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
RPL22	6146	broad.mit.edu	37	1	6257817	6257818	+	Translation_Start_Site	INS	-	-	ACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:6257817_6257818insACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT	ENST00000484532.1	-	0	0				RPL22_ENST00000234875.4_Splice_Site|RPL22_ENST00000497965.1_Splice_Site			P35268	RL22_HUMAN	ribosomal protein L22	NA					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGCTTTTTCTAAGAAAATAC	0.386		NA	T	RUNX1	"""AML, CML"""								False	0	False	1:6257817	0
CASQ2	845	broad.mit.edu	37	1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-	rs7413162	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404		NA											False	1	True	1:116243875	0
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
ZBTB21	49854	broad.mit.edu	37	21	43411549	43411551	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr21:43411549_43411551delCCT	ENST00000398505.3	-	4	2234_2236	c.2051_2053delAGG	c.(2050-2055)gaggct>gct	p.E684del	ZBTB21_ENST00000398499.1_In_Frame_Del_p.E885del|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000310826.5_In_Frame_Del_p.E885del|ZBTB21_ENST00000398511.3_In_Frame_Del_p.E885del	NM_001098403.1	NP_001091873.1			zinc finger and BTB domain containing 21	NA								p.E885A(2)			NA						TCTTCTTCAGCCTCCTCCACAGG	0.532		NA											False	2	False	21:43411549	0
MYO18B	84700	broad.mit.edu	37	22	26348272	26348274	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CAT	CAT	-	-	CAT	CAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:26348272_26348274delCAT	ENST00000407587.2	+	38	6025_6027	c.5856_5858delCAT	c.(5854-5859)cgcatc>cgc	p.I1953del	MYO18B_ENST00000536101.1_In_Frame_Del_p.I1952del|MYO18B_ENST00000335473.7_In_Frame_Del_p.I1952del			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1952	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCAGATGCGCATCGAGTACCTG	0.547		NA											False	1	False	22:26348272	0
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557		NA											False	1	False	X:50350672	0
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:12785492_12785493insT	ENST00000332530.3	+	3	598_599	c.372_373insT	c.(373-375)tgtfs	p.C125fs	AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.C195fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455		NA											False	1	False	1:12785492	0
HSPE1	3336	broad.mit.edu	37	2	198367853	198367854	+	Splice_Site	INS	-	-	ATTATT			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:198367853_198367854insATTATT	ENST00000409729.1	+	2	390		c.e2+1		HSPE1_ENST00000409468.1_In_Frame_Ins_p.87_87V>DYL|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_Splice_Site|HSPE1_ENST00000233893.5_Splice_Site					heat shock 10kDa protein 1	NA										lung(1)	1			Epithelial(96;0.225)			AGATGACAAGGTGTGTAAACTT	0.342		NA											False	0	True	2:198367853	0
ABI2	10152	broad.mit.edu	37	2	204267424	204267427	+	Frame_Shift_Del	DEL	ATGA	ATGA	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	ATGA	ATGA	-	-	ATGA	ATGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204267424_204267427delATGA	ENST00000422511.2	+	9	1091_1094	c.1060_1063delATGA	c.(1060-1065)atgaatfs	p.MN354fs	ABI2_ENST00000261018.7_Frame_Shift_Del_p.MN173fs|ABI2_ENST00000295851.4_Frame_Shift_Del_p.MN387fs|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Frame_Shift_Del_p.MN332fs|ABI2_ENST00000261016.6_Frame_Shift_Del_p.MN275fs|ABI2_ENST00000424558.1_Frame_Shift_Del_p.MN381fs|ABI2_ENST00000261017.5_Frame_Shift_Del_p.MN320fs|RAPH1_ENST00000457812.1_Intron			Q9NYB9	ABI2_HUMAN	abl-interactor 2	387	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TCAGAATCAGATGAATGGAGGACC	0.407		NA											False	1	False	2:204267424	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
DHX29	54505	broad.mit.edu	37	5	54579096	54579097	+	Frame_Shift_Ins	INS	-	-	GTCCC			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:54579096_54579097insGTCCC	ENST00000251636.5	-	11	2047_2048	c.1899_1900insGGGAC	c.(1897-1902)atctcafs	p.S634fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	634	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTAACTGCTGAGATTCTTCGGG	0.416		NA											False	0	False	5:54579096	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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
CSNK1G3	1456	broad.mit.edu	37	5	122911485	122911487	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:122911485_122911487delCTT	ENST00000360683.2	+	5	531_533	c.501_503delCTT	c.(499-504)aacttc>aac	p.F168del	CSNK1G3_ENST00000512718.3_In_Frame_Del_p.F93del|CSNK1G3_ENST00000361991.2_In_Frame_Del_p.F168del|CSNK1G3_ENST00000510842.2_In_Frame_Del_p.F168del|CSNK1G3_ENST00000511130.2_In_Frame_Del_p.F55del|CSNK1G3_ENST00000395411.1_In_Frame_Del_p.F168del|CSNK1G3_ENST00000521364.1_In_Frame_Del_p.F168del|CSNK1G3_ENST00000345990.4_In_Frame_Del_p.F168del|CSNK1G3_ENST00000395412.1_In_Frame_Del_p.F168del			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	168	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AACCTGAGAACTTCTTAATAGGA	0.335		NA											False	2	False	5:122911485	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Frame_Shift_Del	DEL	C	C	-	rs72613250		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:109850201delC	ENST00000355283.1	-	5	1129	c.883delG	c.(883-885)gttfs	p.V295fs	AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron					adenylate kinase 9	NA											NA						aaaaaaaaaacaaaaCTACTT	0.413		NA											False	1	True	6:109850201	0
