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
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616		NA											False	2	True	X:107979510	0
MLPH	79083	broad.mit.edu	37	2	238449105	238449107	+	In_Frame_Del	DEL	GAA	GAA	-	rs2271809	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:238449105_238449107delGAA	ENST00000410032.1	+	8	1183_1185	c.790_792delGAA	c.(790-792)gaadel	p.E264del	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_In_Frame_Del_p.E339del|MLPH_ENST00000445024.2_In_Frame_Del_p.E407del|MLPH_ENST00000338530.4_In_Frame_Del_p.E379del|MLPH_ENST00000264605.3_In_Frame_Del_p.E407del			Q9BV36	MELPH_HUMAN	melanophilin	259							metal ion binding	p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CGAGGAGGAGGAAGCCAAGGACG	0.621		NA											False	1	True	2:238449105	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304		NA											False	1	True	5:115202418	0
RAD50	10111	broad.mit.edu	37	5	131953986	131953987	+	Splice_Site	DEL	AG	AG	-			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:131953986_131953987delAG	ENST00000265335.6	+	21	3776	c.3389delAG	c.(3388-3390)cag>cg	p.Q1130fs	RAD50_ENST00000378823.3_Splice_Site_p.Q991fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1130					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTCTTGACCAGTAAGTATTAG	0.292		NA						Homologous recombination					False	1	True	5:131953986	0
SLC39A12	221074	broad.mit.edu	37	10	18292166	18292166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:18292166delG	ENST00000377371.3	+	12	2021	c.1823delG	c.(1822-1824)agcfs	p.S609fs	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.S476fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.S573fs|SLC39A12_ENST00000377369.2_Frame_Shift_Del_p.S610fs			Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	610					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATTTTATAAGCTCCCTAACT	0.418		NA											False	1	False	10:18292166	0
TMEM215	401498	broad.mit.edu	37	9	32784266	32784266	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:32784266G>A	ENST00000342743.5	+	2	450	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	29						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CATGTTCACCGTCTCTGGGAT	0.582		NA											False	0	False	9:32784266	0
MYO16	23026	broad.mit.edu	37	13	109859074	109859074	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:109859074G>A	ENST00000356711.2	+	35	5593	c.5467G>A	c.(5467-5469)Gag>Aag	p.E1823K	MYO16_ENST00000357550.2_Missense_Mutation_p.E1823K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1823					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCACCACGCTGAGCCCAGGGT	0.602		NA											False	0	False	13:109859074	0
CNGA2	1260	broad.mit.edu	37	X	150912423	150912423	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	483					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					tacatttgccgcaaaggggac	0.527		NA											False	0	False	X:150912423	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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	17:7578395	0
MIOX	55586	broad.mit.edu	37	22	50926164	50926164	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:50926164G>A	ENST00000395732.3	+	3	192	c.170G>A	c.(169-171)aGg>aAg	p.R57K	MIOX_ENST00000216075.6_Missense_Mutation_p.R57K|MIOX_ENST00000395733.3_Missense_Mutation_p.R57K			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	57					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACTTCGTCAGGAGCAAGGTA	0.657		NA											False	0	False	22:50926164	0
XRCC1	7515	broad.mit.edu	37	19	44055781	44055781	+	Missense_Mutation	SNP	C	C	A	rs2271980		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:44055781C>A	ENST00000262887.5	-	10	1688	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L	XRCC1_ENST00000543982.1_Missense_Mutation_p.V350L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	381	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTACGCACGATGCGGCCT	0.622		NA						Other BER factors					False	0	False	19:44055781	0
ASPG	374569	broad.mit.edu	37	14	104570767	104570767	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:104570767G>A	ENST00000551177.1	+	8	972	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	ASPG_ENST00000455920.2_Missense_Mutation_p.V294I|ASPG_ENST00000546892.2_Missense_Mutation_p.V294I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	294	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CCTGGTCATCGTCAACTGTAC	0.657		NA											False	0	False	14:104570767	0
