Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
BAG3	9531	broad.mit.edu	37	10	121436034	121436035	+	Frame_Shift_Ins	INS	-	-	ATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:121436034_121436035insATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	ENST00000369085.3	+	4	1274_1275	c.968_969insATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	c.(967-972)agtaagfs	p.SK323fs		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	323					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AAACCAGAAAGTAAGCCAGGCC	0.465		NA											False	0	False	10:121436034	0
PPFIA1	8500	broad.mit.edu	37	11	70202344	70202345	+	Frame_Shift_Ins	INS	-	-	AGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:70202344_70202345insAGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	ENST00000253925.7	+	19	2781_2782	c.2566_2567insAGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	c.(2566-2568)cgtfs	p.R856fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.R856fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	856					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAAAAAAATCGTAAACTTCAA	0.401		NA											False	0	False	11:70202344	0
KIAA1033	23325	broad.mit.edu	37	12	105558036	105558037	+	Frame_Shift_Ins	INS	-	-	AAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	rs61733563	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:105558036_105558037insAAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	ENST00000332180.5	+	31	3392_3393	c.3305_3306insAAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	c.(3304-3309)ctcttafs	p.-1101fs	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	NA					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GATGAAAAACTCTTACAAACCA	0.421		NA											False	0	False	12:105558036	0
TYRO3	7301	broad.mit.edu	37	15	41860561	41860562	+	Splice_Site	INS	-	-	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41860561_41860562insA	ENST00000263798.3	+	8	1331		c.e8+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	NA						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGAACCCAGGTAAGACAGAAC	0.53		NA											False	0	False	15:41860561	0
ASPM	259266	broad.mit.edu	37	1	197091099	197091100	+	Frame_Shift_Ins	INS	-	-	GCATTATTAAGATAAATTT			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:197091099_197091100insGCATTATTAAGATAAATTT	ENST00000367409.4	-	16	4071_4072	c.3815_3816insAAATTTATCTTAATAATGC	c.(3814-3816)ctcfs	p.-1272fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.-1272fs|ASPM_ENST00000367408.1_Frame_Shift_Ins_p.-522fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	NA					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTTTGTATGAGTCGAGCAGC	0.322		NA											False	0	False	1:197091099	0
PEX12	5193	broad.mit.edu	37	17	33902992	33902993	+	Frame_Shift_Del	DEL	AG	AG	-	rs61752110		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33902992_33902993delAG	ENST00000225873.4	-	3	1495_1496	c.888_889delCT	c.(886-891)ctcttafs	p.LL296fs		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	296					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTTTGGGTAAGAGGGGAGAAT	0.47		NA											False	2	False	17:33902992	0
NLRP2	55655	broad.mit.edu	37	19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-	rs3745905	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567		NA											False	1	True	19:55494630	0
PHF21B	112885	broad.mit.edu	37	22	45309889	45309935	+	Frame_Shift_Del	DEL	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	-	rs151004825	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	-	-	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:45309889_45309935delGGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	ENST00000313237.5	-	5	748_794	c.598_644delGCAACCCATCACTGTCCCCTCCACCCCTCCTCTCTTCCCCTCACCCC	c.(598-645)gcaacccatcactgtcccctccacccctcctctcttcccctcacccctfs	p.ATHHCPLHPSSLPLTP200fs	PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	200							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		tggggagggaggggtgaggggaagagaggaggggtggaggggacagtgatgggttgcggggtgaggg	0.644		NA											False	1	True	22:45309889	0
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483		NA											False	1	True	2:233708804	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
LUZP1	7798	broad.mit.edu	37	1	23420152	23420159	+	Frame_Shift_Del	DEL	ATTCAAGT	ATTCAAGT	-			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	ATTCAAGT	ATTCAAGT	-	-	ATTCAAGT	ATTCAAGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23420152_23420159delATTCAAGT	ENST00000302291.4	-	4	1397_1404	c.596_603delACTTGAAT	c.(595-603)tacttgaatfs	p.YLN199fs	LUZP1_ENST00000418342.1_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000314174.5_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000374623.3_Frame_Shift_Del_p.YLN199fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	199						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCTCCTTTTCATTCAAGTATTTTCTCTC	0.351		NA											False	1	True	1:23420152	0
NUP54	53371	broad.mit.edu	37	4	77053791	77053792	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:77053791_77053792insAAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT	ENST00000514987.1	-	5	669_670	c.647_648insATACGGGGAGTGTTTAGTTCTAAATCTTTCTTTTT	c.(646-648)catfs	p.H216fs	NUP54_ENST00000458189.2_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000342467.6_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000264883.3_Frame_Shift_Ins_p.H264fs			Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	264	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CTTGTTCAAAATGGGCATATAG	0.386		NA											False	0	True	4:77053791	0
GPR6	0	broad.mit.edu	37	6	110300379	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:110300379_110300435delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	82_138	c.64_120delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(64-120)gcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAATAAGGPDTGEWGPPA22del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAATAAGGPDTGEWGPPA37del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	22	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		cgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712		NA											False	1	False	6:110300379	0
GLT6D1	360203	broad.mit.edu	37	9	138516323	138516326	+	Frame_Shift_Del	DEL	CATG	CATG	-	rs112815437		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	CATG	CATG	-	-	CATG	CATG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:138516323_138516326delCATG	ENST00000371763.1	-	5	701_704	c.448_451delCATG	c.(448-453)catgtgfs	p.HV150fs		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	150					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGGCTCTTCACATGCACCAGGGGG	0.564		NA											False	1	False	9:138516323	0
EXOSC5	56915	broad.mit.edu	37	19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41903139G>A	ENST00000221233.4	-	1	245	c.95C>T	c.(94-96)gCc>gTc	p.A32V	CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	32					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGTTCGCAGGCAAAGTGCCG	0.582		NA											False	0	False	19:41903139	0
MUC13	56667	broad.mit.edu	37	3	124632520	124632520	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:124632520G>A	ENST00000311075.3	-	7	1008	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	324	EGF-like 2.					extracellular region|integral to membrane|plasma membrane		p.R324W(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATCACACCGAAGGGTCACT	0.423		NA											False	0	False	3:124632520	0
PCDHB8	0	broad.mit.edu	37	5	140558339	140558339	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140558339G>A	ENST00000239444.2	+	1	969	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		242	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGCCCCTGAATTTGAGCA	0.502		NA											False	0	False	5:140558339	0
MYT1L	23040	broad.mit.edu	37	2	1982980	1982980	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:1982980C>T	ENST00000399161.2	-	8	856	c.109G>A	c.(109-111)Gac>Aac	p.D37N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D37N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	37					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCACTGCCGTCACAGCCAGGG	0.512		NA											False	0	False	2:1982980	0
FAM170A	340069	broad.mit.edu	37	5	118965470	118965470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:118965470C>T	ENST00000515256.1	+	1	179	c.7C>T	c.(7-9)Cga>Tga	p.R3*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	3						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TATCATGAAACGACGACAAAA	0.458		NA											False	0	True	5:118965470	0
SPATC1L	84221	broad.mit.edu	37	21	47581948	47581948	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:47581948G>A	ENST00000291672.5	-	4	1639	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SPATC1L_ENST00000330205.6_Missense_Mutation_p.A39V	NM_001142854.1	NP_001136326.1			spermatogenesis and centriole associated 1-like	NA											NA						CACCACGCGCGCGTCCTTCTC	0.697		NA											False	0	True	21:47581948	0
ANKMY1	51281	broad.mit.edu	37	2	241496633	241496633	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:241496633C>T	ENST00000401804.1	-	2	258	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ANKMY1_ENST00000405523.3_Silent_p.L40L|ANKMY1_ENST00000406958.1_Silent_p.L40L|ANKMY1_ENST00000373318.2_Silent_p.L40L|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Silent_p.L119L|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Silent_p.L40L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CGTAGTTCTTCAGGGACCCCG	0.677		NA									OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:241496633	0
NADSYN1	55191	broad.mit.edu	37	11	71194032	71194032	+	Missense_Mutation	SNP	C	C	T	rs149234649		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:71194032C>T	ENST00000319023.2	+	14	1476	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.R170W|NADSYN1_ENST00000530055.1_Missense_Mutation_p.R59W	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	430	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	p.R430M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACGTGCACCCGGGCCAGAGA	0.607		NA											False	0	True	11:71194032	0
ZCCHC11	23318	broad.mit.edu	37	1	52927392	52927392	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:52927392C>A	ENST00000371544.3	-	17	3381	c.3119G>T	c.(3118-3120)aGa>aTa	p.R1040I	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1040I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1040					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ACCTGGATGTCTCTTAAGAAT	0.214		NA											False	0	False	1:52927392	0
CADM4	199731	broad.mit.edu	37	19	44131875	44131875	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:44131875G>A	ENST00000222374.2	-	2	180	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	44	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GGTGCAGACGGCAGGTGATCT	0.562		NA											False	0	False	19:44131875	0
HMCN1	83872	broad.mit.edu	37	1	186120449	186120449	+	Missense_Mutation	SNP	G	G	A	rs148097981		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:186120449G>A	ENST00000271588.4	+	94	14955	c.14726G>A	c.(14725-14727)cGt>cAt	p.R4909H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4909H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4909	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAATAATACGTGCCAAAATT	0.318		NA											False	0	False	1:186120449	0
CHST2	9435	broad.mit.edu	37	3	142841171	142841171	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:142841171G>A	ENST00000309575.3	+	2	2897	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	505					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCCCATGGCCGTCCTGGGCTA	0.607		NA											False	0	False	3:142841171	0
ZNF330	27309	broad.mit.edu	37	4	142150724	142150724	+	Splice_Site	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:142150724G>T	ENST00000262990.4	+	6	519		c.e6-1		ZNF330_ENST00000421169.2_Splice_Site	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	NA						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CTTGGTTACAGGGTGCAATAT	0.428		NA											False	0	True	4:142150724	0
WISP1	8840	broad.mit.edu	37	8	134233083	134233083	+	Splice_Site	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:134233083C>T	ENST00000250160.6	+	3	715	c.609C>T	c.(607-609)ttC>ttT	p.F203F	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	203					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	p.F203F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAGGAGCCTTCGGTGGGTGTG	0.632		NA											False	0	True	8:134233083	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7577022	0
