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
OR8J3	81168	broad.mit.edu	37	11	55904472	55904472	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:55904472G>A	ENST00000301529.1	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATGCGAAGCGCAGGTGGAAA	0.388000													25	39					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972927	69972927	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:69972927C>A	ENST00000305231.7	+	4	1083	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.T346N	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	346					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAACCAGATACCTTAGGTCTC	0.358000													29	91					9.80977e-26	1.02363e-25	1	1	0
MYH7B	57644	broad.mit.edu	37	20	33568534	33568534	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr20:33568534C>T	ENST00000262873.7	+	6	714	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	166	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACATGCTGCGCAGTAAGGG	0.652000													41	86					0	0	1	0	0
TMEM91	641649	broad.mit.edu	37	19	41889651	41889651	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:41889651A>G	ENST00000392002.2	+	4	1052	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000356385.4_3'UTR|BCKDHA_ENST00000595085.1_Intron	NM_001098821.1	NP_001092291.1			transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGGACATCCAGGGGGCAGGG	0.706000													5	64					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532027	42532027	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:42532027G>A	ENST00000282030.5	+	4	3018	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	908						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CATTCCGTCCGACACCAGCAC	0.532000									Schinzel-Giedion syndrome				17	33					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68040315	68040315	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:68040315A>C	ENST00000433211.1	-	13	1971	c.1797T>G	c.(1795-1797)aaT>aaG	p.N599K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.N599K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	599					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATCCAACACATTCAATGAGC	0.338000													24	21					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627000													4	62					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34258115	34258115	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:34258115C>T	ENST00000373381.4	-	11	1635	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	CSMD2_ENST00000338325.1_Missense_Mutation_p.A95T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	447	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTCAAAGGCGAGCTTGATC	0.532000													5	71					0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241073371	241073371	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:241073371C>T	ENST00000307266.3	-	2	207	c.208G>A	c.(208-210)Gtt>Att	p.V70I	MYEOV2_ENST00000607357.1_Missense_Mutation_p.V39I|MYEOV2_ENST00000489698.1_5'UTR	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	39								p.V70F(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483000													33	84					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155578065	155578065	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:155578065C>G	ENST00000461783.3	+	29	6189	c.4916C>G	c.(4915-4917)gCc>gGc	p.A1639G	TIAM2_ENST00000275246.7_Missense_Mutation_p.A564G|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983G|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668G|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639G|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663G|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668G|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015G|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1639				A -> T (in Ref. 7; BAC86170).	apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAACGAAAAGCCAACAGCACC	0.567000													23	31					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196730813	196730813	+	Missense_Mutation	SNP	G	G	A	rs143354088		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:196730813G>A	ENST00000296350.5	-	15	2209	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	699	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TTCCAGCGCCGCCACGTAGTC	0.647000													94	178					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8470099	8470099	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:8470099G>A	ENST00000513449.2	+	9	1479	c.1230G>A	c.(1228-1230)agG>agA	p.R410R	TRMT44_ENST00000389737.4_Intron					tRNA methyltransferase 44 homolog (S. cerevisiae)																		TCTTAGGGAGGGGCTAGCACG	0.478000											OREG0016098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	39					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120391	46120391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:46120391G>A	ENST00000355105.3	-	6	1661	c.301C>T	c.(301-303)Cga>Tga	p.R101*	GPBP1L1_ENST00000290795.3_Nonsense_Mutation_p.R101*	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCATGACCTCGGGAAGAGCTA	0.557000													26	34					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349991	100349991	+	RNA	SNP	T	T	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:100349991T>C	ENST00000542585.1	+	0	2411				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S755P(5)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.517000													10	172					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509638	23509638	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:23509638G>T	ENST00000296682.3	+	3	311	c.129G>T	c.(127-129)atG>atT	p.M43I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	43	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCAGAGATGGGAGACTGGG	0.433000										HNSCC(3;0.000094)			6	165					5.9392e-07	5.9392e-07	1	1	0