SPTA1	6708	broad.mit.edu	37	1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAG	0.478		NA											False	0	False	1:158592846	0
MAPKBP1	23005	broad.mit.edu	37	15	42109604	42109604	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:42109604G>A	ENST00000457542.2	+	15	2016	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R460H|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R583H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R416H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R577H	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	583										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGGCAAGTCCGCATGATCAGC	0.612		NA											False	0	False	15:42109604	0
FSD2	123722	broad.mit.edu	37	15	83438550	83438550	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:83438550T>C	ENST00000334574.8	-	8	1535	c.1354A>G	c.(1354-1356)Aac>Gac	p.N452D	FSD2_ENST00000541889.1_Intron			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	452	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCAGCCCTGTTGTGAGCTGTG	0.478		NA											False	0	False	15:83438550	0
SETD2	29072	broad.mit.edu	37	3	47098594	47098594	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr3:47098594G>A	ENST00000409792.3	-	15	6722	c.6680C>T	c.(6679-6681)cCa>cTa	p.P2227L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2227	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGCCACATGTGGCACCACTGG	0.552		NA	"""N, F, S, Mis"""		clear cell renal carcinoma								False	0	False	3:47098594	0
LGR4	55366	broad.mit.edu	37	11	27390249	27390249	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:27390249G>A	ENST00000379214.4	-	18	2464	c.2021C>T	c.(2020-2022)aCa>aTa	p.T674I	LGR4_ENST00000389858.4_Missense_Mutation_p.T650I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	674						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GCCTGCTACTGTAGCACCTAG	0.438		NA											False	0	False	11:27390249	0
DGCR2	9993	broad.mit.edu	37	22	19050735	19050735	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:19050735C>A	ENST00000545799.1	-	5	796	c.596G>T	c.(595-597)cGc>cTc	p.R199L	DGCR2_ENST00000537045.1_Missense_Mutation_p.R161L|DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000263196.7_Missense_Mutation_p.R202L			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	202	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CACCTCCCAGCGACCTTCCAA	0.587		NA											False	0	False	22:19050735	0
SYNPO2	171024	broad.mit.edu	37	4	119978661	119978661	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:119978661G>A	ENST00000307142.4	+	5	3554	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	SYNPO2_ENST00000448416.2_Silent_p.P121P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	774						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TAAACCAACCGATGGACTAGA	0.488		NA											False	0	True	4:119978661	0
RNF220	55182	broad.mit.edu	37	1	44878230	44878230	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:44878230G>A	ENST00000355387.2	+	2	911	c.461G>A	c.(460-462)cGc>cAc	p.R154H	RNF220_ENST00000361799.2_Missense_Mutation_p.R154H|RNF220_ENST00000372247.2_Missense_Mutation_p.R154H			Q5VTB9	RN220_HUMAN	ring finger protein 220	154					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCCCACTTGCGCTTCTCAGAT	0.537		NA											False	0	False	1:44878230	0
APOB	338	broad.mit.edu	37	2	21234547	21234547	+	Silent	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:21234547G>T	ENST00000233242.1	-	26	5320	c.5193C>A	c.(5191-5193)gtC>gtA	p.V1731V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1731					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTCTTGACTGACCTTGAAGT	0.453		NA											False	0	True	2:21234547	0
SNCB	6620	broad.mit.edu	37	5	176053513	176053513	+	Silent	SNP	A	A	G	rs111621148		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:176053513A>G	ENST00000310112.3	-	5	418	c.168T>C	c.(166-168)gcT>gcC	p.A56A	SNCB_ENST00000393693.2_Silent_p.A56A|SNCB_ENST00000506696.1_Silent_p.A56A|SNCB_ENST00000510387.1_Silent_p.A56A	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	56	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTTTTTTCAGCCACTGGAG	0.607		NA											False	0	False	5:176053513	0
