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
ADORA3	140	broad.mit.edu	37	1	112028382	112028384	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:112028382_112028384delCTC	ENST00000369716.4	-	5	1084_1086	c.951_953delGAG	c.(949-954)aggaga>aga	p.317_318RR>R	ADORA3_ENST00000369717.4_In_Frame_Del_p.236_237RR>R	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CCTTTGACTTCTCCTCCTTTTGG	0.429		NA											False	2	False	1:112028382	0
MMS19	64210	broad.mit.edu	37	10	99219804	99219804	+	Splice_Site	DEL	T	T	-			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:99219804delT	ENST00000438925.2	-	26	2990	c.2655delA	c.(2653-2655)caa>ca	p.Q885fs	MMS19_ENST00000370782.2_Splice_Site_p.Q885fs|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Splice_Site_p.Q787fs|MMS19_ENST00000355839.6_Splice_Site_p.Q842fs	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	885					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ACTCCTCACCTTGGGGAGCAG	0.522		NA						Direct reversal of damage					False	2	False	10:99219804	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
MALAT1	0	broad.mit.edu	37	11	65268241	65268242	+	RNA	INS	-	-	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:65268241_65268242insT	ENST00000534336.1	+	0	3009_3010					NR_002819.2					NA											NA						GTTGGTAAAAATCCGTGAGGTC	0.475		NA											False	1	True	11:65268241	0
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	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
IGHV1-18	0	broad.mit.edu	37	14	106641743	106641744	+	RNA	INS	-	-	CGGGAC			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:106641743_106641744insCGGGAC	ENST00000390605.2	-	0	228_229										NA											NA						CAGGGGCCTGTCGCACCCAGCT	0.55		NA											False	0	False	14:106641743	0
ELF3	1999	broad.mit.edu	37	1	201982095	201982135	+	Frame_Shift_Del	DEL	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	-	rs148651345		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	-	-	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:201982095_201982135delTCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	ENST00000359651.3	+	5	3811_3851	c.619_659delTCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	c.(619-660)tcccactcctcagactccggtggaagtgacgtggacctggatfs	p.SHSSDSGGSDVDLD207fs	ELF3_ENST00000367284.5_Frame_Shift_Del_p.SHSSDSGGSDVDLD207fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.SHSSDSGGSDVDLD207fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	207					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TTCTCGGAGCTCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGATCCCACTGAT	0.647		NA											False	1	False	1:201982095	0
NLRP2	55655	broad.mit.edu	37	19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-	rs3745905	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567		NA											False	1	True	19:55494630	0
UNC50	25972	broad.mit.edu	37	2	99226227	99226228	+	Frame_Shift_Ins	INS	-	-	A	rs140953303		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:99226227_99226228insA	ENST00000409975.1	+	1	1186_1187	c.56_57insA	c.(55-60)ttaccgfs	p.P20fs	UNC50_ENST00000409347.1_Frame_Shift_Ins_p.P20fs|UNC50_ENST00000357765.2_Frame_Shift_Ins_p.P3fs			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	3					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGGAAGATGTTACCGAGTACTT	0.45		NA											False	1	False	2:99226227	0
ESPNP	0	broad.mit.edu	37	1	17034456	17034463	+	RNA	DEL	GCGCGCGT	GCGCGCGT	-	rs58726851		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	GCGCGCGT	GCGCGCGT	-	-	GCGCGCGT	GCGCGCGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:17034456_17034463delGCGCGCGT	ENST00000492551.1	-	0	304_311					NR_026567.1					NA											NA						CGTCGTGGGCGCGCGCGTGCGGGTCCGC	0.726		NA											False	1	True	1:17034456	0
SLC9B1	150159	broad.mit.edu	37	4	103822483	103822484	+	Frame_Shift_Del	DEL	AC	AC	-	rs3974499		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:103822483_103822484delAC	ENST00000296422.7	-	12	1479_1480	c.1338_1339delGT	c.(1336-1341)gtgttafs	p.L447fs	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	447						integral to membrane	solute:hydrogen antiporter activity				NA						AGAGGACCTAACACAGCCTGCA	0.386		NA											False	2	False	4:103822483	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	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
ZMIZ2	83637	broad.mit.edu	37	7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	rs142075074	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678		NA											False	1	False	7:44797065	0
PTPN12	0	broad.mit.edu	37	7	77230123	77230123	+	Splice_Site	DEL	G	G	-			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:77230123delG	ENST00000248594.6	+	8	967	c.695delG	c.(694-696)agt>at	p.S232fs	PTPN12_ENST00000415482.2_Splice_Site_p.S113fs|PTPN12_ENST00000435495.2_Splice_Site_p.S102fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	232	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATTCATTGCAGGTACAAAAGA	0.294		NA											False	2	False	7:77230123	0
