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
NPHP4	261734	broad.mit.edu	37	1	5969267	5969267	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:5969267G>C	uc001alq.2	-	11	1716	c.1448C>G	c.(1447-1449)cCa>cGa	p.P483R	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Intron|NPHP4_uc001alt.2_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	483					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TACTGGCGCTGGCGGGCCTGG	0.642												
PRAMEF2	65122	broad.mit.edu	37	1	12918957	12918957	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:12918957G>A	uc001aum.1	+	1	180	c.93G>A	c.(91-93)ctG>ctA	p.L31L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	31										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGAGCTGCCCAGGGTGC	0.622												
MACF1	23499	broad.mit.edu	37	1	39753206	39753206	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:39753206A>T	uc021olt.1	+	13	1824	c.1772A>T	c.(1771-1773)gAa>gTa	p.E591V	MACF1_uc021ols.1_Missense_Mutation_p.E591V|MACF1_uc001cdc.2_Missense_Mutation_p.E591V|MACF1_uc001cda.1_Missense_Mutation_p.E499V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	591					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTGTGTATGAACTACTGTCT	0.463												
FAAH	2166	broad.mit.edu	37	1	46871972	46871972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:46871972C>T	uc001cpu.2	+	6	965	c.883C>T	c.(883-885)Cga>Tga	p.R295*	FAAH_uc001cpv.2_Intron	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	295					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	ACTGTGCCTGCGAGCCCTGCT	0.642											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HOOK1	51361	broad.mit.edu	37	1	60312821	60312821	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:60312821A>T	uc009wad.3	+	10	995	c.893A>T	c.(892-894)gAa>gTa	p.E298V	HOOK1_uc001czo.3_Missense_Mutation_p.E298V|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.E256V	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	298	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CTTGCAGAAGAAACAAGAGCC	0.348												
PDE4B	5142	broad.mit.edu	37	1	66831413	66831413	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:66831413C>T	uc001dcn.3	+	12	1539	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	PDE4B_uc009war.3_Missense_Mutation_p.H358Y|PDE4B_uc001dco.3_Missense_Mutation_p.H450Y|PDE4B_uc001dcp.3_Missense_Mutation_p.H435Y|PDE4B_uc001dcq.3_Missense_Mutation_p.H278Y|PDE4B_uc009was.3_Missense_Mutation_p.H217Y	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	450					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGACGTTGATCATCCTGGAGT	0.418												
SLC44A3	126969	broad.mit.edu	37	1	95322914	95322914	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:95322914G>A	uc001dqv.4	+	9	1203	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S	SLC44A3_uc001dqx.4_Missense_Mutation_p.G366S|SLC44A3_uc010otq.2_Missense_Mutation_p.G298S|SLC44A3_uc010otr.2_Missense_Mutation_p.G330S|SLC44A3_uc001dqw.4_Missense_Mutation_p.G318S|SLC44A3_uc010ots.2_Missense_Mutation_p.G286S|SLC44A3_uc009wds.3_Missense_Mutation_p.G269S|SLC44A3_uc010ott.2_Missense_Mutation_p.G286S|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	366						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATGGAAGGCGGCCAAGTGGA	0.458												
FLG2	388698	broad.mit.edu	37	1	152327770	152327770	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:152327770G>T	uc001ezw.4	-	2	2565	c.2492C>A	c.(2491-2493)tCt>tAt	p.S831Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	831	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGATTGTCC	0.517												
GORAB	92344	broad.mit.edu	37	1	170508571	170508571	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:170508571C>T	uc001gha.2	+	1	384	c.357C>T	c.(355-357)ccC>ccT	p.P119P	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.4_Silent_p.P119P|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	119						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCACCTCCCCCGTTGGTGATG	0.468												
NEK7	140609	broad.mit.edu	37	1	198262082	198262082	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:198262082G>A	uc001gun.4	+	7	924	c.597G>A	c.(595-597)acG>acA	p.T199T	NEK7_uc021pgx.1_Silent_p.T199T	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	199	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CAGTTGGTACGCCTTATTACA	0.323												
HNRNPU	3192	broad.mit.edu	37	1	245025769	245025769	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:245025769C>G	uc001iaz.1	-	2	1089	c.871G>C	c.(871-873)Gat>Cat	p.D291H	HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.D272H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	291	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACAAGTATCAAGACAAACC	0.378												
FAM208B	54906	broad.mit.edu	37	10	5804609	5804609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:5804609G>A	uc001iij.3	+	20	7914	c.7289_splice	c.e20+1	p.W2430_splice	FAM208B_uc001iik.3_Splice_Site_p.W1274_splice	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	2430																	AGTAGCTATTGGTAAGAACAC	0.343												
