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
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638		NA											False	1	False	12:49445039	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	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
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs6425573		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316		NA											False	1	True	1:179504035	0
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs112129664	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:46279864_46279866delCAA	ENST00000372004.3	+	20	3994_3996	c.3778_3780delCAA	c.(3778-3780)caadel	p.Q1272del	NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1276	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gcagcagcagcaacagcaacagc	0.567		NA											False	1	True	20:46279864	0
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	TGCTGCG	TGCTGCG	-	-	TGCTGCG	TGCTGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527		NA											False	1	False	1:248616705	0
CROCCP2	0	broad.mit.edu	37	1	16946455	16946456	+	RNA	INS	-	-	GCTCACGCTGCA			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:16946455_16946456insGCTCACGCTGCA	ENST00000412962.1	-	0	1063_1064										NA											NA						CAGCTCCTCCTGCTCACGCTGC	0.678		NA											False	0	False	1:16946455	0
PRKRA	8575	broad.mit.edu	37	2	179309229	179309229	+	Splice_Site	DEL	T	T	-			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:179309229delT	ENST00000325748.4	-	4	518		c.e4-2		PRKRA_ENST00000432031.2_Splice_Site|PRKRA_ENST00000487082.1_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	NA					immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACTGCAAAGCTAAATATTTTT	0.338		NA											False	1	True	2:179309229	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	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
ATP11B	23200	broad.mit.edu	37	3	182577061	182577085	+	Frame_Shift_Del	DEL	ATTGGCTGGGATCTTGATCTGTATC	ATTGGCTGGGATCTTGATCTGTATC	-	rs148742494		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	ATTGGCTGGGATCTTGATCTGTATC	ATTGGCTGGGATCTTGATCTGTATC	-	-	ATTGGCTGGGATCTTGATCTGTATC	ATTGGCTGGGATCTTGATCTGTATC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:182577061_182577085delATTGGCTGGGATCTTGATCTGTATC	ENST00000323116.5	+	12	1374_1398	c.1114_1138delATTGGCTGGGATCTTGATCTGTATC	c.(1114-1140)attggctgggatcttgatctgtatcatfs	p.IGWDLDLYH372fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	372					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCATTTTTTATTGGCTGGGATCTTGATCTGTATCATGAAGAATC	0.333		NA											False	1	False	3:182577061	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>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
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
TPTE	7179	broad.mit.edu	37	21	10970018	10970018	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:10970018G>A	ENST00000298232.7	-	6	477	c.110C>T	c.(109-111)gCg>gTg	p.A37V	TPTE_ENST00000361285.4_Missense_Mutation_p.A37V|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	37					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTTCTTTCGCAGGTGCCTC	0.413		NA											False	0	True	21:10970018	0
SLC6A9	6536	broad.mit.edu	37	1	44468618	44468618	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:44468618A>G	ENST00000372310.3	-	6	795	c.630T>C	c.(628-630)ttT>ttC	p.F210F	SLC6A9_ENST00000537678.1_Silent_p.F145F|SLC6A9_ENST00000360584.2_Silent_p.F283F|SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000372307.3_Silent_p.F145F|SLC6A9_ENST00000475075.2_Silent_p.F99F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	283						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCACCTCCCCAAAGTTCCCAA	0.592		NA											False	0	True	1:44468618	0
AKAP12	9590	broad.mit.edu	37	6	151671678	151671678	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:151671678G>A	ENST00000402676.2	+	4	2392	c.2152G>A	c.(2152-2154)Gga>Aga	p.G718R	AKAP12_ENST00000354675.6_Missense_Mutation_p.G620R|AKAP12_ENST00000253332.1_Missense_Mutation_p.G718R|AKAP12_ENST00000359755.5_Missense_Mutation_p.G613R	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	718					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGATGAGGCCGGAAAAGACAA	0.552		NA											False	0	False	6:151671678	0
EPHB1	2047	broad.mit.edu	37	3	134873067	134873067	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557		NA											False	0	False	3:134873067	0
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294		NA											False	0	False	9:70871889	0
ADAMTS20	80070	broad.mit.edu	37	12	43860592	43860592	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:43860592A>G	ENST00000389420.3	-	9	1229	c.1230T>C	c.(1228-1230)ggT>ggC	p.G410G	ADAMTS20_ENST00000553158.1_Silent_p.G410G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	410	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGTTGAACACCAAGTCTAA	0.294		NA											False	0	False	12:43860592	0
GMPR	2766	broad.mit.edu	37	6	16279069	16279069	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:16279069C>T	ENST00000259727.4	+	6	716	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	201					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CAGCTGAGTGCCGTCATTGAG	0.592		NA											False	0	False	6:16279069	0
CACNA1E	777	broad.mit.edu	37	1	181690939	181690939	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:181690939C>T	ENST00000526775.1	+	16	2167	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	668					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R668C(2)		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						CAATGGGATCCGCTCCCAGGG	0.507		NA											False	0	False	1:181690939	0
IGHV1OR15-9	0	broad.mit.edu	37	15	20169960	20169960	+	RNA	SNP	G	G	A	rs150674714	by1000genomes	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:20169960G>A	ENST00000338912.5	-	0	311										NA											NA						CAGATCTCAGGCTGCTTAGCT	0.527		NA											False	0	False	15:20169960	0
LCT	3938	broad.mit.edu	37	2	136575286	136575286	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	444	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCGGAGGCCGCAAAGCAGGG	0.647		NA											False	0	False	2:136575286	0
SYNE2	23224	broad.mit.edu	37	14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64685207C>T	ENST00000357395.3	+	109	19864	c.8720C>T	c.(8719-8721)gCc>gTc	p.A2907V	SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6522					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGGACTGGCCGGTATCACA	0.527		NA											False	0	False	14:64685207	0
PALM2	114299	broad.mit.edu	37	9	112694261	112694261	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:112694261G>A	ENST00000448454.2	+	7	455	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q|PALM2_ENST00000483909.1_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|PALM2_ENST00000374531.2_Intron					paralemmin 2	NA										breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTCTGTTCACGAACAGCAGAA	0.537		NA											False	0	False	9:112694261	0
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612		NA											False	0	False	6:30954349	0
GTPBP8	29083	broad.mit.edu	37	3	112710121	112710121	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:112710121G>A	ENST00000383677.3	+	1	290	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GTPBP8_ENST00000383678.2_Missense_Mutation_p.R92H	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	92					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GAACGGAACCGCATCGACTAC	0.647		NA											False	0	False	3:112710121	0
CKAP2L	150468	broad.mit.edu	37	2	113514269	113514269	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113514269A>C	ENST00000541405.1	-	4	707	c.184T>G	c.(184-186)Ttg>Gtg	p.L62V	CKAP2L_ENST00000302450.6_Missense_Mutation_p.L227V			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	227			N -> S (in dbSNP:rs17042344).			centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTTTGCCCAAGGCTTGTTTA	0.373		NA											False	0	False	2:113514269	0
RAB10	10890	broad.mit.edu	37	2	26257554	26257554	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:26257554T>C	ENST00000264710.4	+	1	576	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	26					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGCGTCCTTTTTCGTTTT	0.537		NA											False	0	True	2:26257554	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733503	56733503	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733503T>C	ENST00000587340.1	-	7	1627	c.932A>G	c.(931-933)gAg>gGg	p.E311G	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E194G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E311G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E310G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E165G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	311					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTTGAGGCTCTTCTTGGGA	0.547		NA											False	0	False	19:56733503	0