PTPN12	0	broad.mit.edu	37	7	77268050	77268051	+	Splice_Site	INS	-	-	TTTGGTAATCGATGTGGAAAACCCAAAGGACCAAG			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:77268050_77268051insTTTGGTAATCGATGTGGAAAACCCAAAGGACCAAG	ENST00000248594.6	+	17	2553		c.e17+2		PTPN12_ENST00000415482.2_Splice_Site|PTPN12_ENST00000435495.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	NA						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CAGATATTGGTAATTTGTTTAA	0.347		NA											False	0	False	7:77268050	0
ATM	472	broad.mit.edu	37	11	108199926	108199926	+	Missense_Mutation	SNP	A	A	G	rs121434221		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:108199926A>G	ENST00000278616.4	+	49	7653	c.7268A>G	c.(7267-7269)gAa>gGa	p.E2423G	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.E2423G	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2423	FAT.		E -> G (in mantle cell lymphoma).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2423G(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCCAAAGAGGAAGTAGGTCTC	0.368		NA	"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	False	11:108199926	0
PCDHGA9	0	broad.mit.edu	37	5	140783647	140783647	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140783647C>T	ENST00000573521.1	+	1	1128	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1				NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGACTCCGGGAAGAATG	0.408		NA											False	0	True	5:140783647	0
GABRB2	0	broad.mit.edu	37	5	160721244	160721244	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:160721244C>T	ENST00000274547.2	-	11	1600	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	GABRB2_ENST00000353437.6_Silent_p.A423A|GABRB2_ENST00000520240.1_Silent_p.A423A|GABRB2_ENST00000517547.1_Silent_p.A263A|GABRB2_ENST00000393959.1_Silent_p.A461A|GABRB2_ENST00000517901.1_Silent_p.A360A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	461					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTCTTTTGCGCCACATGTC	0.517		NA											False	0	False	5:160721244	0
SCN1A	6323	broad.mit.edu	37	2	166911147	166911147	+	Splice_Site	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:166911147C>T	ENST00000423058.2	-	4	620		c.e4+1		AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Splice_Site|SCN1A_ENST00000303395.4_Splice_Site|SCN1A_ENST00000409050.1_Splice_Site	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	NA						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)	AAGGCACTTACGCAAATGTAA	0.343		NA											False	0	False	2:166911147	0
SPATA31D1	389763	broad.mit.edu	37	9	84609178	84609178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:84609178C>T	ENST00000344803.2	+	4	3840	c.3793C>T	c.(3793-3795)Cgt>Tgt	p.R1265C		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA								p.R1265S(4)			NA						CAGCGGAATCCGTGTGGCACA	0.532		NA											False	0	False	9:84609178	0
CLEC4F	165530	broad.mit.edu	37	2	71036948	71036948	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:71036948G>A	ENST00000272367.2	-	6	1657	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	CLEC4F_ENST00000426626.1_Silent_p.I527I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	527	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGTGAGACCGATCCAGTAGT	0.562		NA											False	0	False	2:71036948	0
ANKRD28	23243	broad.mit.edu	37	3	15731728	15731728	+	Splice_Site	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:15731728C>T	ENST00000399451.2	-	18	2039		c.e18-1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	NA						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATGATAGGCCTAGAAATAAA	0.318		NA											False	0	False	3:15731728	0
RP11-333E13.4	0	broad.mit.edu	37	4	40045099	40045099	+	RNA	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:40045099C>T	ENST00000381811.2	-	0	1050					NR_027277.1					NA											NA						CTTGCAGTGGCGTGCAGCCAA	0.557		NA											False	0	False	4:40045099	0
PCED1B	91523	broad.mit.edu	37	12	47629665	47629665	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:47629665G>A	ENST00000546455.1	+	4	1550	c.819G>A	c.(817-819)ccG>ccA	p.P273P	PCED1B_ENST00000432328.1_Silent_p.P273P					PC-esterase domain containing 1B	NA											NA						AACCTGGCCCGAGAGTCGAAG	0.662		NA											False	0	True	12:47629665	0
PCDHA7	0	broad.mit.edu	37	5	140215668	140215668	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140215668C>T	ENST00000525929.1	+	1	1700	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A567V|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1				NA										NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCTGGCGCCTCGGGTG	0.692		NA											False	0	False	5:140215668	0
WNK2	65268	broad.mit.edu	37	9	96080243	96080243	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:96080243G>A	ENST00000297954.4	+	30	6828	c.6828G>A	c.(6826-6828)ccG>ccA	p.P2276P	WNK2_ENST00000395475.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2276					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCACTCAGCCGCGAGGGGGAC	0.672		NA											False	0	False	9:96080243	0
GGT1	2678	broad.mit.edu	37	22	25011062	25011062	+	Missense_Mutation	SNP	C	C	G	rs138472970	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr22:25011062C>G	ENST00000400382.1	+	7	1105	c.350C>G	c.(349-351)aCc>aGc	p.T117S	GGT1_ENST00000406383.2_Missense_Mutation_p.T117S|GGT1_ENST00000400380.1_Missense_Mutation_p.T117S|GGT1_ENST00000400383.1_Missense_Mutation_p.T117S|GGT1_ENST00000248923.4_Missense_Mutation_p.T117S			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	117					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	p.T117S(8)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCTTTGCCACCATGTTCAAC	0.637		NA											False	0	False	22:25011062	0