MYO3A	53904	broad.mit.edu	37	10	26414537	26414537	+	Missense_Mutation	SNP	G	G	T	rs141374777		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:26414537G>T	uc001isn.2	+	19	2474	c.2114_splice	c.e19+1	p.S705_splice	MYO3A_uc009xko.1_Splice_Site_p.S705_splice|MYO3A_uc009xkp.1_Splice_Site|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	705	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCATCACCAAGGTAAAAATTT	0.338												
MPP7	143098	broad.mit.edu	37	10	28378639	28378639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:28378639G>A	uc001iua.1	-	13	1488	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Nonsense_Mutation_p.R362*|MPP7_uc009xla.2_Nonsense_Mutation_p.R362*|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	362					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R361Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTAGTTTGTCGCCGATACGGT	0.383												
RUFY2	55680	broad.mit.edu	37	10	70139220	70139220	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:70139220G>T	uc001job.3	-	11	1598	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joa.3_5'Flank|RUFY2_uc001joc.3_Missense_Mutation_p.T355N|RUFY2_uc010qiw.2_Missense_Mutation_p.T331N|RUFY2_uc001jod.1_Missense_Mutation_p.T389N	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	438						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338												
ZMIZ1	57178	broad.mit.edu	37	10	81058831	81058831	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:81058831T>G	uc001kaf.2	+	15	2263	c.1691T>G	c.(1690-1692)cTc>cGc	p.L564R	ZMIZ1_uc001kag.2_Missense_Mutation_p.L440R	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	564					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GAGCTGCGGCTCACATTCCCT	0.647												
MAPK8IP1	9479	broad.mit.edu	37	11	45923593	45923593	+	Silent	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:45923593A>T	uc001nbr.3	+	3	910	c.585A>T	c.(583-585)tcA>tcT	p.S195S		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	195	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	p.R194R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGTCTCGATCATCCTCACCCC	0.527												
DLAT	1737	broad.mit.edu	37	11	111899615	111899615	+	Silent	SNP	G	G	A	rs148153443		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:111899615G>A	uc001pmo.3	+	3	1265	c.606G>A	c.(604-606)tcG>tcA	p.S202S	DLAT_uc010rwr.2_Intron|DLAT_uc021qqn.1_Silent_p.S146S	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	202					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CCACTGCTTCGCCACCTACAC	0.532												
HTR3A	3359	broad.mit.edu	37	11	113857602	113857602	+	Silent	SNP	C	C	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857602C>A	uc010rxb.2	+	6	1319	c.1086C>A	c.(1084-1086)atC>atA	p.I362I	HTR3A_uc010rxa.2_Silent_p.I330I|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.I309I	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	324					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCGAGACCATCTTCATTGTGC	0.582												
HTR3A	3359	broad.mit.edu	37	11	113857614	113857614	+	Silent	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857614G>C	uc010rxb.2	+	6	1331	c.1098G>C	c.(1096-1098)cgG>cgC	p.R366R	HTR3A_uc010rxa.2_Silent_p.R334R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R313R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	328					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCATTGTGCGGCTGGTGCACA	0.572												
APOA5	116519	broad.mit.edu	37	11	116661604	116661604	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:116661604G>A	uc009yzg.3	-	1	851	c.419C>T	c.(418-420)gCg>gTg	p.A140V	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.A114V|APOA5_uc009yzf.3_Missense_Mutation_p.A114V			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	114					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGCTCGTGCGCCTCTGCCAT	0.662												
GRIP1	23426	broad.mit.edu	37	12	66786170	66786170	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:66786170C>T	uc001stk.3	-	17	2467	c.2226G>A	c.(2224-2226)atG>atA	p.M742I	GRIP1_uc010sta.1_Missense_Mutation_p.M686I|GRIP1_uc001stj.3_Missense_Mutation_p.M524I|GRIP1_uc001stm.3_Missense_Mutation_p.M742I|GRIP1_uc001stl.1_Missense_Mutation_p.M634I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	794	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGAGGGGTACATGTCGGAGA	0.537												
GOLGA3	2802	broad.mit.edu	37	12	133381337	133381337	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:133381337T>A	uc001ukz.1	-	6	2121	c.1562A>T	c.(1561-1563)gAc>gTc	p.D521V	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.D521V|GOLGA3_uc001ulb.3_Missense_Mutation_p.D521V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	521					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTCTGCATGTCCTCTACCTT	0.607												
