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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RFWD3	55159	broad.mit.edu	37	16	74671790	74671790	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:74671790G>A	ENST00000361070.4	-	7	1255	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	RFWD3_ENST00000571750.1_Silent_p.L386L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	386					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						ACTTATCAGTGAGGACCTGCA	0.468000													7	22					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4614499	4614499	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr12:4614499C>G	ENST00000261250.3	-	10	1297	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.E404Q|C12orf4_ENST00000509318.2_5'UTR	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	404										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TAGTTCCTCTCAGCATTCTTA	0.279000													13	45					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10357026	10357026	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:10357026G>C	ENST00000377086.1	+	21	2135	c.1933G>C	c.(1933-1935)Gag>Cag	p.E645Q	KIF1B_ENST00000377083.1_Missense_Mutation_p.E599Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.E599Q|KIF1B_ENST00000377093.4_Missense_Mutation_p.E599Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.E645Q			O60333	KIF1B_HUMAN	kinesin family member 1B	645					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGCTGAGCGAGAGAAGACTCC	0.463000													15	63					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46423348	46423348	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:46423348T>A	ENST00000336915.6	-	4	268	c.199A>T	c.(199-201)Agc>Tgc	p.S67C	SKAP1_ENST00000584924.1_Missense_Mutation_p.S67C	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	67					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCATCAGAGCTGTCCTGTCCA	0.438000													5	25					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943066	11943066	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:11943066G>A	ENST00000304060.5	+	4	1239	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCAAAGACATGAAAAAATTCA	0.378000													20	55					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295192	19295192	+	Silent	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:19295192C>A	ENST00000328405.2	+	2	389	c.123C>A	c.(121-123)ccC>ccA	p.P41P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	41	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGGGTTTCCCCATAGTCTACT	0.438000													20	175					2.27731e-05	2.35816e-05	1	1	0
KIAA1328	57536	broad.mit.edu	37	18	34740233	34740233	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr18:34740233C>G	ENST00000591619.1	+	8	2077	c.1291C>G	c.(1291-1293)Cca>Gca	p.P431A	KIAA1328_ENST00000280020.5_Missense_Mutation_p.P435A|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P187A|KIAA1328_ENST00000543923.1_Missense_Mutation_p.P327A|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P187A			Q86T90	K1328_HUMAN	KIAA1328	435										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CCAAGACCCCCCAAACAGTGG	0.413000													6	23					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48062868	48062868	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:48062868C>T	ENST00000316364.5	+	19	2547	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	SEMA6D_ENST00000537942.1_Missense_Mutation_p.S641F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S641F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S647F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S660F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S628F|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S641F|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S703F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S684F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	703					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GATGCAGAGTCCGCCCAGTCA	0.443000													29	76					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362286	101362286	+	Splice_Site	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:101362286C>G	ENST00000344327.3	-	3	1553		c.e3+1		TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Splice_Site|TRPC6_ENST00000360497.4_Splice_Site	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6						axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGACCTTACTTTTTTTACT	0.398000													4	170					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16725734	16725734	+	RNA	SNP	C	C	T	rs62074114	by1000genomes	TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:16725734C>T	ENST00000417510.1	-	0	159																											GAgccgcccccgatgccgccc	0.692000													5	9					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67384149	67384149	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:67384149C>G	ENST00000329956.6	+	5	552	c.533C>G	c.(532-534)tCt>tGt	p.S178C	LRRC36_ENST00000435835.3_Missense_Mutation_p.S57C|LRRC36_ENST00000563189.1_Missense_Mutation_p.S57C|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000541146.1_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	178										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGTGAGAGCTCTGCATCAAAA	0.358000													9	111					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768830	51768830	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:51768830C>T	ENST00000371117.3	-	42	7094	c.6819G>A	c.(6817-6819)acG>acA	p.T2273T	PKHD1_ENST00000340994.4_Silent_p.T2273T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2273					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCTCATCTCCGTGCATGTCC	0.353000													10	60					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154292599	154292599	+	Splice_Site	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:154292599C>G	ENST00000285873.7	-	14	1931		c.e14-1			NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5						ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGCTGCTCTCTAAAAGGCAA	0.463000													21	40					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63473186	63473186	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr14:63473186T>A	ENST00000322893.7	-	3	470	c.202A>T	c.(202-204)Atg>Ttg	p.M68L	KCNH5_ENST00000420622.2_Missense_Mutation_p.M68L|KCNH5_ENST00000394964.2_Missense_Mutation_p.M10L|KCNH5_ENST00000394968.1_Missense_Mutation_p.M10L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	68	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCCCATACATAAAACTGGGG	0.348000													12	42					0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56973211	56973211	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:56973211A>G	ENST00000439977.2	+	5	691	c.494A>G	c.(493-495)tAt>tGt	p.Y165C	HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000379792.2_Missense_Mutation_p.Y140C|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.Y164C	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	165						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TACACACCCTATGGGTGGCTT	0.527000			T	ERG	prostate								40	215					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792993	35792993	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:35792993C>T	ENST00000342694.2	+	1	843	c.588C>T	c.(586-588)ctC>ctT	p.L196L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	196					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCAGCAACCTCAGTGTGCAGC	0.647000													11	38					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242076584	242076584	+	Silent	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:242076584C>A	ENST00000403638.3	-	7	1063	c.972G>T	c.(970-972)gcG>gcT	p.A324A	PASK_ENST00000544142.1_Silent_p.A138A|PASK_ENST00000358649.4_Silent_p.A324A|PASK_ENST00000405260.1_Silent_p.A324A|PASK_ENST00000234040.4_Silent_p.A324A|PASK_ENST00000539818.1_Silent_p.A108A	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	324					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACCGGTGGTCGCCTCCTCGC	0.597000													15	34					4.14922e-12	4.55243e-12	1	1	0
JAK1	3716	broad.mit.edu	37	1	65313228	65313228	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:65313228C>T	ENST00000342505.4	-	13	2134	c.1886G>A	c.(1885-1887)aGg>aAg	p.R629K	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	629	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGAAATATCCCTGTGGCTGGG	0.498000			Mis		ALL								19	104					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473740	31473740	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:31473740C>T	ENST00000457010.2	+	3	1573	c.872C>T	c.(871-873)tCc>tTc	p.S291F	ARMC5_ENST00000538189.1_Missense_Mutation_p.S323F|ARMC5_ENST00000268314.4_Missense_Mutation_p.S291F|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Missense_Mutation_p.S386F|ARMC5_ENST00000563544.1_Missense_Mutation_p.S291F	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	291							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCCTGGCTTCCCACCCCAAG	0.662000													4	34					0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24512956	24512956	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chrX:24512956G>A	ENST00000441463.2	+	2	204	c.204G>A	c.(202-204)ccG>ccA	p.P68P	PDK3_ENST00000379162.4_Silent_p.P68P|PDK3_ENST00000493226.1_3'UTR	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	68					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ATCTTCTGCCGGATAATTTAC	0.413000													3	35					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69362482	69362482	+	Missense_Mutation	SNP	C	C	A	rs141580903	by1000genomes	TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:69362482C>A	ENST00000305363.4	+	10	1296	c.1232C>A	c.(1231-1233)aCg>aAg	p.T411K		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	411	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACTAGAGTTACGGCCTTGCGG	0.428000													37	232					5.71845e-15	6.29389e-15	1	1	0
DDR2	4921	broad.mit.edu	37	1	162725532	162725532	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:162725532C>G	ENST00000367922.3	+	8	1082	c.644C>G	c.(643-645)tCt>tGt	p.S215C	DDR2_ENST00000367921.3_Missense_Mutation_p.S215C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTGAATGATTCTGTCTATGAT	0.418000													44	163					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132687343	132687343	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:132687343C>T	ENST00000420781.1	-	9	1101	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	FNBP1_ENST00000355681.3_Missense_Mutation_p.V295M|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Missense_Mutation_p.V295M			Q96RU3	FNBP1_HUMAN	formin binding protein 1	295	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTATCTGACACAGTGCGCTTC	0.413000			T	MLL	AML								9	31					0	0	1	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64920896	64920896	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:64920896G>C	ENST00000399438.3	+	1	354	c.9G>C	c.(7-9)gtG>gtC	p.V3V	TRAPPC13_ENST00000545191.1_Silent_p.V3V|TRAPPC13_ENST00000505553.1_Silent_p.V3V|TRAPPC13_ENST00000438419.2_Silent_p.V3V|TRAPPC13_ENST00000231526.4_Silent_p.V3V|CTC-534A2.2_ENST00000510585.2_5'UTR	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		AAATGGAAGTGAATCCCCCTA	0.517000													8	27					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132620767	132620767	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:132620767G>A	ENST00000315480.4	+	6	378	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	USP20_ENST00000358355.1_Missense_Mutation_p.V74M|USP20_ENST00000372429.3_Missense_Mutation_p.V74M			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	74					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAACTTGACCGTGAACCTGAC	0.557000													4	100					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83591072	83591072	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:83591072G>A	ENST00000265362.4	-	17	2245	c.1931C>T	c.(1930-1932)tCa>tTa	p.S644L	SEMA3A_ENST00000436949.1_Missense_Mutation_p.S644L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GTAATTGCCTGAATCCTTCTG	0.423000													15	41					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166911191	166911191	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:166911191G>A	ENST00000423058.2	-	4	576	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R187W|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R187W|SCN1A_ENST00000303395.4_Missense_Mutation_p.R187W	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	187						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATGGATCCCGAAGGAAAGTA	0.353000													5	37					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75900481	75900481	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr13:75900481C>G	ENST00000377636.3	-	10	2231	c.1885G>C	c.(1885-1887)Gag>Cag	p.E629Q	TBC1D4_ENST00000431480.2_Missense_Mutation_p.E629Q|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E629Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	629						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCGGAATCCTCTTCGGGAAAC	0.577000													16	31					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96294554	96294554	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:96294554G>A	ENST00000277165.6	+	10	2046	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K	FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000333936.5_Missense_Mutation_p.E646K|FAM120A_ENST00000340893.4_Missense_Mutation_p.E618K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	618						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTTTGGCAGAAAGCAGAAA	0.438000													15	93					0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79649081	79649081	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:79649081C>T	ENST00000397498.4	-	4	503	c.405G>A	c.(403-405)ctG>ctA	p.L135L	ARL16_ENST00000570561.1_Silent_p.L49L|ARL16_ENST00000574938.1_Silent_p.L31L|ARL16_ENST00000576135.1_Silent_p.L49L|ARL16_ENST00000573392.1_Silent_p.L31L	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	135							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGAAGAGTATCAGCACCGATG	0.577000													5	20					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5832250	5832250	+	Missense_Mutation	SNP	C	C	T	rs72486354		TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:5832250C>T	ENST00000318336.4	-	3	1523	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	FUT6_ENST00000527106.1_Missense_Mutation_p.R110Q|FUT6_ENST00000286955.5_Missense_Mutation_p.R110Q|FUT6_ENST00000592563.1_Missense_Mutation_p.R110Q|FUT6_ENST00000524754.1_Missense_Mutation_p.R110Q	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	110					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CATGACCTCTCGGTGGTGCAC	0.647000													22	43					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942524	11942524	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:11942524G>C	ENST00000304060.5	+	4	697	c.533G>C	c.(532-534)gGa>gCa	p.G178A		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGTATGTGGAAAAACCTTT	0.408000													56	137					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88959987	88959987	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:88959987T>C	ENST00000375961.2	-	5	1116	c.902A>G	c.(901-903)aAa>aGa	p.K301R	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.K301R|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.K134R|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.K301R			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	301					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTGTACCACTTTGTCAATGGC	0.418000													19	61					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7585982	7585982	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr12:7585982C>T	ENST00000313599.3	-	3	490	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	CD163L1_ENST00000396630.1_Missense_Mutation_p.V145M|CD163L1_ENST00000416109.2_Missense_Mutation_p.V145M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	145	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TAACAGTTCACACCAACATCT	0.438000													10	87					0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33486988	33486988	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:33486988C>T	ENST00000373449.2	-	4	446	c.405G>A	c.(403-405)ctG>ctA	p.L135L	AK2_ENST00000487289.1_Silent_p.L135L|AK2_ENST00000354858.6_Silent_p.L135L|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000467905.1_Silent_p.L135L|AK2_ENST00000548033.1_Silent_p.L93L|AK2_ENST00000480134.1_Intron	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	135					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTCTTCGGATCAGCAGAGAGT	0.463000													17	90					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82789424	82789424	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:82789424C>G	ENST00000265077.3	+	4	1070	c.505C>G	c.(505-507)Cag>Gag	p.Q169E	VCAN_ENST00000512590.2_Missense_Mutation_p.Q121E|VCAN_ENST00000513984.1_Missense_Mutation_p.Q169E|VCAN_ENST00000343200.5_Missense_Mutation_p.Q169E|VCAN_ENST00000502527.2_Missense_Mutation_p.Q169E|VCAN_ENST00000342785.4_Missense_Mutation_p.Q169E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	169	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAGGCTGCTCAGAAGGCTTG	0.512000													10	60					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40272350	40272350	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:40272350C>G	ENST00000225916.5	-	3	555	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E202Q	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	168					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGGTTTATCTCATCCTCTGAC	0.463000													14	84					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44900705	44900705	+	Silent	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:44900705G>T	ENST00000261866.7	-	19	3406	c.3390C>A	c.(3388-3390)ctC>ctA	p.L1130L	SPG11_ENST00000558319.1_Silent_p.L1130L|SPG11_ENST00000427534.2_Silent_p.L1130L|SPG11_ENST00000535302.2_Silent_p.L1130L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1130					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTGTGGGAAGAGAGCAGTTT	0.413000													4	57					0.00909568	0.00920083	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21299518	21299518	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:21299518G>A	ENST00000602326.1	-	9	1004	c.421C>T	c.(421-423)Cca>Tca	p.P141S	EIF4G3_ENST00000264211.8_Missense_Mutation_p.P134S|EIF4G3_ENST00000374935.3_Missense_Mutation_p.P134S|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P141S|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P134S|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P134S|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P145S|EIF4G3_ENST00000536266.1_5'UTR	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	134	PABPC1-binding.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTCTTGGCTGGAGGCGGCTGT	0.353000													18	50					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171519293	171519293	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:171519293G>A	ENST00000367742.3	+	18	5283	c.5041G>A	c.(5041-5043)Gat>Aat	p.D1681N	PRRC2C_ENST00000392078.3_Missense_Mutation_p.D1681N|PRRC2C_ENST00000338920.4_Missense_Mutation_p.D1679N|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D1679N			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1679							protein C-terminus binding										TTTGAATGATGATGGTTTTAC	0.348000													7	16					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72324851	72324851	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:72324851T>C	ENST00000356056.5	-	3	1391	c.919A>G	c.(919-921)Aca>Gca	p.T307A	MYO9A_ENST00000564571.1_Missense_Mutation_p.T307A|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.T307A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T307A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	307	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACAGTGCCTGTTTCCTGGTAA	0.348000													18	42					0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64977817	64977817	+	Silent	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:64977817C>A	ENST00000527323.1	+	19	2193	c.1953C>A	c.(1951-1953)ctC>ctA	p.L651L	CAPN1_ENST00000524773.1_Silent_p.L651L|CAPN1_ENST00000533820.1_Silent_p.L651L|CAPN1_ENST00000279247.6_Silent_p.L651L|CAPN1_ENST00000533129.1_Silent_p.L651L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	651	Domain IV.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCTTCAAGCTCAACAAGAAGC	0.617000													4	7					0.217242	0.217242	1	1	0
