous_variant 25380278 0 A 1 T - 12 1 60 ENSG00000133703 ENST00000256078 +1 + missense_variant 25380282 1 G 1 T A/E 12 1 59 ENSG00000133703 ENST00000256078 +0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000256078 +1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000256078 +1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000256078 +0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000256078 +1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000256078 +0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000256078 +1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000256078 +1 + missense_variant 25380277 1 GA 1 TT GQ/GK 12 1 60-61 ENSG00000133703 ENST00000311936 +0 + synonymous_variant 25380278 0 A 1 T - 12 1 60 ENSG00000133703 ENST00000311936 +1 + missense_variant 25380240 1 C 1 A R/M 12 1 73.0 ENSG00000133703 ENST00000256078 +1 + missense_variant 25380282 1 G 1 C A/G 12 1 59 ENSG00000133703 ENST00000311936 +1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000556131 +0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000556131 +1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000556131 +0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000556131 +1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000556131 +1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000556131 +1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000556131 +1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000556131 +1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000556131 +1 + missense_variant 25362743 1 A 1 G C/R 12 1 72 ENSG00000133703 ENST00000557334 +0 + inframe_deletion 25362744 0 CTTTGT 1 - - 12 1 70-71 ENSG00000133703 ENST00000557334 +1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000557334 +1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000557334 +0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000557334 +1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000557334 +0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000556131 +1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000556131 +1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000556131 +1 + missense_variant 25398281 1 C 1 A G/V 12 1 13 ENSG00000133703 ENST00000311936 +1 + missense_variant 25380282 1 G 1 T A/E 12 1 59 ENSG00000133703 ENST00000311936 +1 + missense_variant 25398211 1 T 1 C I/M 12 1 36 ENSG00000133703 ENST00000311936 +1 + missense_variant 25398213 1 T 1 A I/L 12 1 36 ENSG00000133703 ENST00000311936 +0 + synonymous_variant 25398250 0 T 1 C - 12 1 23 ENSG00000133703 ENST00000311936 +1 + missense_variant 25398260 1 G 1 C T/R 12 1 20 ENSG00000133703 ENST00000311936 +0 + synonymous_variant 25398280 0 G 1 A - 12 1 13 ENSG00000133703 ENST00000311936 +0 + synonymous_variant 25398283 0 A 1 C - 12 1 12 ENSG00000133703 ENST00000311936 +1 - missense_variant 25398284 1 G 1 C G/A 12 1 12 ENSG00000133703 ENST00000311936 +1 + missense_variant 25398285 1 C 1 A G/C 12 1 12.0 ENSG00000133703 ENST00000311936 +1 + missense_variant 25398285 1 C 1 G G/R 12 1 12.0 ENSG00000133703 ENST00000311936 +1 + missense_variant 25398306 1 T 1 C K/E 12 1 5 ENSG00000133703 ENST00000311936 +1 - missense_variant 25362743 1 A 1 T S/C 12 1 185 ENSG00000133703 ENST00000311936 +1 - missense_variant 25378647 1 A 1 T K/N 12 1 117 ENSG00000133703 ENST00000311936 +1 - missense_variant 25398282 1 G 1 T G/C 12 1 13 ENSG00000133703 ENST00000311936 +1 + missense_variant 25380254 1 C 1 A R/S 12 1 68 ENSG00000133703 ENST00000256078 +1 + missense_variant 25378645 1 C 1 G C/S 12 1 118 ENSG00000133703 ENST00000256078 +1 + missense_variant 