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
CGNL1	84952	broad.mit.edu	37	15	57823890	57823890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:57823890delC	ENST00000281282.5	+	14	3282	c.3204delC	c.(3202-3204)gacfs	p.D1068fs		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1068				D -> A (in Ref. 1; AAT37906).		myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTTCTTAGGACAAGGTGTCTC	0.448		NA											False	1	False	15:57823890	0
MYLPF	29895	broad.mit.edu	37	16	30389182	30389182	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:30389182delC	ENST00000322861.7	+	7	552	c.471delC	c.(469-471)tgcfs	p.C157fs		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	157	EF-hand 3.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			AAAACATCTGCTACGTCATCA	0.672		NA											False	1	False	16:30389182	0
SRGAP2	23380	broad.mit.edu	37	1	206574946	206574948	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	ACA	ACA	-	-	ACA	ACA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:206574946_206574948delACA	ENST00000414007.1	+	4	578_580	c.578_580delACA	c.(577-582)tacaac>tac	p.N195del	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	335					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ATGGAGATGTACAACAACGTCTT	0.532		NA											False	2	False	1:206574946	0
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_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
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	TGCTGCG	TGCTGCG	-	-	TGCTGCG	TGCTGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527		NA											False	1	False	1:248616705	0
ESPNP	0	broad.mit.edu	37	1	17029302	17029364	+	RNA	DEL	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-	-	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	ENST00000492551.1	-	0	1001_1063					NR_026567.1					NA											NA						TGGGTAGCTAggtgggggtgggggcagttgggtgcctgggggcgggggtggcggggggaagctgggtgggggtggtgggggta	0.627		NA											False	1	True	1:17029302	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	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
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	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
PARP10	84875	broad.mit.edu	37	8	145059772	145059798	+	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	rs146902781	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	-	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENST00000524918.1	-	4	541_567	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg	p.EQAQNLGLE152del	PARP10_ENST00000313028.7_In_Frame_Del_p.EQAQNLGLE152del|PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del|PARP10_ENST00000533665.1_5'UTR			Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	152						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGGTCCCCTCCAGGCCCAGATTCTGGGCCTGCTCCTCCAGGAC	0.648		NA											False	1	False	8:145059772	0
UBAC1	10422	broad.mit.edu	37	9	138836942	138836944	+	In_Frame_Del	DEL	CCT	CCT	-	rs66767056		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:138836942_138836944delCCT	ENST00000371756.3	-	7	1023_1025	c.806_808delAGG	c.(805-810)gaggcc>gcc	p.E269del	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084).		Golgi apparatus|plasma membrane	protein binding	p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCATCTCTGGCCTCCTCATCGGT	0.621		NA											False	2	False	9:138836942	0
RAB3IP	117177	broad.mit.edu	37	12	70209146	70209146	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:70209146G>A	ENST00000550536.1	+	11	1808	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	RAB3IP_ENST00000550847.1_Missense_Mutation_p.D142N|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000483530.2_3'UTR|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D435N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D229N|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D229N|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D229N	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	451					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTATAGTTGATCAGATGTT	0.363		NA											False	0	False	12:70209146	0
OR4D5	219875	broad.mit.edu	37	11	123810383	123810383	+	Silent	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:123810383T>C	ENST00000307033.2	+	1	134	c.60T>C	c.(58-60)gtT>gtC	p.V20V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTCTCAGGTTTGGGAGCTTC	0.443		NA											False	0	True	11:123810383	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578263	0