HNRNPM	4670	broad.mit.edu	37	19	8550572	8550572	+	Silent	SNP	C	C	T	rs76937953	byFrequency	TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:8550572C>T	ENST00000348943.3	+	15	1375	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	HNRNPM_ENST00000325495.4_Silent_p.G420G	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	420					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGCGCATGGGCGCGGGCCTGG	0.692000													42	123					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32358089	32358089	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:32358089C>T	ENST00000375200.1	+	10	1978	c.1613C>T	c.(1612-1614)gCc>gTc	p.A538V	ZNF341_ENST00000342427.2_Missense_Mutation_p.A531V	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AAGGACAATGCCGTCTACAAG	0.637000													3	57					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCTCCTGGCGCAGGGCCTGC	0.642000									Familial Hyperaldosteronism type I				6	130					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150067685	150067685	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:150067685C>T	ENST00000367403.3	-	1	129	c.130G>A	c.(130-132)Gag>Aag	p.E44K	NUP43_ENST00000463048.3_Intron|NUP43_ENST00000340413.2_5'UTR			Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	0					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACGCGCCTCTCAGCACCGCCT	0.547000											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	49					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216503	170216503	+	Missense_Mutation	SNP	C	C	T	rs141548910		TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:170216503C>T	ENST00000231706.5	-	4	1027	c.712G>A	c.(712-714)Ggg>Agg	p.G238R	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAGTATTTCCCATTGATGAAG	0.522000													17	68					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75093865	75093865	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:75093865G>A	ENST00000220003.9	+	10	1545	c.816G>A	c.(814-816)ggG>ggA	p.G272G	CSK_ENST00000567571.1_Silent_p.G272G|CSK_ENST00000309470.9_Silent_p.G272G|CSK_ENST00000439220.2_Silent_p.G272G	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	272	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GCCCCCAGGGGAGCCTTGTGG	0.642000													7	36					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156845869	156845869	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:156845869C>T	ENST00000358660.3	+	12	1531	c.1490C>T	c.(1489-1491)tCa>tTa	p.S497L	NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000524377.1_Intron			P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	501					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAAGCCCCCTCAGGTGTTCAC	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			18	128					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937205	76937205	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chrX:76937205G>C	ENST00000373344.5	-	9	3757	c.3543C>G	c.(3541-3543)gtC>gtG	p.V1181V	ATRX_ENST00000395603.3_Silent_p.V1143V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1181					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTCTCCTTGACAATGACTG	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						48	84					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394072	64394072	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:64394072C>G	ENST00000262043.3	+	4	789	c.449C>G	c.(448-450)tCa>tGa	p.S150*	PHF3_ENST00000509330.1_Nonsense_Mutation_p.S150*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.S150*			Q92576	PHF3_HUMAN	PHD finger protein 3	150					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCCAAGCGTTCAAATGCAGCA	0.368000													24	174					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2202757	2202757	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:2202757C>T	ENST00000398665.3	+	9	802	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	256						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGAAGGAGCGGTTTGCAAA	0.527000													12	49					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26092911	26092911	+	Splice_Site	SNP	A	A	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:26092911A>T	ENST00000357618.5	+	4	738		c.e4-1		HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Intron|HFE_ENST00000353147.5_Splice_Site|HFE_ENST00000488199.1_Intron|HFE_ENST00000317896.7_Splice_Site|HFE_ENST00000336625.8_Intron|HFE_ENST00000397022.3_Splice_Site|HFE_ENST00000349999.4_Splice_Site|HFE_ENST00000309234.6_Splice_Site|HFE_ENST00000470149.1_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis						antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTCCTGTCAAGTGCCTCCTT	0.498000									Hemochromatosis				20	88					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520108	58520108	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:58520108C>T	ENST00000302819.5	-	3	593	c.302G>A	c.(301-303)cGt>cAt	p.R101H	ACOX2_ENST00000459701.2_Missense_Mutation_p.R101H	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	101					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GCCTAATTCACGACCATCTTC	0.537000													15	100					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120003084	120003084	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:120003084G>C	ENST00000354888.5	+	3	516	c.12G>C	c.(10-12)gaG>gaC	p.E4D	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393107.2_Missense_Mutation_p.E4D|STEAP3_ENST00000425223.2_Missense_Mutation_p.E4D|STEAP3_ENST00000409811.1_Missense_Mutation_p.E4D|STEAP3_ENST00000393108.2_Missense_Mutation_p.E4D|STEAP3_ENST00000450943.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393110.2_Missense_Mutation_p.E14D	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	4					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGCCAGAAGAGATGGACAAGC	0.587000													6	31					0	0	1	0	0
SOD1	6647	broad.mit.edu	37	21	33039678	33039678	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr21:33039678G>T	ENST00000270142.6	+	4	495	c.347G>T	c.(346-348)cGc>cTc	p.R116L	SOD1_ENST00000470944.1_3'UTR|SOD1_ENST00000389995.4_Missense_Mutation_p.R97L	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	116			R -> G (in ALS1).		activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)	4						ATCATTGGCCGCACACTGGTG	0.418000													27	86					2.48779e-11	2.72103e-11	1	1	0
TEKT5	146279	broad.mit.edu	37	16	10783858	10783858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:10783858G>A	ENST00000283025.2	-	2	660	c.589C>T	c.(589-591)Cga>Tga	p.R197*		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	197					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.R197R(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTCTTCTCTCGATGGTACAGA	0.522000													17	43					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438508	25438508	+	RNA	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:25438508G>A	ENST00000424208.1	+	0	1367				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1																						GAAGAGAGGTGATGACTTAAA	0.517000													30	330					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40354828	40354828	+	Splice_Site	SNP	T	T	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:40354828T>G	ENST00000293328.3	-	17	2246		c.e17-2			NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B						2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CAGCTTTAGCTGCCAAGGGAA	0.443000													10	73					0	0	1	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250648	26250648	+	Silent	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:26250648C>G	ENST00000446824.2	-	1	187	c.186G>C	c.(184-186)ctG>ctC	p.L62L		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	62					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						GCTTGCGAATCAGTAGCTCAG	0.617000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	138					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66535525	66535525	+	Missense_Mutation	SNP	G	G	T	rs78050433	byFrequency	TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:66535525G>T	ENST00000592554.1	-	10	2036	c.1314C>A	c.(1312-1314)caC>caA	p.H438Q	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	438						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CATCATGGGAGTGTCGTCCGA	0.507000													9	53					0.000274275	0.000281514	1	1	0
TRAFD1	10906	broad.mit.edu	37	12	112572654	112572654	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr12:112572654C>G	ENST00000257604.5	+	3	777	c.160C>G	c.(160-162)Cac>Gac	p.H54D	TRAFD1_ENST00000412615.2_Missense_Mutation_p.H54D	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	54					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CATGGAGACTCACATGGCTGC	0.408000													28	91					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605831	13605831	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:13605831C>T	ENST00000040738.5	-	10	2828	c.2693G>A	c.(2692-2694)cGa>cAa	p.R898Q		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	898	Lys-rich.						DNA binding										CTTTGTTCGTCGTTTCTCCTT	0.363000													8	59					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47610659	47610659	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:47610659C>T	ENST00000383738.2	-	4	3539	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	CSPG5_ENST00000456150.1_Missense_Mutation_p.E343K|CSPG5_ENST00000264723.4_Missense_Mutation_p.E481K	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	481					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	p.E481K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGAGAGCCCTCGGCAATGGTG	0.498000													8	18					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16419029	16419029	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:16419029G>A	ENST00000380672.4	-	7	3315	c.3258C>T	c.(3256-3258)aaC>aaT	p.N1086N	BNC2_ENST00000380667.2_Silent_p.N1019N|BNC2_ENST00000545497.1_Silent_p.N991N	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	1086					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGAGATTAGGGTTCTGACTGT	0.438000													11	61					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130042515	130042515	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:130042515G>C	ENST00000223208.5	-	7	818	c.548C>G	c.(547-549)tCt>tGt	p.S183C	CEP41_ENST00000343969.5_Missense_Mutation_p.S183C|CEP41_ENST00000541543.1_Missense_Mutation_p.S167C	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa		Rhodanese.				G2/M transition of mitotic cell cycle	centrosome|cytosol											CTGCTGGTAAGAATCTCTATC	0.498000													33	128					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67979685	67979685	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:67979685C>G	ENST00000422611.2	-	20	2874	c.2835G>C	c.(2833-2835)aaG>aaC	p.K945N	SLC12A4_ENST00000541864.2_Missense_Mutation_p.K912N|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K943N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K937N|SLC12A4_ENST00000316341.3_Missense_Mutation_p.K943N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K895N	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	943					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCGCTCAGTCTTGGTCAGTC	0.607000													9	64					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684717	80684717	+	Silent	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:80684717C>A	ENST00000269373.6	+	6	673	c.600C>A	c.(598-600)atC>atA	p.I200I	FN3KRP_ENST00000535965.1_Silent_p.I150I	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	200							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGTTAAAGATCCCTGACCTGT	0.597000													20	108					4.96729e-08	5.28435e-08	1	1	0
FAM184A	79632	broad.mit.edu	37	6	119297156	119297156	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:119297156G>A	ENST00000338891.7	-	12	2952	c.2509C>T	c.(2509-2511)Cgg>Tgg	p.R837W	FAM184A_ENST00000368475.4_Missense_Mutation_p.R717W|FAM184A_ENST00000521531.1_Missense_Mutation_p.R837W|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.R717W	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	837										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGATTATGCCGTAACAAATCA	0.378000													3	56					0	0	1	0	0
RAC3	5881	broad.mit.edu	37	17	79990652	79990652	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:79990652C>T	ENST00000306897.4	+	3	311	c.173C>T	c.(172-174)aCa>aTa	p.T58I		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	58					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGTGGGACACAGCGGGTCAG	0.612000													10	83					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151023854	151023854	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:151023854C>G	ENST00000296550.7	+	2	1400	c.646C>G	c.(646-648)Ctg>Gtg	p.L216V	DCLK2_ENST00000506325.1_Missense_Mutation_p.L216V|DCLK2_ENST00000302176.8_Missense_Mutation_p.L216V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	216	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCGGATCCTTCTGAATAAAAA	0.418000													22	44					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33468069	33468069	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:33468069C>T	ENST00000379471.2	-	11	1470	c.1383G>A	c.(1381-1383)atG>atA	p.M461I	NOL6_ENST00000455041.2_Missense_Mutation_p.M409I|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	461					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTTTGGGAGTCATCAACAGCA	0.567000													12	79					0	0	1	0	0
DEFB114	245928	broad.mit.edu	37	6	49928136	49928136	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:49928136C>T	ENST00000322066.3	-	2	78	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	27					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					GTGCAACGATCAGCATTCACC	0.353000													13	50					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58867574	58867574	+	Silent	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:58867574C>G	ENST00000311044.3	-	3	1616	c.1428G>C	c.(1426-1428)ggG>ggC	p.G476G	ZNF497_ENST00000425453.3_Silent_p.G476G|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGAAAGGCTTCCCGCACTCGC	0.697000													5	17					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134495696	134495696	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:134495696C>T	ENST00000367858.5	-	4	987	c.390G>A	c.(388-390)ctG>ctA	p.L130L	SGK1_ENST00000237305.7_Silent_p.L35L|SGK1_ENST00000413996.3_Silent_p.L49L|SGK1_ENST00000528577.1_Silent_p.L63L|SGK1_ENST00000475719.2_Silent_p.L35L|SGK1_ENST00000367857.5_Silent_p.L25L	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	35	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TAAAGTCGTTCAGACCCATCC	0.428000											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	58					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324113	136324113	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:136324113C>G	ENST00000394945.1	-	8	1095	c.926G>C	c.(925-927)gGa>gCa	p.G309A	SPOCK1_ENST00000282223.7_Missense_Mutation_p.G309A|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	309					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCTTACCTCCAGGCTTCTG	0.542000													14	39					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95543212	95543212	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:95543212C>G	ENST00000297591.5	-	6	661	c.586G>C	c.(586-588)Gat>Cat	p.D196H	KIAA1429_ENST00000437199.1_Missense_Mutation_p.D196H|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D196H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	196	Pro-rich.				mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACAGGATCATCTTCATCATCA	0.458000													5	41					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22327043	22327043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr22:22327043G>A	ENST00000398793.2	-	4	684	c.250C>T	c.(250-252)Caa>Taa	p.Q84*	TOP3B_ENST00000357179.5_Nonsense_Mutation_p.Q84*|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	84	Toprim.				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GTGGGAGCTTGGCTGAACAGT	0.557000											OREG0026347	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	44					0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245440	137245440	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:137245440G>A	ENST00000331858.4	+	2	1022	c.857G>A	c.