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552		NA											False	1	True	7:44153778	0
LZTS1	11178	broad.mit.edu	37	8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	rs148039718	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657		NA											False	1	True	8:20107683	0
PCDH12	51294	broad.mit.edu	37	5	141335640	141335640	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:141335640C>T	ENST00000231484.3	-	1	2987	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	593					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGAGTCTCGATGGGCACC	0.597		NA											False	0	False	5:141335640	0
NTNG2	84628	broad.mit.edu	37	9	135073821	135073821	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:135073821C>T	ENST00000393229.3	+	3	1458	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	NTNG2_ENST00000372179.3_Missense_Mutation_p.R228C|NTNG2_ENST00000360670.3_Missense_Mutation_p.R228C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R228C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	228	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCCCGACCTGCGCAACATGGA	0.667		NA											False	0	False	9:135073821	0
NBEAL1	65065	broad.mit.edu	37	2	204009874	204009874	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204009874C>T	ENST00000449802.1	+	32	5541	c.5208C>T	c.(5206-5208)ctC>ctT	p.L1736L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1736							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGCAAGCTCAAATTTCAGG	0.333		NA											False	0	True	2:204009874	0
RARRES3	5920	broad.mit.edu	37	11	63307030	63307030	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:63307030C>T	ENST00000439013.2	+	2	105	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RARRES3_ENST00000255688.3_Missense_Mutation_p.R18C|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.R18C			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	18					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGAGATTTTCCGCCTTGGCTA	0.483		NA											False	0	False	11:63307030	0
EYS	346007	broad.mit.edu	37	6	66063415	66063415	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:66063415G>C	ENST00000503581.1	-	9	1932	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	EYS_ENST00000342421.5_Missense_Mutation_p.F465L|EYS_ENST00000370621.3_Missense_Mutation_p.F465L|EYS_ENST00000370618.3_Missense_Mutation_p.F465L|EYS_ENST00000370616.2_Missense_Mutation_p.F465L|EYS_ENST00000393380.2_Missense_Mutation_p.F465L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATACCATGGAAGGTGACTC	0.373		NA											False	0	False	6:66063415	0
COL5A3	50509	broad.mit.edu	37	19	10097024	10097024	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:10097024G>A	ENST00000264828.3	-	30	2404	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	773	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCCTCCTCGCCAGCCTGCC	0.612		NA											False	0	False	19:10097024	0
GRAMD1A	57655	broad.mit.edu	37	19	35500042	35500042	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:35500042C>T	ENST00000599564.1	+	3	360	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R10W|GRAMD1A_ENST00000598073.1_3'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	10	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACTCTGGCCGGAGCACGCC	0.622		NA											False	0	False	19:35500042	0
TPO	7173	broad.mit.edu	37	2	1520713	1520713	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:1520713C>T	ENST00000345913.4	+	15	2668	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	TPO_ENST00000349624.3_Silent_p.I686I|TPO_ENST00000329066.4_Silent_p.I859I|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Silent_p.I815I|TPO_ENST00000382198.1_Silent_p.I686I|TPO_ENST00000337415.3_Silent_p.I859I|TPO_ENST00000382201.3_Silent_p.I802I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	859					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTGCTGATCGGAGGCTTCG	0.547		NA											False	0	False	2:1520713	0
FRMPD2	143162	broad.mit.edu	37	10	49457187	49457187	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:49457187G>A	ENST00000374201.3	-	3	488	c.186C>T	c.(184-186)gcC>gcT	p.A62A	FRMPD2_ENST00000305531.3_Silent_p.A60A|FRMPD2_ENST00000407470.4_Silent_p.A53A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	62	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAAGCAGGGCTGACCAGG	0.552		NA											False	0	True	10:49457187	0