25378594 1 C 1 G R/T 12 1 135 ENSG00000133703 ENST00000256078 +1 + missense_variant 25368454 1 C 1 T R/Q 12 1 164 ENSG00000133703 ENST00000256078 +1 + missense_variant 25368473 1 T 1 C T/A 12 1 158 ENSG00000133703 ENST00000256078 +1 + missense_variant 25378557 1 C 1 G K/N 12 1 147 ENSG00000133703 ENST00000256078 +1 + missense_variant 25378562 1 C 1 G A/P 12 1 146 ENSG00000133703 ENST00000256078 +1 + missense_variant 25378562 1 C 1 T A/T 12 1 146.0 ENSG00000133703 ENST00000256078 diff --git a/data/intogen-OR1A1-distribution-data.tsv b/data/intogen-OR1A1-distribution-data.tsv new file mode 100644 index 0000000..714de60 --- /dev/null +++ b/data/intogen-OR1A1-distribution-data.tsv @@ -0,0 +1,49 @@ +MUTS_PAM STRAND MOST_SEVERE START MUTS_PAM_SAMPLES REF MUTS_CS ALT AA_CHANGE CHR MUTS_CS_SAMPLES PROTEIN_POS GENE TRANSCRIPT +2 + missense_variant 3119330 2 G 2 A R/Q 17 2 139 ENSG00000172146 ENST00000304094 +2 + missense_variant 3119138 2 C 2 T S/L 17 2 75 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119772 0 C 2 T - 17 2 286 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119791 1 C 1 T R/W 17 1 293 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119799 1 G 1 A M/I 17 1 295 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119805 0 T 1 C - 17 1 297 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119823 0 C 1 T - 17 1 303 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119786 1 G 1 A R/K 17 1 291 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119744 1 C 1 G T/R 17 1 277 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119691 0 C 1 T - 17 1 259 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119589 0 C 1 T - 17 1 225 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119408 1 G 1 A S/N 17 1 165 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119431 1 G 1 A E/K 17 1 173 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119462 1 C 1 T P/L 17 1 183 ENSG00000172146 ENST00000304094 +1 + stop_gained 3119514 1 C 1 G - 17 1 200 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119530 1 T 1 G F/V 17 1 206 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119581 1 A 1 G T/A 17 1 223 ENSG00000172146 ENST00000304094 +1 + stop_gained 3119590 1 C 1 T - 17 1 226 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119679 1 G 1 T M/I 17 1 255 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119592 0 G 1 A - 17 1 226 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119596 1 C 1 T P/S 17 1 228 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119610 0 C 1 T - 17 1 232 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119627 1 C 1 T S/F 17 1 238 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119640 0 C 1 A - 17 1 242 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119672 1 C 1 T T/I 17 1 253 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119395 1 C 1 A L/M 17 1 161 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119403 0 A 1 G - 17 1 163 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119386 1 C 1 T P/S 17 1 158 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119289 0 C 1 A - 17 1 125 ENSG00000172146 ENST00000304094 +1 + stop_gained 3118972 1 C 1 T - 17 1 20 ENSG00000172146 ENST00000304094 +1 + missense_variant 3118978 1 G 1 A E/K 17 1 22 ENSG00000172146 ENST00000304094 +1 + missense_variant 3118986 1 A 1 C E/D 17 1 24 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119002 1 C 1 T L/F 17 1 30 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119029 0 T 1 C - 17 1 39 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119074 1 C 1 T R/C 