ST5	6764	broad.mit.edu	37	11	8751522	8751522	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:8751522G>A	ENST00000534127.1	-	6	1700	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R439C|ST5_ENST00000313726.6_Missense_Mutation_p.R439C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	439	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGGTGACCACGCATGTCCTTC	0.572		NA											False	0	False	11:8751522	0
C16orf93	90835	broad.mit.edu	37	16	30768893	30768893	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30768893C>T	ENST00000543610.1	-	9	1861	c.900G>A	c.(898-900)cgG>cgA	p.R300R	PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Silent_p.R365R|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	300										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TGGCCTTGAGCCGCTCCTCCA	0.607		NA											False	0	False	16:30768893	0
CTNNA3	29119	broad.mit.edu	37	10	67680252	67680252	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:67680252G>A	ENST00000433211.2	-	18	2698	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R842W|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	NA					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTGGGTGCCGGGGCCCAGCA	0.478		NA											False	0	True	10:67680252	0
ABCA1	19	broad.mit.edu	37	9	107620844	107620844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:107620844G>A	ENST00000374736.3	-	7	1073	c.679C>T	c.(679-681)Cga>Tga	p.R227*	ABCA1_ENST00000423487.2_Nonsense_Mutation_p.R227*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	227					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CGAAGTACTCGCTCTGCTGCA	0.468		NA											False	0	False	9:107620844	0
CHD7	55636	broad.mit.edu	37	8	61654852	61654852	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:61654852G>A	ENST00000423902.2	+	2	1340	c.861G>A	c.(859-861)ccG>ccA	p.P287P	CHD7_ENST00000524602.1_Silent_p.P287P|CHD7_ENST00000525508.1_Silent_p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.P287P(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGTTAGGCCGCAAACCCTTA	0.512		NA											False	0	False	8:61654852	0
ERG	2078	broad.mit.edu	37	21	39755612	39755612	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:39755612G>A	ENST00000442448.1	-	11	1373	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	ERG_ENST00000398905.1_Missense_Mutation_p.R361C|ERG_ENST00000398897.1_Missense_Mutation_p.R269C|ERG_ENST00000398911.1_Missense_Mutation_p.R368C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C|ERG_ENST00000417133.2_Missense_Mutation_p.R392C|ERG_ENST00000398907.1_Missense_Mutation_p.R362C	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	392					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TAGGCGTAGCGCTTCCCATGG	0.572		NA	T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								False	0	False	21:39755612	0
SCYL1	57410	broad.mit.edu	37	11	65299135	65299135	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:65299135G>A	ENST00000524944.1	+	8	1130	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	SCYL1_ENST00000533862.1_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H|SCYL1_ENST00000270176.5_Missense_Mutation_p.R366H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	366					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CGGGCCATGCGCATCCGCCTC	0.617		NA											False	0	False	11:65299135	0
KRT6A	3853	broad.mit.edu	37	12	52881586	52881586	+	Missense_Mutation	SNP	C	C	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:52881586C>G	ENST00000330722.6	-	9	1681	c.1613G>C	c.(1612-1614)gGc>gCc	p.G538A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	538	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCTGAGGCCACCCCCAAT	0.577		NA											False	0	False	12:52881586	0
RNASEL	6041	broad.mit.edu	37	1	182555377	182555377	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:182555377C>A	ENST00000367559.3	-	2	818	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	RNASEL_ENST00000539397.1_Missense_Mutation_p.D189Y|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189Y	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	189					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCATCTCATCAAGGAGAATC	0.502		NA											False	0	False	1:182555377	0
ITGA4	3676	broad.mit.edu	37	2	182360534	182360534	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:182360534C>T	ENST00000397033.2	+	14	1840	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	470					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAATTGTTGACGCTTCTTTAA	0.358		NA											False	0	False	2:182360534	0
MYEOV	26579	broad.mit.edu	37	11	69063478	69063478	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:69063478G>A	ENST00000535407.1	+	2	1030	c.387G>A	c.(385-387)cgG>cgA	p.R129R	MYEOV_ENST00000441339.2_Silent_p.R187R|MYEOV_ENST00000308946.3_Silent_p.R187R			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	187										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGCATGGGCGGCATGGGCTCT	0.627		NA											False	0	False	11:69063478	0
IGHA1	0	broad.mit.edu	37	14	106173748	106173748	+	RNA	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:106173748G>A	ENST00000390547.2	-	0	818										NA											NA						GGTACTTCTCGCGGGGCAGCT	0.662		NA											False	0	False	14:106173748	0
RRP12	23223	broad.mit.edu	37	10	99126559	99126559	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:99126559G>A	ENST00000370992.4	-	27	3266	c.3155C>T	c.(3154-3156)gCc>gTc	p.A1052V	RRP12_ENST00000536831.1_Missense_Mutation_p.A770V|RRP12_ENST00000315563.6_Missense_Mutation_p.A952V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.A991V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1052						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ctcctccACGGCAGCCTGGCT	0.642		NA											False	0	False	10:99126559	0
EPB41L1	2036	broad.mit.edu	37	20	34773105	34773105	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34773105G>A	ENST00000338074.2	+	7	794	c.633G>A	c.(631-633)acG>acA	p.T211T	EPB41L1_ENST00000202028.5_Silent_p.T149T|EPB41L1_ENST00000373941.1_Silent_p.T211T|EPB41L1_ENST00000373950.2_Silent_p.T114T|EPB41L1_ENST00000373946.3_Silent_p.T180T|EPB41L1_ENST00000441639.1_Silent_p.T149T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	211	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCTTTGTCACGCATGCCCTAC	0.612		NA											False	0	False	20:34773105	0
PCDH11X	27328	broad.mit.edu	37	X	91090851	91090851	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:91090851G>A	ENST00000373094.1	+	1	1193	c.348G>A	c.(346-348)ccG>ccA	p.P116P	PCDH11X_ENST00000406881.1_Silent_p.P116P|PCDH11X_ENST00000395337.2_Silent_p.P116P|PCDH11X_ENST00000373088.1_Silent_p.P116P|PCDH11X_ENST00000298274.8_Silent_p.P116P|PCDH11X_ENST00000361655.2_Silent_p.P116P|PCDH11X_ENST00000373097.1_Silent_p.P116P|PCDH11X_ENST00000361724.1_Silent_p.P116P|PCDH11X_ENST00000504220.2_Silent_p.P116P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCATTTTGCCGGATGAAATAT	0.393		NA											False	0	False	X:91090851	0
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:178952072A>T	ENST00000263967.3	+	21	3284	c.3127A>T	c.(3127-3129)Atg>Ttg	p.M1043L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			False	0	True	3:178952072	0
SLC22A23	63027	broad.mit.edu	37	6	3287312	3287312	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:3287312C>T	ENST00000436008.2	-	7	1789	c.1327G>A	c.(1327-1329)Ggg>Agg	p.G443R	SLC22A23_ENST00000406686.3_Missense_Mutation_p.G443R|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.G162R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.G162R			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	443					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGGTGGATCCCGTACCCCGTC	0.632		NA											False	0	True	6:3287312	0
MYLK	4638	broad.mit.edu	37	3	123428605	123428605	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:123428605G>A	ENST00000360772.3	-	15	2318	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	MYLK_ENST00000360304.3_Missense_Mutation_p.S647L|MYLK_ENST00000346322.5_Missense_Mutation_p.S578L|MYLK_ENST00000475616.1_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L			Q15746	MYLK_HUMAN	myosin light chain kinase	647	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGACAGACCTGACACTTGGAC	0.537		NA											False	0	False	3:123428605	0
GPR78	27201	broad.mit.edu	37	4	8582937	8582937	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:8582937C>T	ENST00000382487.4	+	1	645	c.228C>T	c.(226-228)ccC>ccT	p.P76P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	76					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGTCGGCGCCCGGCGCATGCC	0.687		NA											False	0	True	4:8582937	0