IFNA7	3444	broad.mit.edu	37	9	21201945	21201945	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:21201945T>C	ENST00000239347.3	-	1	259	c.220A>G	c.(220-222)Act>Gct	p.T74A		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATGGCTTGAGTCTTCTGGAAC	0.493		NA											False	0	False	9:21201945	0
AMOT	154796	broad.mit.edu	37	X	112048283	112048283	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:112048283C>T	ENST00000371959.3	-	5	1667	c.1668G>A	c.(1666-1668)gcG>gcA	p.A556A	AMOT_ENST00000524145.1_Silent_p.A556A|AMOT_ENST00000371962.1_Silent_p.A324A|AMOT_ENST00000304758.1_Silent_p.A147A|AMOT_ENST00000371958.1_Silent_p.A324A	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	556					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGGCCAGCTCCGCTTCCAGCT	0.527		NA											False	0	False	X:112048283	0
ATRIP	84126	broad.mit.edu	37	3	48491541	48491541	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:48491541G>A	ENST00000412052.1	+	2	529	c.67G>A	c.(67-69)Gta>Ata	p.V23I	ATRIP_ENST00000346691.4_Missense_Mutation_p.V116I|ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000320211.3_Missense_Mutation_p.V116I	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	116					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAATTAGAGGTACTTCAGGC	0.333		NA						Other conserved DNA damage response genes					False	0	False	3:48491541	0
ADAMTS7	11173	broad.mit.edu	37	15	79067130	79067130	+	Missense_Mutation	SNP	T	T	C	rs138755716		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:79067130T>C	ENST00000388820.4	-	12	1922	c.1712A>G	c.(1711-1713)aAa>aGa	p.K571R	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	571	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCTTTGTATTTGGGCCTGTG	0.647		NA											False	0	True	15:79067130	0
ACE2	59272	broad.mit.edu	37	X	15582310	15582310	+	Missense_Mutation	SNP	G	G	A	rs144869363	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:15582310G>A	ENST00000427411.1	-	18	2362	c.2146C>T	c.(2146-2148)Cgt>Tgt	p.R716C	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Missense_Mutation_p.R716C	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	716					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCATTCAGACGGAAAGCATCA	0.428		NA											False	0	False	X:15582310	0
ARID2	196528	broad.mit.edu	37	12	46231283	46231283	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:46231283A>G	ENST00000334344.6	+	10	1295	c.1123A>G	c.(1123-1125)Atg>Gtg	p.M375V	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.M226V|ARID2_ENST00000444670.1_Missense_Mutation_p.M4V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	375					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTTCAGGCATGGAAATTTT	0.308		NA	"""N, S, F"""		hepatocellular carcinoma								False	0	False	12:46231283	0
ABCA12	26154	broad.mit.edu	37	2	215835096	215835096	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:215835096G>A	ENST00000272895.7	-	37	5810	c.5591C>T	c.(5590-5592)cCg>cTg	p.P1864L	ABCA12_ENST00000389661.4_Missense_Mutation_p.P1546L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1864					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTCTGTGCGGTGGGGAATA	0.358		NA											False	0	False	2:215835096	0
GTF3A	2971	broad.mit.edu	37	13	28001293	28001293	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:28001293G>T	ENST00000381140.4	+	2	460	c.266G>T	c.(265-267)cGc>cTc	p.R89L	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	89					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		CATCTGAGCCGCCACATTCTG	0.453		NA											False	0	False	13:28001293	0
MAEA	10296	broad.mit.edu	37	4	1283769	1283769	+	Splice_Site	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:1283769A>G	ENST00000303400.4	+	1	131	c.68A>G	c.(67-69)aAg>aGg	p.K23R	MAEA_ENST00000514708.1_Splice_Site_p.K23R|MAEA_ENST00000264750.6_Splice_Site_p.K23R|MAEA_ENST00000452175.2_Splice_Site_p.K12R|MAEA_ENST00000505177.2_Splice_Site_p.K23R	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	23	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CCGACCCTCAAGGTGGGCGCC	0.716		NA											False	0	False	4:1283769	0