(856-858)gGc>gAc	p.G286D		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	286					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		TTCATTGCCGGCGTGGTGGTG	0.592000													5	29					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32841333	32841333	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr13:32841333C>T	ENST00000380250.3	+	55	8469	c.7973C>T	c.(7972-7974)tCt>tTt	p.S2658F	FRY_ENST00000542859.1_Missense_Mutation_p.S28F	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGGGAGTCTCTCCCCCTCCC	0.527000													27	176					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59382787	59382787	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:59382787C>T	ENST00000263847.1	-	1	830	c.351G>A	c.(349-351)ctG>ctA	p.L117L		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	117	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGTAGTAGCTCAGGAGCCCGT	0.617000													7	9					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59857681	59857681	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:59857681C>T	ENST00000259008.2	-	13	2143	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	BRIP1_ENST00000577598.1_Missense_Mutation_p.E626K	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	626					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACACCAAGTTCTGACGAAAAG	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					30	85					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38694854	38694854	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr22:38694854G>A	ENST00000396832.1	-	7	1082	c.822C>T	c.(820-822)cgC>cgT	p.R274R	CSNK1E_ENST00000413574.2_Silent_p.R274R|CSNK1E_ENST00000403904.1_Silent_p.R274R|CSNK1E_ENST00000405675.3_Silent_p.R274R|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Silent_p.R274R|CSNK1E_ENST00000359867.3_Silent_p.R274R	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	274	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGAAGAGGTTGCGGAAGAGCT	0.557000											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	84					0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24260797	24260797	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:24260797G>A	ENST00000295148.4	-	2	1625	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L	C2orf44_ENST00000406895.3_Missense_Mutation_p.S523L	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	523							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGGCAGCGATGCTGGCTG	0.488000			T	ALK	NSCLC								13	52					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46569365	46569365	+	Splice_Site	SNP	A	A	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:46569365A>T	ENST00000458649.2	-	3	613		c.e3+1		AMBRA1_ENST00000314845.3_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site|AMBRA1_ENST00000528950.1_Splice_Site			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AATACTGAGTACCTGTCTGGG	0.388000													4	8					0	0	1	0	0
CIB1	10519	broad.mit.edu	37	15	90774413	90774413	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:90774413C>T	ENST00000328649.6	-	5	540	c.379G>A	c.(379-381)Gac>Aac	p.D127N		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	127	EF-hand 1.				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CGGCTCAGGTCTTCTCTGTTC	0.577000													26	66					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167711431	167711431	+	Splice_Site	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:167711431A>G	ENST00000230256.3	+	4	674		c.e4-1		UNC93A_ENST00000366829.2_Intron	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)							integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTGACTTCATAGAGACCCTTC	0.537000													9	75					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33697224	33697224	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:33697224G>A	ENST00000253193.7	+	5	1750	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	516					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCATCGCGCTGGGCTGCGCCT	0.672000													5	12					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60971406	60971406	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:60971406G>C	ENST00000279101.5	-	3	500	c.492C>G	c.(490-492)atC>atG	p.I164M		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	164					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCATGTTCTTGATGAAGTGGG	0.567000													78	117					0	0	1	0	0
ERP44	23071	broad.mit.edu	37	9	102744902	102744902	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:102744902C>T	ENST00000262455.6	-	12	1412	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	405					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TTTTAAAGCTCATCTCGATCC	0.393000													4	43					0	0	1	0	0
NECAB3	63941	broad.mit.edu	37	20	32248107	32248107	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:32248107T>A	ENST00000246190.6	-	6	537	c.482A>T	c.(481-483)gAg>gTg	p.E161V	NECAB3_ENST00000375238.4_Missense_Mutation_p.E161V|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	161					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						TGACGCCCCCTCCAGCGAGCT	0.632000													13	46					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767576	88767576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:88767576C>A	ENST00000497649.2	+	6	1862	c.1484C>A	c.(1483-1485)tCa>tAa	p.S495*	MEPE_ENST00000560249.1_Nonsense_Mutation_p.S406*|MEPE_ENST00000361056.3_Nonsense_Mutation_p.S519*|MEPE_ENST00000540395.1_Nonsense_Mutation_p.S406*|MEPE_ENST00000395102.4_Nonsense_Mutation_p.S550*|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Nonsense_Mutation_p.S519*			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	519					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGTGGCAGTTCAAGTGAGAGC	0.542000													40	120					6.07928e-31	6.75475e-31	1	1	0
IFNK	56832	broad.mit.edu	37	9	27524888	27524888	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:27524888T>C	ENST00000276943.2	+	1	577	c.554T>C	c.(553-555)aTt>aCt	p.I185T	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	185					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GCCTGGGAGATTGTCCGAGTG	0.398000													12	30					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31811633	31811633	+	Silent	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:31811633C>A	ENST00000375454.3	+	2	354	c.144C>A	c.(142-144)ctC>ctA	p.L48L	BPIFA3_ENST00000375452.3_Silent_p.L48L|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	48						extracellular region	lipid binding										CTCAGGGCCTCATAAAGCACA	0.552000													12	56					4.3838e-07	4.62148e-07	1	1	0
OR6N1	128372	broad.mit.edu	37	1	158736319	158736319	+	Missense_Mutation	SNP	C	C	A	rs147418101		TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:158736319C>A	ENST00000335094.2	-	1	173	c.154G>T	c.(154-156)Gac>Tac	p.D52Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGCCGGGAGTCCAGGCAGACC	0.498000													4	60					0.184627	0.185156	1	1	0
AKR1C4	1109	broad.mit.edu	37	10	5258729	5258729	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:5258729G>A	ENST00000380448.1	+	10	1155	c.902G>A	c.(901-903)aGa>aAa	p.R301K	AKR1C4_ENST00000263126.1_Missense_Mutation_p.R301K			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	301					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	GGTCTAAACAGAAATTATCGA	0.333000													9	33					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54592472	54592472	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:54592472G>T	ENST00000545554.1	+	12	4169	c.4169G>T	c.(4168-4170)gGg>gTg	p.G1390V	UNC13C_ENST00000260323.11_Missense_Mutation_p.G1390V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1388V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1390					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAGTCAAAGGGGATGAAGCC	0.373000													5	4					0.184627	0.185156	1	1	0
OMG	4974	broad.mit.edu	37	17	29622353	29622353	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:29622353G>A	ENST00000247271.4	-	2	1258	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	333					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TCTGGATAGGGCACAAAAGCC	0.418000													4	184					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452198	43452198	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:43452198C>T	ENST00000282388.3	-	2	1038	c.745G>A	c.(745-747)Gag>Aag	p.E249K	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	249					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCCGCGGCTCCCGCGGGAAG	0.751000													3	28					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60348350	60348350	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr13:60348350T>A	ENST00000400324.4	-	27	3512	c.3292A>T	c.(3292-3294)Agg>Tgg	p.R1098W	DIAPH3_ENST00000400319.1_Missense_Mutation_p.R1028W|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1087W|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1098W|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R1052W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R1098W|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1098					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGAACAGGCCTCTGAGACATT	0.323000													6	59					0	0	1	0	0
SSSCA1	10534	broad.mit.edu	37	11	65338389	65338389	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:65338389C>G	ENST00000531405.1	+	2	329	c.93C>G	c.(91-93)atC>atG	p.I31M	SSSCA1_ENST00000309328.3_Missense_Mutation_p.I68M|SSSCA1_ENST00000526877.1_Missense_Mutation_p.S63C|SSSCA1_ENST00000527920.1_Missense_Mutation_p.I31M			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	68					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AGCGGAAAATCTACTGCGTGG	0.557000													5	37					0	0	1	0	0
EIF3I	8668	broad.mit.edu	37	1	32696762	32696762	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:32696762G>A	ENST00000373586.1	+	11	1015	c.943G>A	c.(943-945)Gac>Aac	p.D315N		NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	315						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CCATTACTTCGACCCACAGTA	0.512000													12	45					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41860467	41860467	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:41860467C>T	ENST00000263798.3	+	8	1238	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	TYRO3_ENST00000559066.1_Silent_p.L293L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	338	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATTCAGGCCTCATCTTGGAGT	0.577000													3	34					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26096580	26096580	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:26096580C>G	ENST00000313735.6	-	16	2073	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	614	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.E614K(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTGTTGAGCTCTTTCAGCATG	0.453000													19	53					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	63991337	63991337	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:63991337G>A	ENST00000371088.4	+	2	340	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	32							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ACTAACTGAAGAGGAAATATT	0.363000													6	59					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764211	133764211	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:133764211G>C	ENST00000356838.3	-	4	276	c.134C>G	c.(133-135)tCt>tGt	p.S45C	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S45C|TMEM71_ENST00000523829.1_Missense_Mutation_p.S45C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	45						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCAAAAGAATGGTAACC	0.448000													12	40					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	G	rs112431538		TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:7577085C>G	ENST00000420246.2	-	8	985	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	TP53_ENST00000445888.2_Missense_Mutation_p.E285Q|TP53_ENST00000269305.4_Missense_Mutation_p.E285Q|TP53_ENST00000455263.2_Missense_Mutation_p.E285Q|TP53_ENST00000359597.4_Missense_Mutation_p.E285Q|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; 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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			10	29					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14076339	14076339	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:14076339G>A	ENST00000254325.4	-	16	2367	c.2133C>T	c.(2131-2133)atC>atT	p.I711I		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	711					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CAAAGTTCCGGATCGCTTGGG	0.662000													38	73					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25254052	25254052	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:25254052C>T	ENST00000264864.6	+	2	567	c.378C>T	c.(376-378)atC>atT	p.I126I	PI4K2B_ENST00000512921.1_Silent_p.I30I	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	126						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	p.I126I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CAGAAAGAATCTCTCAAGGTT	0.368000													12	67					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233399896	233399896	+	Silent	SNP	G	G	A	rs144597817	by1000genomes	TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:233399896G>A	ENST00000258385.3	+	12	1460	c.1428G>A	c.(1426-1428)gtG>gtA	p.V476V	CHRND_ENST00000543200.1_Silent_p.V461V|CHRND_ENST00000457943.2_Silent_p.V282V	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	476					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCCTGTTTGTGGTGACGCCTG	0.622000													20	48					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206441	71206441	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:71206441C>A	ENST00000272421.6	+	2	651	c.385C>A	c.(385-387)Cag>Aag	p.Q129K	ANKRD53_ENST00000457410.1_Missense_Mutation_p.Q95K|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Missense_Mutation_p.Q95K|ANKRD53_ENST00000360589.3_Missense_Mutation_p.Q129K	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	129										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CTGTCTGAACCAGAGCCTCAG	0.607000													9	39					9.16793e-09	9.84287e-09	1	1	0
CIRBP	1153	broad.mit.edu	37	19	1272363	1272363	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:1272363C>A	ENST00000444172.2	+	5	790	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	CIRBP_ENST00000589710.1_Missense_Mutation_p.S272Y|CIRBP_ENST00000587323.1_Missense_Mutation_p.S272Y|CIRBP_ENST00000588030.1_Intron|CIRBP_ENST00000588230.1_Missense_Mutation_p.S272Y|CIRBP_ENST00000320936.5_Intron|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000413636.2_Missense_Mutation_p.S238Y|CIRBP_ENST00000585630.1_Intron|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000586472.1_Intron|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000587896.1_Missense_Mutation_p.S272Y|CIRBP_ENST00000589235.1_Intron|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000589686.1_Intron			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	116					mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTGGCCTCtggggtgaag	0.627000													32	90					1.41851e-31	1.58114e-31	1	1	0
MIR3654	100500804	broad.mit.edu	37	11	62344706	62344706	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:62344706G>C	ENST00000496634.2	-	6	1263	c.1218C>G	c.(1216-1218)gtC>gtG	p.V406V	TUT1_ENST00000476907.1_Silent_p.V406V|TUT1_ENST00000308436.7_Silent_p.V444V																NS(1)	1						CGAGGGGCCGGACTCGACCAT	0.607000													11	33					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057639	57057639	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:57057639G>A	ENST00000308249.2	+	7	1644	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	514					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.E505D(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ATTGGACAGAGAACTCTTTTC	0.488000													28	81					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6243778	6243778	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:6243778G>C	ENST00000265978.4	-	6	1443	c.1085C>G	c.(1084-1086)tCa>tGa	p.S362*	FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.S362*|FAM160A2_ENST00000449352.2_Nonsense_Mutation_p.S362*	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	362					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCAGGCTCTGAGATACTCCG	0.522000													9	36					0	0	1	0	0
RHOC	389	broad.mit.edu	37	1	113244330	113244330	+	Silent	SNP	G	G	A	rs146245689	byFrequency	TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:113244330G>A	ENST00000285735.2	-	6	1623	c.414C>T	c.(412-414)ccC>ccT	p.P138P	RHOC_ENST00000369633.2_Silent_p.P138P|RHOC_ENST00000369638.2_Silent_p.P138P|RHOC_ENST00000369632.2_Silent_p.P138P|RHOC_ENST00000369636.2_Intron|RHOC_ENST00000339083.7_Silent_p.P138P|RHOC_ENST00000369637.1_Silent_p.P138P|RHOC_ENST00000369642.3_Silent_p.P138P			P08134	RHOC_HUMAN	ras homolog family member C	138					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGACCGAACGGGCTCCTGAG	0.552000													4	66					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132424776	132424776	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:132424776C>T	ENST00000304858.2	+	10	1456	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	389					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTCAAAGTCAGAGAATTTT	0.313000													11	54					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46891982	46891982	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:46891982A>G	ENST00000012443.4	+	11	1452	c.1349A>G	c.(1348-1350)aAc>aGc	p.N450S	PPP5C_ENST00000391919.1_Missense_Mutation_p.N322S	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	450	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TCTGCCCCCAACTACTGGTAT	0.522000													8	89					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78413159	78413159	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:78413159C>G	ENST00000278550.7	-	28	4961	c.4499G>C	c.(4498-4500)aGt>aCt	p.S1500T		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GATCTCTCCACTAGTGGTGAC	0.498000													4	30					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111652091	111652091	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr12:111652091G>A	ENST00000261726.6	+	2	305	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACTCCGCCGGGAATTTAAGAA	0.383000													10	56					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2410334	2410334	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:2410334C>T	ENST00000332578.3	+	8	1094	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	365	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACGGCCATTCACTCACTGAC	0.587000													13	49					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316560	39316560	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:39316560G>A	ENST00000390661.3	-	1	423	c.384C>T	c.(382-384)tcC>tcT	p.S128S		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	128	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAGCTGGACACACAGT	0.672000													26	58					0	0	1	0	0