ZC3H12A	80149	broad.mit.edu	37	1	37948876	37948876	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:37948876C>T	ENST00000373087.6	+	6	1580	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	488	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662		NA											False	0	False	1:37948876	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832490	42832490	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:42832490C>T	ENST00000314073.5	+	13	2722	c.2546C>T	c.(2545-2547)gCa>gTa	p.A849V	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A849V					GLTSCR1-like	NA											NA						GGCAGTAAAGCAAGCAGCTCT	0.512		NA											False	0	True	6:42832490	0
FYCO1	79443	broad.mit.edu	37	3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498		NA											False	0	False	3:45996750	0
ARHGAP33	115703	broad.mit.edu	37	19	36271129	36271129	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36271129G>A	ENST00000007510.4	+	7	662	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R37Q|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R173Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	173					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.R173Q(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AATCACGGCCGGCGACTGCTC	0.592		NA											False	0	True	19:36271129	0
GPR156	165829	broad.mit.edu	37	3	119886046	119886046	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:119886046G>A	ENST00000464295.1	-	10	2723	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	GPR156_ENST00000315843.3_Missense_Mutation_p.R760W|GPR156_ENST00000461057.1_Missense_Mutation_p.R756W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	760						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGTAGGGCCGGTGGCAGCGG	0.572		NA											False	0	False	3:119886046	0
MOCS1	4337	broad.mit.edu	37	6	39881079	39881079	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:39881079C>G	ENST00000373186.4	-	5	876	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	MOCS1_ENST00000425303.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E218Q|MOCS1_ENST00000308559.7_Missense_Mutation_p.E247Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E160Q|MOCS1_ENST00000340692.5_Missense_Mutation_p.E247Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E218Q	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	247	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCATATACTCTATGAAGCGC	0.582		NA											False	0	False	6:39881079	0
MIR429	0	broad.mit.edu	37	1	1104393	1104393	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:1104393G>A	ENST00000362106.1	+	0	9					NR_029957.1					NA											NA						ACCGCCGGCCGATGGGCGTCT	0.647		NA											False	0	True	1:1104393	0
EGFLAM	133584	broad.mit.edu	37	5	38370412	38370412	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:38370412A>T	ENST00000322350.5	+	6	906	c.560A>T	c.(559-561)aAg>aTg	p.K187M	EGFLAM_ENST00000354891.3_Missense_Mutation_p.K187M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	187	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GATTTCGACAAGAAGTGGACC	0.448		NA											False	0	False	5:38370412	0
PCDH15	65217	broad.mit.edu	37	10	55570351	55570351	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:55570351C>A	ENST00000373965.2	-	35	4862	c.4468G>T	c.(4468-4470)Gtt>Ttt	p.V1490F	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.W1117C|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1490F|PCDH15_ENST00000395438.1_Missense_Mutation_p.W1506C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1487F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTTCACCAACCACCTCACCA	0.373		NA								HNSCC(58;0.16)			False	0	True	10:55570351	0
CCDC180	100499483	broad.mit.edu	37	9	100132333	100132333	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:100132333A>G	ENST00000375202.2	+	46	5803	c.4451A>G	c.(4450-4452)gAg>gGg	p.E1484G	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.E1429G|CCDC180_ENST00000529487.1_Missense_Mutation_p.E1484G					coiled-coil domain containing 180	NA											NA						GGACAGTTCGAGGAACAGCAG	0.542		NA											False	0	False	9:100132333	0
PCID2	55795	broad.mit.edu	37	13	113839831	113839831	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:113839831G>A	ENST00000375457.2	-	8	1101	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000337344.4_Silent_p.L171L|PCID2_ENST00000246505.5_Silent_p.L225L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGGTTCACCAGAAACAGCATG	0.353		NA											False	0	True	13:113839831	0
LMAN1L	79748	broad.mit.edu	37	15	75116728	75116728	+	Missense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:75116728C>A	ENST00000309664.5	+	13	1499	c.1360C>A	c.(1360-1362)Ccc>Acc	p.P454T	LMAN1L_ENST00000379709.3_Missense_Mutation_p.P442T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	454						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCTGGCCAGCCCCCAAGGGC	0.602		NA											False	0	True	15:75116728	0
RAPGEF3	10411	broad.mit.edu	37	12	48134500	48134500	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:48134500G>A	ENST00000405493.2	-	21	2239	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A719V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A719V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A677V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A677V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A628V	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	677					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CAGCTCGGTGGCCACCCAGTA	0.652		NA											False	0	False	12:48134500	0
LUZP1	7798	broad.mit.edu	37	1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	rs146031719	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478		NA											False	0	False	1:23418504	0
HMGCR	3156	broad.mit.edu	37	5	74650437	74650437	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:74650437C>T	ENST00000287936.4	+	12	1634	c.1478C>T	c.(1477-1479)tCt>tTt	p.S493F	HMGCR_ENST00000343975.5_Missense_Mutation_p.S493F|HMGCR_ENST00000511206.1_Missense_Mutation_p.S493F	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	493	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CGTGGTGTATCTATTCGCCGA	0.408		NA											False	0	False	5:74650437	0
SIPA1L1	26037	broad.mit.edu	37	14	72055518	72055518	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055518C>T	ENST00000555818.1	+	2	1277	c.929C>T	c.(928-930)tCa>tTa	p.S310L	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S310L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S310L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	310					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTTGGGAAGTCATCAGATCTT	0.418		NA											False	0	False	14:72055518	0
MURC	347273	broad.mit.edu	37	9	103340638	103340638	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:103340638C>T	ENST00000307584.5	+	1	278	c.213C>T	c.(211-213)gaC>gaT	p.D71D		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	71					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TCCAGATTGACCTGTTGAAGC	0.418		NA											False	0	False	9:103340638	0
MGAT4C	25834	broad.mit.edu	37	12	86374022	86374022	+	Missense_Mutation	SNP	G	G	A	rs140499591		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:86374022G>A	ENST00000604798.1	-	8	1686	c.482C>T	c.(481-483)gCg>gTg	p.A161V	MGAT4C_ENST00000332156.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000393205.2_Missense_Mutation_p.A190V|MGAT4C_ENST00000549405.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	161					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATATGGTGCGCAAATTTCTG	0.403		NA											False	0	False	12:86374022	0
PLEC	5339	broad.mit.edu	37	8	144993374	144993374	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:144993374G>A	ENST00000322810.4	-	32	11195	c.11026C>T	c.(11026-11028)Cgc>Tgc	p.R3676C	PLEC_ENST00000356346.3_Missense_Mutation_p.R3525C|PLEC_ENST00000436759.2_Missense_Mutation_p.R3566C|PLEC_ENST00000527096.1_Missense_Mutation_p.R3562C|PLEC_ENST00000345136.3_Missense_Mutation_p.R3539C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3543C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3517C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3507C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3539C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3676	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCAGAAGGCGCAAGCCCGTC	0.597		NA											False	0	False	8:144993374	0
DNAJC2	27000	broad.mit.edu	37	7	102960230	102960230	+	Missense_Mutation	SNP	T	T	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:102960230T>G	ENST00000379263.3	-	11	1395	c.1145A>C	c.(1144-1146)aAa>aCa	p.K382T	DNAJC2_ENST00000249270.7_Intron|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	382					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATCACAAAGTTTTTCCACTTC	0.353		NA											False	0	True	7:102960230	0
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662		NA											False	0	True	11:281566	0
CLINT1	9685	broad.mit.edu	37	5	157232960	157232960	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:157232960C>G	ENST00000523094.1	-	7	1007	c.802G>C	c.(802-804)Gat>Cat	p.D268H	CLINT1_ENST00000296951.5_Missense_Mutation_p.D268H|CLINT1_ENST00000523908.1_Missense_Mutation_p.D286H|CLINT1_ENST00000411809.2_Missense_Mutation_p.D286H|CLINT1_ENST00000530742.1_Missense_Mutation_p.D268H	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	286					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCAAGATCAATGGTTTTG	0.483		NA											False	0	False	5:157232960	0
FXR1	0	broad.mit.edu	37	3	180675681	180675681	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:180675681G>C	ENST00000357559.4	+	10	1339	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	FXR1_ENST00000480918.1_Missense_Mutation_p.E306Q|FXR1_ENST00000491062.1_Missense_Mutation_p.E270Q|FXR1_ENST00000445140.2_Missense_Mutation_p.E319Q|FXR1_ENST00000468861.1_Missense_Mutation_p.E234Q|FXR1_ENST00000305586.7_Missense_Mutation_p.E234Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	319					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGTGAGAATTGAAGGGGACAA	0.313		NA											False	0	False	3:180675681	0
CRYBB1	1414	broad.mit.edu	37	22	27003917	27003917	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:27003917C>T	ENST00000215939.2	-	4	498	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	123	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGTGTTCCAGCGAGGGTACTC	0.592		NA											False	0	False	22:27003917	0
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562		NA											False	0	False	1:54708959	0
GALNT6	11226	broad.mit.edu	37	12	51749736	51749736	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:51749736C>G	ENST00000543196.2	-	10	1814	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	GALNT6_ENST00000356317.3_Missense_Mutation_p.E537Q			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	537	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTTGTGTACTCAAAGTACTGG	0.547		NA											False	0	True	12:51749736	0
SSPO	23145	broad.mit.edu	37	7	149523658	149523658	+	RNA	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:149523658G>C	ENST00000378016.2	+	0	14572							A2VEC9	SSPO_HUMAN	SCO-spondin	NA					cell adhesion	extracellular space	peptidase inhibitor activity				NA	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCTGCCCTGGAGGGCAGGT	0.672		NA											False	0	False	7:149523658	0
RYR1	6261	broad.mit.edu	37	19	39075614	39075614	+	Missense_Mutation	SNP	G	G	A	rs118192151		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:39075614G>A	ENST00000355481.4	+	101	14794	c.14663G>A	c.(14662-14664)cGg>cAg	p.R4888Q	RYR1_ENST00000359596.3_Missense_Mutation_p.R4893Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R4888Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4893					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGGGTGTCCGGGCTGGCGGA	0.572		NA											False	0	True	19:39075614	0
CYP2C8	1558	broad.mit.edu	37	10	96802653	96802653	+	Silent	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:96802653G>T	ENST00000371270.3	-	7	1237	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	CYP2C8_ENST00000539050.1_Silent_p.I295I|CYP2C8_ENST00000535898.1_Silent_p.I279I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	381					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTACCTTGGGGATGAGGTAGT	0.453		NA											False	0	True	10:96802653	0