LAT	0	broad.mit.edu	37	16	28996764	28996764	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr16:28996764G>A	ENST00000395456.2	+	1	348	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	LAT_ENST00000564277.1_Missense_Mutation_p.C9Y|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000566177.1_Missense_Mutation_p.C9Y|LAT_ENST00000395461.3_Missense_Mutation_p.C45Y|LAT_ENST00000454369.2_Missense_Mutation_p.C9Y|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000360872.5_Missense_Mutation_p.C9Y|LAT_ENST00000354453.4_Missense_Mutation_p.C9Y	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	9					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTGGTCCCCTGCGTGCTGGGG	0.642000													26	52					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652000			T	BCL6	NHL								7	120					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038487	75038487	+	Silent	SNP	A	A	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:75038487A>C	ENST00000326665.5	-	14	3125	c.2907T>G	c.(2905-2907)ggT>ggG	p.G969G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	969	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCTTCAGAACCGTCCTCTC	0.522000													44	76					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916850	149916850	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:149916850C>T	ENST00000369135.3	-	12	1732	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	480					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CGGCCGCCCTCGTTGCTGGTG	0.582000													8	156					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	613254	613254	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:613254G>A	ENST00000251287.2	+	6	1644	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	531					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCAGGAGATCGTCAACTTCAA	0.672000													17	32					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48613860	48613860	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:48613860G>A	ENST00000537145.1	+	2	327	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000268933.3_5'UTR			Q9H201	EPN3_HUMAN	epsin 3	225	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGCCACAGTGGCCCTCAGCCC	0.647000													30	61					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38674720	38674720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:38674720G>A	ENST00000413689.1	-	2	272	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	SCN5A_ENST00000333535.4_Missense_Mutation_p.R27C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R27C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R27C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R27C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R27C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R27C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R27C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R27C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R27C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	27			R -> H (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGCCATGCGCTTCTCGATG	0.647000													19	45					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752248	76752248	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:76752248C>T	ENST00000575389.2	+	2	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	SALL3_ENST00000537592.2_Missense_Mutation_p.A86V|SALL3_ENST00000536229.3_5'UTR			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGAGGACGCGCCCGCGCCG	0.726000													10	20					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCCCCAGAAGAGCCACA	0.677000													6	281					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43110444	43110444	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:43110444G>A	ENST00000428554.2	+	20	2999	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CCDC30_ENST00000390640.4_Missense_Mutation_p.R408Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R619Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.R408Q|CCDC30_ENST00000340612.4_Missense_Mutation_p.R619Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	619										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTCTTAGAGCGAATTATAAGG	0.428000													22	47					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102303120	102303120	+	RNA	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:102303120C>G	ENST00000561463.1	+	0	11166																											CTTCTCAGAGCTGCTGTCCAA	0.592000													3	39					0	0	1	0	0
MID1	0	broad.mit.edu	37	X	10534972	10534972	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:10534972C>T	ENST00000317552.4	-	2	1016	c.616G>A	c.(616-618)Gat>Aat	p.D206N	MID1_ENST00000380779.1_Missense_Mutation_p.D206N|MID1_ENST00000453318.2_Missense_Mutation_p.D206N|MID1_ENST00000380780.1_Missense_Mutation_p.D206N|MID1_ENST00000380782.2_Missense_Mutation_p.D206N|MID1_ENST00000380785.1_Missense_Mutation_p.D206N|MID1_ENST00000380787.1_Missense_Mutation_p.D206N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	206					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGATGATCGCGGTGCCGC	0.488000													25	57					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8741186	8741186	+	Silent	SNP	C	C	T	rs149242502	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:8741186C>T	ENST00000311434.9	-	5	431	c.192G>A	c.(190-192)gcG>gcA	p.A64A	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	64					platelet activation	cytosol											CCTGGCTTTCCGCCTGGAAAA	0.582000													27	56					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26457128	26457128	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:26457128A>G	ENST00000380649.3	-	5	539	c.410T>C	c.(409-411)aTt>aCt	p.I137T	HADHA_ENST00000457468.2_Missense_Mutation_p.I50T|HADHA_ENST00000461025.1_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	137					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GGCAGCCACAATAGGCTTTGT	0.443000													21	42					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567140	5567140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:5567140G>A	ENST00000315238.1	+	1	217	c.92G>A	c.(91-93)cGc>cAc	p.R31H	RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	31	EF-hand 1.						calcium ion binding			endometrium(3)|lung(2)	5						ATCACCACCCGCGAGCTGGGC	0.647000													18	22					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975186	42975186	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:42975186C>T	ENST00000485511.1	+	6	847	c.668C>T	c.(667-669)tCt>tTt	p.S223F	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.S215F|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.S117F|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.S191F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	223					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCCTTGAGTCTCCTGATTTC	0.512000													45	82					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37471260	37471260	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:37471260G>A	ENST00000381792.2	-	11	1397	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	TMPRSS6_ENST00000406725.1_Silent_p.A419A|TMPRSS6_ENST00000406856.1_Silent_p.A419A|TMPRSS6_ENST00000346753.3_Silent_p.A428A			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	428	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGTGATCCCGGCCGTGGCCA	0.652000													50	78					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													3	50					0	0	1	0	0