KRBA1	84626	broad.mit.edu	37	7	149421894	149421894	+	Silent	SNP	A	A	G			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:149421894A>G	ENST00000255992.10	+	9	1479	c.1080A>G	c.(1078-1080)ggA>ggG	p.G360G	KRBA1_ENST00000485033.2_Silent_p.G360G|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.G360G	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	360										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCACTGGAGACACCAGAG	0.642		NA											False	0	False	7:149421894	0
AMZ2	51321	broad.mit.edu	37	17	66251858	66251858	+	Silent	SNP	C	C	T	rs138911562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:66251858C>T	ENST00000359904.3	+	6	1900	c.768C>T	c.(766-768)atC>atT	p.I256I	AMZ2_ENST00000580753.1_Silent_p.I256I|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000359783.4_Silent_p.I198I|AMZ2_ENST00000577866.1_Silent_p.I256I|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577985.1_Silent_p.I256I|AMZ2_ENST00000392720.2_Silent_p.I256I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	256							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCATGAGATCGGACACATAT	0.478		NA											False	0	False	17:66251858	0
TUBG1	7283	broad.mit.edu	37	17	40767013	40767013	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:40767013C>T	ENST00000251413.3	+	11	1372	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	437					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GAGTACCATGCGGCCACACGG	0.577		NA											False	0	False	17:40767013	0
KCNK10	54207	broad.mit.edu	37	14	88729828	88729828	+	Silent	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:88729828C>T	ENST00000340700.5	-	2	556	c.105G>A	c.(103-105)ccG>ccA	p.P35P	KCNK10_ENST00000319231.5_Silent_p.P40P|KCNK10_ENST00000312350.5_Silent_p.P40P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	35					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGTCGGAGCCGGAGCCGGGG	0.642		NA											False	0	True	14:88729828	0
FTMT	94033	broad.mit.edu	37	5	121187809	121187809	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:121187809G>A	ENST00000321339.1	+	1	160	c.151G>A	c.(151-153)Gca>Aca	p.A51T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	51					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCCCCTGGCCGCAGCCGCCTC	0.771		NA											False	0	False	5:121187809	0
LRP1	4035	broad.mit.edu	37	12	57598946	57598946	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:57598946G>A	ENST00000243077.3	+	73	11715	c.11249G>A	c.(11248-11250)cGg>cAg	p.R3750Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3750	LDL-receptor class A 31.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTCTGTGCCGGAACCAGCGC	0.637		NA											False	0	False	12:57598946	0
SAGE1	55511	broad.mit.edu	37	X	134989524	134989524	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:134989524G>A	ENST00000535938.1	+	9	1097	c.930G>A	c.(928-930)ccG>ccA	p.P310P	SAGE1_ENST00000370709.3_Silent_p.P310P|SAGE1_ENST00000324447.3_Silent_p.P310P|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	310										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGACCAACCGCAACCTAATA	0.408		NA											False	0	False	X:134989524	0
CERCAM	51148	broad.mit.edu	37	9	131186737	131186737	+	Missense_Mutation	SNP	C	C	T	rs143495365		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:131186737C>T	ENST00000372842.1	+	6	3520	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	CERCAM_ENST00000372838.4_Missense_Mutation_p.R204C			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	204					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAACCGCCAGCGCCGGGGCTG	0.647		NA											False	0	False	9:131186737	0
NAPG	8774	broad.mit.edu	37	18	10530778	10530778	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr18:10530778G>T	ENST00000322897.6	+	2	137	c.68G>T	c.(67-69)gGt>gTt	p.G23V	NAPG_ENST00000542979.1_Intron	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	23					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						CTGAAAACTGGTTTTTTAAAA	0.353		NA											False	0	True	18:10530778	0
NXNL1	115861	broad.mit.edu	37	19	17571500	17571500	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:17571500C>T	ENST00000301944.2	-	1	263	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	60	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						ATCTGTGAGCCGCACGAAGAA	0.612		NA											False	0	False	19:17571500	0
PCDHB5	0	broad.mit.edu	37	5	140516870	140516870	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:140516870G>A	ENST00000231134.5	+	1	2071	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		618	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATGTGGGCGCACAATGGCG	0.687		NA											False	0	False	5:140516870	0