PLA1A	51365	broad.mit.edu	37	3	119327676	119327676	+	Missense_Mutation	SNP	C	C	T	rs145457987	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:119327676C>T	ENST00000273371.4	+	3	407	c.335C>T	c.(334-336)aCg>aTg	p.T112M	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Missense_Mutation_p.T96M|PLA1A_ENST00000495992.1_Missense_Mutation_p.T112M	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	112					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCGTGCAACGAATGCTAAT	0.438		NA											False	0	False	3:119327676	0
TRIM58	25893	broad.mit.edu	37	1	248039221	248039221	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:248039221C>T	ENST00000366481.3	+	6	939	c.891C>T	c.(889-891)ccC>ccT	p.P297P	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	297	B30.2/SPRY.					intracellular	zinc ion binding	p.P297P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTGGATCCCGCCACGGCGC	0.537		NA											False	0	True	1:248039221	0
SH2D3C	10044	broad.mit.edu	37	9	130507114	130507114	+	Missense_Mutation	SNP	G	G	A	rs142472912	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:130507114G>A	ENST00000314830.8	-	7	1642	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	SH2D3C_ENST00000373277.4_Missense_Mutation_p.A353V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A442V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A352V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A350V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A156V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	510					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTCTCAGTCGCTGCCCACTC	0.627		NA											False	0	False	9:130507114	0
C1orf173	127254	broad.mit.edu	37	1	75037471	75037471	+	Missense_Mutation	SNP	G	G	A	rs138615520		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:75037471G>A	ENST00000326665.5	-	14	4141	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1308	Glu-rich.							p.A1308V(1)		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						GTCCTGCATCGCTTCTGTCTC	0.542		NA											False	0	False	1:75037471	0
CROCCP2	0	broad.mit.edu	37	1	16946471	16946471	+	RNA	SNP	G	G	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:16946471G>C	ENST00000412962.1	-	0	1048										NA											NA						CGCTGCAGCTGACTCTGCAGC	0.677		NA											False	0	False	1:16946471	0
SI	6476	broad.mit.edu	37	3	164764706	164764706	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:164764706C>A	ENST00000264382.3	-	16	1872	c.1810G>T	c.(1810-1812)Gac>Tac	p.D604Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	604	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCAGTATTGTCTCCTAACCAA	0.393		NA								HNSCC(35;0.089)			False	0	False	3:164764706	0
CCT6P1	0	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167										NA											NA						AGGTTCTTGCGCAGAATTCTG	0.383		NA											False	0	False	7:65226641	0
LRBA	987	broad.mit.edu	37	4	151791686	151791686	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:151791686G>C	ENST00000535741.1	-	20	2913	c.2440C>G	c.(2440-2442)Caa>Gaa	p.Q814E	LRBA_ENST00000357115.3_Missense_Mutation_p.Q814E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q814E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q814E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	814						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CGAGGGTTTTGTATCTTCACT	0.313		NA											False	0	True	4:151791686	0
AGPAT3	56894	broad.mit.edu	37	21	45389013	45389013	+	Silent	SNP	C	C	A	rs146737372	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:45389013C>A	ENST00000398063.2	+	4	855	c.363C>A	c.(361-363)ctC>ctA	p.L121L	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Silent_p.L121L|AGPAT3_ENST00000398058.1_Silent_p.L121L|AGPAT3_ENST00000327505.2_Silent_p.L121L|AGPAT3_ENST00000291572.8_Silent_p.L121L|AGPAT3_ENST00000398061.1_Silent_p.L121L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	121					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CCAAGGTCCTCGCTAAGAAGG	0.637		NA											False	0	False	21:45389013	0
KCNT2	343450	broad.mit.edu	37	1	196227479	196227479	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:196227479C>T	ENST00000367433.5	-	25	3085	c.2984G>A	c.(2983-2985)cGa>cAa	p.R995Q	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.R1019Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.R953Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R952Q	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R1019Q(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCAGTCTTCGGGCCCACTG	0.512		NA											False	0	True	1:196227479	0