SERINC2	347735	broad.mit.edu	37	1	31899619	31899619	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:31899619C>T	ENST00000373710.1	+	7	1029	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Silent_p.N247N|SERINC2_ENST00000536384.1_Silent_p.N247N|SERINC2_ENST00000373709.3_Silent_p.N243N	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	243						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TCAGCCTCAACCTCACCTTCT	0.622		NA											False	0	False	1:31899619	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971096	0
KCTD8	386617	broad.mit.edu	37	4	44176848	44176848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:44176848G>A	ENST00000360029.3	-	2	1664	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	461						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R461C(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGCCATTGGCGTTTGCGCTCT	0.363		NA								HNSCC(17;0.042)			False	0	True	4:44176848	0
RGPD8	727851	broad.mit.edu	37	2	113147089	113147089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:113147089G>A	ENST00000302558.3	-	20	3624	c.3433C>T	c.(3433-3435)Cgg>Tgg	p.R1145W	RGPD8_ENST00000409750.1_Missense_Mutation_p.R1005W	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8	NA										endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCTGCCAACCGCTCTAGTTTG	0.458		NA											False	0	False	2:113147089	0
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269		NA											False	0	True	10:51754173	0
PPP1R3A	5506	broad.mit.edu	37	7	113518727	113518727	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:113518727A>C	ENST00000284601.3	-	4	2488	c.2420T>G	c.(2419-2421)tTa>tGa	p.L807*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	807					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACAAATACCTAAACGTGATTC	0.383		NA											False	0	True	7:113518727	0
VWA1	64856	broad.mit.edu	37	1	1374492	1374492	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1374492G>A	ENST00000476993.1	+	3	741	c.663G>A	c.(661-663)acG>acA	p.T221T	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T9T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	221	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCATGCCACGGAGATCACGT	0.711		NA											False	0	False	1:1374492	0
ZNRF4	148066	broad.mit.edu	37	19	5456673	5456673	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:5456673C>T	ENST00000222033.4	+	1	1248	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	391						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGTCCAGCTACGCTCCCGGAG	0.657		NA											False	0	False	19:5456673	0
BTBD11	121551	broad.mit.edu	37	12	108010914	108010914	+	Missense_Mutation	SNP	G	G	A	rs147351765		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:108010914G>A	ENST00000280758.5	+	8	2578	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E684K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E684K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E221K|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	684						integral to membrane	DNA binding	p.E684K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGAGCATGGCGAGGAGAACTA	0.607		NA											False	0	False	12:108010914	0
GYPA	2993	broad.mit.edu	37	4	145038028	145038028	+	Silent	SNP	G	G	A	rs140442202		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:145038028G>A	ENST00000360771.4	-	5	451	c.336C>T	c.(334-336)taC>taT	p.Y112Y	GYPB_ENST00000283126.7_Intron|GYPA_ENST00000535709.1_Silent_p.Y86Y|GYPA_ENST00000512789.1_Silent_p.Y47Y|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Silent_p.Y99Y|GYPA_ENST00000503627.1_Silent_p.Y67Y|GYPA_ENST00000504786.1_Silent_p.Y80Y|GYPA_ENST00000324022.10_Silent_p.Y79Y	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	112					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GGCGAATACCGTAAGAAATTA	0.368		NA											False	0	False	4:145038028	0
RP11-488I20.3	0	broad.mit.edu	37	16	34624140	34624140	+	RNA	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:34624140G>A	ENST00000569242.1	+	0	1986					NR_027079.1					NA											NA						GCCGTGGCTCGCAGCCATCAC	0.438		NA											False	0	False	16:34624140	0
PDGFRB	5159	broad.mit.edu	37	5	149499063	149499063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:149499063C>T	ENST00000261799.4	-	20	3234	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	922	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.R922H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCCATGCGGTAACCCCG	0.537		NA	T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								False	0	False	5:149499063	0
C20orf112	140688	broad.mit.edu	37	20	31043974	31043974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:31043974C>T	ENST00000359676.5	-	3	476	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	112										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCGTCGGCACCGCAGCCATCC	0.652		NA											False	0	False	20:31043974	0