OR10J1	26476	broad.mit.edu	37	1	159410194	159410194	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:159410194G>T	ENST00000423932.3	+	1	683	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	216					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAGTGTGCTGGTGCTTGTTGT	0.453		NA											False	0	False	1:159410194	0
TMUB1	83590	broad.mit.edu	37	7	150779321	150779321	+	Silent	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:150779321G>T	ENST00000392818.3	-	2	687	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TMUB1_ENST00000482202.1_Silent_p.L110L|TMUB1_ENST00000297533.4_Silent_p.L110L|TMUB1_ENST00000462940.1_Silent_p.L110L|TMUB1_ENST00000476627.1_Silent_p.L110L	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	110	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAATCATTGAGGAATTTCA	0.607		NA											False	0	False	7:150779321	0
PPFIBP1	8496	broad.mit.edu	37	12	27832529	27832529	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:27832529G>C	ENST00000318304.8	+	19	2024	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D428H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D550H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D575H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	581					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCCATCTCCAGATTCCAAAAA	0.443		NA											False	0	False	12:27832529	0
NELL2	4753	broad.mit.edu	37	12	45169879	45169879	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45169879T>A	ENST00000429094.2	-	8	1321	c.817A>T	c.(817-819)Act>Tct	p.T273S	NELL2_ENST00000333837.4_Missense_Mutation_p.T296S|NELL2_ENST00000551601.1_Missense_Mutation_p.T272S|NELL2_ENST00000437801.2_Missense_Mutation_p.T323S|NELL2_ENST00000395487.2_Missense_Mutation_p.T272S|NELL2_ENST00000549027.1_Missense_Mutation_p.T272S|NELL2_ENST00000452445.2_Missense_Mutation_p.T273S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	273	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATGGTGCAAGTCCTTTCACAA	0.458		NA											False	0	False	12:45169879	0
ACRV1	56	broad.mit.edu	37	11	125548083	125548083	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:125548083A>G	ENST00000533904.1	-	2	504	c.162T>C	c.(160-162)gcT>gcC	p.A54A	ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000315608.3_Silent_p.A54A|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000527795.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000445562.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	54					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCTCATATAAAGCCTCAGCAT	0.463		NA											False	0	True	11:125548083	0
CXCR1	3577	broad.mit.edu	37	2	219029099	219029099	+	Missense_Mutation	SNP	C	C	T	rs56030518		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:219029099C>T	ENST00000295683.2	-	2	956	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	279					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GTTGTTGCGGCGCTCACAGCT	0.572		NA											False	0	False	2:219029099	0
SLC25A36	55186	broad.mit.edu	37	3	140692616	140692616	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:140692616G>A	ENST00000446041.2	+	6	736	c.511G>A	c.(511-513)Gat>Aat	p.D171N	SLC25A36_ENST00000324194.6_Missense_Mutation_p.D171N|SLC25A36_ENST00000453248.2_Missense_Mutation_p.D145N	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	171					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATCAGACAGATGGACTAAA	0.353		NA											False	0	True	3:140692616	0
COL6A2	0	broad.mit.edu	37	21	47532333	47532333	+	Silent	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:47532333C>A	ENST00000300527.4	+	3	660	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	COL6A2_ENST00000409416.1_Silent_p.R186R|COL6A2_ENST00000310645.5_Silent_p.R186R|COL6A2_ENST00000357838.4_Silent_p.R186R|COL6A2_ENST00000397763.1_Silent_p.R186R|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	186	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGGGCATCCGGCTCTTCGC	0.701		NA											False	0	False	21:47532333	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971111	0
FRAS1	80144	broad.mit.edu	37	4	79417989	79417989	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:79417989G>T	ENST00000264895.6	+	60	9429	c.8989G>T	c.(8989-8991)Gac>Tac	p.D2997Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2992	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TATCCACGATGACTCCATGTT	0.448		NA											False	0	False	4:79417989	0
SPANXD	64648	broad.mit.edu	37	X	140785811	140785811	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:140785811C>T	ENST00000370515.3	-	2	438	c.105G>A	c.(103-105)ccG>ccA	p.P35P		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D	NA										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCAGGTTGCGGGTCTGAGT	0.478		NA											False	0	True	X:140785811	0
TNC	3371	broad.mit.edu	37	9	117791711	117791711	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:117791711G>A	ENST00000350763.4	-	25	6508	c.6097C>T	c.(6097-6099)Cgc>Tgc	p.R2033C	TNC_ENST00000345230.3_Missense_Mutation_p.R1396C|TNC_ENST00000542877.1_Missense_Mutation_p.R1670C|TNC_ENST00000423613.2_Missense_Mutation_p.R1760C|TNC_ENST00000535648.1_Missense_Mutation_p.R1578C|TNC_ENST00000537320.1_Missense_Mutation_p.R1396C|TNC_ENST00000341037.4_Missense_Mutation_p.R1851C|TNC_ENST00000346706.3_Missense_Mutation_p.R1487C|TNC_ENST00000340094.3_Missense_Mutation_p.R1669C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2033	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAGTTCTCGCGTCCGTTTTTG	0.463		NA											False	0	False	9:117791711	0
RCCD1	91433	broad.mit.edu	37	15	91500894	91500894	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:91500894G>A	ENST00000394258.2	+	4	820	c.618G>A	c.(616-618)gcG>gcA	p.A206A	RCCD1_ENST00000556618.1_Silent_p.A206A|RCCD1_ENST00000555155.1_Silent_p.A206A|RCCD1_ENST00000556774.1_Intron	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	206										breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			TGTTGGAGGCGTTGCAGGGCC	0.607		NA											False	0	False	15:91500894	0
MADCAM1	8174	broad.mit.edu	37	19	501739	501739	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:501739G>A	ENST00000587541.1	+	2	935	c.81G>A	c.(79-81)ccG>ccA	p.P27P	MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000215637.3_Silent_p.P246P			Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	246	Ig-like 1.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCTCCCCGGAGTCTCCCG	0.682		NA											False	0	True	19:501739	0
PGLYRP3	114771	broad.mit.edu	37	1	153271680	153271680	+	Silent	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:153271680C>A	ENST00000290722.1	-	6	808	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	252					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTTCATACACGCCACCAT	0.458		NA											False	0	False	1:153271680	0
CD33	945	broad.mit.edu	37	19	51728379	51728379	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:51728379C>T	ENST00000436584.2	+	1	60	c.5C>T	c.(4-6)cCg>cTg	p.P2L	CD33_ENST00000391796.3_Missense_Mutation_p.P2L|CD33_ENST00000421133.2_Missense_Mutation_p.P2L|CD33_ENST00000262262.4_Missense_Mutation_p.P2L			P20138	CD33_HUMAN	CD33 molecule	2					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCAGACATGCCGCTGCTGCTA	0.652		NA											False	0	True	19:51728379	0
EXOC5	10640	broad.mit.edu	37	14	57698379	57698379	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:57698379C>G	ENST00000413566.2	-	11	1352	c.993G>C	c.(991-993)caG>caC	p.Q331H	EXOC5_ENST00000340918.7_Missense_Mutation_p.Q266H	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	331					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ACAAGAAAGTCTGTTTATCAG	0.343		NA											False	0	False	14:57698379	0
ZNF471	57573	broad.mit.edu	37	19	57036821	57036821	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:57036821A>T	ENST00000308031.5	+	5	1518	c.1385A>T	c.(1384-1386)aAg>aTg	p.K462M	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TATGAATGCAAGGAATGTGGG	0.378		NA											False	0	False	19:57036821	0
ARF1	375	broad.mit.edu	37	1	228285699	228285699	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:228285699C>T	ENST00000541182.1	+	5	793	c.531C>T	c.(529-531)ctC>ctT	p.L177L	ARF1_ENST00000272102.5_Silent_p.L177L|ARF1_ENST00000540651.1_Silent_p.L177L|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	177					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCAATCAGCTCCGGAACCAGA	0.602		NA											False	0	False	1:228285699	0
NRP2	8828	broad.mit.edu	37	2	206581077	206581077	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:206581077C>T	ENST00000360409.3	+	3	1203	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	NRP2_ENST00000417189.1_Missense_Mutation_p.R138C|NRP2_ENST00000412873.2_Missense_Mutation_p.R138C|NRP2_ENST00000540841.1_Missense_Mutation_p.R138C|NRP2_ENST00000357785.5_Missense_Mutation_p.R138C|NRP2_ENST00000357118.4_Missense_Mutation_p.R138C|NRP2_ENST00000355117.4_Missense_Mutation_p.R138C|NRP2_ENST00000272849.3_Missense_Mutation_p.R138C|NRP2_ENST00000540178.1_Missense_Mutation_p.R138C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	138	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTTCTCTCTGCGCTACGAGAT	0.617		NA											False	0	False	2:206581077	0
HSPG2	3339	broad.mit.edu	37	1	22186350	22186350	+	Silent	SNP	G	G	A	rs138980184	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:22186350G>A	ENST00000374695.3	-	41	5239	c.5160C>T	c.(5158-5160)agC>agT	p.S1720S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1720	Ig-like C2-type 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGGGTGCCGCTGGGCACAG	0.662		NA											False	0	False	1:22186350	0
SMCHD1	23347	broad.mit.edu	37	18	2739500	2739500	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:2739500G>C	ENST00000320876.6	+	27	3834	c.3496G>C	c.(3496-3498)Gag>Cag	p.E1166Q	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1166Q	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1166					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATGGGCCAAGAGCTTCAAGG	0.338		NA											False	0	False	18:2739500	0
MECOM	2122	broad.mit.edu	37	3	168845679	168845679	+	Silent	SNP	C	C	T	rs150481592		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:168845679C>T	ENST00000464456.1	-	4	1419	c.219G>A	c.(217-219)acG>acA	p.T73T	MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000468789.1_Silent_p.T73T|MECOM_ENST00000392736.3_Silent_p.T73T|MECOM_ENST00000472280.1_Silent_p.T73T|MECOM_ENST00000494292.1_Silent_p.T261T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCTGGATCGTGTGTATCT	0.388		NA											False	0	True	3:168845679	0
SHANK2	22941	broad.mit.edu	37	11	70333392	70333392	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:70333392G>A	ENST00000338508.4	-	32	3008	c.3009C>T	c.(3007-3009)gtC>gtT	p.V1003V	SHANK2_ENST00000423696.2_Silent_p.V623V|SHANK2_ENST00000409161.1_Silent_p.V406V|SHANK2_ENST00000449833.2_Silent_p.V407V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	623					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGGCGGGGACGTAGACGG	0.617		NA											False	0	True	11:70333392	0
DDC	1644	broad.mit.edu	37	7	50595897	50595897	+	Missense_Mutation	SNP	G	G	C	rs150760434		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:50595897G>C	ENST00000444124.2	-	6	852	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.R218G|DDC_ENST00000426377.1_Missense_Mutation_p.R140G|DDC_ENST00000380984.4_Missense_Mutation_p.R218G	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	218					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCAGACGCACGCATGGCGAAG	0.532		NA											False	0	True	7:50595897	0
CCDC147	159686	broad.mit.edu	37	10	106118265	106118265	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:106118265G>A	ENST00000369704.3	+	2	310	c.176G>A	c.(175-177)cGt>cAt	p.R59H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	59										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AATGAAAAGCGTCTGATGGCC	0.423		NA											False	0	False	10:106118265	0
LRRTM1	347730	broad.mit.edu	37	2	80529763	80529763	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:80529763G>A	ENST00000295057.3	-	2	1838	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L394L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	394						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCCGTCCGCGAGCGTGGTGG	0.716		NA								HNSCC(69;0.2)			False	0	False	2:80529763	0