TBC1D12	23232	broad.mit.edu	37	10	96269882	96269882	+	Silent	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:96269882A>G	ENST00000225235.4	+	8	1745	c.1635A>G	c.(1633-1635)gaA>gaG	p.E545E	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	545	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCAGTCTGGAATTAATTAAGT	0.353		NA											False	0	True	10:96269882	0
NLRP4	147945	broad.mit.edu	37	19	56369355	56369355	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:56369355C>T	ENST00000301295.6	+	3	1018	c.596C>T	c.(595-597)aCg>aTg	p.T199M	NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M|NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	199	NACHT.						ATP binding	p.T199M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGCCGCCAACGAGTTTGGCT	0.517		NA											False	0	False	19:56369355	0
DYSF	8291	broad.mit.edu	37	2	71795377	71795377	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:71795377G>A	ENST00000258104.3	+	26	2996	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	DYSF_ENST00000429174.2_Missense_Mutation_p.V907I|DYSF_ENST00000409651.1_Missense_Mutation_p.V939I|DYSF_ENST00000409366.1_Missense_Mutation_p.V908I|DYSF_ENST00000409744.1_Missense_Mutation_p.V894I|DYSF_ENST00000394120.2_Missense_Mutation_p.V908I|DYSF_ENST00000409582.3_Missense_Mutation_p.V924I|DYSF_ENST00000409762.1_Missense_Mutation_p.V924I|DYSF_ENST00000410020.3_Missense_Mutation_p.V925I|DYSF_ENST00000410041.1_Missense_Mutation_p.V925I|DYSF_ENST00000413539.2_Missense_Mutation_p.V938I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	907						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						GTTTTCTGACGTCACGGGCAA	0.592		NA											False	0	False	2:71795377	0
RLTPR	146206	broad.mit.edu	37	16	67682073	67682073	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67682073C>T	ENST00000334583.6	+	14	1518	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V	RLTPR_ENST00000545661.1_Intron	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	397										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)		ACCGGCAGGGCGGACTGGAGG	0.692		NA											False	0	True	16:67682073	0
NLGN3	54413	broad.mit.edu	37	X	70389792	70389792	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:70389792C>T	ENST00000374051.3	+	7	2654	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	NLGN3_ENST00000536169.1_Missense_Mutation_p.R758C|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.R798C	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	798					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.R778C(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GACCCTGCGGCGCTCCCCGGA	0.612		NA											False	0	False	X:70389792	0
VRK3	51231	broad.mit.edu	37	19	50504080	50504080	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:50504080T>C	ENST00000443401.2	-	5	516	c.38A>G	c.(37-39)cAg>cGg	p.Q13R	VRK3_ENST00000599538.1_Silent_p.S193S|VRK3_ENST00000601341.1_Silent_p.S143S|VRK3_ENST00000316763.3_Silent_p.S193S|VRK3_ENST00000601912.1_Silent_p.S143S|VRK3_ENST00000594948.1_Silent_p.S193S|VRK3_ENST00000593919.1_Silent_p.S193S|VRK3_ENST00000377011.2_Silent_p.S143S|VRK3_ENST00000594092.1_Silent_p.S193S|VRK3_ENST00000424804.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	0						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCTGTGGTCCTGAGTCACAGG	0.542		NA											False	0	False	19:50504080	0
LPA	4018	broad.mit.edu	37	6	161032642	161032642	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:161032642G>C	ENST00000447678.1	-	17	2675	c.2555C>G	c.(2554-2556)tCt>tGt	p.S852C	LPA_ENST00000316300.5_Missense_Mutation_p.S852C	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3360	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTGTCATAGATGACCAAGC	0.493		NA											False	0	False	6:161032642	0
MROH7-TTC4	0	broad.mit.edu	37	1	55138848	55138848	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:55138848A>T	ENST00000414150.2	+	8	1962	c.1684A>T	c.(1684-1686)Agc>Tgc	p.S562C	MROH7_ENST00000395690.2_Missense_Mutation_p.S562C|MROH7_ENST00000545244.1_Missense_Mutation_p.S130C|MROH7_ENST00000421030.2_Missense_Mutation_p.S562C|MROH7_ENST00000454855.2_Missense_Mutation_p.S80C|MROH7_ENST00000339553.5_Missense_Mutation_p.S562C|MROH7_ENST00000409996.1_Missense_Mutation_p.S130C						NA											NA						TGGGCTGAAGAGCATCTTgga	0.597		NA											False	0	False	1:55138848	0