LHCGR	3973	broad.mit.edu	37	2	48915275	48915275	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:48915275C>T	ENST00000294954.7	-	11	1682	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Silent_p.S317S|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTCTGGGTTTCGAACTGCAAA	0.368		NA											False	0	True	2:48915275	0
RSPO1	284654	broad.mit.edu	37	1	38079563	38079563	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:38079563C>T	ENST00000356545.2	-	7	1225	c.438G>A	c.(436-438)gcG>gcA	p.A146A	RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401069.1_Splice_Site_p.A146A|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401070.1_Intron	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	146					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACATTGCGCTGGCAGGA	0.617		NA											False	0	False	1:38079563	0
SCD5	79966	broad.mit.edu	37	4	83719510	83719510	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:83719510C>T	ENST00000319540.4	-	1	500	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	SCD5_ENST00000273908.4_Missense_Mutation_p.V61M|SCD5_ENST00000282709.4_Missense_Mutation_p.V61M	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	61					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				AGGGAGTACACGGCCCCCAAG	0.711		NA											False	0	False	4:83719510	0
HECW1	23072	broad.mit.edu	37	7	43484438	43484438	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:43484438C>T	ENST00000395891.2	+	11	2272	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	HECW1_ENST00000453890.1_Missense_Mutation_p.P556L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	NA					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCGAGACCCCGCGGACACAC	0.692		NA											False	0	True	7:43484438	0
SGK223	0	broad.mit.edu	37	8	8176529	8176529	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:8176529C>T	ENST00000520004.1	-	6	3620	c.3356G>A	c.(3355-3357)cGc>cAc	p.R1119H	SGK223_ENST00000330777.4_Missense_Mutation_p.R1119H			Q86YV5	SG223_HUMAN		1119	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				NA						GAAGCACACGCGCCGCTCGTA	0.667		NA											False	0	False	8:8176529	0
CUBN	8029	broad.mit.edu	37	10	16982060	16982060	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:16982060C>T	ENST00000377833.4	-	37	5584	c.5519G>A	c.(5518-5520)gGc>gAc	p.G1840D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1840	CUB 12.		G -> S (in dbSNP:rs2271462).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCCCGTGCCGCTGCCAGA	0.413		NA											False	0	False	10:16982060	0
VSTM4	196740	broad.mit.edu	37	10	50256523	50256523	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:50256523C>T	ENST00000332853.4	-	6	798	c.775G>A	c.(775-777)Gct>Act	p.A259T		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	NA						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCTCCTTACCTTTGGCAGGG	0.542		NA											False	0	True	10:50256523	0
RPL12	6136	broad.mit.edu	37	9	130213570	130213570	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:130213570C>A	ENST00000361436.5	-	1	114	c.27G>T	c.(25-27)gaG>gaT	p.E9D	RPL12_ENST00000536368.1_Missense_Mutation_p.E9D|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	9					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGACTTTGATCTCGTTGGGGT	0.642		NA											False	0	False	9:130213570	0
MAP4K4	9448	broad.mit.edu	37	2	102486181	102486181	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:102486181C>T	ENST00000413150.2	+	19	2118	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	MAP4K4_ENST00000350198.4_Missense_Mutation_p.T692M|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T576M|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T749M|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T572M|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T742M|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000347699.4_Missense_Mutation_p.T773M|MAP4K4_ENST00000324219.4_Missense_Mutation_p.T854M	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	773					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAGTCGGGGACGACGGATGAG	0.582		NA											False	0	False	2:102486181	0