HEATR3	55027	broad.mit.edu	37	16	50112735	50112735	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:50112735G>A	ENST00000299192.7	+	7	1038	c.847G>A	c.(847-849)Gtt>Att	p.V283I	HEATR3_ENST00000285767.4_Missense_Mutation_p.V197I	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	283							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTATCTGAAGTTTTGGGAAT	0.378		NA											False	0	True	16:50112735	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	C	rs121913385		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:21971111G>C	ENST00000579755.1	-	2	582	c.290C>G	c.(289-291)gCa>gGa	p.A97G	CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971111	0
KIAA1551	55196	broad.mit.edu	37	12	32135653	32135653	+	Silent	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:32135653T>C	ENST00000312561.4	+	4	2178	c.1764T>C	c.(1762-1764)ctT>ctC	p.L588L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551	NA											NA						TCGCTTTGCTTTCACAGGCAC	0.358		NA											False	0	True	12:32135653	0
CHML	1122	broad.mit.edu	37	1	241799053	241799053	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:241799053G>A	ENST00000366553.1	-	1	179	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	6					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AACTCTGTGGGAAGATTGTCC	0.433		NA											False	0	True	1:241799053	0
GRID1	2894	broad.mit.edu	37	10	87362370	87362370	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:87362370G>A	ENST00000327946.7	-	16	2775	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.S468L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	897						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGCTCAATCGACGCTGGGGA	0.592		NA								Multiple Myeloma(13;0.14)			False	0	False	10:87362370	0
IGKV1-5	0	broad.mit.edu	37	2	89246938	89246938	+	RNA	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:89246938T>C	ENST00000496168.1	-	0	412										NA											NA						GGGACCCCACTTTCTAAACTA	0.507		NA											False	0	True	2:89246938	0
CLTCL1	8218	broad.mit.edu	37	22	19184149	19184149	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:19184149C>T	ENST00000263200.10	-	25	3964	c.3892G>A	c.(3892-3894)Gag>Aag	p.E1298K	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1298K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1298K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1298	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGATCAGCTCCTCAAAGTAG	0.612		NA	T	?	ALCL								False	0	False	22:19184149	0
ADAMTS16	170690	broad.mit.edu	37	5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:5239938G>A	ENST00000274181.7	+	16	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	808	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512		NA											False	0	True	5:5239938	0
ANKRD30A	91074	broad.mit.edu	37	10	37506771	37506771	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:37506771A>G	ENST00000374660.1	+	39	3520	c.3421A>G	c.(3421-3423)Ata>Gta	p.I1141V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1022V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1022V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1116						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATACAAGATATAGAATTGAA	0.274		NA											False	0	False	10:37506771	0
NRXN2	9379	broad.mit.edu	37	11	64434761	64434761	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:64434761C>T	ENST00000265459.6	-	9	2220	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E587K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	587	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding	p.E587K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACACCACTCGCCATCATTG	0.592		NA											False	0	False	11:64434761	0
PRR11	55771	broad.mit.edu	37	17	57271093	57271093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271093C>T	ENST00000262293.4	+	5	955	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	215										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TAAAGCACTTCAGGTAGGTAA	0.473		NA											False	0	True	17:57271093	0
PRR11	55771	broad.mit.edu	37	17	57271031	57271031	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271031C>T	ENST00000262293.4	+	5	893	c.581C>T	c.(580-582)cCa>cTa	p.P194L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	194	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ccacctctgccacctcctccA	0.522		NA											False	0	False	17:57271031	0
GJB4	127534	broad.mit.edu	37	1	35227279	35227279	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:35227279G>A	ENST00000339480.1	+	2	794	c.424G>A	c.(424-426)Gat>Aat	p.D142N	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	142					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGCCGTGGATGCTGGCTT	0.612		NA											False	0	False	1:35227279	0
OR1A1	8383	broad.mit.edu	37	17	3119669	3119669	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:3119669G>A	ENST00000304094.1	+	1	755	c.755G>A	c.(754-756)gGt>gAt	p.G252D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTATTATGGTACAGTCATG	0.498		NA											False	0	False	17:3119669	0