IRF4	3662	broad.mit.edu	37	6	401644	401644	+	Silent	SNP	C	C	T	rs113364548	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr6:401644C>T	ENST00000380956.4	+	7	1092	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	322					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TGGCCCCCGACGGGCTCTATG	0.607		NA	T	IGH@	MM								False	0	True	6:401644	0
PCDH9	5101	broad.mit.edu	37	13	66879140	66879140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr13:66879140C>A	ENST00000544246.1	-	5	4052	c.3361G>T	c.(3361-3363)Gga>Tga	p.G1121*	PCDH9_ENST00000456367.1_Nonsense_Mutation_p.G1087*|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.G1087*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.G1121*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1121					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCAGCTAATCCTCGGGGACCC	0.428		NA											False	0	False	13:66879140	0
LILRA2	0	broad.mit.edu	37	19	55086976	55086976	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:55086976C>T	ENST00000251377.3	+	6	1042	c.909C>T	c.(907-909)tcC>tcT	p.S303S	LILRA2_ENST00000251376.3_Silent_p.S303S|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.S291S|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	NA								p.S303S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCTCTCCTCCGAGTGGTCGG	0.672		NA											False	0	False	19:55086976	0
RBM14	10432	broad.mit.edu	37	11	66393976	66393976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:66393976G>A	ENST00000310137.4	+	3	1986	c.1847G>A	c.(1846-1848)cGt>cAt	p.R616H	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	616					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GATTACCGCCGTTTATCAGAG	0.562		NA											False	0	True	11:66393976	0
ZNF493	284443	broad.mit.edu	37	19	21587968	21587968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:21587968C>T	ENST00000392288.2	+	2	177	c.68C>T	c.(67-69)tCt>tTt	p.S23F	ZNF493_ENST00000355504.4_Intron|ZNF493_ENST00000596302.1_Missense_Mutation_p.S23F|ZNF493_ENST00000594390.1_Missense_Mutation_p.S23F|ZNF493_ENST00000339914.6_Missense_Mutation_p.S23F|CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.S3F	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAGAATTCTCTCTGGAGGAG	0.448		NA											False	0	True	19:21587968	0
LRP1B	53353	broad.mit.edu	37	2	141457900	141457900	+	Nonsense_Mutation	SNP	G	G	A	rs111904937		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:141457900G>A	ENST00000389484.3	-	41	7689	c.6718C>T	c.(6718-6720)Cga>Tga	p.R2240*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2240					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAAGATTCGGTTGGTACCT	0.338		NA								TSP Lung(27;0.18)			False	0	False	2:141457900	0
LYZ	4069	broad.mit.edu	37	12	69744008	69744008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:69744008G>A	ENST00000261267.2	+	2	325	c.257G>A	c.(256-258)gGc>gAc	p.G86D	LYZ_ENST00000549690.1_Missense_Mutation_p.G86D|LYZ_ENST00000548839.1_Missense_Mutation_p.G86D	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	86					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TGTAATGATGGCAAAACCCCA	0.413		NA											False	0	False	12:69744008	0
GGT1	2678	broad.mit.edu	37	22	25011027	25011027	+	Silent	SNP	C	C	T	rs112364951	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr22:25011027C>T	ENST00000400382.1	+	7	1070	c.315C>T	c.(313-315)aaC>aaT	p.N105N	GGT1_ENST00000406383.2_Silent_p.N105N|GGT1_ENST00000400380.1_Silent_p.N105N|GGT1_ENST00000400383.1_Silent_p.N105N|GGT1_ENST00000248923.4_Silent_p.N105N			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	105					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AGGTCATCAACGCCCGCGAGG	0.637		NA											False	0	False	22:25011027	0
TNFSF12	8742	broad.mit.edu	37	17	7460597	7460597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7460597G>A	ENST00000293825.6	+	7	943	c.680G>A	c.(679-681)cGc>cAc	p.R227H	TNFSF12_ENST00000557233.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000462811.1_3'UTR	NM_003809.2	NP_003800.1			tumor necrosis factor (ligand) superfamily, member 12	NA										central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTGCGGATCCGCACCCTCCCC	0.677		NA											False	0	False	17:7460597	0
ENDOG	2021	broad.mit.edu	37	9	131584646	131584646	+	Silent	SNP	C	C	A	rs141194619		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:131584646C>A	ENST00000372642.4	+	3	862	c.651C>A	c.(649-651)gtC>gtA	p.V217V	C9orf114_ENST00000361256.5_3'UTR	NM_004435.2	NP_004426.2	Q14249	NUCG_HUMAN	endonuclease G	217						mitochondrion	endonuclease activity|metal ion binding|nucleic acid binding				NA						AGTACCAGGTCATCGGCAAGA	0.587		NA											False	0	False	9:131584646	0
ACP6	51205	broad.mit.edu	37	1	147131792	147131792	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:147131792G>A	ENST00000369238.6	-	2	765	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ACP6_ENST00000392988.2_Silent_p.Y106Y	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	NA					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ATTGAGAGTCGTAAGGAGAAT	0.507		NA											False	0	False	1:147131792	0