ACAN	176	broad.mit.edu	37	15	89402244	89402244	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:89402244G>C	ENST00000439576.2	+	12	6802	c.6428G>C	c.(6427-6429)aGa>aCa	p.R2143T	ACAN_ENST00000561243.1_Missense_Mutation_p.R2143T|ACAN_ENST00000352105.7_Missense_Mutation_p.R2143T|ACAN_ENST00000559004.1_Missense_Mutation_p.R2143T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2143					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AACCTTGAGAGATCCTCTGGC	0.577		NA											False	0	True	15:89402244	0
ARHGAP4	393	broad.mit.edu	37	X	153187163	153187163	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:153187163C>T	ENST00000370028.3	-	2	224	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R33H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R56H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R56H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	56	FCH.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCAGCGCGGCGCCGCAT	0.697		NA											False	0	False	X:153187163	0
NTNG1	22854	broad.mit.edu	37	1	107961223	107961223	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:107961223T>A	ENST00000370067.1	+	6	1736	c.1109T>A	c.(1108-1110)aTa>aAa	p.I370K	NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.I370K|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370071.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370070.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370066.1_Missense_Mutation_p.I370K|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370065.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	378	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTTAATAGGATATGGCCGAAT	0.368		NA											False	0	False	1:107961223	0
PITPNM2	57605	broad.mit.edu	37	12	123470864	123470864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:123470864G>A	ENST00000280562.5	-	25	3947	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	PITPNM2_ENST00000542749.1_Nonsense_Mutation_p.Q1254*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.Q975*|PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.Q1254*			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TACTTCAGCTGCGCCAGGTGG	0.726		NA											False	0	False	12:123470864	0
FBN3	84467	broad.mit.edu	37	19	8190815	8190815	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:8190815C>T	ENST00000600128.1	-	22	3106	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	FBN3_ENST00000270509.2_Missense_Mutation_p.E898K|FBN3_ENST00000601739.1_Missense_Mutation_p.E898K			Q75N90	FBN3_HUMAN	fibrillin 3	898	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCAGGCCCTCTGGACACTCA	0.622		NA											False	0	False	19:8190815	0
RBP3	5949	broad.mit.edu	37	10	48387865	48387865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:48387865C>A	ENST00000224600.4	-	1	3126	c.3013G>T	c.(3013-3015)Gag>Tag	p.E1005*		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1005	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TTGGCATTCTCAGGGATATGG	0.597		NA											False	0	False	10:48387865	0
TUBB8P7	0	broad.mit.edu	37	16	90162224	90162224	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:90162224G>A	ENST00000567960.1	+	0	960				TUBB8P7_ENST00000564451.1_RNA						NA											NA						TTCAGGGGTCGCATGCCCATG	0.527		NA											False	0	False	16:90162224	0
NOTCH3	4854	broad.mit.edu	37	19	15271827	15271827	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:15271827C>T	ENST00000263388.2	-	33	6687	c.6612G>A	c.(6610-6612)ccG>ccA	p.P2204P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2204					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCGCTCCTGCGGGGAGACGG	0.741		NA											False	0	True	19:15271827	0
KIF20A	10112	broad.mit.edu	37	5	137518869	137518869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:137518869C>T	ENST00000394894.3	+	8	1070	c.844C>T	c.(844-846)Cga>Tga	p.R282*	KIF20A_ENST00000508792.1_Nonsense_Mutation_p.R264*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	282	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACAAGTCATCGATGGGCACA	0.498		NA											False	0	False	5:137518869	0
SPPL2B	56928	broad.mit.edu	37	19	2341000	2341000	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:2341000G>A	ENST00000452401.2	+	0	1021							Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B	NA						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				NA		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGTCTTCCGCAACGAGGAC	0.701		NA											False	0	False	19:2341000	0
NOSTRIN	115677	broad.mit.edu	37	2	169716142	169716142	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:169716142G>C	ENST00000444448.2	+	16	1821	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E392Q			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	392	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGGTGGAGGGAAAAGGTAAC	0.438		NA											False	0	True	2:169716142	0
PRKCQ	5588	broad.mit.edu	37	10	6470257	6470257	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:6470257G>A	ENST00000263125.5	-	18	2132	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.A615V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A553V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	678	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGCTCTGTCGGCAAATGACAG	0.458		NA											False	0	False	10:6470257	0
F12	2161	broad.mit.edu	37	5	176831274	176831274	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176831274G>A	ENST00000253496.3	-	9	989	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	314	Pro-rich.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATGAGTGGGACATGAAG	0.711		NA							Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	5:176831274	0
DNAH10	196385	broad.mit.edu	37	12	124332557	124332557	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:124332557G>A	ENST00000409039.3	+	32	5535	c.5510G>A	c.(5509-5511)gGc>gAc	p.G1837D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1837	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGGAACCGGCAAAACCGAG	0.552		NA											False	0	False	12:124332557	0
ERCC6	2074	broad.mit.edu	37	10	50678629	50678629	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:50678629T>C	ENST00000355832.5	-	18	3455	c.3377A>G	c.(3376-3378)aAt>aGt	p.N1126S	ERCC6_ENST00000542458.1_Missense_Mutation_p.N496S|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1126					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACATTCCCCATTTCCACTAAT	0.393		NA						Direct reversal of damage;Nucleotide excision repair (NER)					False	0	True	10:50678629	0
TTN	7273	broad.mit.edu	37	2	179597812	179597812	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179597812C>T	ENST00000589042.1	-	55	16315	c.16091G>A	c.(16090-16092)cGc>cAc	p.R5364H	TTN_ENST00000342992.6_Missense_Mutation_p.R4120H|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R5047H|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5047	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCACGTTGCGCAAGGGTTT	0.453		NA											False	0	False	2:179597812	0
PCDHB6	0	broad.mit.edu	37	5	140531689	140531689	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140531689G>A	ENST00000231136.1	+	1	1851	c.1851G>A	c.(1849-1851)gcG>gcA	p.A617A	PCDHB6_ENST00000543635.1_Silent_p.A481A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		617	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.672		NA											False	0	False	5:140531689	0
MORN3	283385	broad.mit.edu	37	12	122091031	122091031	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122091031C>T	ENST00000355329.3	-	4	768	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	200								p.D200Y(1)		breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CGGCCAAAGTCGATCATCGTC	0.607		NA											False	0	False	12:122091031	0
PCDHA13	0	broad.mit.edu	37	5	140263655	140263655	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140263655C>T	ENST00000289272.2	+	1	1802	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S601L|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1				NA										NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGATTCGGGCTACAAT	0.697		NA											False	0	True	5:140263655	0
OR1L4	254973	broad.mit.edu	37	9	125486388	125486388	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:125486388G>A	ENST00000259466.1	+	1	120	c.120G>A	c.(118-120)gcG>gcA	p.A40A		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A40A(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TACTCACTGCGGTGGGGAATG	0.517		NA											False	0	False	9:125486388	0
SCN3A	6328	broad.mit.edu	37	2	165997338	165997338	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:165997338C>T	ENST00000360093.3	-	13	2333	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	SCN3A_ENST00000283254.7_Silent_p.P614P|SCN3A_ENST00000409101.3_Silent_p.P614P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATGTCTGTGCGGCACAAACA	0.507		NA											False	0	False	2:165997338	0
CYP4F12	66002	broad.mit.edu	37	19	15806854	15806854	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:15806854C>T	ENST00000550308.1	+	10	1604	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	CYP4F12_ENST00000324632.10_Silent_p.L408L	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12	NA										NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACATTGTTCTCCCAGATGGCC	0.612		NA											False	0	True	19:15806854	0
HGFAC	3083	broad.mit.edu	37	4	3445871	3445871	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:3445871G>A	ENST00000382774.3	+	5	696	c.581G>A	c.(580-582)gGc>gAc	p.G194D	HGFAC_ENST00000511533.1_Missense_Mutation_p.G194D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	194	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCTTCACCGGCAAGGACTGC	0.687		NA											False	0	False	4:3445871	0
GRIK2	2898	broad.mit.edu	37	6	102516276	102516276	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:102516276C>T	ENST00000421544.1	+	16	3107	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R824C|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.R797C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	873					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAAGTGCCAGCGTCGGTTAAA	0.398		NA											False	0	False	6:102516276	0
RNF180	285671	broad.mit.edu	37	5	63509712	63509712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:63509712C>T	ENST00000389100.4	+	4	631	c.559C>T	c.(559-561)Cga>Tga	p.R187*	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Nonsense_Mutation_p.R187*	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	187						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCTGGAGGTGCGACCAACATA	0.453		NA											False	0	False	5:63509712	0
CLK4	57396	broad.mit.edu	37	5	178045614	178045614	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:178045614C>G	ENST00000316308.4	-	3	495	c.327G>C	c.(325-327)agG>agC	p.R109S	CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	109						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		GACTGCTTCTCCTGCTGCGGA	0.413		NA											False	0	False	5:178045614	0
SPG20	23111	broad.mit.edu	37	13	36886315	36886315	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:36886315A>G	ENST00000451493.1	-	8	1917	c.1700T>C	c.(1699-1701)gTt>gCt	p.V567A	SPG20_ENST00000355182.4_Missense_Mutation_p.V567A|SPG20_ENST00000438666.2_Missense_Mutation_p.V567A|SPG20_ENST00000494062.2_Missense_Mutation_p.V567A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	567					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTCTGCTGAAACATTGTTAAC	0.323		NA											False	0	True	13:36886315	0
TENM2	57451	broad.mit.edu	37	5	167627098	167627098	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:167627098C>T	ENST00000519204.1	+	16	3147	c.3029C>T	c.(3028-3030)gCg>gTg	p.A1010V	TENM2_ENST00000518659.1_Missense_Mutation_p.A1131V|TENM2_ENST00000403607.2_Missense_Mutation_p.A955V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1131V|TENM2_ENST00000520394.1_Missense_Mutation_p.A899V					teneurin transmembrane protein 2	NA											NA						AAGACAGATGCGTATGGCCAA	0.478		NA											False	0	False	5:167627098	0
RGS16	6004	broad.mit.edu	37	1	182569575	182569575	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:182569575G>A	ENST00000367558.5	-	5	609	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	154	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CCCCTGAGCCGCATCAAAGCA	0.602		NA											False	0	False	1:182569575	0
SLC6A10P	0	broad.mit.edu	37	16	32893924	32893924	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:32893924G>A	ENST00000330048.5	-	0	1333					NR_003083.2					NA											NA						GCTGGCACTGGCACAGTCTTC	0.607		NA											False	0	True	16:32893924	0