FAM154A	158297	broad.mit.edu	37	9	18941744	18941744	+	Silent	SNP	C	C	T	rs112030642		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:18941744C>T	ENST00000380534.4	-	3	591	c.312G>A	c.(310-312)acG>acA	p.T104T	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTTTCTTATACGTCGTGAGCA	0.478		NA											False	0	False	9:18941744	0
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453		NA											False	0	False	11:55579400	0
NBEA	26960	broad.mit.edu	37	13	35735929	35735929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:35735929C>T	ENST00000400445.3	+	23	4438	c.3904C>T	c.(3904-3906)Cga>Tga	p.R1302*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.R1302*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.R1302*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R1302*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1302						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCGAGATCTCCGAGTTGATTT	0.433		NA											False	0	False	13:35735929	0
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:7578526C>T	ENST00000420246.2	-	5	536	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000269305.4_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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)		GGCCAGTTGGCAAAACATCTT	0.572		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	True	17:7578526	0
NTNG1	22854	broad.mit.edu	37	1	107979392	107979392	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:107979392C>T	ENST00000370068.1	+	7	2207	c.1361C>T	c.(1360-1362)cCg>cTg	p.P454L	NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.P454L|NTNG1_ENST00000370061.3_Missense_Mutation_p.P420L|NTNG1_ENST00000542803.1_Missense_Mutation_p.P454L|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370070.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	454	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTGTCTGCCGGGAAATTCC	0.517		NA											False	0	True	1:107979392	0
RYBP	23429	broad.mit.edu	37	3	72427709	72427709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:72427709C>T	ENST00000477973.2	-	4	778	c.779G>A	c.(778-780)aGa>aAa	p.R260K		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	NA					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTTAAAGTCTGTGATAATG	0.552		NA											False	0	False	3:72427709	0
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	654	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637		NA											False	0	True	16:343713	0
DYSF	8291	broad.mit.edu	37	2	71741003	71741003	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:71741003T>A	ENST00000258104.3	+	6	892	c.615T>A	c.(613-615)agT>agA	p.S205R	DYSF_ENST00000413539.2_Missense_Mutation_p.S236R|DYSF_ENST00000409366.1_Missense_Mutation_p.S206R|DYSF_ENST00000409651.1_Missense_Mutation_p.S237R|DYSF_ENST00000394120.2_Missense_Mutation_p.S206R|DYSF_ENST00000429174.2_Missense_Mutation_p.S205R|DYSF_ENST00000410041.1_Missense_Mutation_p.S237R|DYSF_ENST00000409762.1_Missense_Mutation_p.S236R|DYSF_ENST00000409744.1_Missense_Mutation_p.S206R|DYSF_ENST00000410020.3_Missense_Mutation_p.S237R|DYSF_ENST00000409582.3_Missense_Mutation_p.S236R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	205						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						GAAAGCGAAGTGCGCCTACAT	0.582		NA											False	0	False	2:71741003	0
PCDH18	54510	broad.mit.edu	37	4	138451227	138451227	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:138451227C>T	ENST00000344876.4	-	1	2402	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PCDH18_ENST00000412923.2_Silent_p.L672L|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.L452L|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	672	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCATGCACTTCAGAAGGACTT	0.423		NA											False	0	False	4:138451227	0
NPAP1	23742	broad.mit.edu	37	15	24921804	24921804	+	Missense_Mutation	SNP	G	G	A	rs138010778	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:24921804G>A	ENST00000329468.2	+	1	1264	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	NA											NA						AGCGCCCCCTGAGCCAGCCGT	0.637		NA											False	0	True	15:24921804	0
FRMPD3	84443	broad.mit.edu	37	X	106845431	106845431	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:106845431T>C	ENST00000276185.4	+	16	4261	c.4261T>C	c.(4261-4263)Tac>Cac	p.Y1421H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1421						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGCTCCCAATTACAGGAAACT	0.617		NA											False	0	False	X:106845431	0
AGAP2	116986	broad.mit.edu	37	12	58127884	58127884	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:58127884G>A	ENST00000257897.3	-	5	551	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	AGAP2_ENST00000547588.1_Missense_Mutation_p.R492C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	492					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R156S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCATGGAGACGGCTCACAGCC	0.592		NA											False	0	False	12:58127884	0