17 1 54 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119075 1 G 1 A R/H 17 1 54 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119076 0 C 1 T - 17 1 54 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119115 0 C 1 T - 17 1 67 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119139 0 G 1 A - 17 1 75 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3119187 0 C 1 T - 17 1 91 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119210 1 C 1 T T/M 17 1 99 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119217 1 G 1 A M/I 17 1 101 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119264 1 C 1 T A/V 17 1 117 ENSG00000172146 ENST00000304094 +1 + missense_variant 3119269 1 G 1 A A/T 17 1 119 ENSG00000172146 ENST00000304094 +1 + missense_variant 3118961 1 G 1 A G/E 17 1 16 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3118956 0 C 1 A - 17 1 14 ENSG00000172146 ENST00000304094 +0 + synonymous_variant 3118944 0 G 1 A - 17 1 10 ENSG00000172146 ENST00000304094 +1 + missense_variant 3118928 1 A 1 C N/T 17 1 5 ENSG00000172146 ENST00000304094 diff --git a/data/intogen-PTPN11-distribution-data.tsv b/data/intogen-PTPN11-distribution-data.tsv new file mode 100644 index 0000000..879116c --- /dev/null +++ b/data/intogen-PTPN11-distribution-data.tsv @@ -0,0 +1,113 @@ +MUTS_PAM STRAND MOST_SEVERE START MUTS_PAM_SAMPLES REF MUTS_CS ALT AA_CHANGE CHR MUTS_CS_SAMPLES PROTEIN_POS GENE TRANSCRIPT +5 + missense_variant 112926888 5 G 5 T G/V 12 5 503 ENSG00000179295 ENST00000351677 +4 + missense_variant 112926270 4 C 4 T T/M 12 4 468 ENSG00000179295 ENST00000351677 +3 + missense_variant 112888198 3 G 3 A A/T 12 3 72 ENSG00000179295 ENST00000392597 +3 + missense_variant 112888198 3 G 3 A A/T 12 3 72 ENSG00000179295 ENST00000351677 +2 + missense_variant 112926910 2 G 2 C Q/H 12 2 510 ENSG00000179295 ENST00000351677 +2 + missense_variant 112926909 2 A 2 T Q/L 12 2 510 ENSG00000179295 ENST00000351677 +2 + missense_variant 112926900 2 C 2 A T/K 12 2 507 ENSG00000179295 ENST00000351677 +2 + missense_variant 112891006 2 C 2 T H/Y 12 2 114 ENSG00000179295 ENST00000392597 +2 + missense_variant 112888210 2 G 2 A E/K 12 2 76 ENSG00000179295 ENST00000392597 +2 + missense_variant 112888199 2 C 2 T A/V 12 2 72 ENSG00000179295 ENST00000392597 +2 + missense_variant 112888199 2 C 2 A A/D 12 2 72 ENSG00000179295 ENST00000392597 +2 + missense_variant 112891006 2 C 2 T H/Y 12 2 114 ENSG00000179295 ENST00000351677 +2 + missense_variant 112888210 2 G 2 A E/K 12 2 76 ENSG00000179295 ENST00000351677 +2 + missense_variant 112888199 2 C 2 T A/V 12 2 72 ENSG00000179295 ENST00000351677 +2 + missense_variant 112888199 2 C 2 A A/D 12 2 72 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112893822 0 T 1 C - 12 1 82 ENSG00000179295 ENST00000530818 +1 + missense_variant 112910837 1 C 1 G I/M 12 1 282 ENSG00000179295 ENST00000392597 +1 + missense_variant 112910844 1 T 1 G F/V 12 1 285.0 ENSG00000179295 ENST00000392597 +0 + synonymous_variant 112915507 0 A 1 G - 12 1 302 ENSG00000179295 ENST00000392597 +1 + missense_variant 112915523 1 A 1 G N/D 12 1 308 ENSG00000179295 ENST00000392597 +1 + missense_variant 112915743 1 A 1 G N/S 12 1 339 ENSG00000179295 ENST00000392597 +1 + missense_variant 112919908 1 T 1 G Y/D 12 1 375 ENSG00000179295 ENST00000392597 +1 + frameshift_variant 112920002 1 - 1 T - 12 1 406 ENSG00000179295 ENST00000392597 +1 + missense_variant 112924286 1 C 1 T T/M 12 1 411 ENSG00000179295 ENST00000392597 +1 + stop_gained 112924308 1 C 1 A - 12 1 418 ENSG00000179295 ENST00000392597 +1 + missense_variant 112924331 1 A 1 T H/L 12 1 426 