RDM1	201299	broad.mit.edu	37	17	34257116	34257116	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:34257116G>A	ENST00000394529.3	-	1	657	c.171C>T	c.(169-171)tgC>tgT	p.C57C	RDM1_ENST00000293273.6_Silent_p.C80C|RDM1_ENST00000425909.3_Silent_p.C80C|RDM1_ENST00000430160.2_Silent_p.C57C|RDM1_ENST00000591402.1_Silent_p.C57C|RDM1_ENST00000419453.2_Silent_p.C57C|RDM1_ENST00000394527.1_Silent_p.C57C|RDM1_ENST00000394528.3_Silent_p.C80C|RDM1_ENST00000431884.2_Silent_p.C80C	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	80	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM.				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTTCCGGTCGCATGCCTTTT	0.483		NA						Other identified genes with known or suspected DNA repair function					False	0	False	17:34257116	0
BAI2	576	broad.mit.edu	37	1	32196581	32196581	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:32196581G>A	ENST00000373658.3	-	29	4541	c.4200C>T	c.(4198-4200)tcC>tcT	p.S1400S	BAI2_ENST00000527361.1_Silent_p.S1367S|BAI2_ENST00000440175.2_Silent_p.S1009S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Silent_p.S1367S|BAI2_ENST00000398547.1_Silent_p.S1333S|BAI2_ENST00000398542.1_Silent_p.S1300S|BAI2_ENST00000398556.3_Silent_p.S1315S|BAI2_ENST00000398538.1_Silent_p.S1388S|BAI2_ENST00000373655.2_Silent_p.S1400S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1400					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGGTCCACGGACAGGAAGC	0.692		NA											False	0	False	1:32196581	0
TTN	7273	broad.mit.edu	37	2	179444687	179444687	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:179444687G>A	ENST00000589042.1	-	318	67551	c.67327C>T	c.(67327-67329)Cgt>Tgt	p.R22443C	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19875C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13503C|TTN_ENST00000460472.2_Missense_Mutation_p.R13378C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13570C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20802C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20802	Ig-like 116.						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)			ACAGCATCACGAGTTTCACCG	0.413		NA											False	0	False	2:179444687	0
ALX4	60529	broad.mit.edu	37	11	44296947	44296947	+	Missense_Mutation	SNP	G	G	A	rs145166164	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:44296947G>A	ENST00000329255.3	-	2	831	c.728C>T	c.(727-729)gCg>gTg	p.A243V		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	243					hair follicle development			p.A243E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGTTCCCGCGCATACACGTC	0.617		NA											False	0	False	11:44296947	0
ATG2B	55102	broad.mit.edu	37	14	96779761	96779761	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:96779761G>T	ENST00000359933.4	-	24	4547	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1218										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAATATTCAAGAAGTATAAAA	0.303		NA											False	0	False	14:96779761	0
CDH23	64072	broad.mit.edu	37	10	73485201	73485201	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:73485201G>A	ENST00000224721.6	+	29	3523	c.3518G>A	c.(3517-3519)cGg>cAg	p.R1173Q	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1168	Cadherin 11.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCCTGGACCGGGAGCGGAAC	0.652		NA											False	0	True	10:73485201	0
WDR62	284403	broad.mit.edu	37	19	36572414	36572414	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:36572414G>T	ENST00000401500.2	+	10	1348	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L	WDR62_ENST00000388999.3_Missense_Mutation_p.R438L|WDR62_ENST00000270301.7_Missense_Mutation_p.R438L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	438					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACACCATTCGCTTCTGGAAC	0.463		NA											False	0	False	19:36572414	0
PDXDC2P	0	broad.mit.edu	37	16	70030060	70030060	+	RNA	SNP	T	T	C			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:70030060T>C	ENST00000531894.1	-	0	1716					NR_003610.1					NA											NA						GGACAGGAACTGTGGGGTCAG	0.502		NA											False	0	False	16:70030060	0
RREB1	6239	broad.mit.edu	37	6	7229269	7229269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229269C>T	ENST00000379938.2	+	10	1474	c.937C>T	c.(937-939)Caa>Taa	p.Q313*	RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q313*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q313*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q313*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	313					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)				CATCAGCGAGCAACACCGTTT	0.522		NA											False	0	False	6:7229269	0