BRCA2	675	broad.mit.edu	37	13	32914389	32914389	+	Missense_Mutation	SNP	A	A	G	rs80358823		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:32914389A>G	uc001uub.1	+	10	6124	c.5897A>G	c.(5896-5898)cAt>cGt	p.H1966R		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1966					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGGAAGCTTCATAAGTCAGTC	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
SLITRK6	84189	broad.mit.edu	37	13	86370282	86370282	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:86370282T>G	uc001vll.1	-	1	821	c.362A>C	c.(361-363)cAc>cCc	p.H121P	SLITRK6_uc021rla.1_Missense_Mutation_p.H121P	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	121						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAAAGAATTGTGATTGATATG	0.353												
SALL2	6297	broad.mit.edu	37	14	21991030	21991030	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:21991030G>T	uc001wbe.3	-	1	3114	c.2832C>A	c.(2830-2832)ttC>ttA	p.F944L	SALL2_uc010tly.2_Missense_Mutation_p.F942L|SALL2_uc010tlz.1_Missense_Mutation_p.F807L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F809L|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	944							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTGCCTGCAGAAAACACAAG	0.597												
ACIN1	22985	broad.mit.edu	37	14	23531439	23531439	+	Missense_Mutation	SNP	C	C	T	rs138390500	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:23531439C>T	uc001wit.4	-	15	3539	c.3211G>A	c.(3211-3213)Ggg>Agg	p.G1071R	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.G313R|ACIN1_uc001wiq.4_Missense_Mutation_p.G313R|ACIN1_uc001wir.4_Missense_Mutation_p.G344R|ACIN1_uc001wis.4_Missense_Mutation_p.G752R|ACIN1_uc010akg.3_Missense_Mutation_p.G1058R|ACIN1_uc010tnj.2_Missense_Mutation_p.G1031R	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1071					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.G1071W(2)|p.G344W(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CATTTGACCCCGTGCAGAGCT	0.552												
RPAP1	26015	broad.mit.edu	37	15	41819389	41819389	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:41819389C>T	uc001zod.3	-	12	1846	c.1722G>A	c.(1720-1722)cgG>cgA	p.R574R		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	574						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGGGAATGCCGGGCCAGGC	0.612												
SECISBP2L	9728	broad.mit.edu	37	15	49325161	49325161	+	Splice_Site	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325161C>G	uc001zxe.2	-	4	928	c.664_splice	c.e4+1	p.D222_splice	SECISBP2L_uc001zxd.2_Splice_Site_p.D222_splice|SECISBP2L_uc010bep.2_Splice_Site|SECISBP2L_uc010beq.2_Intron	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	222										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTTGCCTTACCAGTTTGCTG	0.393												
SECISBP2L	9728	broad.mit.edu	37	15	49325180	49325180	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325180C>G	uc001zxe.2	-	3	910	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SECISBP2L_uc001zxd.2_Missense_Mutation_p.D216H|SECISBP2L_uc010bep.2_5'UTR|SECISBP2L_uc010beq.2_Intron	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	216										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGTGAAGCATCTACCAGAAGC	0.398												
FBXO22	26263	broad.mit.edu	37	15	76225151	76225151	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:76225151A>G	uc002bbk.3	+	6	1025	c.920A>G	c.(919-921)cAg>cGg	p.Q307R	FBXO22_uc002bbl.3_Missense_Mutation_p.Q203R|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	307					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCTGCGATGCAGCGCCTCAAA	0.527												
TSC2	7249	broad.mit.edu	37	16	2138318	2138318	+	Missense_Mutation	SNP	C	C	T	rs137854397		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:2138318C>T	uc002con.3	+	40	5357	c.5251C>T	c.(5251-5253)Cgc>Tgc	p.R1751C	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.R1728C|TSC2_uc002coo.3_Missense_Mutation_p.R1684C|TSC2_uc010uvv.2_Missense_Mutation_p.R1648C|TSC2_uc010uvw.2_Missense_Mutation_p.R1636C|TSC2_uc002cop.3_Missense_Mutation_p.R1507C|TSC2_uc002coq.3_Missense_Mutation_p.R526C	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1751	Rap-GAP.		Missing (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAAGCGGCTCCGCCAGCGGGT	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis			
RRAD	6236	broad.mit.edu	37	16	66957423	66957424	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:66957423_66957424CA>AC	uc002eqn.2	-	3	796_797	c.644_645TG>GT	c.(643-645)gtg>gGT	p.V215G	RRAD_uc002eqo.2_Missense_Mutation_p.V215G	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	215					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ACTCACCATCCACCGAGACCTC	0.634												
ACADVL	37	broad.mit.edu	37	17	7125285	7125285	+	Missense_Mutation	SNP	G	G	A	rs140629318		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7125285G>A	uc002gev.3	+	7	788	c.637G>A	c.(637-639)Gct>Act	p.A213T	DLG4_uc002get.4_5'Flank|DLG4_uc010vto.2_5'Flank|ACADVL_uc010vtp.2_Missense_Mutation_p.A223T|ACADVL_uc010vtq.1_Missense_Mutation_p.A259T|ACADVL_uc002gew.3_Missense_Mutation_p.A191T|ACADVL_uc002gex.3_Missense_Mutation_p.A137T	NM_000018	NP_000009	P49748	ACADV_HUMAN	Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213	Catalytic.		A -> P (in ACADVLD).		energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GACTGTGGCCGCTTTCTGTCT	0.572												