RNASET2	8635	broad.mit.edu	37	6	167365990	167365990	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:167365990C>G	ENST00000366855.6	-	3	694	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	RNASET2_ENST00000508775.1_Missense_Mutation_p.E45Q|RNASET2_ENST00000476238.2_Missense_Mutation_p.E45Q|RP11-514O12.4_ENST00000507747.1_Silent_p.L25L|RNASET2_ENST00000496851.2_5'UTR			O00584	RNT2_HUMAN	ribonuclease T2	45					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		CATACTGTCTCAGGCCAGTGC	0.473000													6	64					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58238780	58238780	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:58238780C>T	ENST00000317398.6	-	1	212	c.117G>A	c.(115-117)gcG>gcA	p.A39A	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Silent_p.A39A|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCGTTAGCTCCGCCATAGGAC	0.687000													15	16					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929486	32929486	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:32929486G>T	ENST00000361627.3	+	12	3234	c.2512G>T	c.(2512-2514)Gtt>Ttt	p.V838F	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.V649F|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.V649F	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	838					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GCGTACTCCTGTTCGTCAGTC	0.393000													5	92					0.00116845	0.00119229	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162379	90162379	+	RNA	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:90162379A>G	ENST00000567960.1	+	0	1115				TUBB8P7_ENST00000564451.1_RNA																							TGGGAATAATACGGCCATCCA	0.522000													4	159					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161408	123161408	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:123161408G>A	ENST00000264501.4	+	29	4944	c.4571G>A	c.(4570-4572)aGa>aAa	p.R1524K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1524K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1524K			Q2LD37	K1109_HUMAN	KIAA1109	1524					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACCAACAAAAGAACCTCTAAA	0.408000													29	72					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35945511	35945511	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:35945511G>C	ENST00000339208.6	-	5	539	c.399C>G	c.(397-399)ctC>ctG	p.L133L	SYNRG_ENST00000346661.4_Silent_p.L133L|SYNRG_ENST00000591288.1_Silent_p.L133L|SYNRG_ENST00000585472.1_Silent_p.L132L|SYNRG_ENST00000345615.4_Silent_p.L133L|SYNRG_ENST00000502449.2_Silent_p.L133L|SYNRG_ENST00000394378.2_Silent_p.L133L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	133					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCTTCTAAGAGTTTTTGCT	0.368000													9	89					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130042544	130042544	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:130042544G>C	ENST00000223208.5	-	7	789	c.519C>G	c.(517-519)ttC>ttG	p.F173L	CEP41_ENST00000343969.5_Missense_Mutation_p.F173L|CEP41_ENST00000541543.1_Missense_Mutation_p.F157L	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa		Rhodanese.				G2/M transition of mitotic cell cycle	centrosome|cytosol											CTAGCAGCAGGAAGGGGCAGT	0.493000													29	145					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67864421	67864421	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:67864421G>C	ENST00000562787.1	-	11	1282	c.734C>G	c.(733-735)tCt>tGt	p.S245C	CENPT_ENST00000440851.2_Missense_Mutation_p.S245C|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.S245C|CENPT_ENST00000564817.1_Missense_Mutation_p.S245C	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	245					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CATGGGCTGAGAGAACGGCTG	0.607000													16	25					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200729987	200729987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:200729987C>T	ENST00000358823.2	+	2	430	c.160C>T	c.(160-162)Caa>Taa	p.Q54*	CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.Q54*|CAMSAP2_ENST00000236925.4_Nonsense_Mutation_p.Q54*	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	54						cytoplasm|microtubule	protein binding										AGAGGAACTTCAAGAACCATT	0.308000													24	71					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76600963	76600963	+	Silent	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:76600963A>G	ENST00000369981.3	+	27	3165	c.2886A>G	c.(2884-2886)gcA>gcG	p.A962A	MYO6_ENST00000369975.1_Silent_p.A962A|MYO6_ENST00000369985.4_Silent_p.A962A|MYO6_ENST00000369977.3_Silent_p.A962A			Q9UM54	MYO6_HUMAN	myosin VI	962	Glu-rich.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGATGGAAGCAAAGAGAAAAC	0.284000													4	33					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129921181	129921181	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:129921181T>A	ENST00000368654.3	-	4	626	c.251A>T	c.(250-252)cAt>cTt	p.H84L	MKI67_ENST00000368653.3_Missense_Mutation_p.H84L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	84					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TACATCTCCATGTTTTAGCCG	0.363000													11	53					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122288566	122288566	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:122288566G>A	ENST00000296161.4	+	3	1819	c.1630G>A	c.(1630-1632)Ggc>Agc	p.G544S	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	544					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCCACTCAAGGGCTCTGTGAG	0.453000													19	88					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168845836	168845836	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:168845836T>C	ENST00000464456.1	-	4	1262	c.62A>G	c.(61-63)tAt>tGt	p.Y21C	MECOM_ENST00000433243.2_Missense_Mutation_p.Y21C|MECOM_ENST00000468789.1_Missense_Mutation_p.Y21C|MECOM_ENST00000264674.3_Missense_Mutation_p.Y85C|MECOM_ENST00000472280.1_Missense_Mutation_p.Y21C|MECOM_ENST00000392736.3_Missense_Mutation_p.Y21C|MECOM_ENST00000460814.1_Missense_Mutation_p.Y21C|MECOM_ENST00000494292.1_Missense_Mutation_p.Y209C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTCGCAGCGATATTGCCGTTC	0.418000													12	94					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154570907	154570907	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:154570907G>A	ENST00000368474.4	-	3	1955	c.1756C>T	c.(1756-1758)Cac>Tac	p.H586Y	ADAR_ENST00000292205.5_Missense_Mutation_p.H629Y|ADAR_ENST00000368471.3_Missense_Mutation_p.H291Y	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	586					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTGGAATAGTGGGATGATTCT	0.478000													23	97					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	602910	602910	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:602910G>C	ENST00000219611.2	+	13	3315	c.2952G>C	c.(2950-2952)ggG>ggC	p.G984G	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GTTGGGCGGGGCTCATCGTGG	0.647000													5	35					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104163121	104163121	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:104163121C>A	ENST00000020673.5	-	17	3437	c.2911G>T	c.(2911-2913)Gat>Tat	p.D971Y	PSD_ENST00000406432.1_Missense_Mutation_p.D971Y	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	971					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCACTGCATCCAGCTCCTCA	0.642000													8	45					0.00621372	0.00632209	1	1	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							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)				CCCACCCCCAGATGGTGGGTC	0.697000													7	21					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863737	108863737	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:108863737G>C	ENST00000329106.2	+	1	87	c.87G>C	c.(85-87)ttG>ttC	p.L29F	SULT1C3_ENST00000376700.1_Missense_Mutation_p.L29F	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	29						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TCCCTACGTTGATATTATCAA	0.408000													32	47					0	0	1	0	0
ATG5	9474	broad.mit.edu	37	6	106727548	106727548	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:106727548C>T	ENST00000369076.3	-	5	789	c.466G>A	c.(466-468)Gga>Aga	p.G156R	ATG5_ENST00000360666.4_Intron|ATG5_ENST00000343245.3_Missense_Mutation_p.G156R|ATG5_ENST00000369070.1_Missense_Mutation_p.G78R	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	156					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TTTTGCAATCCCATCCAGAGT	0.299000													6	119					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17548837	17548837	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:17548837G>A	ENST00000375471.4	+	2	237	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	49					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CTCCGGGGTGGAGGTCTTCAT	0.562000													22	57					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229236	74229236	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:74229236C>G	ENST00000316292.9	-	2	1139	c.148G>C	c.(148-150)Gga>Cga	p.G50R	EEF1A1_ENST00000331523.2_Missense_Mutation_p.G50R|EEF1A1_ENST00000309268.6_Missense_Mutation_p.G50R	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	50						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GAGCCCTTTCCCATCTGTAAG	0.433000											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	27	56					0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36468596	36468596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:36468596G>T	ENST00000405275.2	+	13	1468	c.1225G>T	c.(1225-1227)Gag>Tag	p.E409*	CTNNBL1_ENST00000361383.6_Nonsense_Mutation_p.E436*|CTNNBL1_ENST00000373469.1_Nonsense_Mutation_p.E184*|CTNNBL1_ENST00000373473.1_Nonsense_Mutation_p.E249*|CTNNBL1_ENST00000473857.1_3'UTR	NM_001281495.1	NP_001268424.1	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	436					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AAATGACAGTGAGAAGGTGGG	0.527000													15	26					1.15088e-07	1.21694e-07	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													3	45					0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79648876	79648876	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:79648876C>T	ENST00000397498.4	-	5	554	c.456G>A	c.(454-456)atG>atA	p.M152I	ARL16_ENST00000570561.1_Missense_Mutation_p.M66I|ARL16_ENST00000574938.1_Missense_Mutation_p.M48I|ARL16_ENST00000576135.1_Missense_Mutation_p.M66I|ARL16_ENST00000573392.1_Missense_Mutation_p.M48I	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	152							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTAATGACTTCATCTCCTCCG	0.577000													9	17					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192211	152192211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:152192211G>A	ENST00000368801.2	-	3	1969	c.1894C>T	c.(1894-1896)Cag>Tag	p.Q632*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	632					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAAGACTGACCTGAGGTA	0.567000													138	301					0	0	1	0	0
HBEGF	1839	broad.mit.edu	37	5	139725659	139725659	+	Silent	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:139725659T>A	ENST00000230990.6	-	2	359	c.57A>T	c.(55-57)gcA>gcT	p.A19A	HBEGF_ENST00000507104.1_Silent_p.A19A	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	19					epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCACCAGTGCCGAGAGAA	0.682000											OREG0016844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651444	84651444	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr15:84651444G>A	ENST00000286744.5	+	21	3288	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1022K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1022						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGACCACAGCGAAGCCAATAG	0.483000													21	43					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30692073	30692073	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:30692073G>A	ENST00000396389.1	+	4	1773	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	TUBB_ENST00000435534.1_Missense_Mutation_p.E211K|TUBB_ENST00000396384.1_Missense_Mutation_p.E340K|TUBB_ENST00000330914.3_Missense_Mutation_p.E340K|TUBB_ENST00000327892.8_Missense_Mutation_p.E412K			P07437	TBB5_HUMAN	tubulin, beta class I	412					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CACCGAGGCTGAGAGCAACAT	0.587000													10	72					0	0	1	0	0
GNPDA2	132789	broad.mit.edu	37	4	44709850	44709850	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:44709850G>T	ENST00000509756.1	-	6	794	c.688C>A	c.(688-690)Cag>Aag	p.Q230K	GNPDA2_ENST00000511187.1_5'UTR|GNPDA2_ENST00000507917.1_Missense_Mutation_p.Q196K|GNPDA2_ENST00000507534.1_Missense_Mutation_p.Q160K|GNPDA2_ENST00000295448.3_Missense_Mutation_p.Q230K			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	230					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						GGATGCTGCTGGAAAGCGGAA	0.393000													11	82					5.50884e-06	5.7555e-06	1	1	0
CA1	759	broad.mit.edu	37	8	86244727	86244727	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:86244727T>C	ENST00000523953.1	-	7	1551	c.505A>G	c.(505-507)Aaa>Gaa	p.K169E	CA1_ENST00000523022.1_Missense_Mutation_p.K169E|CA1_ENST00000256119.5_Missense_Mutation_p.K169E|CA1_ENST00000431316.1_Missense_Mutation_p.K169E|CA1_ENST00000432364.2_Missense_Mutation_p.K169E|CA1_ENST00000542576.1_Missense_Mutation_p.K169E|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I	169					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCTTGGTTTTAATTGCTTGG	0.333000													16	40					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16247183	16247183	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:16247183G>A	ENST00000259727.4	+	2	312	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	66					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TGGCAGCCGTGATGTCACAGG	0.512000													21	57					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69965776	69965776	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:69965776C>A	ENST00000359154.2	+	16	1766	c.1665C>A	c.(1663-1665)gaC>gaA	p.D555E	WWP2_ENST00000448661.1_Missense_Mutation_p.D555E|WWP2_ENST00000568684.1_Missense_Mutation_p.D116E|WWP2_ENST00000356003.2_Missense_Mutation_p.D555E|WWP2_ENST00000542271.1_Missense_Mutation_p.D439E|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	555	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGCCTGGACTATGGGGGCA	0.627000													54	74					2.47907e-22	2.73714e-22	1	1	0
WDR26	80232	broad.mit.edu	37	1	224606038	224606038	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:224606038G>A	ENST00000414423.2	-	6	1136	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	WDR26_ENST00000295024.6_Missense_Mutation_p.R168W|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	315						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TATAGGCACCGATCCCTTTGT	0.413000													23	40					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71376389	71376389	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:71376389G>A	ENST00000244230.2	+	10	2054	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	568					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AACAGCTGCTGAAAAAACAGC	0.333000													4	10					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167833249	167833249	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:167833249G>T	ENST00000265293.4	+	6	1139	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.E213*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	213					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAAACTGGATGAAGCTCAGGC	0.443000													25	83					5.35356e-11	5.83721e-11	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38976610	38976610	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:38976610C>G	ENST00000359357.3	+	87	12838	c.12584C>G	c.(12583-12585)tCt>tGt	p.S4195C	DNAH8_ENST00000441566.1_Missense_Mutation_p.S4159C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACACTGCTTCTGCTGTTCTT	0.393000													16	143					0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16060397	16060397	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:16060397C>T	ENST00000375799.3	+	20	3255	c.3028C>T	c.(3028-3030)Cgc>Tgc	p.R1010C	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.R990C	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	1010					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAGTCTCTGCCGCGGCCGAGC	0.657000													13	45					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40076590	40076590	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:40076590C>T	ENST00000373233.3	-	24	3882	c.3705G>A	c.(3703-3705)atG>atA	p.M1235I	CHD6_ENST00000309279.7_Missense_Mutation_p.M718I	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1235					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGTAGTACAGCATCCGGACTC	0.408000													13	154					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933714	62933714	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:62933714G>T	ENST00000306494.6	-	7	1086	c.1087C>A	c.(1087-1089)Cct>Act	p.P363T	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	363					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCCCAAAAAGGGATGGTACTT	0.453000													5	45					0.000602214	0.000616301	1	1	0