ABHD15	116236	broad.mit.edu	37	17	27889843	27889843	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:27889843G>A	ENST00000307201.4	-	2	1313	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	381						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GCAGGAGGAAGAAGTAGGGGT	0.617		NA											False	0	False	17:27889843	0
COL4A2	1284	broad.mit.edu	37	13	111121596	111121596	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:111121596G>A	ENST00000360467.5	+	28	2434	c.2128G>A	c.(2128-2130)Gca>Aca	p.A710T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	710	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCAGGCTTCGCAGGAGCTGA	0.572		NA											False	0	False	13:111121596	0
CTD-3064M3.7	0	broad.mit.edu	37	8	142445279	142445279	+	RNA	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:142445279G>A	ENST00000606664.1	+	0	635				MROH5_ENST00000430863.1_RNA						NA											NA						CCAGGCCAGCGTGCAGAAGAG	0.682		NA											False	0	False	8:142445279	0
FAM47A	158724	broad.mit.edu	37	X	34150323	34150323	+	Silent	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:34150323G>T	ENST00000346193.3	-	1	124	c.73C>A	c.(73-75)Cgg>Agg	p.R25R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	25										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCCGTTTGTTACAG	0.612		NA											False	0	True	X:34150323	0
WDR47	22911	broad.mit.edu	37	1	109560150	109560150	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:109560150C>A	ENST00000369965.4	-	3	492	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	WDR47_ENST00000400794.3_Missense_Mutation_p.D78Y|WDR47_ENST00000369962.3_Missense_Mutation_p.D78Y|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	78	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTTTTTTTGTCAAATTTTTCC	0.289		NA											False	0	True	1:109560150	0
KCNJ4	3761	broad.mit.edu	37	22	38823340	38823340	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:38823340G>A	ENST00000303592.3	-	2	1056	c.798C>T	c.(796-798)gaC>gaT	p.D266D	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	266					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCTGTCCTCGTCGATCTCGT	0.607		NA											False	0	False	22:38823340	0
KCNN1	3780	broad.mit.edu	37	19	18099263	18099263	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:18099263C>T	ENST00000222249.9	+	7	1418	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	NA					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGTGGTGGCTCGGAAGCTGGA	0.637		NA											False	0	False	19:18099263	0
ZNF267	10308	broad.mit.edu	37	16	31926313	31926313	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:31926313A>G	ENST00000300870.10	+	4	952	c.743A>G	c.(742-744)gAa>gGa	p.E248G		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	248					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAATGTAAAGAATTTGAGGAA	0.303		NA											False	0	False	16:31926313	0
FAM179B	23116	broad.mit.edu	37	14	45431977	45431977	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr14:45431977C>T	ENST00000361462.2	+	1	536	c.353C>T	c.(352-354)gCt>gTt	p.A118V	FAM179B_ENST00000361577.3_Missense_Mutation_p.A118V|FAM179B_ENST00000382233.2_Missense_Mutation_p.A118V			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	118							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTTGCAAGCTGCTTTGCCG	0.617		NA											False	0	False	14:45431977	0
IL1RN	3557	broad.mit.edu	37	2	113885304	113885304	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:113885304A>T	ENST00000259206.5	+	3	234	c.112A>T	c.(112-114)Atg>Ttg	p.M38L	IL1RN_ENST00000409930.3_Missense_Mutation_p.M35L|IL1RN_ENST00000361779.3_Start_Codon_SNP_p.M1L|IL1RN_ENST00000354115.2_Missense_Mutation_p.M17L|IL1RN_ENST00000409052.1_Start_Codon_SNP_p.M1L	NM_173841.2	NP_776213.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	35					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	ATCCAGCAAGATGCAAGCCTT	0.562		NA							Lichen Sclerosis et Atrophicus, Familial Clustering of				False	0	False	2:113885304	0
RP11-14N7.2	0	broad.mit.edu	37	1	148932898	148932898	+	RNA	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:148932898C>T	ENST00000539543.1	+	0	154					NR_027355.2					NA											NA						GCTCAGTCTGCGGCCAAGACT	0.617		NA											False	0	False	1:148932898	0
PEAK1	79834	broad.mit.edu	37	15	77472919	77472919	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:77472919T>C	ENST00000560626.2	-	4	1825	c.1350A>G	c.(1348-1350)atA>atG	p.I450M	PEAK1_ENST00000312493.4_Missense_Mutation_p.I450M|PEAK1_ENST00000558305.1_Missense_Mutation_p.I450M			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	450					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				NA						GGACAAGGTTTATGGTTACTG	0.463		NA											False	0	True	15:77472919	0