SORCS1	114815	broad.mit.edu	37	10	108923788	108923788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:108923788G>A	ENST00000263054.6	-	1	504	c.497C>T	c.(496-498)gCg>gTg	p.A166V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	166						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCGTCAGCGCAAACGTGGT	0.607		NA											False	0	False	10:108923788	0
RNF43	54894	broad.mit.edu	37	17	56437563	56437563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:56437563T>C	ENST00000584437.1	-	7	2854	c.899A>G	c.(898-900)gAc>gGc	p.D300G	RNF43_ENST00000581868.1_Missense_Mutation_p.D173G|RNF43_ENST00000577716.1_Missense_Mutation_p.D300G|RNF43_ENST00000500597.2_Missense_Mutation_p.D259G|RNF43_ENST00000577625.1_Missense_Mutation_p.D173G|RNF43_ENST00000583753.1_Missense_Mutation_p.D259G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.D300G			Q68DV7	RNF43_HUMAN	ring finger protein 43	300						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAACCAGGGGTCCACACAGTT	0.532		NA											False	0	True	17:56437563	0
HMCN1	83872	broad.mit.edu	37	1	185902879	185902879	+	Missense_Mutation	SNP	A	A	G	rs143393655		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:185902879A>G	ENST00000271588.4	+	11	1980	c.1751A>G	c.(1750-1752)aAc>aGc	p.N584S	HMCN1_ENST00000367492.2_Missense_Mutation_p.N584S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	584	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGAAATTCAACGATGCTGGA	0.463		NA											False	0	False	1:185902879	0
DHX15	1665	broad.mit.edu	37	4	24578266	24578266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:24578266C>T	ENST00000336812.4	-	2	263	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	36					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ATCTTTAGACCGATCTTCACG	0.418		NA											False	0	False	4:24578266	0
DYSF	8291	broad.mit.edu	37	2	71740934	71740934	+	Silent	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:71740934T>C	ENST00000258104.3	+	6	823	c.546T>C	c.(544-546)gcT>gcC	p.A182A	DYSF_ENST00000409762.1_Silent_p.A213A|DYSF_ENST00000409744.1_Silent_p.A183A|DYSF_ENST00000394120.2_Silent_p.A183A|DYSF_ENST00000409582.3_Silent_p.A213A|DYSF_ENST00000409651.1_Silent_p.A214A|DYSF_ENST00000429174.2_Silent_p.A182A|DYSF_ENST00000410041.1_Silent_p.A214A|DYSF_ENST00000410020.3_Silent_p.A214A|DYSF_ENST00000409366.1_Silent_p.A183A|DYSF_ENST00000413539.2_Silent_p.A213A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	182						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCCGGGGGCTCCCACCACCC	0.582		NA											False	0	True	2:71740934	0
PCDHGA1	0	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140712339G>A	ENST00000517417.1	+	1	2088	c.2088G>A	c.(2086-2088)gcG>gcA	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1				NA								p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672		NA											False	0	True	5:140712339	0
GABRD	2563	broad.mit.edu	37	1	1961126	1961126	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1961126C>T	ENST00000378585.4	+	8	1067	c.984C>T	c.(982-984)taC>taT	p.Y328Y		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	328						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGGTGGAGTACGCCTTTGCTC	0.612		NA											False	0	False	1:1961126	0
NRXN3	9369	broad.mit.edu	37	14	80328016	80328016	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:80328016G>A	ENST00000281127.7	+	6	1887	c.1008G>A	c.(1006-1008)acG>acA	p.T336T	NRXN3_ENST00000557594.1_Silent_p.T541T|NRXN3_ENST00000335750.5_Silent_p.T965T|NRXN3_ENST00000554719.1_Silent_p.T965T|NRXN3_ENST00000428277.2_Silent_p.T363T|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	541					angiogenesis|cell adhesion	integral to membrane		p.T965T(1)|p.T363T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAAACCCCACGGAGCCGGGAA	0.597		NA											False	0	False	14:80328016	0
C9orf172	389813	broad.mit.edu	37	9	139739952	139739952	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:139739952C>T	ENST00000436881.1	+	1	1086	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	362	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GCTATGTCCCCGAGGAGCCCC	0.697		NA											False	0	True	9:139739952	0
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:37881332G>A	ENST00000406381.2	+	23	2944	c.2434G>A	c.(2434-2436)Gta>Ata	p.V812I	ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			False	0	False	17:37881332	0
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:125396503G>A	ENST00000536769.1	-	1	3391	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000339647.5_Silent_p.L605L			P0CG48	UBC_HUMAN	ubiquitin C	605	Ubiquitin-like 8.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L605L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537		NA											False	0	False	12:125396503	0
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:372257C>T	ENST00000432829.2	+	18	2192	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448		NA											False	0	False	9:372257	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389179	39389179	+	Silent	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567		NA											False	0	False	17:39389179	0