ATR	545	broad.mit.edu	37	3	142272169	142272169	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:142272169G>A	ENST00000350721.4	-	13	2826	c.2705C>T	c.(2704-2706)tCt>tTt	p.S902F	ATR_ENST00000383101.3_Missense_Mutation_p.S838F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	902					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCAGAGACAGATGCTGACTT	0.378000								Other conserved DNA damage response genes					19	58					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43628348	43628348	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:43628348G>C	ENST00000264663.5	+	7	1044	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	NNT_ENST00000512996.2_Missense_Mutation_p.E144Q|NNT_ENST00000344920.4_Missense_Mutation_p.E275Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	275					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGAGCCCTTGGAGGTGGACTT	0.433000													10	85					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3831263	3831263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:3831263G>A	ENST00000262367.5	-	7	2427	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q502*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	540					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGGGCTGCTGATCTGTTGTT	0.403000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						14	29					0	0	1	0	0
NRBF2	29982	broad.mit.edu	37	10	64913817	64913817	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:64913817G>C	ENST00000277746.6	+	4	884	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	NRBF2_ENST00000435510.2_Missense_Mutation_p.E225Q	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	235					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding			large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACCACATGCAGAAACTGCTAC	0.463000													5	43					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32929017	32929017	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr13:32929017G>C	ENST00000544455.1	+	14	7254	c.7027G>C	c.(7027-7029)Gag>Cag	p.E2343Q	BRCA2_ENST00000380152.3_Missense_Mutation_p.E2343Q	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2343					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGAACGTCAAGAGATACAGAA	0.348000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			23	54					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539705	27539705	+	RNA	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:27539705T>A	ENST00000574842.1	+	0	974																											GATCCTCACCTGGAGGTTGAA	0.473000													31	218					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197135931	197135931	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:197135931C>T	ENST00000260983.3	-	17	3503	c.3321G>A	c.(3319-3321)agG>agA	p.R1107R	HECW2_ENST00000409111.1_Silent_p.R751R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGAGTGATTCCTGGTAAGAT	0.333000													14	37					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681025	106681025	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:106681025T>A	ENST00000526355.2	-	5	1854	c.1386A>T	c.(1384-1386)caA>caT	p.Q462H	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q483H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q462H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TCAACCCATCTTGGGCCTTTG	0.453000													4	60					0	0	1	0	0
ANKRD23	200539	broad.mit.edu	37	2	97505353	97505353	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:97505353C>T	ENST00000318357.4	-	9	892	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	ANKRD23_ENST00000331001.2_Missense_Mutation_p.R242Q|ANKRD23_ENST00000418232.1_Missense_Mutation_p.R284Q|ANKRD23_ENST00000476975.1_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	284						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTGCCAGTCTCGAGCCAGCTG	0.751000													3	7					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140922487	140922487	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:140922487C>T	ENST00000389328.4	-	20	3176	c.3162G>A	c.(3160-3162)gaG>gaA	p.E1054E	TRAPPC9_ENST00000389327.3_Silent_p.E947E|TRAPPC9_ENST00000438773.2_Silent_p.E956E	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	956					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATTGCCCCTTCTCCCCAGGGG	0.532000													17	39					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64604510	64604510	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr14:64604510A>G	ENST00000357395.3	+	80	14951	c.3807A>G	c.(3805-3807)atA>atG	p.I1269M	SYNE2_ENST00000344113.4_Missense_Mutation_p.I4884M|SYNE2_ENST00000554584.1_Missense_Mutation_p.I4801M|SYNE2_ENST00000394768.2_Missense_Mutation_p.I1269M|SYNE2_ENST00000555002.1_Missense_Mutation_p.I1518M|SYNE2_ENST00000358025.3_Missense_Mutation_p.I4884M|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4884					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTAGCAAATAAAAAGAAACA	0.378000													9	49					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3493130	3493130	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:3493130G>A	ENST00000301744.4	-	2	259	c.24C>T	c.(22-24)ccC>ccT	p.P8P		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CCTGGGCCTCGGGCGTCGGGG	0.582000													3	19					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363363	22363363	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:22363363T>C	ENST00000397121.2	-	3	1473	c.1156A>G	c.(1156-1158)Att>Gtt	p.I386V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCAGCATGAATTGCCTTATGT	0.388000													12	107					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020987	5020987	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:5020987G>T	ENST00000321543.1	+	1	775	c.775G>T	c.(775-777)Ggg>Tgg	p.G259W		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G259R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAGTTATTGGGGTGTCAAT	0.473000													17	28					1.15088e-07	1.21694e-07	1	1	0
SLC25A47	283600	broad.mit.edu	37	14	100795895	100795895	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr14:100795895C>T	ENST00000361529.3	+	6	918	c.840C>T	c.(838-840)ctC>ctT	p.L280L	SLC25A47_ENST00000557052.1_Silent_p.L134L	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	280					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCTGGTACTCAATTGCTGCC	0.647000													32	101					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35422863	35422863	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:35422863C>G	ENST00000237536.4	-	14	3963	c.3622G>C	c.(3622-3624)Gag>Cag	p.E1208Q	SOGA1_ENST00000456801.2_Missense_Mutation_p.E811Q|SOGA1_ENST00000279034.6_Missense_Mutation_p.E970Q|SOGA1_ENST00000357779.3_Missense_Mutation_p.E970Q	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	970										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTGTCTTTCTCTGGATCCCCT	0.637000													4	54					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24970995	24970995	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:24970995G>C	ENST00000289968.6	-	9	790	c.721C>G	c.(721-723)Caa>Gaa	p.Q241E	ARHGAP17_ENST00000441763.2_Intron|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.Q241E|ARHGAP17_ENST00000575975.1_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	241	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACATTACCTTGATGGGCTCGC	0.507000													11	25					0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871575	20871575	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:20871575T>C	ENST00000324344.4	-	3	833	c.548A>G	c.(547-549)tAc>tGc	p.Y183C	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.Y183C|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3		DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TGTAAACCGGTAGAGATCCTT	0.483000													17	104					0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55918499	55918499	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:55918499T>C	ENST00000371263.3	+	13	1283	c.1174T>C	c.(1174-1176)Ttt>Ctt	p.F392L	SPO11_ENST00000345868.4_Missense_Mutation_p.F354L|SPO11_ENST00000371260.4_Missense_Mutation_p.F350L	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	392					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CAAATTAAAATTTGGAGGATG	0.323000								Editing and processing nucleases					10	109					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554723	140554723	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:140554723C>G	ENST00000231137.3	+	1	2481	c.2307C>G	c.(2305-2307)atC>atG	p.I769M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		769					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCAATTATCCCCAACCTGC	0.488000													12	168					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558373	140558373	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:140558373C>A	ENST00000239444.2	+	1	1003	c.758C>A	c.(757-759)tCt>tAt	p.S253Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		253	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCAGATCTCTGAGGACAGT	0.478000													60	306					1.64573e-32	1.84028e-32	1	1	0
OR4C12	283093	broad.mit.edu	37	11	50003583	50003583	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:50003583A>T	ENST00000335238.4	-	1	488	c.455T>A	c.(454-456)cTt>cAt	p.L152H		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AGTTGCATGAAGAAATCCTCC	0.483000													42	101					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057820	53057820	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:53057820A>G	ENST00000359798.4	+	5	1831	c.1651A>G	c.(1651-1653)Aat>Gat	p.N551D		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N551D(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTTCATGCGTAATTCAGTCCT	0.398000													29	211					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51415428	51415428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:51415428G>T	ENST00000522124.1	+	9	1115	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	SNTG1_ENST00000276467.5_Nonsense_Mutation_p.E152*|SNTG1_ENST00000517473.1_Nonsense_Mutation_p.E152*|SNTG1_ENST00000518864.1_Nonsense_Mutation_p.E152*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	152					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCCATTGAATGAAGATTGTGC	0.318000													6	36					8.12818e-05	8.39193e-05	1	1	0
SLC12A8	84561	broad.mit.edu	37	3	124837679	124837679	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:124837679G>A	ENST00000423114.2	-	8	932	c.933C>T	c.(931-933)ttC>ttT	p.F311F	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Silent_p.F282F|SLC12A8_ENST00000430155.2_Silent_p.F83F|SLC12A8_ENST00000393469.4_Silent_p.F282F|SLC12A8_ENST00000314584.7_Silent_p.F35F			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	282					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GGAGGAAGACGAAGATGATGT	0.562000													4	42					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770128	38770128	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:38770128C>G	ENST00000449082.2	-	15	2544	c.2545G>C	c.(2545-2547)Gag>Cag	p.E849Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	849					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAATCCACTCTCCACAGAGG	0.517000													10	39					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50216760	50216760	+	Silent	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr22:50216760C>A	ENST00000216267.8	-	1	1692	c.1206G>T	c.(1204-1206)ggG>ggT	p.G402G	BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404760.1_Silent_p.G402G|BRD1_ENST00000542442.1_Silent_p.G41G|BRD1_ENST00000457780.2_Silent_p.G402G|BRD1_ENST00000404034.1_Silent_p.G402G|BRD1_ENST00000342989.5_5'UTR	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	402					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTTCGACATCCCCGTAAATAT	0.517000													68	140					1.52378e-38	1.70937e-38	1	1	0
TTN	7273	broad.mit.edu	37	2	179553471	179553471	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:179553471C>T	ENST00000589042.1	-	126	32354	c.32130G>A	c.(32128-32130)aaG>aaA	p.K10710K	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.K10393K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.K9466K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10393	Glu-rich.|Pro-rich.						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)			CAACAAATCTCTTTTCTTCTA	0.348000													20	36					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38694857	38694857	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr22:38694857G>A	ENST00000396832.1	-	7	1079	c.819C>T	c.(817-819)ttC>ttT	p.F273F	CSNK1E_ENST00000413574.2_Silent_p.F273F|CSNK1E_ENST00000403904.1_Silent_p.F273F|CSNK1E_ENST00000405675.3_Silent_p.F273F|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Silent_p.F273F|CSNK1E_ENST00000359867.3_Silent_p.F273F	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	273	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					AGAGGTTGCGGAAGAGCTGAC	0.562000											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	86					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173678	51173678	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:51173678C>G	ENST00000440970.1	-	2	2595	c.2164G>C	c.(2164-2166)Gat>Cat	p.D722H	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D819H	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	819					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTAGGTCATCAAAATTTTTC	0.502000													92	117					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41575697	41575697	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:41575697G>A	ENST00000396942.1	-	11	1216	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	ANK1_ENST00000352337.4_Missense_Mutation_p.A378V|ANK1_ENST00000289734.7_Missense_Mutation_p.A378V|ANK1_ENST00000396945.1_Missense_Mutation_p.A378V|ANK1_ENST00000347528.4_Missense_Mutation_p.A378V|ANK1_ENST00000265709.8_Missense_Mutation_p.A411V|ANK1_ENST00000379758.2_Missense_Mutation_p.A378V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	378	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTTTTGCAGGCGATGTGTAA	0.592000													7	21					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31531097	31531097	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr13:31531097G>A	ENST00000380473.3	+	4	413	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	134																	TTCAATGAAAGAAGTTAACAA	0.393000													33	102					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10574545	10574545	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:10574545A>G	ENST00000380702.2	+	15	1754	c.1754A>G	c.(1753-1755)gAc>gGc	p.D585G	PDE4A_ENST00000344979.3_Missense_Mutation_p.D368G|PDE4A_ENST00000293683.5_Missense_Mutation_p.D581G|PDE4A_ENST00000352831.6_Missense_Mutation_p.D607G|PDE4A_ENST00000592685.1_Missense_Mutation_p.D585G|PDE4A_ENST00000440014.2_Missense_Mutation_p.D546G			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	607	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGTGGACAGACCGCATCATG	0.632000													7	57					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206440	71206440	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:71206440C>A	ENST00000272421.6	+	2	650	c.384C>A	c.(382-384)aaC>aaA	p.N128K	ANKRD53_ENST00000457410.1_Missense_Mutation_p.N94K|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Missense_Mutation_p.N94K|ANKRD53_ENST00000360589.3_Missense_Mutation_p.N128K	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	128										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TCTGTCTGAACCAGAGCCTCA	0.607000													9	40					1.67942e-08	1.79754e-08	1	1	0
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	G	rs67389650		TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:7577127C>G	ENST00000420246.2	-	8	943	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	TP53_ENST00000445888.2_Missense_Mutation_p.E271Q|TP53_ENST00000269305.4_Missense_Mutation_p.E271Q|TP53_ENST00000455263.2_Missense_Mutation_p.E271Q|TP53_ENST00000359597.4_Missense_Mutation_p.E271Q|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)		ACACGCACCTCAAAGCTGTTC	0.537000		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)			9	19					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10620395	10620395	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:10620395G>C	ENST00000254958.5	-	26	3923	c.3408C>G	c.(3406-3408)atC>atG	p.I1136M	JAG1_ENST00000423891.2_Missense_Mutation_p.I977M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1136					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CATAATCCTTGATGGGGACCG	0.483000									Alagille Syndrome				12	104					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231964	125231964	+	RNA	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:125231964C>A	ENST00000439075.1	-	0	2781					NR_026876.1																						TACAGAATACCTAAGAATAAT	0.264000													3	12					0.115264	0.116261	1	1	0