SCN1A	6323	broad.mit.edu	37	2	166901827	166901827	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:166901827G>A	ENST00000423058.2	-	10	1405	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T463M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.T463M|SCN1A_ENST00000409050.1_Missense_Mutation_p.T463M	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	463						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCAGTTGCCGTTGCTGCCTG	0.443		NA											False	0	False	2:166901827	0
ZC3H12C	85463	broad.mit.edu	37	11	110036119	110036119	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:110036119G>A	ENST00000453089.2	+	5	3097	c.2216G>A	c.(2215-2217)cGc>cAc	p.R739H	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R770H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R771H			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	770							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CCTTATTCCCGCCAGGAAGGC	0.552		NA											False	0	True	11:110036119	0
NSD1	64324	broad.mit.edu	37	5	176687001	176687001	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:176687001C>T	ENST00000439151.2	+	14	5023	c.4978C>T	c.(4978-4980)Cgc>Tgc	p.R1660C	NSD1_ENST00000354179.4_Missense_Mutation_p.R1391C|NSD1_ENST00000361032.4_Missense_Mutation_p.R1557C|NSD1_ENST00000347982.4_Missense_Mutation_p.R1391C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1660					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.R1660C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGGTTGATGCGCTGTGTCCG	0.403		NA	T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			False	0	False	5:176687001	0
CXADRP3	0	broad.mit.edu	37	18	14478398	14478398	+	RNA	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:14478398G>A	ENST00000581457.1	-	0	1510					NR_024076.1					NA											NA						TTCTGGCAGCGGACGTACGGC	0.453		NA											False	0	False	18:14478398	0
PRPF8	10594	broad.mit.edu	37	17	1585571	1585571	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:1585571G>A	ENST00000572621.1	-	3	551	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P96S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	96						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACTGCGTGGGGCATGTACTTT	0.507		NA											False	0	True	17:1585571	0
CCNA1	8900	broad.mit.edu	37	13	37007204	37007204	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:37007204G>A	ENST00000418263.1	+	2	490	c.140G>A	c.(139-141)aGc>aAc	p.S47N	CCNA1_ENST00000440264.1_Missense_Mutation_p.S4N|CCNA1_ENST00000255465.4_Missense_Mutation_p.S48N|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Missense_Mutation_p.S4N	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	48				EAMHC -> SS (in Ref. 2; AAV38384).	cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		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;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATGCACTGCAGCAACCCCAAG	0.602		NA											False	0	False	13:37007204	0
GLI2	2736	broad.mit.edu	37	2	121736099	121736099	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:121736099G>A	ENST00000452319.1	+	10	1518	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	GLI2_ENST00000314490.11_Silent_p.A158A|GLI2_ENST00000361492.4_Silent_p.A486A|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	486					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTTCAAGGCGCAGTACATGC	0.642		NA											False	0	False	2:121736099	0
ATP2A2	488	broad.mit.edu	37	12	110778541	110778541	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:110778541C>T	ENST00000395494.2	+	13	2321	c.1758C>T	c.(1756-1758)tgC>tgT	p.C586C	ATP2A2_ENST00000308664.6_Silent_p.C613C|ATP2A2_ENST00000539276.2_Silent_p.C613C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	613	Interacts with HAX1.				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGAAGCTGTGCCGGCAAGCAG	0.572		NA											False	0	False	12:110778541	0
DNAJC5B	85479	broad.mit.edu	37	8	66988979	66988979	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:66988979C>T	ENST00000276570.5	+	4	491	c.204C>T	c.(202-204)caC>caT	p.H68H	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	68	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.H68H(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAACGCCCACGCAATACTTA	0.428		NA											False	0	False	8:66988979	0
ANXA1	301	broad.mit.edu	37	9	75775738	75775738	+	Missense_Mutation	SNP	A	A	T	rs111698970		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:75775738A>T	ENST00000376911.1	+	5	1286	c.404A>T	c.(403-405)gAt>gTt	p.D135V	ANXA1_ENST00000257497.6_Missense_Mutation_p.D135V			P04083	ANXA1_HUMAN	annexin A1	135					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACTGATGAAGATACTCTAATT	0.358		NA											False	0	False	9:75775738	0
PCDHA12	0	broad.mit.edu	37	5	140257259	140257259	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140257259G>A	ENST00000398631.2	+	1	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1				NA										NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682		NA											False	0	True	5:140257259	0
RRAGD	58528	broad.mit.edu	37	6	90087442	90087442	+	Missense_Mutation	SNP	C	C	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:90087442C>G	ENST00000369415.4	-	5	1126	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Missense_Mutation_p.E133Q	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	284					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CAGCAGAGCTCATAGGTTTGC	0.353		NA											False	0	False	6:90087442	0
PCDH17	27253	broad.mit.edu	37	13	58208306	58208306	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:58208306C>T	ENST00000377918.3	+	1	1652	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	542	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTTTAACTTCGAGCAGACCA	0.582		NA											False	0	False	13:58208306	0
GRK4	2868	broad.mit.edu	37	4	3015458	3015458	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:3015458G>A	ENST00000398052.4	+	8	987	c.644G>A	c.(643-645)tGc>tAc	p.C215Y	GRK4_ENST00000345167.6_Missense_Mutation_p.C183Y|GRK4_ENST00000504933.1_Missense_Mutation_p.C215Y|GRK4_ENST00000398051.4_Missense_Mutation_p.C183Y	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	215	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGTATGCCTGCAAAAAGCTA	0.393		NA											False	0	False	4:3015458	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733491	56733491	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733491T>C	ENST00000587340.1	-	7	1639	c.944A>G	c.(943-945)gAa>gGa	p.E315G	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E314G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E169G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	315					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGTGTGGCTTCTCCTTGAGG	0.557		NA											False	0	False	19:56733491	0
IGHA2	0	broad.mit.edu	37	14	106053517	106053517	+	RNA	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:106053517G>A	ENST00000390539.2	-	0	779										NA											NA						GGTACTTCTCGCGGGGCAGCT	0.647		NA											False	0	False	14:106053517	0
CCDC88B	283234	broad.mit.edu	37	11	64120219	64120219	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677		NA											False	0	False	11:64120219	0
ALX3	257	broad.mit.edu	37	1	110607330	110607330	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:110607330G>A	ENST00000369792.4	-	2	560	c.473C>T	c.(472-474)aCg>aTg	p.T158M		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTGAAGGTCGTGCGGTTACG	0.597		NA											False	0	False	1:110607330	0
D2HGDH	728294	broad.mit.edu	37	2	242695366	242695366	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695366G>A	ENST00000321264.4	+	9	1452	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	D2HGDH_ENST00000403782.1_Missense_Mutation_p.V281M|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	415					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTACGACATCGTGACTGACCT	0.687		NA											False	0	True	2:242695366	0
CACNG2	10369	broad.mit.edu	37	22	36960745	36960745	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:36960745G>A	ENST00000300105.6	-	4	1606	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	209					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCGTGGCCCGCAGCTGTTTG	0.667		NA											False	0	True	22:36960745	0
CDH2	1000	broad.mit.edu	37	18	25572669	25572669	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:25572669C>T	ENST00000269141.3	-	9	1717	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	CDH2_ENST00000399380.3_Missense_Mutation_p.A401T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	432	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCTGGATGGCGAACCGTCCA	0.532		NA											False	0	False	18:25572669	0
