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
GPRIN2	9721	broad.mit.edu	37	10	46999058	46999058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr10:46999058C>T	uc001jec.3	+	2	313	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GPRIN2_uc021ppt.1_Nonsense_Mutation_p.Q60*	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	60										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACCAGACCCCAGGCCCCGGA	0.701000													12	54					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47845343	47845343	+	Silent	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:47845343C>T	uc002xuh.3	+	7	952	c.891C>T	c.(889-891)ccC>ccT	p.P297P		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	297	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCTAGTGCCCACCCGAGAGC	0.602000													46	42					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679466	100679466	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr7:100679466C>A	uc003uxp.1	+	2	4822	c.4769C>A	c.(4768-4770)gCt>gAt	p.A1590D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1590	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCTGAGGCTAACACCCTT	0.488000													83	173					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567521	136567521	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:136567521C>T	uc002tuu.1	-	7	2407	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	799	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AATGAGGGAACGAGCAATGTA	0.438000													23	47					0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38236241	38236241	+	Splice_Site	SNP	G	G	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr22:38236241G>C	uc003auc.3	-	2	437	c.329_splice	c.e2-1	p.A110_splice	ANKRD54_uc003aud.3_Splice_Site	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	110										lung(1)	1	Melanoma(58;0.045)					TCTCTTCAGAGCTGTAAAGAG	0.547000													3	100					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891209	18891209	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr12:18891209C>A	uc001rdy.3	+	0	165	c.7C>A	c.(7-9)Ctt>Att	p.L3I	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L3V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438000													5	89					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65113681	65113681	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:65113681G>A	uc001dbo.1	+	8	1306	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	CACHD1_uc001dbp.1_Missense_Mutation_p.V156I|CACHD1_uc001dbq.1_Missense_Mutation_p.V156I	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	452	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGATGAAGCCGTCTTCAGCCT	0.488000													3	26					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77452179	77452179	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:77452179G>C	uc003kfj.3	-	13	1501	c.1376C>G	c.(1375-1377)gCt>gGt	p.A459G		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	459					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACACTTTCAGCAACAACTAT	0.294000									Hermansky-Pudlak syndrome				27	43					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			33	53					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128642762	128642762	+	Silent	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:128642762C>T	uc010sbu.2	+	3	814	c.471C>T	c.(469-471)tcC>tcT	p.S157S	FLI1_uc010sbt.2_Intron|FLI1_uc010sbv.2_Silent_p.S124S|FLI1_uc009zci.3_Silent_p.S91S	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	157	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T156I(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCGACACATCCTTTTTCCAGA	0.522000			T	EWSR1	Ewing sarcoma								4	172					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73043675	73043675	+	RNA	SNP	A	A	G			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chrX:73043675A>G	uc004ebn.2	+	0		c.31636A>G			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TCACACCTATATTACTTCATT	0.368000													4	105					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36303117	36303117	+	Silent	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:36303117C>T	uc002obx.1	-	3	675	c.657G>A	c.(655-657)cgG>cgA	p.R219R		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	219					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.R219W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGAGGCCCCGTGACAGGT	0.647000													22	45					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61444704	61444704	+	Silent	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:61444704G>A	uc002ydj.3	+	6	1772	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S	OGFR_uc002ydk.3_Silent_p.S562S|OGFR_uc002ydl.3_Silent_p.S527S	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	Homo sapiens opioid growth factor receptor (OGFR), mRNA.	579	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					AGAGCCCATCGGAGACCCCAG	0.741000													3	9					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167829094	167829094	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:167829094A>G	uc001ger.3	-	15	2145	c.1847T>C	c.(1846-1848)tTg>tCg	p.L616S	ADCY10_uc010plj.2_Missense_Mutation_p.L463S|ADCY10_uc009wvk.3_Missense_Mutation_p.L524S|ADCY10_uc009wvl.3_Missense_Mutation_p.L615S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	616					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGCTTTTTCAAGGTGCTCAT	0.393000													4	174					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94079271	94079271	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr14:94079271G>A	uc001ybv.1	+	24	3501	c.3418G>A	c.(3418-3420)Gct>Act	p.A1140T	UNC79_uc001ybs.1_Missense_Mutation_p.A1118T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1295						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						TGAAAGCAGCGCTGAGTCAGA	0.527000													22	38					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70569224	70569224	+	Silent	SNP	A	A	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr16:70569224A>T	uc002ezf.3	+	5	937	c.726A>T	c.(724-726)tcA>tcT	p.S242S	SNORD111_uc002ezg.1_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	242					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGGAGGGTCAGATGGTCCAA	0.448000													92	140					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134062170	134062170	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr8:134062170T>C	uc011ljd.2	-	2	423	c.345A>G	c.(343-345)atA>atG	p.I115M	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Missense_Mutation_p.I75M|SLA_uc011lje.2_Missense_Mutation_p.I92M|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Missense_Mutation_p.I92M|SLA_uc010mdy.1_Missense_Mutation_p.I75M|SLA_uc010mdz.1_Missense_Mutation_p.I75M|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	75	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGGCCACACATATTCCAGGGA	0.448000													22	33					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531461	140531461	+	Missense_Mutation	SNP	C	C	A	rs61730259		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:140531461C>A	uc003lir.3	+	0	1623	c.1623C>A	c.(1621-1623)agC>agA	p.S541R		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	541	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGAGCAGCGAGGCGCTGG	0.682000													3	102					0	0	1	0	0
GIP	2695	broad.mit.edu	37	17	47039134	47039134	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr17:47039134G>A	uc002iol.1	-	3	403	c.305C>T	c.(304-306)gCc>gTc	p.A102V		NM_004123	NP_004114	P09681	GIP_HUMAN	Homo sapiens gastric inhibitory polypeptide (GIP), mRNA.	102					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						AGCTTGACTGGCCAGCTCCAG	0.617000													3	27					0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108510354	108510354	+	Splice_Site	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr9:108510354C>T	uc004bcu.1	+	5	660	c.543_splice	c.e5-1	p.Y181_splice	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	181						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTATTTTCAGCCCTGCCAAGG	0.363000													4	58					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113332659	113332661	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:113332659_113332661delCCA	uc002thw.2	+	14	3341_3343	c.2761_2763delCCA	c.(2761-2763)ccadel	p.P921del	POLR1B_uc010fkn.2_In_Frame_Del_p.P865del|POLR1B_uc002thx.2_In_Frame_Del_p.P782del|POLR1B_uc010fko.2_In_Frame_Del_p.P738del|POLR1B_uc010fkp.2_In_Frame_Del_p.P360del|POLR1B_uc002thy.2_In_Frame_Del_p.P782del|POLR1B_uc010yxo.1_In_Frame_Del_p.P698del	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	921					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCATGGTTTTCCATCCCGCATGA	0.507													40	88	---	---	---	---					
ANKLE1	126549	broad.mit.edu	37	19	17394682	17394682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:17394682delT	uc010xpn.1	+	4	1385	c.1271delT	c.(1270-1272)ctcfs	p.L424fs	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Frame_Shift_Del_p.L370fs|ANKLE1_uc010eao.1_Frame_Shift_Del_p.L392fs|ANKLE1_uc002nfy.2_Frame_Shift_Del_p.L359fs|ANKLE1_uc002nfz.2_Frame_Shift_Del_p.L76fs			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	370						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTGAAGGGACTCCGAGCACTT	0.577													21	39	---	---	---	---