PLD3	0	broad.mit.edu	37	19	40882579	40882579	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:40882579C>T	ENST00000409587.1	+	11	1480	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	PLD3_ENST00000356508.5_Silent_p.R361R|PLD3_ENST00000409281.1_Silent_p.R361R|PLD3_ENST00000409419.1_Silent_p.R361R|PLD3_ENST00000409735.4_Silent_p.R361R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	361					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TCAAGGTGCGCCTGCTCATCA	0.642		NA											False	0	False	19:40882579	0
DEFB136	613210	broad.mit.edu	37	8	11831528	11831528	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:11831528G>A	ENST00000382209.2	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	52					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTGGCAGAACGCAATCCACCT	0.458		NA											False	0	False	8:11831528	0
MAP2K7	5609	broad.mit.edu	37	19	7976364	7976364	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:7976364C>T	ENST00000545011.1	+	9	1171	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	MAP2K7_ENST00000397979.3_Missense_Mutation_p.T327M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.T334M|MAP2K7_ENST00000397983.3_Missense_Mutation_p.T343M			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	327	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AACTGCAAGACGGACTTTGAG	0.592		NA											False	0	False	19:7976364	0
ADAD2	161931	broad.mit.edu	37	16	84229512	84229512	+	Missense_Mutation	SNP	G	G	A	rs142081193	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:84229512G>A	ENST00000268624.3	+	8	1483	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V382M	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	382	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTGTGCTACGTGGCGCCCTC	0.716		NA											False	0	False	16:84229512	0
C1orf173	127254	broad.mit.edu	37	1	75036840	75036840	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:75036840G>A	ENST00000326665.5	-	14	4772	c.4554C>T	c.(4552-4554)agC>agT	p.S1518S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1518										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCAGTCTCGCTTTCTCCTT	0.493		NA											False	0	False	1:75036840	0
EXO1	9156	broad.mit.edu	37	1	242030320	242030320	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:242030320C>T	ENST00000366548.3	+	11	1823	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	EXO1_ENST00000518483.1_Silent_p.L410L|EXO1_ENST00000348581.5_Silent_p.L410L	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	410	Interaction with MLH1.		L -> R (abrogates exonuclease activity).		meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTTAAATCTCCCAAGGAAAT	0.408		NA						Editing and processing nucleases					False	0	True	1:242030320	0
PRR11	55771	broad.mit.edu	37	17	57270942	57270942	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270942C>G	ENST00000262293.4	+	5	804	c.492C>G	c.(490-492)atC>atG	p.I164M		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	164										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCGTTCTGATCACCCCTGGAG	0.537		NA											False	0	False	17:57270942	0
RLTPR	146206	broad.mit.edu	37	16	67682804	67682804	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:67682804G>A	ENST00000334583.6	+	17	1846	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	RLTPR_ENST00000545661.1_Silent_p.S470S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	506										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCTGCGCTCGGCCGGCGCCC	0.682		NA											False	0	True	16:67682804	0
PRODH2	58510	broad.mit.edu	37	19	36302895	36302895	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302895T>A	ENST00000301175.3	-	5	811	c.794A>T	c.(793-795)gAg>gTg	p.E265V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	265					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCAGCCTCTCGGGGCTCAG	0.637		NA											False	0	False	19:36302895	0
DISC1	27185	broad.mit.edu	37	1	231830151	231830151	+	Missense_Mutation	SNP	C	C	T	rs139420445	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:231830151C>T	ENST00000439617.2	+	2	700	c.647C>T	c.(646-648)tCg>tTg	p.S216L	DISC1_ENST00000317586.4_Missense_Mutation_p.S216L|DISC1_ENST00000366633.3_Missense_Mutation_p.S216L|DISC1_ENST00000366636.4_Missense_Mutation_p.S216L|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S216L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.S216L|DISC1_ENST00000539444.1_Missense_Mutation_p.S216L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.S216L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	216	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATTCGGCTCTCGCTTGGCTCT	0.607		NA											False	0	False	1:231830151	0