TAS2R38	5726	broad.mit.edu	37	7	141673468	141673468	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:141673468G>A	ENST00000547270.1	-	1	105	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	8					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GACACAGTGCGGATGCGAGTT	0.443		NA											False	0	False	7:141673468	0
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363		NA											False	0	False	11:56020051	0
FLG	2312	broad.mit.edu	37	1	152277587	152277587	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152277587C>T	ENST00000368799.1	-	3	9810	c.9775G>A	c.(9775-9777)Gaa>Aaa	p.E3259K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3259	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.582		NA							Ichthyosis				False	0	False	1:152277587	0
ANKS1A	23294	broad.mit.edu	37	6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTCAGCCGCAGCTTGTCC	0.597		NA											False	0	False	6:34985688	0
JAG1	182	broad.mit.edu	37	20	10621878	10621878	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:10621878C>T	ENST00000254958.5	-	24	3446	c.2931G>A	c.(2929-2931)gaG>gaA	p.E977E	JAG1_ENST00000423891.2_Silent_p.E818E	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	977					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGCAAATGTGCTCCGTAGTAA	0.408		NA							Alagille Syndrome				False	0	False	20:10621878	0
DCAF4L1	285429	broad.mit.edu	37	4	41984154	41984154	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:41984154C>T	ENST00000333141.5	+	1	442	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	115										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCACGTGTACGTGCTCAGAA	0.562		NA											False	0	False	4:41984154	0
SERPINE1	5054	broad.mit.edu	37	7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100780300G>A	ENST00000223095.4	+	8	1263	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582		NA											False	0	True	7:100780300	0
PSMA2	5683	broad.mit.edu	37	7	42957275	42957275	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:42957275C>T	ENST00000442788.1	-	8	618	c.603G>A	c.(601-603)ggG>ggA	p.G201G	PSMA2_ENST00000445517.1_Silent_p.G131G|PSMA2_ENST00000223321.4_Silent_p.G201G			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						CTGTCATTTGCCCTTCAAAGC	0.378		NA											False	0	True	7:42957275	0
GSK3B	2932	broad.mit.edu	37	3	119595270	119595270	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:119595270G>A	ENST00000264235.8	-	8	1881	c.899C>T	c.(898-900)cCt>cTt	p.P300L	GSK3B_ENST00000316626.5_Missense_Mutation_p.P300L|GSK3B_ENST00000473886.1_5'UTR	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	300	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CTTAGTCCAAGGATGTGCCTT	0.333		NA											False	0	False	3:119595270	0
GNL1	2794	broad.mit.edu	37	6	30514571	30514571	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30514571C>T	ENST00000376621.3	-	11	2454	c.1484G>A	c.(1483-1485)cGg>cAg	p.R495Q		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	495					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACATCATTCCGAGCCGCCTT	0.522		NA											False	0	False	6:30514571	0
PPEF2	5470	broad.mit.edu	37	4	76811270	76811270	+	Missense_Mutation	SNP	C	C	T	rs112682717	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:76811270C>T	ENST00000286719.7	-	5	613	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	86					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.R86H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTGAATATGCGGGTCAGGAA	0.507		NA											False	0	True	4:76811270	0
ATRAID	51374	broad.mit.edu	37	2	27438520	27438520	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:27438520A>C	ENST00000380171.3	+	5	728	c.551A>C	c.(550-552)aAc>aCc	p.N184T	ATRAID_ENST00000606999.1_Missense_Mutation_p.N129T|ATRAID_ENST00000405489.3_Missense_Mutation_p.N71T	NM_080592.3	NP_542159.3			all-trans retinoic acid-induced differentiation factor	NA											NA						CAACATGTCAACTGTCCTGGA	0.418		NA											False	0	False	2:27438520	0
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557		NA											False	0	True	20:34241168	0
ZNF384	0	broad.mit.edu	37	12	6782390	6782390	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:6782390C>T	ENST00000396795.1	-	6	1400	c.903G>A	c.(901-903)caG>caA	p.Q301Q	ZNF384_ENST00000355772.4_Silent_p.Q246Q|ZNF384_ENST00000361959.3_Silent_p.Q301Q|ZNF384_ENST00000396799.2_Silent_p.Q301Q|ZNF384_ENST00000319770.3_Silent_p.Q285Q|ZNF384_ENST00000396801.3_Silent_p.Q301Q			Q8TF68	ZN384_HUMAN	zinc finger protein 384	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						ACCGGGTGTGCTGCTGAAGGT	0.542		NA	T	"""EWSR1, TAF15 """	ALL								False	0	False	12:6782390	0
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627		NA									OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:39421234	0
PGAM5	192111	broad.mit.edu	37	12	133294121	133294121	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:133294121C>A	ENST00000498926.2	+	3	525	c.467C>A	c.(466-468)aCc>aAc	p.T156N	PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N|PGAM5_ENST00000543955.1_Missense_Mutation_p.T7N|PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	156						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCCATAGAGACCACCGATATC	0.632		NA											False	0	False	12:133294121	0
HAP1	9001	broad.mit.edu	37	17	39881124	39881124	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:39881124G>A	ENST00000393939.2	-	10	1623	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Silent_p.S615S|HAP1_ENST00000347901.4_Silent_p.S563S|HAP1_ENST00000341193.5_Silent_p.S546S			P54257	HAP1_HUMAN	huntingtin-associated protein 1	615	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGCCCAAGCCGCTGGCCTCCA	0.607		NA											False	0	False	17:39881124	0
SH3RF2	153769	broad.mit.edu	37	5	145435652	145435652	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:145435652G>A	ENST00000511217.1	+	7	1483	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.R477R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	477			R -> Q (in dbSNP:rs35165046).				ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGATCCACGGCAAAGCCGTC	0.562		NA											False	0	False	5:145435652	0
ALOX15B	247	broad.mit.edu	37	17	7948584	7948584	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:7948584G>A	ENST00000380183.4	+	7	1017	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ALOX15B_ENST00000573359.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G293D	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	293	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GTGGATCACGGCATCCTCTCT	0.562		NA											False	0	False	17:7948584	0
NAA40	79829	broad.mit.edu	37	11	63721522	63721522	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63721522G>A	ENST00000377793.4	+	7	673		c.e7+1		NAA40_ENST00000456907.2_Splice_Site|NAA40_ENST00000539656.1_Splice_Site|NAA40_ENST00000542163.1_Splice_Site	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	NA							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGCGTTGCAGTAAGGAGCTG	0.512		NA											False	0	False	11:63721522	0
IL1F10	84639	broad.mit.edu	37	2	113832336	113832336	+	Missense_Mutation	SNP	G	G	A	rs142851873		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113832336G>A	ENST00000393197.2	+	3	576	c.155G>A	c.(154-156)cGc>cAc	p.R52H	IL1F10_ENST00000341010.2_Missense_Mutation_p.R52H|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52H	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	52						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GGCTTGGCCCGCACCAAGGTC	0.587		NA											False	0	True	2:113832336	0
CD163L1	283316	broad.mit.edu	37	12	7559219	7559219	+	Silent	SNP	G	G	A	rs143012538		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7559219G>A	ENST00000313599.3	-	5	1053	c.996C>T	c.(994-996)tcC>tcT	p.S332S	CD163L1_ENST00000416109.2_Silent_p.S342S|CD163L1_ENST00000396630.1_Silent_p.S332S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	332	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTCATTACCGGAGCAGGAGA	0.473		NA											False	0	False	12:7559219	0
EIF4EBP2	1979	broad.mit.edu	37	10	72179709	72179709	+	Missense_Mutation	SNP	G	G	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:72179709G>C	ENST00000373218.4	+	2	208	c.185G>C	c.(184-186)cGt>cCt	p.R62P		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	62					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding			large_intestine(1)	1						CTGTTGGATCGTCGCAATTCT	0.433		NA											False	0	False	10:72179709	0