DZIP1	22873	broad.mit.edu	37	13	96293710	96293710	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr13:96293710C>T	ENST00000347108.3	-	3	868	c.436G>A	c.(436-438)Gag>Aag	p.E146K	DZIP1_ENST00000361156.3_Missense_Mutation_p.E146K|DZIP1_ENST00000361396.2_Missense_Mutation_p.E146K|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000376829.2_Missense_Mutation_p.E146K			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	146					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGCCGCTCCTCCAGGGTGTGC	0.617000													12	39					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12334281	12334281	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr12:12334281C>T	ENST00000261349.4	-	6	1145	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	LRP6_ENST00000543091.1_Missense_Mutation_p.E357K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	357	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CGGATGTCTTCTAACTGCAGA	0.433000													16	107					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102510508	102510508	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:102510508G>A	ENST00000370296.2	+	3	820	c.270G>A	c.(268-270)gtG>gtA	p.V90V	PAX2_ENST00000355243.3_Silent_p.V90V|PAX2_ENST00000556085.1_Silent_p.V89V|PAX2_ENST00000428433.1_Silent_p.V90V|PAX2_ENST00000361791.3_Silent_p.V90V|PAX2_ENST00000553492.1_Intron			Q02962	PAX2_HUMAN	paired box 2	90	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCCCAAAGTGGCGACGCCCA	0.612000													26	73					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572647	38572647	+	Missense_Mutation	SNP	G	G	C	rs138476311	byFrequency	TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:38572647G>C	ENST00000222345.6	+	3	951	c.442G>C	c.(442-444)Gac>Cac	p.D148H		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	148					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.D148H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGGTCCAAAGACGTGGAGTT	0.657000													161	72					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41773771	41773771	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:41773771C>G	ENST00000394253.3	-	3	1280	c.951G>C	c.(949-951)ttG>ttC	p.L317F	USP49_ENST00000373009.3_Missense_Mutation_p.L317F|USP49_ENST00000373010.1_Missense_Mutation_p.L317F|USP49_ENST00000297229.2_Missense_Mutation_p.L317F|USP49_ENST00000373006.1_Missense_Mutation_p.L317F			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	317					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTCATTTCTCAAGGACAGCT	0.577000													17	54					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14797312	14797312	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:14797312T>C	ENST00000403951.2	-	3	534	c.115A>G	c.(115-117)Aat>Gat	p.N39D	DGKB_ENST00000406247.3_Missense_Mutation_p.N39D|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.N39D|DGKB_ENST00000399322.3_Missense_Mutation_p.N39D|DGKB_ENST00000258767.5_Missense_Mutation_p.N39D|DGKB_ENST00000402815.1_Missense_Mutation_p.N39D|DGKB_ENST00000407950.1_Missense_Mutation_p.N39D			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	39					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AGCACACCATTACCATGGAAT	0.303000													9	58					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56466252	56466252	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:56466252C>G	ENST00000370754.5	-	44	11436	c.11437G>C	c.(11437-11439)Gat>Cat	p.D3813H	DST_ENST00000361203.3_Missense_Mutation_p.D3633H|DST_ENST00000446842.2_Missense_Mutation_p.D3309H|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.D3633H|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D3635H|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3633					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTGATCATCAAGATCTTGT	0.393000													4	18					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26204298	26204298	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:26204298C>G	ENST00000264712.3	-	1	1068	c.489G>C	c.(487-489)aaG>aaC	p.K163N	KIF3C_ENST00000405914.1_Missense_Mutation_p.K163N	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	163	Kinesin-motor.			K -> R (in Ref. 1; AAC05302).	blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCTAGCCTCTTGCCCGGCT	0.542000													25	79					0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78085519	78085519	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:78085519G>A	ENST00000316355.5	+	7	1154	c.798G>A	c.(796-798)aaG>aaA	p.K266K	CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Silent_p.K266K|CCNG2_ENST00000509972.1_Silent_p.K266K|CCNG2_ENST00000354403.5_Silent_p.K266K|CCNG2_ENST00000395640.1_Silent_p.K266K	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	266					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CAGATCTTAAGAAGTTGGTTT	0.448000													8	85					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29075301	29075301	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:29075301C>T	ENST00000306108.5	-	4	1081	c.1058G>A	c.(1057-1059)gGt>gAt	p.G353D	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	353							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						ACATACACCACCATGCTTAAG	0.338000													26	90					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122819	18122819	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:18122819C>G	ENST00000340650.3	-	1	32	c.19G>C	c.(19-21)Gag>Cag	p.E7Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	7					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGCCCGCTCTCCGAGGCTTCG	0.697000													9	28					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30692054	30692054	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:30692054G>A	ENST00000396389.1	+	4	1754	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	TUBB_ENST00000435534.1_Silent_p.E204E|TUBB_ENST00000396384.1_Silent_p.E333E|TUBB_ENST00000330914.3_Silent_p.E333E|TUBB_ENST00000327892.8_Silent_p.E405E			P07437	TBB5_HUMAN	tubulin, beta class I	405					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GCATGGACGAGATGGAGTTCA	0.582000													16	81					0	0	1	0	0
TWF2	11344	broad.mit.edu	37	3	52265976	52265976	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:52265976G>A	ENST00000305533.5	-	3	509	c.266C>T	c.(265-267)tCg>tTg	p.S89L	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.S89L	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTATCAGGCGACCAGGCGAG	0.652000											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	80					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38286831	38286831	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr14:38286831C>T	ENST00000553443.1	+	26	4738	c.4738C>T	c.(4738-4740)Cac>Tac	p.H1580Y	TTC6_ENST00000476979.1_Missense_Mutation_p.H214Y|TTC6_ENST00000267368.7_Missense_Mutation_p.H214Y|TTC6_ENST00000382320.3_Missense_Mutation_p.H294Y					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GAGCCTTTGTCACGCCACTGC	0.393000													26	71					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755304	146755304	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:146755304C>T	ENST00000361719.2	+	9	3427	c.2957C>T	c.(2956-2958)gCg>gTg	p.A986V	GRM1_ENST00000282753.1_Missense_Mutation_p.A986V|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	986					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAAGCGCGGCGACCACTCCG	0.667000													18	106					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93264092	93264092	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr14:93264092C>T	ENST00000163416.2	+	2	566	c.310C>T	c.(310-312)Cct>Tct	p.P104S	GOLGA5_ENST00000355976.2_Missense_Mutation_p.P104S	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	104					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGCATCTGTTCCTAGGCCTTC	0.448000			T	RET	papillary thyroid								15	53					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523021	43523021	+	Missense_Mutation	SNP	G	G	C	rs146008376	byFrequency	TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:43523021G>C	ENST00000401740.1	-	3	713	c.610C>G	c.(610-612)Cta>Gta	p.L204V	PSG11_ENST00000403486.1_Missense_Mutation_p.L82V|PSG11_ENST00000320078.7_Missense_Mutation_p.L204V|PSG11_ENST00000306322.7_Missense_Mutation_p.L82V|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	204	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACACCAAATAGAAAGAGGGTC	0.517000													84	378					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116381170	116381170	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:116381170G>C	ENST00000606080.1	-	1	751	c.305C>G	c.(304-306)tCt>tGt	p.S102C		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	102	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		CACGTAGTTAGAAGGAATATA	0.468000													21	164					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103577750	103577750	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:103577750C>A	ENST00000361464.3	-	1	425	c.30G>T	c.(28-30)ttG>ttT	p.L10F	MGEA5_ENST00000370094.3_Missense_Mutation_p.L10F|MGEA5_ENST00000439817.1_Missense_Mutation_p.L10F|MGEA5_ENST00000419011.2_Missense_Mutation_p.L10F|MGEA5_ENST00000357797.5_Missense_Mutation_p.L10F	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	10					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CCCGCTCCTCCAACGTCGCTT	0.716000													7	16					7.48243e-07	7.86441e-07	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13751263	13751263	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:13751263G>A	ENST00000265104.4	-	65	11239	c.11135C>T	c.(11134-11136)tCc>tTc	p.S3712F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3712	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCAATGATGGAGGTACGGGC	0.493000									Kartagener syndrome				20	56					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206452	71206452	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:71206452G>A	ENST00000272421.6	+	2	662	c.396G>A	c.(394-396)agG>agA	p.R132R	ANKRD53_ENST00000457410.1_Silent_p.R98R|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Silent_p.R98R|ANKRD53_ENST00000360589.3_Silent_p.R132R	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	132										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGCCTCAGGGAAATCCCCA	0.597000													7	37					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136337152	136337152	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:136337152G>A	ENST00000371899.4	-	10	1592	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	SLC2A6_ENST00000371897.4_Silent_p.F443F|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	505						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CCTAGCGCAAGAAGGACCTTC	0.637000													8	48					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661890	227661890	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:227661890C>T	ENST00000305123.5	-	1	2585	c.1565G>A	c.(1564-1566)cGa>cAa	p.R522Q		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGTTCTCTTTCGGAACCGATT	0.582000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	50					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58238779	58238779	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:58238779C>T	ENST00000317398.6	-	1	213	c.118G>A	c.(118-120)Gag>Aag	p.E40K	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.E40K|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCGTTAGCTCCGCCATAGGA	0.682000													15	16					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14599365	14599365	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chrX:14599365G>A	ENST00000218075.4	+	4	861	c.331G>A	c.(331-333)Gag>Aag	p.E111K	GLRA2_ENST00000355020.4_Missense_Mutation_p.E111K|GLRA2_ENST00000443437.2_Missense_Mutation_p.E22K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	111					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GGCGTACAGTGAGTACCCAGA	0.478000													38	43					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14880705	14880705	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:14880705C>G	ENST00000282096.4	+	13	2990	c.2637C>G	c.(2635-2637)ttC>ttG	p.F879L	PDE3B_ENST00000455098.2_Missense_Mutation_p.F828L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	879	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTGGAATTCAAGCGCTTTC	0.378000													38	52					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088863	94088863	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr14:94088863G>C	ENST00000553484.1	+	31	5504	c.5350G>C	c.(5350-5352)Gat>Cat	p.D1784H	UNC79_ENST00000555664.1_Missense_Mutation_p.D1762H|UNC79_ENST00000256339.4_Missense_Mutation_p.D1585H|UNC79_ENST00000393151.2_Missense_Mutation_p.D1762H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1762						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATGTCGCTGGATGATCACCC	0.582000													22	47					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2257345	2257345	+	Splice_Site	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:2257345C>T	ENST00000569417.1	+	6	926	c.572C>T	c.(571-573)aCc>aTc	p.T191I	MLST8_ENST00000301725.7_Splice_Site_p.T210I|MLST8_ENST00000565250.1_Splice_Site_p.T191I|MLST8_ENST00000382450.4_Splice_Site_p.T190I|MLST8_ENST00000397124.1_Splice_Site_p.T191I|MLST8_ENST00000301724.10_Splice_Site_p.T191I|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Splice_Site_p.T191I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	191					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GTCAATAGCACCGTGAGTCCT	0.622000													27	55					0	0	1	0	0
KCTD20	222658	broad.mit.edu	37	6	36447426	36447426	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:36447426G>C	ENST00000373731.2	+	5	987	c.596G>C	c.(595-597)aGa>aCa	p.R199T	KCTD20_ENST00000536244.1_Missense_Mutation_p.R54T|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	199						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CCAGATCTTAGAGATACTTGT	0.393000													23	64					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30691419	30691419	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:30691419G>C	ENST00000396389.1	+	4	1119	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396384.1_Missense_Mutation_p.E122Q|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000330914.3_Missense_Mutation_p.E122Q|TUBB_ENST00000327892.8_Missense_Mutation_p.E194Q			P07437	TBB5_HUMAN	tubulin, beta class I	194					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCAGTTGGTAGAGAATACTGA	0.512000													16	86					0	0	1	0	0
PCYT2	5833	broad.mit.edu	37	17	79864762	79864762	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:79864762G>A	ENST00000538936.2	-	7	658	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	PCYT2_ENST00000570391.1_Missense_Mutation_p.R152W|PCYT2_ENST00000571105.1_Missense_Mutation_p.R184W|PCYT2_ENST00000538721.2_Missense_Mutation_p.R202W|PCYT2_ENST00000331285.3_Missense_Mutation_p.R106W|PCYT2_ENST00000570388.1_Missense_Mutation_p.R106W	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	184	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGGGGTTCCGCCCACCAGGG	0.622000													4	28					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115612502	115612502	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:115612502G>A	ENST00000361384.2	-	1	1357	c.440C>T	c.(439-441)tCt>tTt	p.S147F	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S147F	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	147	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GCGTGGTGGAGAATCCAAACA	0.393000								Other identified genes with known or suspected DNA repair function					12	43					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1272370	1272370	+	Silent	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:1272370G>T	ENST00000444172.2	+	5	797	c.663G>T	c.(661-663)gtG>gtT	p.V221V	CIRBP_ENST00000589710.1_Silent_p.V274V|CIRBP_ENST00000587323.1_Silent_p.V274V|CIRBP_ENST00000588030.1_Intron|CIRBP_ENST00000588230.1_Silent_p.V274V|CIRBP_ENST00000320936.5_Intron|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000413636.2_Silent_p.V240V|CIRBP_ENST00000585630.1_Intron|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000586472.1_Intron|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000587896.1_Silent_p.V274V|CIRBP_ENST00000589235.1_Intron|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000589686.1_Intron			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	0					mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCtggggtgaagctgcctc	0.617000													32	92					3.3946e-10	3.67836e-10	1	1	0
DLG2	1740	broad.mit.edu	37	11	83195255	83195255	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:83195255C>T	ENST00000398309.2	-	17	2365	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.R671H|DLG2_ENST00000376104.2_Missense_Mutation_p.R737H|DLG2_ENST00000543673.1_Missense_Mutation_p.R737H|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.R599H|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000532653.1_Intron	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	632						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCTCTTTTTACGCTTGTCATT	0.408000													7	86					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080593	152080593	+	Silent	SNP	G	G	A	rs71585886		TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:152080593G>A	ENST00000368804.1	-	2	5099	c.5100C>T	c.(5098-5100)ctC>ctT	p.L1700L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1700	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGACGGCGGAGCTGCTGTT	0.572000													22	193					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692197	106692197	+	RNA	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr14:106692197C>A	ENST00000390607.2	-	0	6																											GCTCCTCTCTCAGAGCTGCAG	0.537000													11	50					4.68919e-08	5.00371e-08	1	1	0
ROBO1	6091	broad.mit.edu	37	3	78719328	78719328	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:78719328C>T	ENST00000436010.2	-	9	2346	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	ROBO1_ENST00000495273.1_Missense_Mutation_p.R453K|ROBO1_ENST00000464233.1_Missense_Mutation_p.R489K|ROBO1_ENST00000467549.1_Missense_Mutation_p.R453K			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	489					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)		TCCATCCTTTCTCCACAGAAT	0.507000													6	23					0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134212881	134212881	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:134212881G>A	ENST00000367882.4	+	2	741	c.481G>A	c.(481-483)Gag>Aag	p.E161K	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E161K	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	161					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CGGGAAACCCGAGAGTGACCT	0.657000													4	26					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768643	117768643	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr12:117768643C>T	ENST00000317775.6	-	2	917	c.232G>A	c.(232-234)Gac>Aac	p.D78N	NOS1_ENST00000344089.3_Missense_Mutation_p.D78N|NOS1_ENST00000338101.4_Missense_Mutation_p.D78N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	78	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGGCGCTGTCATAGCTCAGG	0.617000													11	55					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156759082	156759082	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:156759082G>C	ENST00000275820.3	+	8	2167	c.2152G>C	c.(2152-2154)Gaa>Caa	p.E718Q		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	718	MI.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGTGAATATGAAAGGAGATT	0.453000													21	115					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46808477	46808477	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr18:46808477G>C	ENST00000269445.6	-	10	1472	c.1015C>G	c.(1015-1017)Ctt>Gtt	p.L339V	DYM_ENST00000442713.2_Missense_Mutation_p.L149V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	339						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGTTCACAAAGAGCTGTGTAC	0.388000													23	55					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228486988	228486988	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:228486988G>A	ENST00000570156.2	+	50	13313	c.13239G>A	c.(13237-13239)ctG>ctA	p.L4413L	OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.L1103L|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3456	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGAGGGTCTGAGGAATGAAG	0.557000													18	39					0	0	1	0	0