CKMT2	1160	broad.mit.edu	37	5	80550266	80550266	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:80550266G>A	ENST00000424301.2	+	5	641	c.403G>A	c.(403-405)Gac>Aac	p.D135N	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D135N|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D135N	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	135					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CAACGGCTATGACCCCAGGGT	0.532		NA											False	0	False	5:80550266	0
RSU1	6251	broad.mit.edu	37	10	16794556	16794556	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:16794556C>T	ENST00000377921.3	-	6	881	c.580G>A	c.(580-582)Gtt>Att	p.V194I	RSU1_ENST00000345264.5_Missense_Mutation_p.V194I|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_Missense_Mutation_p.V141I			Q15404	RSU1_HUMAN	Ras suppressor protein 1	194					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GGGGGCAGAACGGTGAGGCGG	0.468		NA											False	0	False	10:16794556	0
PRAMEF4	400735	broad.mit.edu	37	1	12943068	12943068	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:12943068G>A	ENST00000235349.5	-	2	218	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	50								p.R50C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCACAGCGTCTCCTGCTG	0.607		NA											False	0	False	1:12943068	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
APBA2	321	broad.mit.edu	37	15	29346316	29346316	+	Missense_Mutation	SNP	G	G	A	rs140795962		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:29346316G>A	ENST00000558402.1	+	5	828	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	APBA2_ENST00000558259.1_Missense_Mutation_p.V77M|APBA2_ENST00000561069.1_Missense_Mutation_p.V77M|APBA2_ENST00000558330.1_Missense_Mutation_p.V77M|APBA2_ENST00000411764.1_Missense_Mutation_p.V77M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	77					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCTGACTACGTGAACAACAC	0.637		NA											False	0	False	15:29346316	0
PRODH2	58510	broad.mit.edu	37	19	36303115	36303115	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36303115C>A	ENST00000301175.3	-	4	676	c.659G>T	c.(658-660)gGc>gTc	p.G220V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	220					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGAGGCCCCGTGACAG	0.652		NA											False	0	True	19:36303115	0
KDM5B	10765	broad.mit.edu	37	1	202714993	202714993	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:202714993C>T	ENST00000367265.3	-	16	3480	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K	KDM5B_ENST00000367264.2_Silent_p.K808K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	772					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TACTTTTCTTCTTGTTGATCT	0.383		NA											False	0	False	1:202714993	0
CCDC116	164592	broad.mit.edu	37	22	21991276	21991276	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:21991276G>T	ENST00000292779.3	+	5	1920	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TGAGGGCCGTGATAAAGCCGA	0.557		NA											False	0	False	22:21991276	0
CHAT	1103	broad.mit.edu	37	10	50833616	50833616	+	Missense_Mutation	SNP	G	G	A	rs146236256		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:50833616G>A	ENST00000395562.2	+	7	1073	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S|CHAT_ENST00000337653.2_Missense_Mutation_p.G284S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	284					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCGGCTCCCCGGCCATACCCA	0.592		NA											False	0	True	10:50833616	0
PRODH2	58510	broad.mit.edu	37	19	36302896	36302896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302896C>A	ENST00000301175.3	-	5	810	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	265					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCAGCCTCTCGGGGCTCAGC	0.637		NA											False	0	True	19:36302896	0
PRR11	55771	broad.mit.edu	37	17	57270937	57270937	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270937C>T	ENST00000262293.4	+	5	799	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	163										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCCTGCGTTCTGATCACCCC	0.532		NA											False	0	False	17:57270937	0
SEPSECS	51091	broad.mit.edu	37	4	25158572	25158572	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:25158572G>A	ENST00000382103.2	-	3	366	c.294C>T	c.(292-294)tcC>tcT	p.S98S	SEPSECS_ENST00000302922.3_Silent_p.S19S	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	98				S -> P (in Ref. 8; AAG00491).	selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AAATATCACCGGATCGTCCAA	0.398		NA											False	0	False	4:25158572	0
PRL	5617	broad.mit.edu	37	6	22294688	22294688	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:22294688C>T	ENST00000306482.1	-	2	672	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	52					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGGACAGGACGACGGCGCGG	0.582		NA											False	0	False	6:22294688	0
PCDHA3	0	broad.mit.edu	37	5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1				NA										NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617		NA											False	0	True	5:140180975	0