NCOR1	9611	broad.mit.edu	37	17	16089977	16089977	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:16089977A>G	ENST00000268712.3	-	3	390	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	NCOR1_ENST00000395851.1_Missense_Mutation_p.S45P|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	45	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATGAGAGGAACGATAATCA	0.403		NA											False	0	False	17:16089977	0
CCT6P3	0	broad.mit.edu	37	7	64530103	64530103	+	RNA	SNP	G	G	A	rs137873032	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:64530103G>A	ENST00000426828.1	+	0	923					NR_033416.1					NA											NA						TGACTGCTTGGGACATGCAGG	0.388		NA											False	0	True	7:64530103	0
EFCAB6	64800	broad.mit.edu	37	22	44083353	44083353	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:44083353A>T	ENST00000262726.7	-	11	1393	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.N228K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.N380K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACATACCTATTTCTTTTTG	0.299		NA											False	0	True	22:44083353	0
SPRYD3	84926	broad.mit.edu	37	12	53459657	53459657	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:53459657C>T	ENST00000301463.4	-	11	1374	c.1288G>A	c.(1288-1290)Ggg>Agg	p.G430R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.G467R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	430								p.G430W(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ACTTTCTCCCCGCAGCTCAGC	0.567		NA									OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:53459657	0
TRGV5	0	broad.mit.edu	37	7	38388960	38388960	+	RNA	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:38388960T>C	ENST00000390344.2	-	0	547										NA											NA						ACTGTGCCTGTCCCAGGTGGC	0.478		NA											False	0	True	7:38388960	0
KLK1	3816	broad.mit.edu	37	19	51322554	51322554	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322554A>T	ENST00000448701.2	-	6	1703	c.379T>A	c.(379-381)Tca>Aca	p.S127T	KLK1_ENST00000301420.2_Missense_Mutation_p.S229T			P06870	KLK1_HUMAN	kallikrein 1	229	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGCCCCATGATGTGACACCT	0.582		NA											False	0	False	19:51322554	0
PCDH9	5101	broad.mit.edu	37	13	67802227	67802227	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802227C>A	ENST00000544246.1	-	2	1037	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	PCDH9_ENST00000377865.2_Missense_Mutation_p.V116L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V116L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V116L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V116L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	116	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGGAGGATCACCACCTCAAGT	0.408		NA											False	0	False	13:67802227	0
TNRC18	84629	broad.mit.edu	37	7	5410273	5410273	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:5410273C>T	ENST00000399537.4	-	11	4300	c.3952G>A	c.(3952-3954)Ggc>Agc	p.G1318S	TNRC18_ENST00000430969.1_Missense_Mutation_p.G1318S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1318							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGTGCTGCCGAGTACAGGC	0.662		NA											False	0	False	7:5410273	0
MGRN1	0	broad.mit.edu	37	16	4702743	4702743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:4702743G>T	ENST00000399577.5	+	4	454	c.361G>T	c.(361-363)Gag>Tag	p.E121*	MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E121*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E121*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	121					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTACAGCCTGGAGTTCACCTT	0.662		NA											False	0	False	16:4702743	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986063	31986063	+	Missense_Mutation	SNP	C	C	T	rs28567421	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:31986063C>T	ENST00000329122.2	-	1	186	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	54						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						ACAGAGGGAGCGGGAGCCATA	0.587		NA											False	0	True	21:31986063	0
PSKH1	5681	broad.mit.edu	37	16	67961230	67961230	+	Silent	SNP	C	C	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67961230C>G	ENST00000291041.5	+	3	1130	c.960C>G	c.(958-960)ccC>ccG	p.P320P		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	320	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GTCTCTAGCCCTGGCCTAGTG	0.587		NA											False	0	True	16:67961230	0