ENSG00000179295 ENST00000392597 +1 + missense_variant 112924336 1 G 1 A V/M 12 1 428 ENSG00000179295 ENST00000392597 +1 + missense_variant 112892383 1 G 1 C V/L 12 1 26 ENSG00000179295 ENST00000530818 +0 + synonymous_variant 112892409 0 T 1 C - 12 1 34 ENSG00000179295 ENST00000530818 +1 + stop_gained 112893784 1 G 1 T - 12 1 70 ENSG00000179295 ENST00000530818 +0 + synonymous_variant 112893798 0 A 1 G - 12 1 74 ENSG00000179295 ENST00000530818 +1 + missense_variant 112910775 1 C 1 T L/F 12 1 262 ENSG00000179295 ENST00000392597 +0 + synonymous_variant 112893822 0 T 1 C - 12 1 237 ENSG00000179295 ENST00000392597 +0 + synonymous_variant 112893802 0 C 1 A - 12 1 231 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888211 1 A 1 C E/A 12 1 76 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888165 1 G 1 T D/Y 12 1 61 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888189 1 G 1 A E/K 12 1 69.0 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888189 1 G 1 A E/K 12 1 69 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888195 1 T 1 C F/L 12 1 71 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888197 1 T 1 A F/L 12 1 71 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888211 1 A 1 C E/A 12 1 76.0 ENSG00000179295 ENST00000392597 +1 + missense_variant 112891015 1 C 1 T L/F 12 1 117 ENSG00000179295 ENST00000392597 +0 + synonymous_variant 112893798 0 A 1 G - 12 1 229 ENSG00000179295 ENST00000392597 +1 + missense_variant 112891073 1 T 1 A L/H 12 1 136 ENSG00000179295 ENST00000392597 +0 + synonymous_variant 112891116 0 T 1 C - 12 1 150 ENSG00000179295 ENST00000392597 +1 + missense_variant 112891129 1 G 1 T D/Y 12 1 155 ENSG00000179295 ENST00000392597 +1 + missense_variant 112892383 1 G 1 C V/L 12 1 181 ENSG00000179295 ENST00000392597 +0 + synonymous_variant 112892409 0 T 1 C - 12 1 189 ENSG00000179295 ENST00000392597 +1 + stop_gained 112893784 1 G 1 T - 12 1 225 ENSG00000179295 ENST00000392597 +0 + synonymous_variant 112893802 0 C 1 A - 12 1 76 ENSG00000179295 ENST00000530818 +1 + missense_variant 112888163 1 G 1 T G/V 12 1 60 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888165 1 G 1 A D/N 12 1 61 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888162 1 G 1 C G/R 12 1 60 ENSG00000179295 ENST00000392597 +0 + synonymous_variant 112893822 0 T 1 C - 12 1 237 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888165 1 G 1 T D/Y 12 1 61 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888189 1 G 1 A E/K 12 1 69.0 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888189 1 G 1 A E/K 12 1 69 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888195 1 T 1 C F/L 12 1 71 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888197 1 T 1 A F/L 12 1 71 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888211 1 A 1 C E/A 12 1 76.0 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888211 1 A 1 C E/A 12 1 76 ENSG00000179295 ENST00000351677 +1 + missense_variant 112891015 1 C 1 T L/F 12 1 117 ENSG00000179295 ENST00000351677 +1 + missense_variant 112891073 1 T 1 A L/H 12 1 136 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112891116 0 T 1 C - 12 1 150 ENSG00000179295 ENST00000351677 +1 + missense_variant 112891129 1 G 1 T D/Y 12 1 155 ENSG00000179295 ENST00000351677 +1 + missense_variant 112892383 1 G 1 C V/L 12 1 181 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112892409 0 T 1 C - 12 1 189 ENSG00000179295 ENST00000351677 +1 + stop_gained 112893784 1 G 1 T - 12 1 225 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112893798 0 A 1 G - 12 1 229 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888165 