SAT2	112483	broad.mit.edu	37	17	7530270	7530270	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:7530270C>T	ENST00000269298.5	-	4	514	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000575314.1_Intron|SAT2_ENST00000573566.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572182.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	99	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	CCCCGATATTCCGGCATCACA	0.552000													27	33					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325766	158325766	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:158325766G>A	ENST00000444681.2	+	3	771	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	CD1E_ENST00000368164.3_Missense_Mutation_p.V70I|CD1E_ENST00000452291.2_Missense_Mutation_p.V70I|CD1E_ENST00000368160.3_Missense_Mutation_p.V259I|CD1E_ENST00000368165.3_Missense_Mutation_p.V169I|CD1E_ENST00000368167.3_Missense_Mutation_p.V259I|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.V169I|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.V257I|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.V259I|CD1E_ENST00000368166.3_Missense_Mutation_p.V70I	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	259					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCGAGGGGACGTCCTGCCTAA	0.612000													56	73					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112462021	112462021	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:112462021C>G	ENST00000297145.4	-	5	1161	c.996G>C	c.(994-996)agG>agC	p.R332S		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	332										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CTGGGTAGTTCCTACTAACCA	0.368000													11	64					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259598	89259598	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:89259598G>T	ENST00000336596.2	+	3	967	c.742G>T	c.(742-744)Ggc>Tgc	p.G248C	EPHA3_ENST00000494014.1_Missense_Mutation_p.G248C|EPHA3_ENST00000452448.2_Missense_Mutation_p.G248C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	248	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGTACAGAAGGCGAATGGCT	0.478000										TSP Lung(6;0.00050)			45	180					6.31075e-24	6.98976e-24	1	1	0
LAG3	3902	broad.mit.edu	37	12	6882397	6882397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr12:6882397G>A	ENST00000203629.2	+	2	431	c.98G>A	c.(97-99)tGg>tAg	p.W33*	LAG3_ENST00000441671.2_Nonsense_Mutation_p.W33*	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	33						integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCGGTGGTGTGGGCCCAGGAG	0.657000													5	69					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50658918	50658918	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chrX:50658918T>C	ENST00000252677.3	+	2	490	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	164					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AACCAACCACTTCCCTTCCTC	0.473000													5	13					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262877	1262877	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr11:1262877C>T	ENST00000447027.1	+	31	4834	c.4776C>T	c.(4774-4776)taC>taT	p.Y1592Y	MUC5B_ENST00000529681.1_Silent_p.Y1589Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1589	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGATGTGCTACAACTACAGGA	0.632000													5	12					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21840067	21840067	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr14:21840067C>G	ENST00000216297.2	-	3	634	c.296G>C	c.(295-297)gGa>gCa	p.G99A		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	99					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGCAGGGGCTCCATTAGCATT	0.393000													28	62					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30691799	30691799	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:30691799G>A	ENST00000396389.1	+	4	1499	c.906G>A	c.(904-906)cgG>cgA	p.R302R	TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396384.1_Silent_p.R248R|TUBB_ENST00000330914.3_Silent_p.R248R|TUBB_ENST00000327892.8_Silent_p.R320R			P07437	TBB5_HUMAN	tubulin, beta class I	320					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCCGTGGTCGGATGTCCATGA	0.557000													29	90					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164712183	164712183	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:164712183G>A	ENST00000264382.3	-	41	4765	c.4703C>T	c.(4702-4704)cCc>cTc	p.P1568L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1568	Sucrase.				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	p.P1568H(1)		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)	CCAGGAAGCGGGATCTTGTCT	0.299000										HNSCC(35;0.089)			28	184					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315365	154315365	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:154315365G>A	ENST00000368489.3	+	15	1480	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	480					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGATCGGGGACCCCCACAC	0.547000													24	72					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57829646	57829646	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:57829646C>T	ENST00000264230.4	-	7	3304	c.2067G>A	c.(2065-2067)gtG>gtA	p.V689V		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	689							GTP binding										TCTTCTTCCTCACGTTGTACA	0.383000													26	121					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120765940	120765940	+	Silent	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:120765940G>T	ENST00000310396.5	+	9	1595	c.1128G>T	c.(1126-1128)gtG>gtT	p.V376V	CPED1_ENST00000423795.1_Silent_p.V156V|CPED1_ENST00000450913.2_Silent_p.V376V	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ACCCTGTAGTGCTCCAGGTCA	0.388000													4	43					1.23904e-05	1.29067e-05	1	1	0
HBS1L	10767	broad.mit.edu	37	6	135299850	135299850	+	Silent	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:135299850A>G	ENST00000367837.5	-	15	1970	c.1764T>C	c.(1762-1764)ttT>ttC	p.F588F	HBS1L_ENST00000415177.2_Silent_p.F523F|HBS1L_ENST00000367826.2_Silent_p.F546F|HBS1L_ENST00000527578.1_Silent_p.F424F|HBS1L_ENST00000367824.4_Silent_p.F424F|HBS1L_ENST00000445176.2_Silent_p.F312F	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	588					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTTCAATATTAAAGATGAGGA	0.338000													5	75					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211070432	211070432	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:211070432C>G	ENST00000233710.3	-	6	919	c.692G>C	c.(691-693)aGc>aCc	p.S231T	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	231					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CAGAAAAAGGCTAATACCATG	0.408000													19	47					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089819	9089819	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:9089819C>T	ENST00000397910.4	-	1	2199	c.1996G>A	c.(1996-1998)Gga>Aga	p.G666R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	666	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGTCCCTCCTGGAGGACTT	0.532000													31	89					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6873385	6873385	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:6873385C>G	ENST00000307659.5	+	8	4341	c.3886C>G	c.(3886-3888)Ctt>Gtt	p.L1296V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.L1296V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1296							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GTACTCTCCTCTTTTTCCTGC	0.343000													14	63					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032027	197032027	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:197032027C>T	ENST00000367412.1	-	2	268	c.225G>A	c.(223-225)acG>acA	p.T75T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	75	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTGTTGTACACGTGGTTTGCT	0.373000													23	107					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30691514	30691514	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:30691514G>C	ENST00000396389.1	+	4	1214	c.621G>C	c.(619-621)ctG>ctC	p.L207L	TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396384.1_Silent_p.L153L|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000330914.3_Silent_p.L153L|TUBB_ENST00000327892.8_Silent_p.L225L			P07437	TBB5_HUMAN	tubulin, beta class I	225					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	ACGGGGATCTGAACCACCTTG	0.537000													27	92					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186250	101186250	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:101186250T>C	ENST00000294728.2	+	2	384	c.283T>C	c.(283-285)Tgc>Cgc	p.C95R	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.C95R|VCAM1_ENST00000347652.2_Missense_Mutation_p.C95R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	95	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTCTTACCTGTGCACAGCAAC	0.413000													7	61					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115612718	115612718	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:115612718G>A	ENST00000361384.2	-	1	1141	c.224C>T	c.(223-225)tCt>tTt	p.S75F	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S75F	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	75	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGAAGCAACAGAAGTCTGACA	0.433000								Other identified genes with known or suspected DNA repair function					94	207					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79733788	79733788	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:79733788C>G	ENST00000338008.5	+	3	1464	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F428L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F428L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	428					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GGGAACCATTCAAAGAGAATG	0.358000													4	34					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134884875	134884875	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:134884875G>A	ENST00000398015.3	+	8	2021	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	EPHB1_ENST00000493838.1_Missense_Mutation_p.V112M	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	551						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCGGGGTCGTGTTCGTTGT	0.572000													10	71					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30692058	30692058	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:30692058G>A	ENST00000396389.1	+	4	1758	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	TUBB_ENST00000435534.1_Missense_Mutation_p.E206K|TUBB_ENST00000396384.1_Missense_Mutation_p.E335K|TUBB_ENST00000330914.3_Missense_Mutation_p.E335K|TUBB_ENST00000327892.8_Missense_Mutation_p.E407K			P07437	TBB5_HUMAN	tubulin, beta class I	407					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GGACGAGATGGAGTTCACCGA	0.582000													16	77					0	0	1	0	0
SNHG16	100507246	broad.mit.edu	37	17	74554942	74554942	+	RNA	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:74554942G>A	ENST00000363315.1	+	0	70																											CTGACTTGCTGAGGCTCAGCT	0.393000													19	62					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1272373	1272373	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:1272373G>T	ENST00000444172.2	+	5	800	c.666G>T	c.(664-666)aaG>aaT	p.K222N	CIRBP_ENST00000589710.1_Missense_Mutation_p.K275N|CIRBP_ENST00000587323.1_Missense_Mutation_p.K275N|CIRBP_ENST00000588030.1_Intron|CIRBP_ENST00000588230.1_Missense_Mutation_p.K275N|CIRBP_ENST00000320936.5_Intron|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000413636.2_Missense_Mutation_p.K241N|CIRBP_ENST00000585630.1_Intron|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000586472.1_Intron|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000587896.1_Missense_Mutation_p.K275N|CIRBP_ENST00000589235.1_Intron|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000589686.1_Intron			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	0					mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		Ctggggtgaagctgcctcttg	0.617000													34	95					4.90274e-10	5.29617e-10	1	1	0
PARP4	143	broad.mit.edu	37	13	25000653	25000653	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr13:25000653C>T	ENST00000381989.3	-	33	5035	c.4930G>A	c.(4930-4932)Gga>Aga	p.G1644R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1644	Interaction with the major vault protein.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AACACTATTCCCTCTTTTTCC	0.348000													26	60					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32149350	32149350	+	Splice_Site	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:32149350C>T	ENST00000373672.3	-	34	2854		c.e34-1		COL16A1_ENST00000271069.6_Splice_Site|COL16A1_ENST00000373668.3_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGCTCTCCCTGAAGAGGCA	0.622000													17	42					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076938	108076938	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:108076938C>A	ENST00000357759.5	+	6	1347	c.933C>A	c.(931-933)gaC>gaA	p.D311E	HHLA2_ENST00000467562.1_Missense_Mutation_p.D247E|HHLA2_ENST00000467761.1_Missense_Mutation_p.D311E|HHLA2_ENST00000489514.2_Missense_Mutation_p.D311E|HHLA2_ENST00000491820.1_Missense_Mutation_p.D311E	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	311	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATCTTTCAGACAGTGGGGAAT	0.358000													18	73					3.52763e-06	3.69662e-06	1	1	0
SLCO4A1	28231	broad.mit.edu	37	20	61292440	61292440	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:61292440G>C	ENST00000217159.1	+	5	1239	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.R345T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	345					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GCGGTCATGAGAGCGGCGGAA	0.647000													13	64					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36934781	36934781	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:36934781C>T	ENST00000373103.1	-	12	2099	c.1552G>A	c.(1552-1554)Gtc>Atc	p.V518I	CSF3R_ENST00000440588.2_Missense_Mutation_p.V518I|CSF3R_ENST00000373104.1_Missense_Mutation_p.V518I|CSF3R_ENST00000373106.1_Missense_Mutation_p.V518I|CSF3R_ENST00000331941.5_Missense_Mutation_p.V518I|CSF3R_ENST00000338937.5_Missense_Mutation_p.V518I|CSF3R_ENST00000418048.2_Missense_Mutation_p.V518I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.V518I	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	518	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TAGGCATAGACATGCTGGGAG	0.522000													7	23					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79095904	79095904	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:79095904G>A	ENST00000326724.4	-	11	1856	c.1832C>T	c.(1831-1833)tCg>tTg	p.S611L	AATK_ENST00000417379.1_Missense_Mutation_p.S508L	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	611						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGCCGAGGGCGAGGGAGAGCG	0.736000													3	10					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28606708	28606708	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:28606708G>C	ENST00000533150.1	-	2	1553	c.437C>G	c.(436-438)tCt>tGt	p.S146C	SULT1A2_ENST00000335715.4_Missense_Mutation_p.L118V|SULT1A2_ENST00000395630.1_Missense_Mutation_p.L118V			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	168					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGATCCAACAGAGTCTGGGGG	0.567000													21	65					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19154811	19154811	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:19154811G>C	ENST00000535612.1	+	4	639	c.207G>C	c.(205-207)ctG>ctC	p.L69L	ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000269932.6_Silent_p.L44L|ARMC6_ENST00000392336.3_Silent_p.L69L|ARMC6_ENST00000392335.2_Silent_p.L44L	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	69							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGGTTGATCTGAGCAACATTG	0.567000													9	39					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193896	139193896	+	Silent	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:139193896C>G	ENST00000274710.3	+	4	1168	c.963C>G	c.(961-963)ctC>ctG	p.L321L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	321	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCCGTCTCTACCACCTCG	0.652000													7	41					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197455	8197455	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr12:8197455A>G	ENST00000162391.3	+	6	1863	c.718A>G	c.(718-720)Aaa>Gaa	p.K240E	FOXJ2_ENST00000428177.2_Missense_Mutation_p.K240E	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	240					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCATGACTTTAAATTCTCCTA	0.537000													23	114					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72977755	72977755	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:72977755T>A	ENST00000262209.4	-	4	690	c.483A>T	c.(481-483)gaA>gaT	p.E161D		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	161						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CATTTTCTCCTTCCAAATTAA	0.353000													15	32					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30690332	30690332	+	Translation_Start_Site	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:30690332G>A	ENST00000396384.1	+	0	535				TUBB_ENST00000396389.1_Missense_Mutation_p.D8N|TUBB_ENST00000435534.1_Missense_Mutation_p.D26N|TUBB_ENST00000330914.3_De_novo_Start_OutOfFrame|TUBB_ENST00000327892.8_Missense_Mutation_p.D26N			P07437	TBB5_HUMAN	tubulin, beta class I						cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GGTGATCAGTGATGAACATGG	0.542000													10	37					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16742788	16742788	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:16742788G>C	ENST00000381323.3	-	7	669	c.449C>G	c.(448-450)gCt>gGt	p.A150G	FAM49A_ENST00000355549.2_Missense_Mutation_p.A150G|FAM49A_ENST00000406434.1_Missense_Mutation_p.A150G	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	150						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTCTGAATAGCCGGGTTCCT	0.478000													8	26					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47852786	47852786	+	Missense_Mutation	SNP	C	C	T	rs149025049		TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:47852786C>T	ENST00000289672.2	-	49	7329	c.7279G>A	c.(7279-7281)Gtg>Atg	p.V2427M	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2427					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCAGGGTCACGTTTTGGTTC	0.557000													16	86					0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469700	21469700	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr14:21469700G>A	ENST00000298681.4	+	4	1049	c.892G>A	c.(892-894)Ggt>Agt	p.G298S	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	298						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGTAGCCGCTGGTTTTGCCTT	0.527000													35	79					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223838	55223838	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:55223838C>T	ENST00000340465.2	+	6	940	c.854C>T	c.(853-855)aCg>aTg	p.T285M		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	285						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCCTTGGGACGGTCCTTCAA	0.413000													23	89					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57157119	57157119	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:57157119C>T	ENST00000376149.3	-	7	1055	c.246G>A	c.(244-246)ctG>ctA	p.L82L	TRIM37_ENST00000262294.7_Silent_p.L204L|TRIM37_ENST00000393065.2_Silent_p.L170L|TRIM37_ENST00000393066.3_Silent_p.L204L			O94972	TRI37_HUMAN	tripartite motif containing 37	204						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACTTACCCATCAGTGTTATAA	0.418000									Mulibrey Nanism				24	80					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179632513	179632513	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:179632513T>C	ENST00000444136.1	+	16	2786	c.2536T>C	c.(2536-2538)Tgg>Cgg	p.W846R	TDRD5_ENST00000294848.8_Missense_Mutation_p.W792R|TDRD5_ENST00000367614.1_Missense_Mutation_p.W792R	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	823					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAAAGATACATGGGATGATTC	0.408000													26	123					0	0	1	0	0