HNRNPDL	9987	broad.mit.edu	37	4	83349551	83349551	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:83349551C>T	ENST00000295470.5	-	2	667	c.492G>A	c.(490-492)ctG>ctA	p.L164L	HNRNPDL_ENST00000502762.1_Silent_p.L164L|HNRNPDL_ENST00000349655.4_Silent_p.L45L|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000602300.1_Silent_p.L45L	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like	NA											NA						AGTACTCTGTCAGATCTTTTT	0.343		NA											False	0	False	4:83349551	0
DNAI2	64446	broad.mit.edu	37	17	72308199	72308199	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:72308199C>T	ENST00000579490.1	+	11	1858	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	DNAI2_ENST00000446837.2_Missense_Mutation_p.R518W|DNAI2_ENST00000311014.6_Missense_Mutation_p.R518W|DNAI2_ENST00000582036.1_Missense_Mutation_p.R506W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R375W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	518					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCGGGAGATGCGGCTGAAGGA	0.657		NA							Kartagener syndrome				False	0	False	17:72308199	0
CDC14A	8556	broad.mit.edu	37	1	100843110	100843110	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:100843110C>A	ENST00000370125.2	+	3	637	c.149C>A	c.(148-150)gCa>gAa	p.A50E	CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.A50E|CDC14A_ENST00000336454.3_Missense_Mutation_p.A50E|CDC14A_ENST00000361544.6_Missense_Mutation_p.A50E|CDC14A_ENST00000370124.3_Missense_Mutation_p.A50E			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	50	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGTTTCTATGCAGATTTTGGA	0.279		NA											False	0	False	1:100843110	0
CAPNS1	826	broad.mit.edu	37	19	36633201	36633201	+	Splice_Site	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:36633201G>A	ENST00000246533.3	+	3	807		c.e3-1		CAPNS1_ENST00000590874.1_Splice_Site|CAPNS1_ENST00000587718.1_Splice_Site|CAPNS1_ENST00000588815.1_Splice_Site|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Splice_Site	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	NA					positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCTTCGCAGCGAGGCGGCT	0.652		NA											False	0	False	19:36633201	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C	NA								p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383		NA											False	0	False	2:96521777	0
ELTD1	64123	broad.mit.edu	37	1	79392719	79392719	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:79392719G>T	ENST00000370742.3	-	8	998	c.935C>A	c.(934-936)tCt>tAt	p.S312Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	312					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAGTTGTCAGATGATGAAAG	0.318		NA											False	0	False	1:79392719	0
GDF6	392255	broad.mit.edu	37	8	97156945	97156945	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:97156945G>A	ENST00000287020.5	-	2	1313	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	405					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTTCATCAGCGTCTGGATGAT	0.602		NA											False	0	False	8:97156945	0
FLNC	2318	broad.mit.edu	37	7	128477594	128477594	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:128477594A>G	ENST00000325888.8	+	4	1103	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	FLNC_ENST00000346177.6_Missense_Mutation_p.Y281C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	281					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCATCGCCTATGGGCCTGGT	0.602		NA											False	0	False	7:128477594	0
NEFH	4744	broad.mit.edu	37	22	29886317	29886317	+	Silent	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:29886317G>A	ENST00000310624.6	+	4	2721	c.2688G>A	c.(2686-2688)gaG>gaA	p.E896E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	902	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGGAAGAGGCTGAAGATA	0.512		NA											False	0	False	22:29886317	0
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	rs17851045		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:25380275T>A	ENST00000311936.3	-	3	374	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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	12:25380275	0
KCNA6	3742	broad.mit.edu	37	12	4920010	4920010	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:4920010C>T	ENST00000433855.1	+	1	1669	c.803C>T	c.(802-804)aCg>aTg	p.T268M	KCNA6_ENST00000280684.3_Missense_Mutation_p.T268M	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTGGTGGAGACGCTGTGCATT	0.562		NA								HNSCC(72;0.22)			False	0	False	12:4920010	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468		NA											False	0	False	7:72398976	0