CATSPERG	57828	broad.mit.edu	37	19	38858385	38858385	+	Missense_Mutation	SNP	G	G	A	rs147603617		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:38858385G>A	ENST00000409235.3	+	25	3014	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	967					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTGAGGACGAAATCTACCG	0.592		NA											False	0	True	19:38858385	0
PTGER2	5732	broad.mit.edu	37	14	52781689	52781689	+	Silent	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:52781689C>T	ENST00000245457.5	+	1	577	c.423C>T	c.(421-423)ccC>ccT	p.P141P	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	141						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TCGGGCACCCCTACTTCTACC	0.642		NA											False	0	True	14:52781689	0
ACSL4	2182	broad.mit.edu	37	X	108924283	108924283	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:108924283C>T	ENST00000340800.2	-	7	1226	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ACSL4_ENST00000348502.6_Missense_Mutation_p.G200E|ACSL4_ENST00000469796.2_Missense_Mutation_p.G241E	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	241					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AATCTCAAATCCTTCAGGGTA	0.343		NA											False	0	False	X:108924283	0
CSMD1	64478	broad.mit.edu	37	8	4494899	4494899	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:4494899G>A	ENST00000602557.1	-	2	822	c.267C>T	c.(265-267)taC>taT	p.Y89Y	CSMD1_ENST00000539096.1_Silent_p.Y89Y|CSMD1_ENST00000520002.1_Silent_p.Y89Y|CSMD1_ENST00000537824.1_Silent_p.Y89Y|CSMD1_ENST00000602723.1_Silent_p.Y89Y|CSMD1_ENST00000400186.3_Silent_p.Y89Y|CSMD1_ENST00000542608.1_Silent_p.Y89Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	89	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTCCATCGTAAACTGATA	0.378		NA											False	0	False	8:4494899	0
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552		NA											False	0	False	16:84476138	0
MTUS2	23281	broad.mit.edu	37	13	29599068	29599068	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:29599068T>A	ENST00000431530.3	+	1	321	c.263T>A	c.(262-264)tTt>tAt	p.F88Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	78						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATAAGGAATTTCACCAACTT	0.453		NA											False	0	True	13:29599068	0
TRIM51HP	0	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2					NA											NA						CACTGAGCAACAACTGCCATG	0.488		NA											False	0	False	11:55065601	0
MPG	4350	broad.mit.edu	37	16	133094	133094	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:133094G>A	ENST00000219431.4	+	4	590	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MPG_ENST00000397817.1_Missense_Mutation_p.R103H	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	120			R -> C (in dbSNP:rs2308313).		depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCCGAGGCCGCATCGTGGAG	0.637		NA						Base excision repair (BER), DNA glycosylases					False	0	False	16:133094	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111										NA								p.L368P(6)			NA						TTGCAGTATCTTCAGAGTCTG	0.328		NA											False	0	False	16:29110438	0
ZNF254	9534	broad.mit.edu	37	19	24309885	24309885	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393		NA											False	0	False	19:24309885	0
FAT2	2196	broad.mit.edu	37	5	150932824	150932824	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:150932824G>A	ENST00000261800.5	-	5	4082	c.4070C>T	c.(4069-4071)aCg>aTg	p.T1357M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1357	Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCATGACCGTAAAGCTGTA	0.587		NA											False	0	False	5:150932824	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100466468	100466468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:100466468C>T	ENST00000279907.7	-	12	1743	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D161N|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D511N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	511										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCCTTTCCATCTGGATAGTAA	0.274		NA											False	0	False	12:100466468	0
MOS	4342	broad.mit.edu	37	8	57025548	57025548	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:57025548G>A	ENST00000311923.1	-	1	993	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	332	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAAAGCAGCCGCGCGCTCGGC	0.572		NA											False	0	True	8:57025548	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_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