KIAA0586	9786	broad.mit.edu	37	14	58927860	58927860	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:58927860G>T	ENST00000423743.3	+	15	2167	c.1909G>T	c.(1909-1911)Gta>Tta	p.V637L	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.V734L|KIAA0586_ENST00000261244.5_Missense_Mutation_p.V605L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.V666L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	605										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGACCAAAAGTAATAGAACG	0.323		NA											False	0	True	14:58927860	0
SCN5A	6331	broad.mit.edu	37	3	38627422	38627422	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:38627422G>A	ENST00000413689.1	-	16	2740	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	SCN5A_ENST00000443581.1_Silent_p.I849I|SCN5A_ENST00000425664.1_Silent_p.I849I|SCN5A_ENST00000449557.2_Silent_p.I849I|SCN5A_ENST00000414099.2_Silent_p.I849I|SCN5A_ENST00000451551.2_Silent_p.I849I|SCN5A_ENST00000333535.4_Silent_p.I849I|SCN5A_ENST00000423572.2_Silent_p.I849I|SCN5A_ENST00000455624.2_Silent_p.I849I|SCN5A_ENST00000450102.2_Silent_p.I849I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	849					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGATGAACACGATGATGGCTA	0.567		NA											False	0	False	3:38627422	0
PCMTD1	115294	broad.mit.edu	37	8	52732960	52732960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr8:52732960G>A	ENST00000360540.5	-	7	1431	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.P266L|PCMTD1_ENST00000522514.1_Missense_Mutation_p.P342L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	342						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.P342L(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCAGGGAGGGGCAGCTTCAT	0.353		NA											False	0	True	8:52732960	0
FAM86C2P	0	broad.mit.edu	37	11	67560590	67560590	+	RNA	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:67560590C>T	ENST00000528089.1	-	0	1160										NA											NA						AAGTTTTATCCGCTTTCCCAT	0.413		NA											False	0	False	11:67560590	0
CYP19A1	0	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R|CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	390					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGTCCCCTTTTTCACTGG	0.413		NA											False	0	True	15:51504611	0
ATP1A3	478	broad.mit.edu	37	19	42480634	42480634	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:42480634G>A	ENST00000545399.1	-	15	2220	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	ATP1A3_ENST00000543770.1_Silent_p.T687T|ATP1A3_ENST00000302102.5_Silent_p.T676T|ATP1A3_ENST00000602133.1_Silent_p.T646T	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	676					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGACGATCTCGGTGTGATTCT	0.622		NA											False	0	False	19:42480634	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7577121	0
AK9	221264	broad.mit.edu	37	6	109850109	109850109	+	Silent	SNP	G	G	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr6:109850109G>T	ENST00000355283.1	-	5	1221	c.975C>A	c.(973-975)ctC>ctA	p.L325L	AK9_ENST00000341338.6_Intron|AK9_ENST00000424296.2_Intron					adenylate kinase 9	NA											NA						aggatcccttgagcccaggag	0.502		NA											False	0	False	6:109850109	0
LINGO2	158038	broad.mit.edu	37	9	27949236	27949236	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:27949236G>A	ENST00000379992.2	-	6	1883	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	LINGO2_ENST00000308675.3_Silent_p.S478S	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	478	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATACATCCCGCTGTCTTGAT	0.502		NA											False	0	True	9:27949236	0
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368398.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368396.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711		NA	T	IGH@	B-NHL								False	0	True	1:155161799	0
HOXC10	3226	broad.mit.edu	37	12	54379388	54379388	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:54379388C>T	ENST00000303460.4	+	1	419	c.345C>T	c.(343-345)agC>agT	p.S115S		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	115					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GCATGTACAGCGCAGAGAAGC	0.622		NA											False	0	False	12:54379388	0
BIRC7	79444	broad.mit.edu	37	20	61867525	61867525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:61867525C>T	ENST00000217169.3	+	1	291	c.77C>T	c.(76-78)aCg>aTg	p.T26M	BIRC7_ENST00000342412.6_Missense_Mutation_p.T26M	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	26					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GATGGTCCCACGCAGGAGCGC	0.662		NA											False	0	False	20:61867525	0
FLG	2312	broad.mit.edu	37	1	152280068	152280068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:152280068C>T	ENST00000368799.1	-	3	7329	c.7294G>A	c.(7294-7296)Ggg>Agg	p.G2432R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2432	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)			GTGCTGGTCCCGGTCCGTCCA	0.592		NA							Ichthyosis				False	0	True	1:152280068	0