NPAS2	4862	broad.mit.edu	37	2	101592029	101592029	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:101592029G>A	ENST00000335681.5	+	14	1677	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Splice_Site_p.P529P	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	464					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACCATGCCGGTAAGTGTGT	0.622		NA											False	0	False	2:101592029	0
NPRL3	8131	broad.mit.edu	37	16	148217	148217	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:148217G>A	ENST00000399953.3	-	8	1252	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.R105W	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	284							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						TTGATCACCCGCACTAGGGCA	0.572		NA											False	0	True	16:148217	0
RARRES3	5920	broad.mit.edu	37	11	63312120	63312120	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63312120G>A	ENST00000439013.2	+	3	199	c.146G>A	c.(145-147)aGt>aAt	p.S49N	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N|RARRES3_ENST00000255688.3_Missense_Mutation_p.S49N			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	49					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GGCTCCTCCAGTGTCTTCTCA	0.567		NA											False	0	False	11:63312120	0
MAGEC2	51438	broad.mit.edu	37	X	141291654	141291654	+	Silent	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:141291654G>T	ENST00000247452.3	-	3	467	c.120C>A	c.(118-120)tcC>tcA	p.S40S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	40	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGCGGAGGAGGCTTCCT	0.522		NA								HNSCC(46;0.14)			False	0	False	X:141291654	0
TTN	7273	broad.mit.edu	37	2	179418445	179418445	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:179418445C>A	ENST00000589042.1	-	334	89511	c.89287G>T	c.(89287-89289)Ggc>Tgc	p.G29763C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20890C|TTN_ENST00000591111.1_Missense_Mutation_p.G28122C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20823C|TTN_ENST00000460472.2_Missense_Mutation_p.G20698C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27195C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28122							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)			ACAGCACTGCCCCCATCATAG	0.483		NA											False	0	True	2:179418445	0
TRIM37	4591	broad.mit.edu	37	17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:57093004G>A	ENST00000376149.3	-	21	2986	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000262294.7_Missense_Mutation_p.A848V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V			O94972	TRI37_HUMAN	tripartite motif containing 37	848						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.A848V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398		NA							Mulibrey Nanism				False	0	False	17:57093004	0
STXBP5	0	broad.mit.edu	37	6	147680320	147680320	+	Silent	SNP	G	G	A	rs142207202		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:147680320G>A	ENST00000367481.3	+	21	2406	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	STXBP5_ENST00000367480.3_Silent_p.T749T|STXBP5_ENST00000179882.6_Silent_p.T457T|STXBP5_ENST00000321680.6_Silent_p.T802T	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	802					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCTGTGAAACGTTTACTCGAA	0.488		NA											False	0	True	6:147680320	0
HMHA1	23526	broad.mit.edu	37	19	1073163	1073163	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1073163G>A	ENST00000313093.2	+	3	668	c.437G>A	c.(436-438)cGc>cAc	p.R146H	HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000543365.1_Missense_Mutation_p.R29H|HMHA1_ENST00000590214.1_Missense_Mutation_p.R173H|HMHA1_ENST00000539243.2_Missense_Mutation_p.R162H|HMHA1_ENST00000592335.1_Missense_Mutation_p.A27T|HMHA1_ENST00000586866.1_Missense_Mutation_p.R150H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	146					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CTTGAGGCCCGCCGCCCGCGG	0.642		NA											False	0	True	19:1073163	0
PHACTR1	221692	broad.mit.edu	37	6	13206143	13206143	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:13206143C>A	ENST00000379350.1	+	7	890	c.761C>A	c.(760-762)cCa>cAa	p.P254Q	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P109Q			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	254						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GTGGGGGGGCCAGACCTCTCA	0.602		NA											False	0	False	6:13206143	0
NFE2L1	4779	broad.mit.edu	37	17	46136986	46136986	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:46136986A>G	ENST00000362042.3	+	6	2918	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.K757E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E|NFE2L1_ENST00000582155.1_Missense_Mutation_p.K580E	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	768					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAAGCCAAAGGACCGGAG	0.647		NA											False	0	True	17:46136986	0
PCDHB11	0	broad.mit.edu	37	5	140581503	140581503	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140581503C>T	ENST00000354757.3	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A354V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCGGTG	0.652		NA											False	0	True	5:140581503	0
VPS37D	155382	broad.mit.edu	37	7	73085559	73085559	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:73085559C>T	ENST00000324941.4	+	4	743	c.609C>T	c.(607-609)gcC>gcT	p.A203A	VPS37D_ENST00000451519.1_Silent_p.A118A	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	203					cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCACTGGGGCCGCCCGGGGGC	0.766		NA											False	0	False	7:73085559	0
EPHB4	2050	broad.mit.edu	37	7	100402884	100402884	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100402884C>T	ENST00000358173.3	-	16	3206	c.2738G>A	c.(2737-2739)gGc>gAc	p.G913D	EPHB4_ENST00000360620.3_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	913	SAM.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAGCCACTCGCCCACAGAGCC	0.587		NA											False	0	True	7:100402884	0
CNNM4	26504	broad.mit.edu	37	2	97463316	97463316	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:97463316C>T	ENST00000377075.2	+	3	1711	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.A25V	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	538					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTCAAGGATGCGGACAATGAG	0.562		NA											False	0	False	2:97463316	0
ZNRF3	84133	broad.mit.edu	37	22	29439358	29439358	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:29439358G>A	ENST00000544604.2	+	4	748	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ZNRF3_ENST00000332811.4_Silent_p.L91L|ZNRF3_ENST00000406323.3_Silent_p.L91L|ZNRF3_ENST00000402174.1_Silent_p.L91L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	191						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCATTAAGCTGATGAACATCG	0.562		NA											False	0	False	22:29439358	0
IGDCC3	9543	broad.mit.edu	37	15	65622967	65622967	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:65622967G>A	ENST00000327987.4	-	10	1925	c.1674C>T	c.(1672-1674)taC>taT	p.Y558Y		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	558	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGCTGGGCGGTAAAACAGCT	0.652		NA											False	0	False	15:65622967	0
IGSF1	3547	broad.mit.edu	37	X	130411143	130411143	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:130411143G>A	ENST00000370904.1	-	20	3261	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	IGSF1_ENST00000361420.3_Missense_Mutation_p.A793V|IGSF1_ENST00000370903.3_Missense_Mutation_p.A798V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A784V|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	793	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTCACTCGGGCACCAGGGGT	0.448		NA											False	0	True	X:130411143	0
SAP18	10284	broad.mit.edu	37	13	21721345	21721345	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:21721345C>T	ENST00000382533.4	+	4	422	c.383C>T	c.(382-384)aCc>aTc	p.T128I	SAP18_ENST00000607003.1_Missense_Mutation_p.T109I	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	109					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		ATTGGCAGCACCATGTCTGGC	0.433		NA											False	0	False	13:21721345	0
HIST3H2BB	128312	broad.mit.edu	37	1	228646127	228646127	+	Silent	SNP	T	T	G	rs145799075	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:228646127T>G	ENST00000369160.2	+	1	320	c.297T>G	c.(295-297)gtT>gtG	p.V99V		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	99					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				AGACGGCCGTTCGCCTGCTGC	0.652		NA											False	0	False	1:228646127	0
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	NA						integral to membrane	amino acid transmembrane transporter activity	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498		NA											False	0	False	3:170198095	0