FLT1	2321	broad.mit.edu	37	13	28979946	28979946	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:28979946G>A	ENST00000282397.4	-	11	1773	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	FLT1_ENST00000541932.1_Missense_Mutation_p.R508C|FLT1_ENST00000539099.1_Missense_Mutation_p.R508C	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	508	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATTGCCATGCGCTGAGTGATG	0.368		NA											False	0	False	13:28979946	0
UBE4B	10277	broad.mit.edu	37	1	10197233	10197233	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:10197233G>A	ENST00000377157.3	+	16	2659	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	UBE4B_ENST00000343090.6_Missense_Mutation_p.R778H|UBE4B_ENST00000253251.8_Missense_Mutation_p.R649H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	778					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGCTATATCCGCAGACTCCGG	0.527		NA											False	0	False	1:10197233	0
CXorf21	80231	broad.mit.edu	37	X	30577641	30577641	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:30577641A>T	ENST00000378962.3	-	3	1154	c.832T>A	c.(832-834)Ttg>Atg	p.L278M		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	278										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GTTGACATCAATTGCAATAGG	0.398		NA											False	0	False	X:30577641	0
KMT2B	9757	broad.mit.edu	37	19	36216703	36216703	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:36216703G>A	ENST00000420124.1	+	13	3869	c.3869G>A	c.(3868-3870)cGc>cAc	p.R1290H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.R1290H					lysine (K)-specific methyltransferase 2B	NA											NA						CGGGCCACGCGCAAACGGCGC	0.607		NA											False	0	False	19:36216703	0
SPHKAP	80309	broad.mit.edu	37	2	228882781	228882781	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:228882781G>A	ENST00000392056.3	-	7	2835	c.2789C>T	c.(2788-2790)gCg>gTg	p.A930V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	930	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.A930V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAATTCTTCCGCAAAGTCTGT	0.473		NA											False	0	False	2:228882781	0
AOC3	8639	broad.mit.edu	37	17	41006599	41006599	+	Missense_Mutation	SNP	G	G	A	rs151291423		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:41006599G>A	ENST00000308423.2	+	2	1895	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	AOC3_ENST00000591562.1_Missense_Mutation_p.V36M	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	579					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGCCTTCCTCGTGGGAAGCGC	0.652		NA											False	0	False	17:41006599	0
CHSY3	337876	broad.mit.edu	37	5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	rs140992502		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGCTCAGCCGCAAAATTTCT	0.478		NA											False	0	False	5:129520070	0
RREB1	6239	broad.mit.edu	37	6	7229268	7229268	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229268G>T	ENST00000379938.2	+	10	1473	c.936G>T	c.(934-936)gaG>gaT	p.E312D	RREB1_ENST00000379933.3_Missense_Mutation_p.E312D|RREB1_ENST00000349384.6_Missense_Mutation_p.E312D|RREB1_ENST00000334984.6_Missense_Mutation_p.E312D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	312					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)				GCATCAGCGAGCAACACCGTT	0.522		NA											False	0	False	6:7229268	0
CUBN	8029	broad.mit.edu	37	10	17145151	17145151	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:17145151G>A	ENST00000377833.4	-	13	1568	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	501	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATAACCCAGAAGCAGTTAA	0.358		NA											False	0	False	10:17145151	0
SMOC1	64093	broad.mit.edu	37	14	70418995	70418995	+	Silent	SNP	C	C	T	rs111874562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:70418995C>T	ENST00000381280.4	+	2	493	c.240C>T	c.(238-240)ggC>ggT	p.G80G	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.G80G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	80	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGACCCTGGGCGTGGTGCATC	0.597		NA											False	0	True	14:70418995	0
FREM2	341640	broad.mit.edu	37	13	39425162	39425162	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:39425162G>A	ENST00000280481.7	+	10	6875	c.6659G>A	c.(6658-6660)gGc>gAc	p.G2220D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2220	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTACTCGGCACTCCACAA	0.468		NA											False	0	False	13:39425162	0