LINC00969	0	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508										NA											NA						TGTCACGAATCTTGACAAATT	0.418		NA											False	0	False	3:195404651	0
FCGBP	8857	broad.mit.edu	37	19	40368392	40368392	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:40368392T>C	ENST00000221347.6	-	28	12963	c.12956A>G	c.(12955-12957)gAc>gGc	p.D4319G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4319						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAAAGAATGTCACGGTCCCC	0.622		NA											False	0	False	19:40368392	0
KLK1	3816	broad.mit.edu	37	19	51322555	51322555	+	Silent	SNP	T	T	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322555T>G	ENST00000448701.2	-	6	1702	c.378A>C	c.(376-378)acA>acC	p.T126T	KLK1_ENST00000301420.2_Silent_p.T228T			P06870	KLK1_HUMAN	kallikrein 1	228	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCCCATGATGTGACACCTT	0.577		NA											False	0	False	19:51322555	0
PCDH9	5101	broad.mit.edu	37	13	67802228	67802228	+	Silent	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802228C>A	ENST00000544246.1	-	2	1036	c.345G>T	c.(343-345)gtG>gtT	p.V115V	PCDH9_ENST00000377865.2_Silent_p.V115V|PCDH9_ENST00000377861.3_Silent_p.V115V|PCDH9_ENST00000456367.1_Silent_p.V115V|PCDH9_ENST00000328454.5_Silent_p.V115V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	115	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGGATCACCACCTCAAGTT	0.413		NA											False	0	False	13:67802228	0
GOLPH3	64083	broad.mit.edu	37	5	32126388	32126388	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:32126388G>A	ENST00000265070.6	-	4	1142	c.827C>T	c.(826-828)cCt>cTt	p.P276L		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	276					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TTCCACTTCAGGGTCTAAGTC	0.542		NA											False	0	True	5:32126388	0
DOPEY2	9980	broad.mit.edu	37	21	37609603	37609603	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:37609603G>C	ENST00000399151.3	+	16	2751	c.2666G>C	c.(2665-2667)cGg>cCg	p.R889P		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	889					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGAGACCCGGGAGCATCAC	0.592		NA											False	0	True	21:37609603	0
TTN	7273	broad.mit.edu	37	2	179579858	179579858	+	Silent	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:179579858G>A	ENST00000589042.1	-	90	26279	c.26055C>T	c.(26053-26055)agC>agT	p.S8685S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S8368S|TTN_ENST00000342992.6_Silent_p.S7441S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8368	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCTTGCCGCTCCTAAGTT	0.443		NA											False	0	False	2:179579858	0
KDM6B	23135	broad.mit.edu	37	17	7752472	7752472	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7752472G>A	ENST00000254846.5	+	11	3255	c.2866G>A	c.(2866-2868)Gca>Aca	p.A956T	KDM6B_ENST00000448097.2_Missense_Mutation_p.A956T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	956					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCTGCCCCCCGCACAGGCCAA	0.692		NA											False	0	True	17:7752472	0
XDH	7498	broad.mit.edu	37	2	31625970	31625970	+	Silent	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:31625970G>T	ENST00000379416.3	-	3	189	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	47	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAGCCCCGCAGCCCCCCTCTC	0.577		NA											False	0	True	2:31625970	0
ROBO1	6091	broad.mit.edu	37	3	78734918	78734918	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:78734918C>A	ENST00000436010.2	-	8	2200	c.1203G>T	c.(1201-1203)aaG>aaT	p.K401N	ROBO1_ENST00000495273.1_Missense_Mutation_p.K404N|ROBO1_ENST00000464233.1_Missense_Mutation_p.K440N|ROBO1_ENST00000467549.1_Missense_Mutation_p.K404N			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	440	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCAAATATGCCTTTGTGATGA	0.383		NA											False	0	True	3:78734918	0
C14orf39	317761	broad.mit.edu	37	14	60945081	60945081	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:60945081C>T	ENST00000321731.3	-	5	419	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	87										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTCATGTTTACGAAAAACATC	0.264		NA											False	0	False	14:60945081	0