AQP10	89872	broad.mit.edu	37	1	154295786	154295786	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:154295786C>T	ENST00000484864.1	+	4	476	c.440C>T	c.(439-441)gCc>gTc	p.A147V	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.A147V			Q96PS8	AQP10_HUMAN	aquaporin 10	147					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCATTTTTGCCACCTATCCT	0.557		NA											False	0	False	1:154295786	0
DAZAP1	26528	broad.mit.edu	37	19	1425952	1425952	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1425952G>A	ENST00000336761.6	+	7	744	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DAZAP1_ENST00000586579.1_Intron|DAZAP1_ENST00000233078.4_Missense_Mutation_p.G180D	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	180	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GACATCATGGGCAAAAAAGTG	0.413		NA											False	0	True	19:1425952	0
ASCC3	10973	broad.mit.edu	37	6	101073182	101073182	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:101073182A>G	ENST00000369162.2	-	30	5015	c.4671T>C	c.(4669-4671)ccT>ccC	p.P1557P		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1557	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATCAAAACAGGTTTGGCTG	0.378		NA											False	0	False	6:101073182	0
DENND5B	160518	broad.mit.edu	37	12	31577541	31577541	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:31577541C>T	ENST00000389082.5	-	10	2583	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	DENND5B_ENST00000536562.1_Silent_p.E808E|DENND5B_ENST00000306833.6_Silent_p.E808E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	773	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGTGTTCTCCTCCAGGCCGG	0.517		NA											False	0	False	12:31577541	0
COL11A1	1301	broad.mit.edu	37	1	103483426	103483426	+	Missense_Mutation	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:103483426G>T	ENST00000358392.2	-	11	1716	c.1399C>A	c.(1399-1401)Cct>Act	p.P467T	COL11A1_ENST00000370096.3_Missense_Mutation_p.P455T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	455	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTGGAGGACCCATAATA	0.418		NA											False	0	False	1:103483426	0
COL6A3	1293	broad.mit.edu	37	2	238253001	238253001	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:238253001C>T	ENST00000295550.4	-	36	8112	c.7660G>A	c.(7660-7662)Gct>Act	p.A2554T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2554	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGCAAAGCGTTGATGAGC	0.557		NA											False	0	False	2:238253001	0
FBXL17	64839	broad.mit.edu	37	5	107216677	107216677	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:107216677A>G	ENST00000496714.1	-	7	1033	c.832T>C	c.(832-834)Tca>Cca	p.S278P	FBXL17_ENST00000542267.1_Intron|FBXL17_ENST00000359660.5_Intron			Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	0										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AGAGGATATGACATCAAGCTA	0.338		NA											False	0	False	5:107216677	0
NR2F2	7026	broad.mit.edu	37	15	96877325	96877325	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:96877325C>T	ENST00000394166.3	+	2	1852	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	NR2F2_ENST00000394171.2_Missense_Mutation_p.P2S|NR2F2_ENST00000421109.2_Missense_Mutation_p.P22S|NR2F2_ENST00000453270.2_Missense_Mutation_p.P2S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	155	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGGCAGGATGCCGCCGACCCA	0.662		NA											False	0	False	15:96877325	0
RGS20	8601	broad.mit.edu	37	8	54791937	54791937	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:54791937C>T	ENST00000297313.3	+	2	377	c.285C>T	c.(283-285)ccC>ccT	p.P95P	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	95					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GACCCCCTCCCGAGGCTCCCC	0.726		NA											False	0	True	8:54791937	0
NUP160	23279	broad.mit.edu	37	11	47861533	47861533	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:47861533T>C	ENST00000378460.2	-	4	656	c.610A>G	c.(610-612)Att>Gtt	p.I204V	NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V|NUP160_ENST00000530326.1_Missense_Mutation_p.I90V|NUP160_ENST00000526870.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	204					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACTGCTGGAATTAACTGATAG	0.458		NA											False	0	False	11:47861533	0
ZNF646	9726	broad.mit.edu	37	16	31089682	31089682	+	Silent	SNP	C	C	T	rs145751871		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:31089682C>T	ENST00000394979.2	+	1	2460	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	ZNF646_ENST00000300850.5_Silent_p.G679G			O15015	ZN646_HUMAN	zinc finger protein 646	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCGGGCTGGCGGTGCCAGCG	0.652		NA											False	0	False	16:31089682	0
SRGAP3	9901	broad.mit.edu	37	3	9100157	9100157	+	Splice_Site	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:9100157C>T	ENST00000383836.3	-	7	1229		c.e7-1		SRGAP3_ENST00000360413.3_Splice_Site|SRGAP3_ENST00000433332.3_Splice_Site	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	NA					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AATCACAGCACTTGGGGAGAG	0.577		NA	T	RAF1	pilocytic astrocytoma								False	0	False	3:9100157	0
MYOC	4653	broad.mit.edu	37	1	171605766	171605766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:171605766G>A	ENST00000037502.6	-	3	885	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	NA	Olfactomedin-like.		R -> G (in GLC1A; could be a polymorphism).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R272*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTGGGGTCTCGCATCCACACA	0.512		NA											False	0	False	1:171605766	0
DSP	1832	broad.mit.edu	37	6	7580347	7580347	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:7580347G>A	ENST00000379802.3	+	23	4265	c.3924G>A	c.(3922-3924)cgG>cgA	p.R1308R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1308	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAATGCCCGGCACAAGCAGT	0.532		NA											False	0	False	6:7580347	0
ZNF749	388567	broad.mit.edu	37	19	57956103	57956103	+	Silent	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:57956103T>C	ENST00000334181.4	+	3	1837	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCC	0.453		NA											False	0	False	19:57956103	0
RP11-113D6.10	0	broad.mit.edu	37	11	18231323	18231323	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:18231323A>C	ENST00000527059.1	+	1	569	c.109A>C	c.(109-111)Agt>Cgt	p.S37R	RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.S37R|RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.S37R						NA											NA						TTACAGATTTAGTGAAATGAA	0.413		NA											False	0	True	11:18231323	0
SLC5A9	200010	broad.mit.edu	37	1	48694800	48694800	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:48694800A>T	ENST00000236495.5	+	4	415	c.365A>T	c.(364-366)gAc>gTc	p.D122V	SLC5A9_ENST00000533824.1_Missense_Mutation_p.D122V|SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000438567.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						tctggaggagacagagggatc	0.527		NA											False	0	False	1:48694800	0
OR8H2	390151	broad.mit.edu	37	11	55872750	55872750	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:55872750G>A	ENST00000313503.1	+	1	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCAACTGTCGTCACACCTAA	0.438		NA								HNSCC(53;0.14)			False	0	False	11:55872750	0
GPC3	2719	broad.mit.edu	37	X	132730547	132730547	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:132730547G>A	ENST00000370818.3	-	7	1939	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	GPC3_ENST00000543339.1_Silent_p.C444C|GPC3_ENST00000394299.2_Silent_p.C521C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	498						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CATCATCACCGCAGTCTCCAC	0.463		NA	"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				False	0	False	X:132730547	0
COQ10A	93058	broad.mit.edu	37	12	56662938	56662938	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:56662938G>A	ENST00000308197.5	+	3	638	c.377G>A	c.(376-378)cGt>cAt	p.R126H	RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000433805.2_Missense_Mutation_p.R94H|COQ10A_ENST00000546544.1_Missense_Mutation_p.R109H	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	126						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GTATCCAGCCGTAAGGGTCAT	0.512		NA											False	0	False	12:56662938	0
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522		NA											False	0	False	4:186544317	0
SETDB1	9869	broad.mit.edu	37	1	150921863	150921863	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:150921863C>T	ENST00000271640.5	+	12	1632	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	SETDB1_ENST00000368969.4_Missense_Mutation_p.A481V|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCCAGCTTGCCCAGTCACGG	0.443		NA											False	0	True	1:150921863	0