EGFL8	80864	broad.mit.edu	37	6	32135153	32135153	+	Missense_Mutation	SNP	G	G	T	rs149576421		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:32135153G>T	ENST00000395512.1	+	7	733	c.628G>T	c.(628-630)Gct>Tct	p.A210S	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.A210S			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	210						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGATGAGCGCGCTCTGAAGCA	0.652000													36	44					3.76114e-14	3.84116e-14	1	1	0
MEP1A	4224	broad.mit.edu	37	6	46800871	46800871	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:46800871G>A	ENST00000230588.4	+	11	1214	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	402	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.R402H(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGAAGTTTCGCTACCTTTTC	0.507000													34	73					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			1305	1732					1.82951e-191	1.95147e-191	1	1	0
TGM5	9333	broad.mit.edu	37	15	43545044	43545044	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:43545044C>G	ENST00000220420.5	-	6	782	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	TGM5_ENST00000349114.4_Missense_Mutation_p.V177L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	259					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGGATGGCCACGCTGCCCGTC	0.567000													43	87					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65007730	65007730	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr14:65007730G>A	ENST00000247207.6	+	1	545	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	HSPA2_ENST00000394709.1_Missense_Mutation_p.A55T|HSPA2_ENST00000554883.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	55					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCGGCGACGCCGCCAAGAA	0.597000													22	72					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856042	12856042	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:12856042T>A	ENST00000332296.7	+	4	1425	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L196Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	441										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTGTACACTGAGGGAAGTC	0.562000													46	289					0	0	1	0	0
CD99	4267	broad.mit.edu	37	X	2656284	2656284	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:2656284C>T	ENST00000381192.3	+	9	701	c.519C>T	c.(517-519)aaC>aaT	p.N173N	CD99_ENST00000381187.3_Silent_p.N157N	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	173			N -> I (in dbSNP:rs4717).		cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GGAATGCCAACGCAGAGCCAG	0.527000													6	219					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527057	7527057	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:7527057G>A	ENST00000313599.3	-	13	3447	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	CD163L1_ENST00000396630.1_Silent_p.D1130D|CD163L1_ENST00000416109.2_Silent_p.D1140D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1130	SRCR 10.					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						TGACCCCTGCGTCCTCCTTGT	0.567000													44	73					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267666	124267666	+	Missense_Mutation	SNP	G	G	A	rs35951597	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:124267666G>A	ENST00000395571.3	-	3	1138	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZHX1_ENST00000522655.1_Missense_Mutation_p.S174L|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S174L	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	174					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGATATTCCCGAAGAAGAAAC	0.343000													14	59					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629342	48629342	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:48629342C>T	ENST00000328333.8	-	10	1453	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R449Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	449	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCTCACGCCGCCATTCCAA	0.632000													99	77					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32235068	32235068	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:32235068C>T	ENST00000382142.3	-	14	1682	c.1512_splice	c.e14+1	p.M504_splice	MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Splice_Site_p.M504_splice	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	504	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGACTCTTACCATGTTAGTAT	0.378000													13	33					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:7229901G>C	ENST00000379938.2	+	10	2106	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000349384.6_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687000													9	103					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686253	125686253	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637000													4	124					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130988317	130988317	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:130988317G>A	ENST00000393594.3	+	10	1254	c.1200G>A	c.(1198-1200)acG>acA	p.T400T	DNM1_ENST00000486160.1_Silent_p.T400T|DNM1_ENST00000475805.1_Silent_p.T400T|DNM1_ENST00000372923.3_Intron|DNM1_ENST00000341179.7_Intron			Q05193	DYN1_HUMAN	dynamin 1	400					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTGCAGGACGGGCCTCTTCA	0.582000													12	85					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63709527	63709527	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:63709527G>A	ENST00000421025.1	+	2	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572000													16	66					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377437	18377437	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:18377437C>T	ENST00000392413.3	-	3	1128	c.913G>A	c.(913-915)Gca>Aca	p.A305T	KIAA1683_ENST00000600328.2_Missense_Mutation_p.A305T|KIAA1683_ENST00000600359.2_Missense_Mutation_p.A259T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	305						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCGTAACTGCCTGGTCATAC	0.567000													41	138					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17204201	17204201	+	Missense_Mutation	SNP	G	G	C	rs143074583		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:17204201G>C	ENST00000377799.3	-	4	334	c.287C>G	c.