1 G 1 A D/N 12 1 61 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888163 1 G 1 T G/V 12 1 60 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888162 1 G 1 C G/R 12 1 60 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112888161 0 T 1 C - 12 1 59 ENSG00000179295 ENST00000351677 +1 + missense_variant 112884103 1 G 1 A G/D 12 1 13 ENSG00000179295 ENST00000351677 +1 + missense_variant 112888139 1 C 1 G T/S 12 1 52 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112893802 0 C 1 A - 12 1 231 ENSG00000179295 ENST00000351677 +1 + missense_variant 112910775 1 C 1 T L/F 12 1 262 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112888161 0 T 1 C - 12 1 59 ENSG00000179295 ENST00000392597 +1 + missense_variant 112910837 1 C 1 G I/M 12 1 282 ENSG00000179295 ENST00000351677 +1 + missense_variant 112926887 1 G 1 C G/R 12 1 503 ENSG00000179295 ENST00000351677 +1 + missense_variant 112926908 1 C 1 G Q/E 12 1 510.0 ENSG00000179295 ENST00000351677 +1 + missense_variant 112939963 1 G 1 C G/R 12 1 539 ENSG00000179295 ENST00000351677 +1 + missense_variant 112939970 1 A 1 T E/V 12 1 541 ENSG00000179295 ENST00000351677 +1 + missense_variant 112939981 1 A 1 C I/L 12 1 545 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112939993 0 C 1 T - 12 1 549 ENSG00000179295 ENST00000351677 +1 + missense_variant 112939999 1 G 1 A D/N 12 1 551 ENSG00000179295 ENST00000351677 +1 + missense_variant 112940012 1 G 1 A G/E 12 1 555 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112940025 0 T 1 C - 12 1 559 ENSG00000179295 ENST00000351677 +1 + missense_variant 112940027 1 T 1 C L/P 12 1 560 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112940031 0 G 1 A - 12 1 561 ENSG00000179295 ENST00000351677 +1 + missense_variant 112940036 1 G 1 T C/F 12 1 563 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112940052 0 C 1 T - 12 1 568 ENSG00000179295 ENST00000351677 +1 + missense_variant 112884103 1 G 1 A G/D 12 1 13 ENSG00000179295 ENST00000392597 +1 + missense_variant 112888139 1 C 1 G T/S 12 1 52 ENSG00000179295 ENST00000392597 +1 + missense_variant 112926885 1 C 1 T S/L 12 1 502 ENSG00000179295 ENST00000351677 +1 + missense_variant 112926884 1 T 1 C S/P 12 1 502 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112926862 0 C 1 T - 12 1 494 ENSG00000179295 ENST00000351677 +1 + missense_variant 112924286 1 C 1 T T/M 12 1 411 ENSG00000179295 ENST00000351677 +1 + missense_variant 112910844 1 T 1 G F/V 12 1 285.0 ENSG00000179295 ENST00000351677 +0 + synonymous_variant 112915507 0 A 1 G - 12 1 302 ENSG00000179295 ENST00000351677 +1 + missense_variant 112915523 1 A 1 G N/D 12 1 308 ENSG00000179295 ENST00000351677 +1 + missense_variant 112915743 1 A 1 G N/S 12 1 339 ENSG00000179295 ENST00000351677 +1 + missense_variant 112919908 1 T 1 G Y/D 12 1 375 ENSG00000179295 ENST00000351677 +1 + frameshift_variant 112920002 1 - 1 T - 12 1 406 ENSG00000179295 ENST00000351677 +1 + stop_gained 112924308 1 C 1 A - 12 1 418 ENSG00000179295 ENST00000351677 +1 + missense_variant 112926852 1 C 1 T P/L 12 1 491 ENSG00000179295 ENST00000351677 +1 + missense_variant 112924331 1 A 1 T H/L 12 1 426 ENSG00000179295 ENST00000351677 +1 + missense_variant 112924336 1 G 1 A V/M 12 1 428 ENSG00000179295 ENST00000351677 +1 + missense_variant 112926248 1 G 1 A A/T 12 1 461 ENSG00000179295 ENST00000351677 +1 + missense_variant 112926249 1 C 1 G A/G 12 1 461 ENSG00000179295 ENST00000351677 +1 + missense_variant 112926291 1 TT 1 CA L/P 12 1 475 ENSG00000179295 ENST00000351677 +1 + missense_variant 112926839 1 G 1 T D/Y 12 1 487 ENSG00000179295 ENST00000351677