ZBTB38	253461	broad.mit.edu	37	3	141163339	141163339	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:141163339C>T	ENST00000514251.1	+	4	2388	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A	ZBTB38_ENST00000441582.2_Silent_p.A703A|ZBTB38_ENST00000321464.5_Silent_p.A704A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	703					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTGAGAATGCCGCCTCTGTGA	0.498		NA											False	0	False	3:141163339	0
ZNF606	80095	broad.mit.edu	37	19	58490664	58490664	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:58490664C>T	ENST00000341164.4	-	7	2004	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	ZNF606_ENST00000536132.1_Missense_Mutation_p.G372R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAGGCTTTTCCACATTTATTA	0.358		NA											False	0	False	19:58490664	0
SCN3B	55800	broad.mit.edu	37	11	123516310	123516310	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:123516310G>A	ENST00000392770.2	-	2	1006	c.204C>T	c.(202-204)ggC>ggT	p.G68G	SCN3B_ENST00000530277.1_Silent_p.G68G|SCN3B_ENST00000299333.3_Silent_p.G68G	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	68	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AATCTTTACCGCCCTCGGGCC	0.592		NA											False	0	True	11:123516310	0
SLC5A1	6523	broad.mit.edu	37	22	32481008	32481008	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:32481008G>A	ENST00000266088.4	+	9	1257	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	336					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.R336H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ATGATCAGCCGCATTCTGTAC	0.483		NA											False	0	False	22:32481008	0
WWP1	11059	broad.mit.edu	37	8	87423766	87423766	+	Splice_Site	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:87423766G>T	ENST00000517970.1	+	9	1031		c.e9-1		WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000349423.2_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	NA					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TCCCTTCTCAGTTAATGGAGA	0.368		NA											False	0	False	8:87423766	0
RNF133	168433	broad.mit.edu	37	7	122338189	122338189	+	Missense_Mutation	SNP	G	G	A	rs137950690		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:122338189G>A	ENST00000340112.2	-	1	1021	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	262						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGCTTATAGCGTTCAAAGCAA	0.403		NA											False	0	False	7:122338189	0
TEX37	200523	broad.mit.edu	37	2	88828748	88828748	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:88828748G>A	ENST00000303254.3	+	4	441	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_152670.2	NP_689883.1			testis expressed 37	NA											NA						GAGGACGAGCGCAAGTTCACC	0.587		NA											False	0	False	2:88828748	0
EPHX2	2053	broad.mit.edu	37	8	27373915	27373915	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:27373915G>A	ENST00000521400.1	+	8	1340	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	EPHX2_ENST00000517536.1_Splice_Site_p.E121K|EPHX2_ENST00000521780.1_Splice_Site_p.E238K|EPHX2_ENST00000380476.3_Splice_Site_p.E251K|EPHX2_ENST00000518379.1_Splice_Site_p.E272K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	304	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TGCTCCTCCCGGTGGGTGTGC	0.567		NA									OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	8:27373915	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077417	57077417	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:57077417G>A	ENST00000532437.1	-	5	3079	c.2768C>T	c.(2767-2769)gCc>gTc	p.A923V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A923V|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	923	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.A923V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCTCATCGGCATCCTGGCT	0.572		NA											False	0	False	11:57077417	0
SEPHS2	22928	broad.mit.edu	37	16	30456444	30456444	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30456444G>A	ENST00000478753.2	-	1	1058	c.605C>T	c.(604-606)gCg>gTg	p.A202V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	202					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTCCTCAGCCGCATCCCGAAA	0.527		NA											False	0	False	16:30456444	0
HAS2	3037	broad.mit.edu	37	8	122626809	122626809	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:122626809C>T	ENST00000303924.4	-	4	1736	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	400						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AATTTTACCCCGGTAGAAGAG	0.413		NA											False	0	True	8:122626809	0
BTN2A3P	0	broad.mit.edu	37	6	26431077	26431077	+	RNA	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:26431077G>A	ENST00000466808.2	+	0	1447										NA											NA						AGCATTCCGGGCAACCCAGAG	0.517		NA											False	0	True	6:26431077	0
CCDC88C	440193	broad.mit.edu	37	14	91760540	91760540	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:91760540G>A	ENST00000389857.6	-	23	4175	c.4089C>T	c.(4087-4089)taC>taT	p.Y1363Y		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1363					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTCCTCATGGTACTGCTCCT	0.542		NA											False	0	False	14:91760540	0
VWA3B	200403	broad.mit.edu	37	2	98736133	98736133	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:98736133G>A	ENST00000477737.1	+	4	653	c.449G>A	c.(448-450)gGc>gAc	p.G150D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	150										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATTTTGGCGGCATTCTGGAG	0.522		NA											False	0	False	2:98736133	0
SLC6A13	6540	broad.mit.edu	37	12	346453	346453	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:346453C>T	ENST00000343164.4	-	6	619	c.567G>A	c.(565-567)cgG>cgA	p.R189R	SLC6A13_ENST00000445055.2_Silent_p.R97R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	189					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAAGACCCGCCGCCTGGGGA	0.622		NA											False	0	False	12:346453	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111										NA								p.L368P(6)			NA						TTGCAGTATCTTCAGAGTCTG	0.328		NA											False	0	False	16:29110438	0
F13A1	2162	broad.mit.edu	37	6	6318801	6318801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:6318801G>A	ENST00000264870.3	-	2	362	c.97C>T	c.(97-99)Cag>Tag	p.Q33*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	33					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACCACGCCCTGAAGCTCCACT	0.602		NA											False	0	False	6:6318801	0
MELK	9833	broad.mit.edu	37	9	36665452	36665452	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:36665452A>G	ENST00000543751.1	+	13	1331	c.1186A>G	c.(1186-1188)Act>Gct	p.T396A	MELK_ENST00000541717.1_Missense_Mutation_p.T387A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A|MELK_ENST00000298048.2_Missense_Mutation_p.T428A|MELK_ENST00000536987.1_Missense_Mutation_p.T297A|MELK_ENST00000545008.1_Missense_Mutation_p.T357A	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	428						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAATGTATATACTCCTAAGTC	0.368		NA											False	0	True	9:36665452	0
SIN3A	25942	broad.mit.edu	37	15	75703966	75703966	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:75703966G>A	ENST00000394947.3	-	6	1189	c.875C>T	c.(874-876)aCg>aTg	p.T292M	SIN3A_ENST00000394949.4_Missense_Mutation_p.T292M|SIN3A_ENST00000360439.4_Missense_Mutation_p.T292M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	292	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGATGGGGCCGTTCCCAACGA	0.517		NA											False	0	False	15:75703966	0
EZH1	2145	broad.mit.edu	37	17	40865346	40865346	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:40865346C>T	ENST00000428826.2	-	11	1206	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	EZH1_ENST00000435174.1_Missense_Mutation_p.R223Q|EZH1_ENST00000585893.1_Missense_Mutation_p.R322Q|EZH1_ENST00000415827.2_Missense_Mutation_p.R353Q|EZH1_ENST00000590078.1_Missense_Mutation_p.R292Q|EZH1_ENST00000592743.1_Missense_Mutation_p.R362Q			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	362					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GTGCCTTCTCCGGCGACGACC	0.552		NA											False	0	False	17:40865346	0
D2HGDH	728294	broad.mit.edu	37	2	242695353	242695353	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695353G>A	ENST00000321264.4	+	9	1439	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	D2HGDH_ENST00000403782.1_Silent_p.R276R|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	410					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGTGGAGCGGCTCTACGACA	0.672		NA											False	0	False	2:242695353	0