RNFT1	51136	broad.mit.edu	37	17	58040406	58040406	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:58040406A>G	ENST00000305783.8	-	2	351	c.296T>C	c.(295-297)aTa>aCa	p.I99T	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Missense_Mutation_p.I62T	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	99						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ACCTGACCTTATATTTCTGGA	0.473000													26	68					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20455896	20455896	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:20455896G>C	ENST00000361078.2	-	16	2548	c.2526C>G	c.(2524-2526)ctC>ctG	p.L842L	PUM2_ENST00000403432.1_Silent_p.L840L|PUM2_ENST00000338086.5_Silent_p.L840L|PUM2_ENST00000536417.1_Silent_p.L784L|PUM2_ENST00000319801.5_Silent_p.L763L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	842	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACACATTTGAGCACATGAC	0.363000													15	112					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055831	93055831	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:93055831G>A	ENST00000359558.2	-	16	1663	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	CALCR_ENST00000394441.1_Missense_Mutation_p.P421L|CALCR_ENST00000360249.4_Missense_Mutation_p.P437L|CALCR_ENST00000421592.1_Missense_Mutation_p.P437L|CALCR_ENST00000426151.1_Missense_Mutation_p.P421L	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	437					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCGGTTGGAGGGGCGCCTCCC	0.562000													14	92					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277976	186277976	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:186277976G>C	ENST00000445192.2	+	7	3170	c.3125G>C	c.(3124-3126)aGa>aCa	p.R1042T	PRG4_ENST00000367484.3_Missense_Mutation_p.R571T|PRG4_ENST00000367483.4_Missense_Mutation_p.R1001T|PRG4_ENST00000367486.3_Missense_Mutation_p.R999T|PRG4_ENST00000367485.4_Missense_Mutation_p.R949T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1042					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACAATGCCTAGAGTGAGAAAA	0.443000													32	104					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72967212	72967212	+	Silent	SNP	C	C	A	rs149006982		TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:72967212C>A	ENST00000361138.5	+	25	3329	c.3271C>A	c.(3271-3273)Cgg>Agg	p.R1091R		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1091					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTTCCAAAGGCGGCGGCGCCG	0.373000													16	93					4.7546e-09	5.12034e-09	1	1	0
SPSB2	84727	broad.mit.edu	37	12	6981840	6981840	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr12:6981840C>T	ENST00000519357.1	-	2	412	c.226G>A	c.(226-228)Gat>Aat	p.D76N	SPSB2_ENST00000523102.1_Missense_Mutation_p.D76N|SPSB2_ENST00000524270.1_Missense_Mutation_p.D76N			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	76	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CGGGCCCCATCAGTGCTCTGG	0.652000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	99					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159858270	159858270	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:159858270G>A	ENST00000426543.2	-	4	489	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.P97S			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	97						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCCCCGGAGGGATCCTCTGTG	0.547000													20	39					0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172661909	172661909	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:172661909C>G	ENST00000329198.4	-	1	451	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	NKX2-5_ENST00000521848.1_Missense_Mutation_p.E60Q|NKX2-5_ENST00000424406.2_Missense_Mutation_p.E60Q	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	60	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCAGCCGCCTCGGGCCCAGCG	0.746000													3	17					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51855296	51855296	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr13:51855296C>T	ENST00000322475.8	+	4	1680	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	FAM124A_ENST00000280057.6_Silent_p.C551C	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	515								p.C551C(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCTCCCATGCGATACCCCCA	0.597000													12	51					0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41183210	41183210	+	Silent	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:41183210G>A	ENST00000252891.4	-	7	824	c.657C>T	c.(655-657)ttC>ttT	p.F219F	NUMBL_ENST00000598779.1_Silent_p.F178F|NUMBL_ENST00000540131.1_Silent_p.F178F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	219	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CCTCGCGGGCGAAGCTGGTGC	0.672000													3	15					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112462117	112462117	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:112462117C>T	ENST00000297145.4	-	5	1065	c.900G>A	c.(898-900)ctG>ctA	p.L300L		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	300										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTTTAAAGCCCAGGGACTCTA	0.378000													14	75					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72539399	72539399	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr10:72539399G>C	ENST00000299290.1	-	5	766	c.377C>G	c.(376-378)tCt>tGt	p.S126C	TBATA_ENST00000456372.2_Missense_Mutation_p.S126C|TBATA_ENST00000545575.1_Missense_Mutation_p.S116C	NM_152710.2	NP_689923			thymus, brain and testes associated																		AATGGGGACAGAGATGGTGGG	0.577000													8	23					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46308756	46308756	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr21:46308756G>C	ENST00000397850.2	-	15	2384	c.1932C>G	c.(1930-1932)agC>agG	p.S644R	ITGB2_ENST00000397857.1_Missense_Mutation_p.S644R|ITGB2_ENST00000397852.1_Missense_Mutation_p.S644R|ITGB2_ENST00000355153.4_Missense_Mutation_p.S644R|ITGB2_ENST00000302347.5_Missense_Mutation_p.S644R|ITGB2_ENST00000397854.3_Missense_Mutation_p.S587R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	644					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GACACGCCGCGCTGCAGTTCT	0.672000													18	30					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117237438	117237438	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr6:117237438C>G	ENST00000332958.2	+	9	949	c.933C>G	c.(931-933)atC>atG	p.I311M	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	311					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ATCCTGTTATCATTGATATTT	0.353000													10	72					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140737033	140737033	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr5:140737033G>T	ENST00000571252.1	+	1	2266	c.2266G>T	c.(2266-2268)Gag>Tag	p.E756*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTCCCACGAGGTCTCCCT	0.607000													34	103					1.04352e-10	1.13426e-10	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766577	57766577	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:57766577G>A	ENST00000371030.2	+	1	503	c.503G>A	c.(502-504)gGt>gAt	p.G168D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	168						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCACACGGGTGAGAGGCCC	0.617000													23	141					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69967974	69967974	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:69967974C>T	ENST00000359154.2	+	17	1885	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	WWP2_ENST00000448661.1_Missense_Mutation_p.S595F|WWP2_ENST00000568684.1_Missense_Mutation_p.S156F|WWP2_ENST00000356003.2_Missense_Mutation_p.S595F|WWP2_ENST00000542271.1_Missense_Mutation_p.S479F|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	595	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACCCCGCCTCCTCCATCAAC	0.517000													71	83					0	0	1	0	0
EIF6	3692	broad.mit.edu	37	20	33872177	33872177	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr20:33872177G>C	ENST00000374443.3	-	2	163	c.114C>G	c.(112-114)ggC>ggG	p.G38G	EIF6_ENST00000374450.3_Intron|EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374436.3_Intron	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	29					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGGGCTCCCGCCGCACCTGT	0.652000													112	136					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198771	170198771	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:170198771C>G	ENST00000231706.5	-	7	1615	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ATGTCACTCTCAGGTTGGTAT	0.498000													22	71					0	0	1	0	0
MT1JP	4498	broad.mit.edu	37	16	56669852	56669852	+	RNA	SNP	A	A	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:56669852A>T	ENST00000564564.1	+	0	178																											TTAAGTTCTGAGCGGAAGGGG	0.552000													4	41					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52940784	52940784	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:52940784T>A	ENST00000371544.3	-	13	2709	c.2447A>T	c.(2446-2448)cAa>cTa	p.Q816L	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.Q816L|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	816					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TAAATCATCTTGTTTCTTATC	0.378000													21	115					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80714073	80714073	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr17:80714073C>G	ENST00000355528.4	+	2	347	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	TBCD_ENST00000539345.2_Missense_Mutation_p.L73V|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	73					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCAGCCTCATCTGTTGGACCC	0.433000													8	16					0	0	1	0	0
C9orf41	138199	broad.mit.edu	37	9	77614701	77614701	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr9:77614701G>C	ENST00000376834.3	-	4	828	c.676C>G	c.(676-678)Caa>Gaa	p.Q226E	C9orf41_ENST00000376837.3_Intron	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	226										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TCATTTCCTTGACAAGCATAA	0.353000													14	68					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488489	84488489	+	Silent	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr16:84488489G>C	ENST00000416219.2	+	21	2135	c.2046G>C	c.(2044-2046)ctG>ctC	p.L682L	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.L682L			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	682					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAGTGGCCCTGAAGTCTGCAG	0.592000													10	38					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219544773	219544773	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:219544773C>T	ENST00000295709.3	+	9	1385	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	STK36_ENST00000392105.3_Missense_Mutation_p.S369L|STK36_ENST00000392106.2_Missense_Mutation_p.S369L|STK36_ENST00000440309.1_Missense_Mutation_p.S369L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	369					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGGGCTAAATCAGGGACTGGA	0.547000													18	39					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1343412	1343412	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr4:1343412G>A	ENST00000389851.4	+	3	646	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	UVSSA_ENST00000511216.1_Missense_Mutation_p.E67K|UVSSA_ENST00000507531.1_Missense_Mutation_p.E67K	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	67																	GATTGTGGAGGAACTCTTCGT	0.607000													8	34					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18766050	18766050	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:18766050C>G	ENST00000304081.4	-	4	553	c.453G>C	c.(451-453)gaG>gaC	p.E151D	NT5C1B_ENST00000359846.2_Missense_Mutation_p.E211D|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E211D|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E211D	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CCTCCGGATTCTCTTGCATTT	0.697000													8	32					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260446	30260446	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr18:30260446C>T	ENST00000359358.4	-	6	1793	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	452						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGACACATAGCGCCATTCATT	0.468000													11	110					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002783	132002783	+	Silent	SNP	C	C	T			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:132002783C>T	ENST00000286355.5	-	2	3058	c.966G>A	c.(964-966)gtG>gtA	p.V322V	ADCY8_ENST00000377928.3_Silent_p.V322V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	322					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCCTGGGCCACAACCTAAA	0.428000										HNSCC(32;0.087)			36	106					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701984	143701984	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:143701984C>G	ENST00000408922.2	+	1	963	c.895C>G	c.(895-897)Ctg>Gtg	p.L299V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CAAGGAAGCTCTGAAGAAACT	0.428000													10	25					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617431	77617431	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr8:77617431G>C	ENST00000521891.2	+	2	1556	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E370Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E370Q|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E370Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	370						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTCATGTTGAAAATGGTGA	0.488000										HNSCC(33;0.089)			12	65					0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23848422	23848422	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:23848422delA	ENST00000361729.2	-	3	911	c.485delT	c.(484-486)ctgfs	p.L162fs		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	162	Leucine-zipper.				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTGCACGTCCAGCACCTCAGC	0.572													19	60	---	---	---	---					
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.640													7	66	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71747316	71747316	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr2:71747316delG	ENST00000258104.3	+	10	1192	c.915delG	c.(913-915)gtgfs	p.V305fs	DYSF_ENST00000429174.2_Frame_Shift_Del_p.V305fs|DYSF_ENST00000409582.3_Frame_Shift_Del_p.V336fs|DYSF_ENST00000409744.1_Frame_Shift_Del_p.V306fs|DYSF_ENST00000409762.1_Frame_Shift_Del_p.V336fs|DYSF_ENST00000410041.1_Frame_Shift_Del_p.V337fs|DYSF_ENST00000413539.2_Frame_Shift_Del_p.V336fs|DYSF_ENST00000409651.1_Frame_Shift_Del_p.V337fs|DYSF_ENST00000410020.3_Frame_Shift_Del_p.V337fs|DYSF_ENST00000409366.1_Frame_Shift_Del_p.V306fs|DYSF_ENST00000394120.2_Frame_Shift_Del_p.V306fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	305						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						AGATGGACGTGGGCACCATTT	0.463													44	133	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195390919	195390919	+	RNA	DEL	A	A	-			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr3:195390919delA	ENST00000445430.1	+	0	482																											TGACTCCTTTAGGGTAATAAG	0.333													14	43	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698													4	8	---	---	---	---					
CTC-559E9.6	0	broad.mit.edu	37	19	19944259	19944260	+	RNA	DEL	GT	GT	-			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:19944259_19944260delGT	ENST00000591884.1	+	0	393																											TGGTAAAAACGTGTGTGTGTGT	0.426													11	122	---	---	---	---					
C19orf12	83636	broad.mit.edu	37	19	30193868	30193868	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:30193868delC	ENST00000323670.9	-	3	316	c.177delG	c.(175-177)gggfs	p.G59fs	C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000592153.1_Frame_Shift_Del_p.G59fs|C19orf12_ENST00000392278.2_Frame_Shift_Del_p.G70fs	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	59						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CACCTAACAGCCCCCCGACAG	0.527													13	1023	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													7	657	---	---	---	---					
USP9Y	8287	broad.mit.edu	37	Y	14922192	14922192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-AAQO-01A-11D-A38G-08	TCGA-K4-AAQO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ced678ae-b3bb-47a6-b232-0156e99eef76	ef726884-0dba-4561-bdbb-76836cf6cc3d	g.chrY:14922192delC	ENST00000338981.3	+	28	5007	c.4062delC	c.(4060-4062)ttcfs	p.F1355fs	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1355					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTCTGCTTTTCTTCATTACTT	0.363													71	42	---	---	---	---