SHH	6469	broad.mit.edu	37	7	155604784	155604784	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:155604784G>A	ENST00000297261.2	-	1	183	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	11					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAGACGAGGACTAGCAGCA	0.657		NA											False	0	False	7:155604784	0
MND1	84057	broad.mit.edu	37	4	154318479	154318479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:154318479G>T	ENST00000240488.3	+	6	549	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	MND1_ENST00000504860.1_Nonsense_Mutation_p.E139*	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	154					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AGTTGTGGAAGAAATACGTAA	0.373		NA											False	0	True	4:154318479	0
RNF145	153830	broad.mit.edu	37	5	158596042	158596042	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:158596042C>T	ENST00000424310.2	-	8	1319	c.960G>A	c.(958-960)acG>acA	p.T320T	RNF145_ENST00000521606.2_Silent_p.T337T|RNF145_ENST00000520638.1_Silent_p.T334T|RNF145_ENST00000274542.2_Silent_p.T348T|RNF145_ENST00000519865.1_Silent_p.T320T|RNF145_ENST00000518802.1_Silent_p.T350T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	320						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGATTAACAGCGTTACTCCTT	0.383		NA											False	0	False	5:158596042	0
FSTL5	56884	broad.mit.edu	37	4	162307378	162307378	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:162307378A>T	ENST00000306100.5	-	16	2501	c.2065T>A	c.(2065-2067)Ttc>Atc	p.F689I	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.F688I|FSTL5_ENST00000536695.1_Missense_Mutation_p.F688I|FSTL5_ENST00000427802.2_Missense_Mutation_p.F679I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	689						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCACTATTGAACCCAATGACT	0.488		NA											False	0	True	4:162307378	0
NDUFB3	4709	broad.mit.edu	37	2	201943722	201943722	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:201943722A>G	ENST00000237889.4	+	2	440	c.117A>G	c.(115-117)aaA>aaG	p.K39K	NDUFB3_ENST00000454214.1_Silent_p.K39K|NDUFB3_ENST00000433898.1_Silent_p.K39K	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	39					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	TGGCTGCAAAAGGGCTAAGGG	0.393		NA											False	0	True	2:201943722	0
CELF3	11189	broad.mit.edu	37	1	151680404	151680404	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:151680404G>A	ENST00000290583.4	-	6	1287	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.S165L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	165	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CAGGCTGGACGAGGCACCCTG	0.647		NA											False	0	False	1:151680404	0
ME3	10873	broad.mit.edu	37	11	86158183	86158183	+	Missense_Mutation	SNP	C	C	T	rs15926		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:86158183C>T	ENST00000543262.1	-	12	1630	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	ME3_ENST00000393324.3_Missense_Mutation_p.R435H|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.R435H	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	435					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GATGATAGGGCGCTCGTGGAA	0.622		NA											False	0	True	11:86158183	0
SMARCE1	6605	broad.mit.edu	37	17	38787103	38787103	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:38787103C>T	ENST00000348513.6	-	10	1670	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	p.R297H(1)		large_intestine(1)	1		Breast(137;0.000812)				CTGCCTTTTGCGGGCCTGTTC	0.507		NA											False	0	True	17:38787103	0
CEP63	80254	broad.mit.edu	37	3	134278030	134278030	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278030C>T	ENST00000337090.3	+	14	1885	c.1712C>T	c.(1711-1713)aCt>aTt	p.T571I	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.T571I|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.T571I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	571					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAATAAAGACTGAGCACTAC	0.428		NA											False	0	False	3:134278030	0
GUCY2C	2984	broad.mit.edu	37	12	14766211	14766211	+	Missense_Mutation	SNP	C	C	T	rs118078831		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:14766211C>T	ENST00000261170.3	-	27	3198	c.3062G>A	c.(3061-3063)cGt>cAt	p.R1021H	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1021					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGCTTGCAAACGCTGTTGATT	0.413		NA											False	0	True	12:14766211	0
SENP5	205564	broad.mit.edu	37	3	196612958	196612958	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:196612958G>A	ENST00000323460.5	+	2	1155	c.906G>A	c.(904-906)cgG>cgA	p.R302R	SENP5_ENST00000445299.2_Silent_p.R302R|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	302					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTTCTTGTCGGCATCAGCCGT	0.532		NA											False	0	False	3:196612958	0
P2RY1	5028	broad.mit.edu	37	3	152553971	152553971	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:152553971A>T	ENST00000305097.3	+	1	1236	c.400A>T	c.(400-402)Aac>Tac	p.N134Y		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	134					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTCATGTGAACCTCTATGG	0.507		NA											False	0	False	3:152553971	0
KIAA1377	57562	broad.mit.edu	37	11	101833633	101833633	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:101833633A>T	ENST00000263468.8	+	6	2137	c.1867A>T	c.(1867-1869)Att>Ttt	p.I623F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I424F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	623							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGGTGCAGAAATTCCAAAGAC	0.318		NA											False	0	True	11:101833633	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221309	20221309	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:20221309C>G	ENST00000361479.5	+	3	1164	c.1096C>G	c.(1096-1098)Caa>Gaa	p.Q366E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q366E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	366					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAGAGGAATCAAGACAGAAG	0.502		NA											False	0	False	13:20221309	0
RP1L1	94137	broad.mit.edu	37	8	10470667	10470667	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:10470667C>T	ENST00000382483.3	-	4	1164	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	314					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTCATGCGGACCTTCTT	0.662		NA											False	0	False	8:10470667	0
CAMKK2	10645	broad.mit.edu	37	12	121698198	121698198	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:121698198G>A	ENST00000545538.1	-	1	147	c.81C>T	c.(79-81)ccC>ccT	p.P27P	CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000404169.3_Intron|CAMKK2_ENST00000324774.5_Intron|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000392473.2_Intron|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000402834.4_Intron			Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	0					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACGGATGGCGGGGGAGAAAA	0.552		NA											False	0	True	12:121698198	0
L3MBTL2	83746	broad.mit.edu	37	22	41625557	41625557	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:41625557G>A	ENST00000216237.5	+	16	2060	c.1902G>A	c.(1900-1902)ccG>ccA	p.P634P	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	634					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAAGAATCCCGCCCACTAAGA	0.542		NA											False	0	True	22:41625557	0
IFT140	9742	broad.mit.edu	37	16	1657152	1657152	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:1657152G>A	ENST00000426508.2	-	3	479	c.116C>T	c.(115-117)tCa>tTa	p.S39L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	39										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCTGCCTGTTGAGGTTGTGCT	0.522		NA											False	0	False	16:1657152	0
ZNF70	7621	broad.mit.edu	37	22	24086056	24086056	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:24086056G>A	ENST00000341976.3	-	2	1732	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	424						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGACTTGCCGCACAGATTGC	0.547		NA											False	0	False	22:24086056	0
LRP6	4040	broad.mit.edu	37	12	12300383	12300383	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:12300383A>G	ENST00000261349.4	-	15	3390	c.3314T>C	c.(3313-3315)aTt>aCt	p.I1105T	LRP6_ENST00000543091.1_Missense_Mutation_p.I1105T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1105	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCTAAAGCAATTGGTTTACT	0.453		NA											False	0	False	12:12300383	0
NLRP9	338321	broad.mit.edu	37	19	56243922	56243922	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:56243922G>A	ENST00000332836.2	-	2	1302	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	425	NACHT.		G -> D (in a breast cancer sample; somatic mutation).			cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCCACATCACGCCCTCAGACT	0.473		NA											False	0	True	19:56243922	0
CAND2	23066	broad.mit.edu	37	3	12858310	12858310	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:12858310C>T	ENST00000456430.2	+	10	1920	c.1879C>T	c.(1879-1881)Cgg>Tgg	p.R627W	CAND2_ENST00000295989.5_Missense_Mutation_p.R534W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	627					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.R534W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGATCACCCGGCTGCCCGC	0.632		NA											False	0	True	3:12858310	0
NTF3	4908	broad.mit.edu	37	12	5603958	5603958	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:5603958C>T	ENST00000423158.3	+	2	829	c.617C>T	c.(616-618)aCg>aTg	p.T206M	NTF3_ENST00000331010.6_Missense_Mutation_p.T193M|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	193					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TTTTATGAAACGCGATGTAAG	0.507		NA											False	0	True	12:5603958	0
NIPA2	81614	broad.mit.edu	37	15	23006789	23006789	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:23006789C>T	ENST00000337451.3	-	8	1127	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NIPA2_ENST00000398014.2_Missense_Mutation_p.R172H|NIPA2_ENST00000539711.2_Missense_Mutation_p.R153H|NIPA2_ENST00000359727.4_Missense_Mutation_p.R153H|NIPA2_ENST00000398013.3_Missense_Mutation_p.R172H	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	172						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CTGTCCATGGCGAGGACCCAC	0.468		NA											False	0	False	15:23006789	0
GRM8	0	broad.mit.edu	37	7	126410092	126410092	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:126410092G>A	ENST00000339582.2	-	7	1992	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GRM8_ENST00000444921.2_Missense_Mutation_p.S395F|GRM8_ENST00000358373.3_Missense_Mutation_p.S395F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.S395F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	395					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTGTTCATAAGATGAATCCCG	0.388		NA								HNSCC(24;0.065)			False	0	False	7:126410092	0
CES3	23491	broad.mit.edu	37	16	67006386	67006386	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:67006386C>T	ENST00000303334.4	+	11	1490	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	CES3_ENST00000394037.1_Silent_p.L473L|CES3_ENST00000543856.1_Silent_p.L112L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	473						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTCCCTTCCTCATGGACGAGA	0.592		NA											False	0	False	16:67006386	0
KDM1A	23028	broad.mit.edu	37	1	23376891	23376891	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23376891G>A	ENST00000400181.4	+	4	693	c.589G>A	c.(589-591)Gca>Aca	p.A197T	KDM1A_ENST00000542151.1_Missense_Mutation_p.A197T|KDM1A_ENST00000356634.3_Missense_Mutation_p.A177T|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	177	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTGGAGGGCGCAGCTTTCCA	0.468		NA											False	0	False	1:23376891	0
SIPA1L1	26037	broad.mit.edu	37	14	72055191	72055191	+	Nonsense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055191C>G	ENST00000555818.1	+	2	950	c.602C>G	c.(601-603)tCa>tGa	p.S201*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S201*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S201*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	201					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGACCATCACTGCACAGG	0.403		NA											False	0	False	14:72055191	0