(286-288)aCg>aGg	p.T96R	TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Missense_Mutation_p.T37R|TRDMT1_ENST00000412821.3_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	96					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GAAGCTATTCGTCCTTGAATC	0.343000													33	34					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	130					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117774318	117774318	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:117774318C>T	ENST00000445164.2	-	12	1802	c.1729G>A	c.(1729-1731)Ggt>Agt	p.G577S	TMPRSS13_ENST00000528626.1_Intron|TMPRSS13_ENST00000430170.2_Intron|TMPRSS13_ENST00000524993.1_Intron			Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	572					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGGTCCCCACCTGAGGAAGTT	0.577000													6	21					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32937651	32937651	+	Missense_Mutation	SNP	C	C	T	rs141167959		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:32937651C>T	ENST00000358763.2	-	8	1065	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SYN3_ENST00000332840.5_Missense_Mutation_p.A275T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	275	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCATGGCGACCACGCTG	0.542000													15	29					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228548163	228548163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:228548163C>T	ENST00000284548.11	+	81	19644	c.19570C>T	c.(19570-19572)Cga>Tga	p.R6524*	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R3643*			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7545	Protein kinase 1.				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)				ACTGGGTCCCCGAGGCCCTCT	0.687000													17	29					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466000	78466000	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:78466000C>T	ENST00000258873.4	-	13	2229	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433Q|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	675					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGTAGGGCCGGGCCGCCGC	0.562000													34	48					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044602	33044602	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr21:33044602C>T	ENST00000286835.7	-	20	2936	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	SCAF4_ENST00000434667.3_Missense_Mutation_p.A837T|SCAF4_ENST00000399804.1_Missense_Mutation_p.A830T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	852						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCGGGCCGGGCGCCAAGAAGA	0.562000													31	61					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160039781	160039781	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:160039781G>A	ENST00000327245.5	-	18	3651	c.2805C>T	c.(2803-2805)acC>acT	p.T935T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	935					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAGTGTCGGTCTGATTTA	0.493000													12	50					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19031906	19031906	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:19031906G>A	ENST00000354791.3	-	15	1190	c.949C>T	c.(949-951)Cat>Tat	p.H317Y	GPR64_ENST00000340581.3_Missense_Mutation_p.H303Y|GPR64_ENST00000360279.4_Missense_Mutation_p.H311Y|GPR64_ENST00000357991.3_Missense_Mutation_p.H330Y|GPR64_ENST00000379869.3_Missense_Mutation_p.H333Y|GPR64_ENST00000379873.2_Missense_Mutation_p.H333Y|GPR64_ENST00000356606.4_Missense_Mutation_p.H319Y|GPR64_ENST00000379876.1_Missense_Mutation_p.H309Y|GPR64_ENST00000379878.3_Missense_Mutation_p.H317Y|GPR64_ENST00000357544.3_Missense_Mutation_p.H303Y			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	333					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCGGAGACATGGGTTTGGGGC	0.582000													88	168					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418835	23418835	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000314174.5_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000374623.3_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468000													4	155					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													6	87					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159280	152159280	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562000													42	91					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52824844	52824844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:52824844C>T	ENST00000273283.2	+	20	2425	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	ITIH1_ENST00000540715.1_Nonsense_Mutation_p.R659*|ITIH1_ENST00000405128.3_Nonsense_Mutation_p.R167*|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.R513*|ITIH1_ENST00000542827.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	801	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTTTTGCACCGAGTGTGGAA	0.612000													7	224					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470885	79470885	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:79470885C>T	ENST00000370742.3	-	2	105	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	14					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGAACAATTCAACAAAGTGG	0.333000													9	23					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42006178	42006178	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:42006178G>A	ENST00000395925.3	-	15	2577	c.2493C>T	c.(2491-2493)agC>agT	p.S831S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	831					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S831S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGAGAGGTCGCTTCTGCCCG	0.602000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				46	138					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122759134	122759134	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:122759134C>T	ENST00000194130.2	-	13	1552		c.e13+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAGATACTCACCAATGGAGAT	0.383000													10	45					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282387	152282387	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:152282387C>T	ENST00000368799.1	-	3	5010	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1659	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCATGACGA	0.562000									Ichthyosis				167	315					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100043170	100043170	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:100043170G>A	ENST00000324341.1	+	2	1142	c.720G>A	c.