SKP2	6502	broad.mit.edu	37	5	36170522	36170522	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:36170522A>G	ENST00000274255.6	+	6	944	c.748A>G	c.(748-750)Act>Gct	p.T250A	SKP2_ENST00000274254.5_Missense_Mutation_p.T250A|SKP2_ENST00000546211.1_Missense_Mutation_p.T36A|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCCTGCAGACTTTGCTAAG	0.383		NA											False	0	False	5:36170522	0
GABRG2	0	broad.mit.edu	37	5	161576159	161576159	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:161576159G>A	ENST00000356592.3	+	8	1428	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	GABRG2_ENST00000393933.4_Missense_Mutation_p.R228Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R363Q|GABRG2_ENST00000361925.4_Missense_Mutation_p.R323Q	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	323					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACCATTGCCCGGAAATCGCTC	0.473		NA											False	0	True	5:161576159	0
OR1D2	4991	broad.mit.edu	37	17	2996105	2996105	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:2996105G>A	ENST00000331459.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	62					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTTGGCCAGGAAGAAGTACA	0.537		NA											False	0	False	17:2996105	0
SLC16A10	117247	broad.mit.edu	37	6	111498424	111498424	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:111498424G>C	ENST00000368851.5	+	3	673	c.498G>C	c.(496-498)gaG>gaC	p.E166D	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	166					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GTTCCATCGAGCCTCTGTACC	0.398		NA											False	0	False	6:111498424	0
MYLK	4638	broad.mit.edu	37	3	123383037	123383037	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:123383037C>T	ENST00000360772.3	-	24	4278	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_ENST00000475616.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000346322.5_Silent_p.A1231A			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCCTGGCGCGCGGCCAGGA	0.627		NA											False	0	True	3:123383037	0
MYO1G	64005	broad.mit.edu	37	7	45003667	45003667	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:45003667C>T	ENST00000258787.7	-	20	2862	c.2726G>A	c.(2725-2727)cGg>cAg	p.R909Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	909						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGCACGGCCCGCATCACCCG	0.637		NA											False	0	True	7:45003667	0
MSRB3	253827	broad.mit.edu	37	12	65857005	65857005	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:65857005C>T	ENST00000308259.5	+	7	735	c.461C>T	c.(460-462)tCg>tTg	p.S154L	MSRB3_ENST00000355192.3_Missense_Mutation_p.S161L|MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	161					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	p.S161L(1)|p.S154L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCATAAATTCGGCTGCCTTG	0.547		NA											False	0	False	12:65857005	0
NUDT2	318	broad.mit.edu	37	9	34343390	34343390	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:34343390G>T	ENST00000379158.2	+	5	754	c.396G>T	c.(394-396)aaG>aaT	p.K132N	NUDT2_ENST00000346365.4_Missense_Mutation_p.K132N|NUDT2_ENST00000379155.5_Missense_Mutation_p.K132N	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	132	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGGAGATGAAGGCAGCGCTCC	0.567		NA											False	0	False	9:34343390	0
GPR15	2838	broad.mit.edu	37	3	98251438	98251438	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:98251438G>C	ENST00000284311.3	+	1	696	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	187						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.K187N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAGAAAAAGGCAACTCCAA	0.473		NA											False	0	True	3:98251438	0
MTG2	26164	broad.mit.edu	37	20	60774235	60774235	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr20:60774235G>A	ENST00000370823.3	+	6	766	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	MTG2_ENST00000536470.1_Missense_Mutation_p.A22T|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2	NA											NA						CGCCAGACCCGCCGTGGCTTC	0.622		NA											False	0	True	20:60774235	0
CCDC61	729440	broad.mit.edu	37	19	46506729	46506729	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:46506729C>T	ENST00000263284.2	+	4	372	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CCDC61_ENST00000595358.1_Silent_p.F67F|CCDC61_ENST00000594087.1_Silent_p.F67F|CCDC61_ENST00000536603.1_Silent_p.F67F					coiled-coil domain containing 61	NA										endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TCAACATCTTCTGTCATATGC	0.567		NA											False	0	False	19:46506729	0
BAGE2	85319	broad.mit.edu	37	21	11058247	11058247	+	RNA	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr21:11058247G>A	ENST00000470054.1	-	0	400									B melanoma antigen family, member 2	NA											NA			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCAGCACAAGGATAATGATA	0.433		NA											False	0	False	21:11058247	0