SDK1	221935	broad.mit.edu	37	7	4089014	4089014	+	Silent	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:4089014A>G	ENST00000404826.2	+	18	2776	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E	SDK1_ENST00000389531.3_Silent_p.E879E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	879	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGACGGAAGCCGTGAACT	0.582		NA											False	0	False	7:4089014	0
NCAPH	23397	broad.mit.edu	37	2	97007560	97007560	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:97007560G>A	ENST00000455200.1	+	2	462	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Missense_Mutation_p.R67Q			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	67					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CGGCTGCAGCGGAGGCGCTCG	0.592		NA											False	0	False	2:97007560	0
HOXC11	3227	broad.mit.edu	37	12	54367152	54367152	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:54367152G>A	ENST00000546378.1	+	1	243	c.127G>A	c.(127-129)Gag>Aag	p.E43K	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E43K			O43248	HXC11_HUMAN	homeobox C11	43					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CTACATGCCCGAGTTCTCCAC	0.642		NA	T	NUP98	AML								False	0	True	12:54367152	0
UBR4	23352	broad.mit.edu	37	1	19420503	19420503	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19420503C>G	ENST00000375267.2	-	95	13880	c.13877G>C	c.(13876-13878)gGa>gCa	p.G4626A	UBR4_ENST00000543981.1_Missense_Mutation_p.G290A|UBR4_ENST00000429347.2_Missense_Mutation_p.G149A|UBR4_ENST00000375217.2_Missense_Mutation_p.G4619A|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375224.1_Missense_Mutation_p.G333A|UBR4_ENST00000375226.2_Missense_Mutation_p.G4602A|UBR4_ENST00000375254.3_Missense_Mutation_p.G4626A			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4626					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCCACCTCTCCAAAGGAAAG	0.468		NA											False	0	False	1:19420503	0
ELMOD1	55531	broad.mit.edu	37	11	107506439	107506439	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:107506439G>A	ENST00000265840.7	+	6	633	c.368G>A	c.(367-369)cGt>cAt	p.R123H	ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117H|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123H	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	123					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GAAAAACTGCGTAGAGAGGCC	0.433		NA											False	0	False	11:107506439	0
TTN	7273	broad.mit.edu	37	2	179412983	179412983	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179412983C>T	ENST00000589042.1	-	339	93594	c.93370G>A	c.(93370-93372)Gat>Aat	p.D31124N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28556N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22184N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22251N|TTN_ENST00000591111.1_Missense_Mutation_p.D29483N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22059N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29483	Ig-like 139.		A -> G.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTAGTATCAACAACATCA	0.483		NA											False	0	False	2:179412983	0
CACNA1E	777	broad.mit.edu	37	1	181724500	181724500	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:181724500C>G	ENST00000526775.1	+	27	4064	c.3899C>G	c.(3898-3900)aCg>aGg	p.T1300R	CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1251R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1270R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T926R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1300R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1319R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1319R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1319					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTTATTGCACGGACAGTTCC	0.453		NA											False	0	False	1:181724500	0
FGF7	2252	broad.mit.edu	37	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACATATGCATCAGCTAAAT	0.338		NA											False	0	False	15:49776572	0
PAXBP1	94104	broad.mit.edu	37	21	34132166	34132166	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:34132166T>C	ENST00000331923.4	-	6	1304	c.1115A>G	c.(1114-1116)aAt>aGt	p.N372S	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.N372S	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1	NA											NA						AGGGACTGTATTATCTGTTTT	0.398		NA											False	0	False	21:34132166	0
CR1	1378	broad.mit.edu	37	1	207790017	207790017	+	Silent	SNP	C	C	T	rs55775404		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:207790017C>T	ENST00000367049.4	+	41	6759	c.6759C>T	c.(6757-6759)tgC>tgT	p.C2253C	CR1_ENST00000400960.2_Silent_p.C1803C|CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1803					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTACGCATGCGACACCCACC	0.498		NA											False	0	False	1:207790017	0
CDH4	1002	broad.mit.edu	37	20	60448850	60448850	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:60448850G>A	ENST00000360469.5	+	7	1032	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R241Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGATGGTGCGGTACCGGATC	0.612		NA											False	0	False	20:60448850	0
TASP1	55617	broad.mit.edu	37	20	13514683	13514683	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:13514683C>T	ENST00000337743.4	-	9	901	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	261					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CCAACTCTCCCCGGATGTTTC	0.463		NA											False	0	True	20:13514683	0
CTD-2620I22.1	0	broad.mit.edu	37	19	53473659	53473659	+	RNA	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:53473659C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA						NA											NA						GGAAATTATTCCCATACTTAT	0.353		NA											False	0	True	19:53473659	0
SMAD9	4093	broad.mit.edu	37	13	37453546	37453546	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:37453546C>T	ENST00000379826.4	-	2	623	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SMAD9_ENST00000350148.5_Missense_Mutation_p.R94H|SMAD9_ENST00000399275.2_Missense_Mutation_p.R94H	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	94	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCGCCACACGCGACAGTAAAT	0.627		NA											False	0	False	13:37453546	0
JMY	133746	broad.mit.edu	37	5	78586970	78586970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:78586970C>T	ENST00000396137.4	+	4	1837	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	459					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGATCGAATGCGAGCTGATCA	0.358		NA											False	0	False	5:78586970	0
FBXL5	26234	broad.mit.edu	37	4	15629518	15629518	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:15629518G>C	ENST00000341285.3	-	7	1155	c.1031C>G	c.(1030-1032)tCc>tGc	p.S344C	FBXL5_ENST00000412094.2_Missense_Mutation_p.S327C|FBXL5_ENST00000382358.4_Missense_Mutation_p.S218C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	344					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATTTTGCTGGAAACTGCAGA	0.338		NA											False	0	True	4:15629518	0
LPHN1	22859	broad.mit.edu	37	19	14266197	14266197	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:14266197C>T	ENST00000340736.6	-	19	3580	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1095					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.V1095I(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGTGAAAGACGAAGATGAAG	0.587		NA											False	0	False	19:14266197	0
OR51A2	401667	broad.mit.edu	37	11	4976514	4976514	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:4976514C>T	ENST00000380371.1	-	1	429	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATTTGGGCAACTCTGACA	0.423		NA											False	0	True	11:4976514	0
LRP1B	53353	broad.mit.edu	37	2	141299402	141299402	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:141299402C>T	ENST00000389484.3	-	44	8304	c.7333G>A	c.(7333-7335)Gat>Aat	p.D2445N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2445					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGGAATATCGGAACGAAGA	0.388		NA								TSP Lung(27;0.18)			False	0	False	2:141299402	0
C8orf76	84933	broad.mit.edu	37	8	124253563	124253563	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:124253563G>A	ENST00000276704.4	-	1	75	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZHX1-C8ORF76_ENST00000357082.4_Intron|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	8							binding	p.F8L(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCGCCGCCGAACAACCAGC	0.716		NA											False	0	False	8:124253563	0
SLC25A46	91137	broad.mit.edu	37	5	110097039	110097039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:110097039G>T	ENST00000355943.3	+	8	940	c.814G>T	c.(814-816)Gga>Tga	p.G272*	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.G126*|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.G181*|SLC25A46_ENST00000509432.1_Nonsense_Mutation_p.G59*|SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.G110*	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	272					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGTGCTTCATGGAGTTCTTCA	0.433		NA											False	0	False	5:110097039	0
NNT	23530	broad.mit.edu	37	5	43651892	43651892	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:43651892A>G	ENST00000264663.5	+	13	1990	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	NNT_ENST00000344920.4_Missense_Mutation_p.D590G|NNT_ENST00000512996.2_Missense_Mutation_p.D459G	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	590					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CGTCCCACTGACCCCCCAGAA	0.463		NA											False	0	True	5:43651892	0
PRODH2	58510	broad.mit.edu	37	19	36303061	36303061	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36303061G>A	ENST00000301175.3	-	4	730	c.713C>T	c.(712-714)aCg>aTg	p.T238M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	238					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCAGCGCCGTCACCTTCAG	0.687		NA											False	0	False	19:36303061	0
VPS18	57617	broad.mit.edu	37	15	41192857	41192857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41192857G>A	ENST00000220509.5	+	4	2180	c.1841G>A	c.(1840-1842)tGg>tAg	p.W614*	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	614					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTAGATGCCTGGATTGAGATG	0.637		NA											False	0	False	15:41192857	0
NSUN3	63899	broad.mit.edu	37	3	93783283	93783283	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:93783283G>A	ENST00000314622.4	+	2	226	c.15G>A	c.(13-15)ctG>ctA	p.L5L	NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	5							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CGTCATAGCTGAAAGCAAAAT	0.353		NA											False	0	True	3:93783283	0
CYP19A1	0	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	390					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGTCCCCTTTTTCACTGG	0.413		NA											False	0	True	15:51504611	0
EIF4G1	1981	broad.mit.edu	37	3	184038482	184038482	+	Missense_Mutation	SNP	G	G	A	rs34838305	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:184038482G>A	ENST00000342981.4	+	7	1016	c.602G>A	c.(601-603)cGc>cAc	p.R201H	EIF4G1_ENST00000427845.1_Missense_Mutation_p.R114H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R208H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R201H|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R201H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R37H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R114H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R37H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R208H	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	201					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGGGGCCCGCACTGCCTCC	0.547		NA											False	0	True	3:184038482	0
ANO6	196527	broad.mit.edu	37	12	45814920	45814920	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45814920C>T	ENST00000320560.8	+	18	2486	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	ANO6_ENST00000423947.3_Missense_Mutation_p.P783S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.P762S|ANO6_ENST00000441606.2_Missense_Mutation_p.P744S|ANO6_ENST00000425752.2_Missense_Mutation_p.P762S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	762					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTCTCCGTCCCTCCCTACGG	0.473		NA											False	0	True	12:45814920	0