CLEC2D	29121	broad.mit.edu	37	12	9840545	9840545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:9840545G>A	ENST00000261340.7	+	3	242	c.220G>A	c.(220-222)Gca>Aca	p.A74T	CLEC2D_ENST00000543300.1_Missense_Mutation_p.A74T|CLEC2D_ENST00000545918.1_Missense_Mutation_p.A37T|CLEC2D_ENST00000290855.6_Missense_Mutation_p.A74T|CLEC2D_ENST00000261339.6_Missense_Mutation_p.A37T	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	74					cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						TCTTCAAGCTGCATGCCCAGA	0.328		NA											False	0	False	12:9840545	0
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C					neuroblastoma breakpoint family, member 20	NA								p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507		NA											False	0	False	1:148346684	0
CNTNAP5	129684	broad.mit.edu	37	2	125367458	125367458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:125367458G>A	ENST00000431078.1	+	12	2198	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	612	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGATGGCAGCGGCCCACTGGG	0.532		NA											False	0	False	2:125367458	0
MMRN1	22915	broad.mit.edu	37	4	90872776	90872776	+	Silent	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:90872776C>A	ENST00000394980.1	+	8	3458	c.3139C>A	c.(3139-3141)Cgg>Agg	p.R1047R	MMRN1_ENST00000394981.1_Silent_p.R350R|MMRN1_ENST00000264790.2_Silent_p.R1047R|MMRN1_ENST00000508372.1_Silent_p.R789R			Q13201	MMRN1_HUMAN	multimerin 1	1047	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGCTGTAGTCGGCATCCGTG	0.433		NA											False	0	False	4:90872776	0
ANTXR1	84168	broad.mit.edu	37	2	69409641	69409641	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:69409641A>G	ENST00000303714.4	+	16	1524	c.1202A>G	c.(1201-1203)aAg>aGg	p.K401R		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	401					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGAGAAAAGGGCTCCACA	0.418		NA							Familial Infantile Hemangioma				False	0	True	2:69409641	0
SPDYE4	388333	broad.mit.edu	37	17	8656711	8656711	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:8656711G>A	ENST00000328794.6	-	5	758	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	194										breast(1)|endometrium(2)|kidney(1)	4						GAAGCTTATGGAACAAGGGTC	0.577		NA											False	0	False	17:8656711	0
OR10G7	390265	broad.mit.edu	37	11	123908881	123908881	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:123908881G>A	ENST00000330487.5	-	1	836	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGTCAGCGTGGTGTAGAAAA	0.498		NA											False	0	False	11:123908881	0
CALN1	83698	broad.mit.edu	37	7	71252799	71252799	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:71252799C>T	ENST00000395275.2	-	7	1135	c.747G>A	c.(745-747)ctG>ctA	p.L249L	CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000395276.2_Silent_p.L207L|CALN1_ENST00000329008.5_Silent_p.L207L|CALN1_ENST00000431984.1_Silent_p.L207L	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	207						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.L249L(1)|p.L207L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGCTGCAATCAGCATGACAC	0.592		NA											False	0	False	7:71252799	0
PSMB4	5692	broad.mit.edu	37	1	151372491	151372491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:151372491G>A	ENST00000290541.6	+	2	229	c.175G>A	c.(175-177)Gtt>Att	p.V59I		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	59					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|interspecies interaction between organisms|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTCCTCGGCGTTAAGTTCGA	0.592		NA											False	0	False	1:151372491	0
SNHG14	0	broad.mit.edu	37	15	25436402	25436402	+	RNA	SNP	G	G	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr15:25436402G>T	ENST00000424208.1	+	0	997				SNHG14_ENST00000414175.1_RNA	NR_003305.1					NA											NA						GACCCCAGAGGAAGACTTGCG	0.632		NA											False	0	False	15:25436402	0
USP20	0	broad.mit.edu	37	9	132640646	132640646	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:132640646G>A	ENST00000315480.4	+	23	2597	c.2439G>A	c.(2437-2439)tcG>tcA	p.S813S	USP20_ENST00000358355.1_Silent_p.S813S|USP20_ENST00000372429.3_Silent_p.S813S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	813	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCGAGGAGTCGCCGGGCGTCA	0.607		NA											False	0	False	9:132640646	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
KCNB1	3745	broad.mit.edu	37	20	48098546	48098546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:48098546G>A	ENST00000371741.4	-	1	638	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	158					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCGCCTTCCCGCTCCCGTAGG	0.582		NA											False	0	True	20:48098546	0
SPNS3	201305	broad.mit.edu	37	17	4348390	4348390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:4348390G>A	ENST00000355530.2	+	3	609	c.329G>A	c.(328-330)cGc>cAc	p.R110H	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	110					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGACATAGCCGCAAGGCTACC	0.612		NA											False	0	False	17:4348390	0
PIK3C2A	5286	broad.mit.edu	37	11	17172170	17172170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:17172170C>T	ENST00000265970.7	-	3	1201	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R21H|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	401					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R401H(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGGGTTTGTGCGGTGATTGGT	0.373		NA											False	0	False	11:17172170	0