(718-720)gaG>gaA	p.E240E	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	240										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ATACAATAGAGATATGAATCC	0.413000													32	59					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105142878	105142878	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:105142878T>C	ENST00000356362.2	-	5	933	c.719A>G	c.(718-720)aAg>aGg	p.K240R	PUS7_ENST00000469408.1_Missense_Mutation_p.K240R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	240					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGCCAAAGCCTTTTTCCCAGC	0.537000													4	171					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356877	104356877	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:104356877G>A	ENST00000374806.1	-	1	406	c.336C>T	c.(334-336)aaC>aaT	p.N112N	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	109	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AGAGCTCCCCGTTGGAAATGT	0.542000													33	68					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72658498	72658498	+	RNA	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:72658498G>A	ENST00000425256.1	-	0	1413					NR_002164.1																						tgatctcatcgattgcgatag	0.463000													24	94					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121097685	121097685	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:121097685G>T	ENST00000273666.6	+	22	2642	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S	STXBP5L_ENST00000472879.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A791S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	791					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTTCGAAAGGCCCAGTCAGC	0.388000													15	29					4.7546e-09	4.80465e-09	1	1	0
KERA	11081	broad.mit.edu	37	12	91449551	91449551	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:91449551G>T	ENST00000266719.3	-	2	755	c.508C>A	c.(508-510)Ctt>Att	p.L170I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	170					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGGTCAAGAAGGGTCAGGTTC	0.403000													42	100					2.77807e-22	2.86768e-22	1	1	0
BMP3	651	broad.mit.edu	37	4	81967784	81967784	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:81967784C>T	ENST00000282701.2	+	2	1529	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	403					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTGGAGCATGCCAGTTCCCCA	0.448000													5	217					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148622095	148622095	+	Missense_Mutation	SNP	C	C	T	rs139404389	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:148622095C>T	ENST00000506113.1	+	14	1827	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R354W|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R416W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R449W			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	449					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCTACAAACGGCATGGTAT	0.572000													12	130					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590552	8590552	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:8590552A>G	ENST00000157600.3	+	4	918	c.686A>G	c.(685-687)aAc>aGc	p.N229S	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.N229S|LMCD1_ENST00000397386.3_Missense_Mutation_p.N117S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N156S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	229					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTACCACCAACGGCAGTCTC	0.612000													16	30					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60111221	60111221	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:60111221C>T	ENST00000397786.2	-	5	817	c.741G>A	c.(739-741)aaG>aaA	p.K247K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	247					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGACATCTCCTTCAAGCAAC	0.383000													6	55					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	48					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													8	254	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	213	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:74228912_74228914delCAC	ENST00000316292.9	-	3	1353_1355	c.362_364delGTG	c.(361-366)gaa>g	p.GE121del	EEF1A1_ENST00000309268.6_In_Frame_Del_p.GE121del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.GE121del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	121						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						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	31	---	---	---	---					
PTGDR2	11251	broad.mit.edu	37	11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)del	p.R343del		NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN	prostaglandin D2 receptor 2	343					immune response	integral to plasma membrane	N-formyl peptide receptor activity										TGGAGGAGGTGCGGCGGCGGCGG	0.749													2	4	---	---	---	---					
ARHGEF25	115557	broad.mit.edu	37	12	58010623	58010623	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:58010623delA	ENST00000286494.4	+	15	2149	c.1689delA	c.(1687-1689)ccfs	p.P563fs	ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	563					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCCAACTCCAAAAACCCCTC	0.537													8	952	---	---	---	---					
POC1B-GALNT4	0	broad.mit.edu	37	12	89916851	89916854	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:89916851_89916854delTTTG	ENST00000548729.1	-	3	1766_1769	c.1464_1467delCAAA	c.(1462-1467)aafs	p.NK488fs	POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Frame_Shift_Del_p.NK491fs|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Frame_Shift_Del_p.NK319fs|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					ACCTTATTTCTTTGTTTGAAGTAT	0.387													16	26	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					7	394	---	---	---	---					
RRN3P3	0	broad.mit.edu	37	16	22448752	22448753	+	RNA	INS	-	-	GCGGCGGCG			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr16:22448752_22448753insGCGGCGGCG	ENST00000551766.1	-	0	283_284					NR_027460.1																						GTCTCGGCTGAGCGGCGGCGGC	0.733													2	4	---	---	---	---					
LENG8-AS1	0	broad.mit.edu	37	19	54958199	54958200	+	RNA	DEL	CT	CT	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:54958199_54958200delCT	ENST00000429922.1	-	0	504				LENG8-AS1_ENST00000416022.1_RNA																							ATGTTTTGTACTTAAGTACACA	0.371													4	3	---	---	---	---