SCN5A	6331	broad.mit.edu	37	3	38592068	38592068	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:38592068G>A	ENST00000413689.1	-	28	5988	c.5795C>T	c.(5794-5796)gCg>gTg	p.A1932V	SCN5A_ENST00000425664.1_Missense_Mutation_p.A1914V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1931V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1932V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1899V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1914V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1931V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1878V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1932					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCGCTGCCCGCCTGCTGACG	0.622		NA											False	0	True	3:38592068	0
FAM86EP	0	broad.mit.edu	37	4	3944897	3944897	+	RNA	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:3944897A>G	ENST00000313946.8	-	0	1434										NA											NA						ATATTCTCCAAACATTCCAGT	0.448		NA											False	0	True	4:3944897	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274042	39274042	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:39274042G>T	ENST00000391413.2	-	1	564	c.526C>A	c.(526-528)Cgc>Agc	p.R176S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	176						keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTTGGGCGATAGCAAGTG	0.652		NA											False	0	False	17:39274042	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097										NA								p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463		NA											False	0	True	15:20644850	0
PAPLN	89932	broad.mit.edu	37	14	73732116	73732116	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:73732116C>T	ENST00000427855.1	+	23	3266	c.3164C>T	c.(3163-3165)gCc>gTc	p.A1055V	PAPLN_ENST00000554301.1_Missense_Mutation_p.A1055V|PAPLN_ENST00000340738.5_Missense_Mutation_p.A1028V|PAPLN_ENST00000555445.1_Missense_Mutation_p.A1039V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A1055V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1055	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTGGTGGATGCCAGTCCAGGC	0.667		NA											False	0	False	14:73732116	0
TBX5	6910	broad.mit.edu	37	12	114839668	114839668	+	Missense_Mutation	SNP	C	C	T	rs104894377		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:114839668C>T	ENST00000310346.4	-	3	871	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TBX5_ENST00000526441.1_Missense_Mutation_p.E69K|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.E19K|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	69					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E69K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGCCCACTTCGTGGAATTTT	0.463		NA											False	0	False	12:114839668	0
MAST2	23139	broad.mit.edu	37	1	46491369	46491369	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:46491369C>T	ENST00000361297.2	+	16	2084	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	MAST2_ENST00000372009.2_Silent_p.L531L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	601	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGCCACTCTGCTGAAGAATAT	0.547		NA											False	0	False	1:46491369	0
RREB1	6239	broad.mit.edu	37	6	7246974	7246974	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:7246974G>A	ENST00000379938.2	+	12	4828	c.4291G>A	c.(4291-4293)Gag>Aag	p.E1431K	RREB1_ENST00000334984.6_Intron|RREB1_ENST00000349384.6_Missense_Mutation_p.E1376K|RREB1_ENST00000379933.3_Missense_Mutation_p.E1376K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1376					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAAGCTGGCGGAGGGCGACGG	0.687		NA											False	0	False	6:7246974	0
ANKRD30B	374860	broad.mit.edu	37	18	14763729	14763729	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763729G>A	ENST00000358984.4	+	7	1045	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E289K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	289										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCTTGGCGGAAAGAACACC	0.478		NA											False	0	True	18:14763729	0
OSBPL11	114885	broad.mit.edu	37	3	125282595	125282595	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:125282595G>A	ENST00000296220.5	-	7	1250	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	321					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ACTGCCACCGGCTTACTCTGA	0.408		NA											False	0	False	3:125282595	0
SIPA1L1	26037	broad.mit.edu	37	14	72055521	72055521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055521C>A	ENST00000555818.1	+	2	1280	c.932C>A	c.(931-933)tCa>tAa	p.S311*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S311*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S311*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	311					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGAAGTCATCAGATCTTGAA	0.413		NA											False	0	False	14:72055521	0
ATP4A	495	broad.mit.edu	37	19	36043993	36043993	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36043993C>T	ENST00000262623.3	-	18	2725	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	899					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCTCCCACTGCGCCCGCAGCC	0.647		NA											False	0	False	19:36043993	0
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418		NA											False	0	False	13:50235160	0
TMEM26	219623	broad.mit.edu	37	10	63170318	63170318	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:63170318G>A	ENST00000399298.3	-	6	1237	c.869C>T	c.(868-870)gCc>gTc	p.A290V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GTTCTTCGCGGCAAAGAACAC	0.502		NA											False	0	False	10:63170318	0
IQCB1	9657	broad.mit.edu	37	3	121489398	121489398	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:121489398C>T	ENST00000310864.6	-	15	1805	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	IQCB1_ENST00000349820.6_Missense_Mutation_p.E398K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	531					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCTTTCCCTTCTGCCTCCTTC	0.517		NA											False	0	False	3:121489398	0
ATRNL1	26033	broad.mit.edu	37	10	117154220	117154220	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:117154220G>A	ENST00000355044.3	+	20	3353	c.3227G>A	c.(3226-3228)tGt>tAt	p.C1076Y	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.C127Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1076	Laminin EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACAGGAAAATGTTTCTGCACA	0.343		NA											False	0	True	10:117154220	0
NOTCH1	4851	broad.mit.edu	37	9	139412298	139412298	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:139412298G>A	ENST00000277541.6	-	8	1422	c.1347C>T	c.(1345-1347)tgC>tgT	p.C449C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	449	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCGATCTCGCATCGGGGGC	0.647		NA	"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139412298	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
CDHR2	54825	broad.mit.edu	37	5	176008451	176008451	+	Silent	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176008451C>G	ENST00000510636.1	+	17	2200	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L	CDHR2_ENST00000506348.1_Silent_p.L642L|CDHR2_ENST00000261944.5_Silent_p.L642L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	642	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAGGGCTCCTCAGAAACCTGG	0.627		NA											False	0	False	5:176008451	0
TTN	7273	broad.mit.edu	37	2	179641336	179641336	+	Missense_Mutation	SNP	C	C	T	rs150737838	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179641336C>T	ENST00000589042.1	-	28	5479	c.5255G>A	c.(5254-5256)cGt>cAt	p.R1752H	TTN_ENST00000342992.6_Missense_Mutation_p.R1752H|TTN_ENST00000360870.5_Missense_Mutation_p.R1752H|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN_ENST00000342175.6_Missense_Mutation_p.R1706H|TTN_ENST00000591111.1_Missense_Mutation_p.R1752H|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1505	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGATCATACGGAGCCTGTT	0.478		NA											False	0	False	2:179641336	0
PAXBP1	94104	broad.mit.edu	37	21	34132185	34132185	+	Missense_Mutation	SNP	T	T	C			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:34132185T>C	ENST00000331923.4	-	6	1285	c.1096A>G	c.(1096-1098)Aaa>Gaa	p.K366E	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.K366E	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1	NA											NA						TTTTGAGATTTGGCATCTGAT	0.388		NA											False	0	True	21:34132185	0
CEP63	80254	broad.mit.edu	37	3	134278028	134278028	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278028G>T	ENST00000337090.3	+	14	1883	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K570N|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K570N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	570					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGGAATAAAGACTGAGCACT	0.423		NA											False	0	True	3:134278028	0
KIAA1217	56243	broad.mit.edu	37	10	24825794	24825794	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:24825794G>A	ENST00000376451.2	+	12	2815	c.2555G>A	c.(2554-2556)gGc>gAc	p.G852D	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G852D|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1169D|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1133D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1134D|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G852D			Q5T5P2	SKT_HUMAN	KIAA1217	1169					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTAGGTCGGGCGCCACAGTG	0.512		NA											False	0	True	10:24825794	0
ESRP2	80004	broad.mit.edu	37	16	68265495	68265495	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:68265495G>A	ENST00000473183.2	-	11	1940	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	ESRP2_ENST00000565858.1_Missense_Mutation_p.R478C			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	478					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCTCGGAGGCGTACACAGTCC	0.622		NA											False	0	False	16:68265495	0
PTDSS2	81490	broad.mit.edu	37	11	473950	473950	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:473950G>A	ENST00000308020.5	+	3	516	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	114						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACAAGCTAAAGACGGGCCATT	0.483		NA											False	0	True	11:473950	0
SIPA1L1	26037	broad.mit.edu	37	14	72055165	72055165	+	Missense_Mutation	SNP	C	C	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055165C>G	ENST00000555818.1	+	2	924	c.576C>G	c.(574-576)atC>atG	p.I192M	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.I192M|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.I192M	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	192					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGAATGTATCTCACCTACAT	0.433		NA											False	0	False	14:72055165	0
MYLK3	91807	broad.mit.edu	37	16	46781922	46781922	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:46781922G>A	ENST00000394809.4	-	1	299	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	62					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.R62W(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGCAGGCCCCGCTCCAGGTGG	0.652		NA											False	0	True	16:46781922	0
DGKQ	1609	broad.mit.edu	37	4	954958	954958	+	Missense_Mutation	SNP	A	A	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:954958A>G	ENST00000273814.3	-	22	2679	c.2606T>C	c.(2605-2607)aTc>aCc	p.I869T		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	869					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAATCCGGATTCCGGAGCG	0.726		NA											False	0	False	4:954958	0
CEP72	55722	broad.mit.edu	37	5	633946	633946	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612		NA											False	0	False	5:633946	0
SLIT3	6586	broad.mit.edu	37	5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:168175367C>T	ENST00000519560.1	-	20	2629	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	737	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGCTGCATCGCACCACTGT	0.642		NA											False	0	False	5:168175367	0
MICU3	286097	broad.mit.edu	37	8	16963071	16963071	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:16963071G>A	ENST00000318063.5	+	11	1277	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3	NA								p.R412H(1)			NA						GAAAATGTGCGTTACAGTATA	0.318		NA											False	0	False	8:16963071	0
VPS25	84313	broad.mit.edu	37	17	40925889	40925889	+	Missense_Mutation	SNP	G	G	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:40925889G>T	ENST00000253794.2	+	2	232	c.192G>T	c.(190-192)aaG>aaT	p.K64N		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	64					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACAACGTCAAGCTACAGCGTA	0.607		NA											False	0	False	17:40925889	0