DOCK10	55619	broad.mit.edu	37	2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:225659771C>T	ENST00000409592.3	-	45	5074	c.4961G>A	c.(4960-4962)cGt>cAt	p.R1654H	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1660H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660	DHR-2.						GTP binding	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478		NA											False	0	False	2:225659771	0
CEP85	64793	broad.mit.edu	37	1	26581980	26581980	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:26581980C>T	ENST00000252992.4	+	4	658	c.527C>T	c.(526-528)gCg>gTg	p.A176V	CEP85_ENST00000451429.2_Missense_Mutation_p.A125V	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	176						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CAAGAAGAGGCGAGGAAGTTT	0.473		NA											False	0	False	1:26581980	0
GOLGA6L5	0	broad.mit.edu	37	15	85053127	85053127	+	RNA	SNP	T	T	G			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr15:85053127T>G	ENST00000414190.2	-	0	325					NR_003246.2					NA											NA						ATGTTTTGTTTTTTTTTTTTC	0.363		NA											False	0	True	15:85053127	0
CCND2	894	broad.mit.edu	37	12	4383259	4383259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:4383259G>A	ENST00000261254.3	+	1	322	c.53G>A	c.(52-54)cGc>cAc	p.R18H	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	18					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GTGCGGGACCGCAACCTGCTC	0.667		NA	T	IGL@	"""NHL,CLL"""								False	0	False	12:4383259	0
CPPED1	55313	broad.mit.edu	37	16	12875142	12875142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:12875142C>A	ENST00000381774.4	-	2	429	c.189G>T	c.(187-189)caG>caT	p.Q63H	CPPED1_ENST00000433677.2_Missense_Mutation_p.Q63H|CPPED1_ENST00000261660.4_Missense_Mutation_p.Q63H	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	63							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GACGGATCTCCTGTTCCCATT	0.567		NA											False	0	False	16:12875142	0
EPHA8	2046	broad.mit.edu	37	1	22925390	22925390	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:22925390C>T	ENST00000166244.3	+	13	2310	c.2238C>T	c.(2236-2238)gcC>gcT	p.A746A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	746	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGTGGGTGCCGGCATGCGCT	0.627		NA											False	0	False	1:22925390	0
ZDHHC11	79844	broad.mit.edu	37	5	825360	825360	+	Silent	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGCTCTTGGCTTTGACTCTGG	0.552		NA											False	0	True	5:825360	0
CACNA1B	774	broad.mit.edu	37	9	140880965	140880965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:140880965G>A	ENST00000371372.1	+	14	2015	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A624T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A624T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A625T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A625T|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	624					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTGGTCTTCGCCCTGCTGGG	0.597		NA											False	0	True	9:140880965	0
C16orf62	57020	broad.mit.edu	37	16	19621689	19621689	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:19621689G>A	ENST00000438132.3	+	12	1290	c.1242G>A	c.(1240-1242)ggG>ggA	p.G414G	C16orf62_ENST00000448695.1_Silent_p.G175G|C16orf62_ENST00000543152.1_Silent_p.G74G|C16orf62_ENST00000542263.1_Silent_p.G414G|C16orf62_ENST00000251143.5_Silent_p.G325G|C16orf62_ENST00000417362.2_Silent_p.G325G	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	325						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGATCAGAGGGATCGGAGACC	0.572		NA											False	0	True	16:19621689	0
NAALADL2	254827	broad.mit.edu	37	3	174815006	174815006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:174815006C>A	ENST00000454872.1	+	2	598	c.470C>A	c.(469-471)tCa>tAa	p.S157*	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	157					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCTCCATCTTCAGGAACAGTT	0.358		NA											False	0	False	3:174815006	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316570	39316570	+	Missense_Mutation	SNP	T	T	C	rs111563615		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:39316570T>C	ENST00000390661.3	-	1	413	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGACACACAGTAGCTGGGGCA	0.667		NA											False	0	False	17:39316570	0
SERPINA7	6906	broad.mit.edu	37	X	105277592	105277592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chrX:105277592G>A	ENST00000327674.4	-	4	1482	c.1147C>T	c.(1147-1149)Cct>Tct	p.P383S	SERPINA7_ENST00000372563.1_Missense_Mutation_p.P383S			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	383			P -> L (in TBG deficiency; Kumamoto).		regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATAATAGGGTGTAGGAAA	0.438		NA											False	0	True	X:105277592	0
TNIP1	10318	broad.mit.edu	37	5	150422486	150422486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:150422486G>A	ENST00000389378.2	-	10	1561	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	325	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGGACCGGAAATGCTGG	0.552		NA											False	0	False	5:150422486	0