ARMCX3	51566	broad.mit.edu	37	X	100880318	100880318	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:100880318G>A	ENST00000341189.4	+	5	1215	c.349G>A	c.(349-351)Gtt>Att	p.V117I	ARMCX3_ENST00000537169.1_Missense_Mutation_p.V117I|ARMCX3_ENST00000471229.2_Missense_Mutation_p.V117I	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	117						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						AGATGATACCGTTTTGTCCCC	0.517		NA											False	0	True	X:100880318	0
CNTN1	1272	broad.mit.edu	37	12	41422975	41422975	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:41422975G>A	ENST00000551295.2	+	23	3051	c.2934G>A	c.(2932-2934)gcG>gcA	p.A978A	CNTN1_ENST00000347616.1_Silent_p.A978A|CNTN1_ENST00000348761.2_Silent_p.A967A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	978	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTTCGCGCGCACAGTGATG	0.458		NA											False	0	True	12:41422975	0
SGPP1	81537	broad.mit.edu	37	14	64152974	64152974	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64152974C>T	ENST00000247225.6	-	3	1269	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	392						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GAAGATTTTGCAGGCTAAAGG	0.378		NA											False	0	False	14:64152974	0
CXorf56	63932	broad.mit.edu	37	X	118699217	118699217	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:118699217G>A	ENST00000371594.4	-	1	180	c.102C>T	c.(100-102)tgC>tgT	p.C34C	CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	34							protein binding			cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577		NA											False	0	False	X:118699217	0
SMG1	23049	broad.mit.edu	37	16	18880528	18880528	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18880528C>T	ENST00000446231.2	-	20	3143	c.2731G>A	c.(2731-2733)Gtc>Atc	p.V911I	SMG1_ENST00000389467.3_Missense_Mutation_p.V911I			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	911	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGCCAAAGGACAGCATCTGTC	0.488		NA											False	0	False	16:18880528	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	12:25398285	0
PCNT	5116	broad.mit.edu	37	21	47786815	47786815	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:47786815C>A	ENST00000359568.5	+	15	3033	c.2926C>A	c.(2926-2928)Ctc>Atc	p.L976I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	976					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATCCTGTTACCTCTCTGAATT	0.537		NA											False	0	True	21:47786815	0
ZNF280B	140883	broad.mit.edu	37	22	22842836	22842836	+	Missense_Mutation	SNP	T	T	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:22842836T>A	ENST00000360412.2	-	4	1663	c.888A>T	c.(886-888)gaA>gaT	p.E296D	ZNF280B_ENST00000406426.1_Missense_Mutation_p.E296D	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCGGCTGCCCTTCTCCTTTAT	0.388		NA											False	0	True	22:22842836	0
OR51A2	401667	broad.mit.edu	37	11	4976163	4976163	+	Missense_Mutation	SNP	C	C	T	rs75797492	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:4976163C>T	ENST00000380371.1	-	1	780	c.781G>A	c.(781-783)Gtt>Att	p.V261I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	261					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)		CGGTGGACAACGGCCAGGTTG	0.468		NA											False	0	False	11:4976163	0
CELA2A	63036	broad.mit.edu	37	1	15783633	15783633	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:15783633C>T	ENST00000359621.4	+	2	118	c.93C>T	c.(91-93)ggC>ggT	p.G31G	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	31	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGGTGGTTGGCGGTGAAGAAG	0.577		NA											False	0	False	1:15783633	0
MUC5AC	4586	broad.mit.edu	37	11	1155679	1155679	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:1155679C>T	ENST00000356191.2	+	5	365	c.365C>T	c.(364-366)aCg>aTg	p.T122M						mucin 5AC, oligomeric mucus/gel-forming	NA										NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CATCCAGCTACGCCGCAGCCA	0.632		NA											False	0	False	11:1155679	0
PTPN6	5777	broad.mit.edu	37	12	7060853	7060853	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7060853G>A	ENST00000456013.1	+	2	332	c.90G>A	c.(88-90)cgG>cgA	p.R30R	PTPN6_ENST00000318974.9_Silent_p.R30R|PTPN6_ENST00000399448.1_Silent_p.R32R|PTPN6_ENST00000447931.2_Intron	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	30	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TCCTGGCTCGGCCCAGTCGCA	0.662		NA											False	0	True	12:7060853	0
FAM83G	644815	broad.mit.edu	37	17	18874844	18874844	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:18874844G>A	ENST00000388995.6	-	6	2523	c.2300C>T	c.(2299-2301)gCc>gTc	p.A767V	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A767V|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A767V|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	767										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATGGGGCGGGCATTTTGGGC	0.652		NA											False	0	True	17:18874844	0
LRRC28	123355	broad.mit.edu	37	15	99874263	99874263	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:99874263G>A	ENST00000301981.3	+	6	761	c.521G>A	c.(520-522)cGc>cAc	p.R174H	LRRC28_ENST00000447360.2_Missense_Mutation_p.R174H|LRRC28_ENST00000442993.2_Silent_p.A142A|LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000331450.5_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	174										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TATGTGCCGCGCCATCTCTGC	0.488		NA											False	0	False	15:99874263	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465897	24465897	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:24465897C>T	ENST00000382137.3	-	3	601	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTTATTCCCCGGACTCCTGG	0.587		NA											False	0	True	13:24465897	0
FN3KRP	79672	broad.mit.edu	37	17	80684911	80684911	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:80684911G>A	ENST00000269373.6	+	6	867	c.794G>A	c.(793-795)gGc>gAc	p.G265D	FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	265				G -> C (in Ref. 4; AAH01458).			kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTACCACGGCAAAATCCCC	0.502		NA											False	0	False	17:80684911	0
TRHR	7201	broad.mit.edu	37	8	110099973	110099973	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:110099973G>A	ENST00000518632.1	+	2	583	c.232G>A	c.(232-234)Gca>Aca	p.A78T	TRHR_ENST00000311762.2_Missense_Mutation_p.A78T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	78						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTTGGTGGCCGCAGGCCTCCC	0.512		NA											False	0	False	8:110099973	0
POSTN	10631	broad.mit.edu	37	13	38145544	38145544	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:38145544A>T	ENST00000379747.4	-	18	2258	c.2141T>A	c.(2140-2142)aTt>aAt	p.I714N	POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N|POSTN_ENST00000541179.1_Missense_Mutation_p.I687N|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000379749.4_Missense_Mutation_p.I714N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	714					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCTTCTTTAATCAGTCTGAA	0.383		NA											False	0	False	13:38145544	0
SMG1	23049	broad.mit.edu	37	16	18841673	18841673	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18841673G>A	ENST00000446231.2	-	52	9223	c.8811C>T	c.(8809-8811)taC>taT	p.Y2937Y	SMG1_ENST00000389467.3_Silent_p.Y2937Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2937					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTAATTCACCGTACTGAGCAT	0.413		NA											False	0	False	16:18841673	0
CACNA1D	776	broad.mit.edu	37	3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:53769492G>A	ENST00000288139.4	+	21	2891	c.2773G>A	c.(2773-2775)Gca>Aca	p.A925T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	NA					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627		NA											False	0	False	3:53769492	0
KLHDC8A	55220	broad.mit.edu	37	1	205307704	205307704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:205307704G>A	ENST00000367156.3	-	8	1594	c.778C>T	c.(778-780)Cga>Tga	p.R260*	KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	260										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGAACGATCGTTCCATCTTC	0.517		NA											False	0	False	1:205307704	0
OPA1	4976	broad.mit.edu	37	3	193366601	193366601	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:193366601A>C	ENST00000361510.2	+	21	2187	c.1953A>C	c.(1951-1953)aaA>aaC	p.K651N	OPA1_ENST00000361150.2_Missense_Mutation_p.K597N|OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N|OPA1_ENST00000361908.3_Missense_Mutation_p.K633N|OPA1_ENST00000392438.3_Missense_Mutation_p.K596N	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	596					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TATTTGAAAAAGCTAAAAATG	0.308		NA											False	0	True	3:193366601	0