NF1	4763	broad.mit.edu	37	17	29665118	29665118	+	Silent	SNP	T	T	G			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29665118T>G	ENST00000358273.4	+	45	7163	c.6780T>G	c.(6778-6780)tcT>tcG	p.S2260S	NF1_ENST00000444181.2_Silent_p.S53S|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Silent_p.S2239S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2260					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACGAGTGTCTCATGGGCAGA	0.403		NA	"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			False	0	False	17:29665118	0
PCID2	55795	broad.mit.edu	37	13	113839829	113839829	+	Silent	SNP	C	C	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:113839829C>A	ENST00000375457.2	-	8	1103	c.507G>T	c.(505-507)ctG>ctT	p.L169L	PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000337344.4_Silent_p.L171L|PCID2_ENST00000246505.5_Silent_p.L225L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCTGGTTCACCAGAAACAGCA	0.353		NA											False	0	False	13:113839829	0
NOVA1	4857	broad.mit.edu	37	14	26917998	26917998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:26917998G>A	ENST00000539517.2	-	5	1008	c.691C>T	c.(691-693)Cga>Tga	p.R231*	NOVA1_ENST00000267422.7_Nonsense_Mutation_p.R109*|NOVA1_ENST00000465357.2_Nonsense_Mutation_p.R207*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	234	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ACAGCTTTTCGGTTTTGTTCA	0.473		NA											False	0	False	14:26917998	0
SOX14	8403	broad.mit.edu	37	3	137483748	137483748	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:137483748G>A	ENST00000306087.1	+	1	170	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	41					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						ATCAGCAAACGCCTAGGTGCC	0.597		NA											False	0	False	3:137483748	0
PTPRN2	5799	broad.mit.edu	37	7	157926573	157926573	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:157926573G>A	ENST00000389413.3	-	9	1455	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRN2_ENST00000389416.4_Missense_Mutation_p.T434M|PTPRN2_ENST00000389418.4_Missense_Mutation_p.T451M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.T474M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.T413M	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	451						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTTGGAATACGTCTGGCTCTT	0.612		NA											False	0	False	7:157926573	0
CLIP1	6249	broad.mit.edu	37	12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122825973G>A	ENST00000358808.2	-	10	1899	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000540338.1_Missense_Mutation_p.T593I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	593					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCCGTGGCGGTATACAGAGC	0.458		NA											False	0	False	12:122825973	0
ARHGEF15	22899	broad.mit.edu	37	17	8221919	8221919	+	Missense_Mutation	SNP	G	G	A	rs143720339		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:8221919G>A	ENST00000361926.3	+	11	1921	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R604H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	604					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAGGTGGGGCGCATGAAGCAG	0.612		NA											False	0	False	17:8221919	0
GPR97	222487	broad.mit.edu	37	16	57714440	57714440	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:57714440G>A	ENST00000333493.4	+	8	953	c.792G>A	c.(790-792)acG>acA	p.T264T	GPR97_ENST00000450388.3_Silent_p.T144T|GPR97_ENST00000327655.6_Silent_p.T54T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	264					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T264T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCAGTCCACGGTGCATATCC	0.587		NA											False	0	False	16:57714440	0
UBR4	23352	broad.mit.edu	37	1	19464627	19464627	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19464627G>A	ENST00000375267.2	-	60	8783	c.8780C>T	c.(8779-8781)cCg>cTg	p.P2927L	UBR4_ENST00000375217.2_Missense_Mutation_p.P2920L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2903L|UBR4_ENST00000375254.3_Missense_Mutation_p.P2927L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2927					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTCCAGCCGGATGCCCCTC	0.542		NA											False	0	False	1:19464627	0
GOLGA1	2800	broad.mit.edu	37	9	127644234	127644234	+	Splice_Site	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:127644234C>T	ENST00000373555.4	-	21	2299		c.e21-1			NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	NA						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTCTGATTTTCTGAAAAACCA	0.493		NA											False	0	True	9:127644234	0
CHD3	1107	broad.mit.edu	37	17	7797171	7797171	+	Missense_Mutation	SNP	G	G	A	rs139173826		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7797171G>A	ENST00000380358.4	+	6	1020	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	CHD3_ENST00000330494.7_Missense_Mutation_p.R281H|CHD3_ENST00000358181.4_Missense_Mutation_p.R281H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	281					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCTGATGGACGCAAGAAGCTT	0.542		NA											False	0	False	17:7797171	0
SEMA6D	80031	broad.mit.edu	37	15	48060897	48060897	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:48060897G>A	ENST00000316364.5	+	18	2324	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D629N|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D610N|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000389432.2_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	629					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGTTCAAGATGATCCAAACAC	0.433		NA											False	0	False	15:48060897	0
CBFA2T2	9139	broad.mit.edu	37	20	32232202	32232202	+	Missense_Mutation	SNP	A	A	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:32232202A>T	ENST00000492345.1	+	13	2163	c.1478A>T	c.(1477-1479)aAt>aTt	p.N493I	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N532I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.N522I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N522I|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N513I|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.N70I			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	522						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGTGGCTGCAATATCGCGCGA	0.602		NA											False	0	False	20:32232202	0
CYP2A6	1548	broad.mit.edu	37	19	41351245	41351245	+	Missense_Mutation	SNP	C	C	T	rs145036049	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41351245C>T	ENST00000301141.5	-	7	1135	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	372					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TTTGACTCTGCGGGCCAAACT	0.572		NA											False	0	True	19:41351245	0
NISCH	11188	broad.mit.edu	37	3	52523640	52523640	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:52523640C>T	ENST00000345716.4	+	17	3536	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V	NISCH_ENST00000479054.1_Silent_p.V1134V	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1134					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCGGCACGTCGCCAGCCTGC	0.672		NA											False	0	False	3:52523640	0
CES1	1066	broad.mit.edu	37	16	55862732	55862732	+	Silent	SNP	C	C	T	rs145950149		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:55862732C>T	ENST00000422046.2	-	2	485	c.204G>A	c.(202-204)ccG>ccA	p.P68P	CES1_ENST00000360526.3_Silent_p.P69P|CES1_ENST00000361503.4_Silent_p.P68P			P23141	EST1_HUMAN	carboxylesterase 1	68					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				NA				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTGCAGGCTGCGGTGGAGTAA	0.532		NA											False	0	False	16:55862732	0
LRIG3	121227	broad.mit.edu	37	12	59267907	59267907	+	Silent	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:59267907T>A	ENST00000320743.3	-	18	3331	c.3045A>T	c.(3043-3045)ctA>ctT	p.L1015L	LRIG3_ENST00000379141.4_Silent_p.L955L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1015						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGACTTGTTTAGACACAGAT	0.408		NA	T	ROS1	NSCLC								False	0	True	12:59267907	0
LIG3	3980	broad.mit.edu	37	17	33318808	33318808	+	Missense_Mutation	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33318808T>A	ENST00000378526.4	+	6	1293	c.1160T>A	c.(1159-1161)cTc>cAc	p.L387H	LIG3_ENST00000262327.5_Missense_Mutation_p.L387H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	387					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTGTCCAAGCTCACCAAGGAG	0.552		NA						Other BER factors					False	0	False	17:33318808	0
EMC1	23065	broad.mit.edu	37	1	19563697	19563697	+	Silent	SNP	T	T	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19563697T>A	ENST00000477853.1	-	12	1290	c.1248A>T	c.(1246-1248)tcA>tcT	p.S416S	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.S415S|EMC1_ENST00000375208.3_Silent_p.S394S	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1	NA											NA						GGTAGCCCACTGAGTCATCCT	0.483		NA											False	0	False	1:19563697	0
TNFAIP8L1	126282	broad.mit.edu	37	19	4652052	4652052	+	Silent	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:4652052G>A	ENST00000536716.1	+	2	317	c.171G>A	c.(169-171)caG>caA	p.Q57Q	TNFAIP8L1_ENST00000327473.4_Silent_p.Q57Q	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	57										endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGCCCAGAAGATGCTCA	0.662		NA											False	0	False	19:4652052	0
TJP1	7082	broad.mit.edu	37	15	30001114	30001114	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:30001114G>A	ENST00000346128.6	-	25	4973	c.4499C>T	c.(4498-4500)cCc>cTc	p.P1500L	TJP1_ENST00000545208.2_Missense_Mutation_p.P1420L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1500L|TJP1_ENST00000400011.2_Missense_Mutation_p.P1424L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1500					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACTTTTCTGGGGATAGAAAGC	0.438		NA											False	0	True	15:30001114	0
ALG12	79087	broad.mit.edu	37	22	50303671	50303671	+	Missense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:50303671C>T	ENST00000330817.6	-	5	808	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	NA					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACGATGATGGCGAAGGCTGAC	0.637		NA											False	0	False	22:50303671	0
C20orf96	140680	broad.mit.edu	37	20	257686	257686	+	Splice_Site	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.824C>T	c.(823-825)gCg>gTg	p.A275V	C20orf96_ENST00000382369.5_Splice_Site_p.A240V|C20orf96_ENST00000400269.3_Splice_Site_p.A217V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	275										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTACTCACCGCCACCACAGA	0.572		NA											False	0	False	20:257686	0
ANKRD30B	374860	broad.mit.edu	37	18	14763906	14763906	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763906G>A	ENST00000358984.4	+	7	1222	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E348K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	348										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAACATCTGAGAAATTTTC	0.393		NA											False	0	False	18:14763906	0
SIPA1L3	23094	broad.mit.edu	37	19	38682812	38682812	+	Silent	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:38682812C>T	ENST00000222345.6	+	17	4967	c.4458C>T	c.(4456-4458)gtC>gtT	p.V1486V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1486					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAAAAATGTCTTTGGGCAAC	0.522		NA											False	0	True	19:38682812	0
NF1	4763	broad.mit.edu	37	17	29652851	29652851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29652851C>T	ENST00000358273.4	+	37	5232	c.4849C>T	c.(4849-4851)Caa>Taa	p.Q1617*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1596*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1617	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAACTGGTCAAATCAATGG	0.323		NA	"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			False	0	True	17:29652851	0
DGCR8	54487	broad.mit.edu	37	22	20096497	20096497	+	Missense_Mutation	SNP	G	G	A			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:20096497G>A	ENST00000351989.3	+	13	2638	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	DGCR8_ENST00000383024.2_Missense_Mutation_p.E704K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E704K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	737	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAAGCTCCAAGAGGAGATGAA	0.577		NA											False	0	False	22:20096497	0