TP53	7157	broad.mit.edu	37	17	7577149	7577149	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7577149delA	uc002gim.2	-	7	983	c.789delT	c.(787-789)aatfs	p.N263fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.N263fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.N131fs|TP53_uc010cnf.1_Frame_Shift_Del_p.N131fs|TP53_uc002gii.1_Frame_Shift_Del_p.N131fs|TP53_uc010cni.1_Frame_Shift_Del_p.N263fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N263fs|TP53_uc002gij.2_Frame_Shift_Del_p.N263fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	263	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G262V(15)|p.0?(8)|p.G262fs*83(5)|p.G262_F270delGNLLGRNSF(4)|p.G262D(4)|p.G262_S269delGNLLGRNS(4)|p.?(3)|p.N263fs*82(3)|p.N263D(2)|p.N263K(2)|p.N263H(2)|p.N263I(2)|p.G262del(2)|p.G262S(2)|p.S261_L264>R(2)|p.N263fs*5(2)|p.G262fs*2(2)|p.G262H(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_G262insX(1)|p.N263fs*84(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCCCAGTAGATTACCACTAC	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
SLC13A2	9058	broad.mit.edu	37	17	26823547	26823547	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:26823547T>C	uc010wan.2	+	10	1764	c.1697T>C	c.(1696-1698)gTg>gCg	p.V566A	SLC13A2_uc010wam.2_Missense_Mutation_p.V473A|SLC13A2_uc002hbh.3_Missense_Mutation_p.V517A|SLC13A2_uc010wao.2_Missense_Mutation_p.V474A|SLC13A2_uc002hbi.3_Missense_Mutation_p.V446A	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	517						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATGTTGCCTGTGGCCACCCCG	0.617												
MYO18A	399687	broad.mit.edu	37	17	27424842	27424842	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:27424842C>T	uc002hdt.1	-	25	4224	c.4066G>A	c.(4066-4068)Gcg>Acg	p.A1356T	MYO18A_uc010wbc.1_Missense_Mutation_p.A898T|MYO18A_uc002hds.2_Missense_Mutation_p.A898T|MYO18A_uc010csa.1_Missense_Mutation_p.A1356T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1356T|MYO18A_uc010wbd.1_Missense_Mutation_p.A1025T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1356					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGATCTCCGCTGCCCGGATG	0.602												
SUZ12	23512	broad.mit.edu	37	17	30320320	30320320	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:30320320G>A	uc002hgs.2	+	10	1483	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	SUZ12_uc002hgt.2_Missense_Mutation_p.E398K	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	421					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TACTCCAAATGAAAACCGACA	0.264			T	JAZF1	endometrial stromal tumours							
GNGT2	2793	broad.mit.edu	37	17	47284162	47284162	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:47284162T>C	uc002ioo.2	-	3	474	c.167A>G	c.(166-168)gAc>gGc	p.D56G	GNGT2_uc021tzo.1_Missense_Mutation_p.D56G|GNGT2_uc021tzp.1_Missense_Mutation_p.D56G|GNGT2_uc021tzq.1_Missense_Mutation_p.D56G	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	56					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGGATTCTTGTCCTCAGGGAT	0.507												
WIPI1	55062	broad.mit.edu	37	17	66417949	66417949	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:66417949G>A	uc010dey.3	-	12	1397	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	WIPI1_uc010wqo.2_Missense_Mutation_p.R354C	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	436					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGATTTCCACGGCACAAGATT	0.468												
CLUL1	27098	broad.mit.edu	37	18	633305	633305	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:633305C>A	uc010wys.2	+	7	1254	c.1020C>A	c.(1018-1020)gaC>gaA	p.D340E	CLUL1_uc002kkp.3_Missense_Mutation_p.D288E|CLUL1_uc002kkq.3_Missense_Mutation_p.D288E	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	288					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TAGCTCCTGACCACGGAGGCC	0.428												
TCEB3C	162699	broad.mit.edu	37	18	44554624	44554624	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:44554624C>T	uc010xdb.2	-	0	1826	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TGGCCATCAGCGGGGCCACTT	0.632												
SLC39A3	29985	broad.mit.edu	37	19	2733097	2733097	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:2733097G>A	uc010xgy.1	-	2	851	c.597C>T	c.(595-597)agC>agT	p.S199S	SLC39A3_uc002lwg.3_Silent_p.S199S	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	199						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGAACAGGCTCACCACTT	0.716												
OR2Z1	284383	broad.mit.edu	37	19	8841547	8841547	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:8841547T>C	uc010xkg.2	+	0	157	c.157T>C	c.(157-159)Tcc>Ccc	p.S53P		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCGTGTGGACTCCCGGCTCCA	0.542												
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:12187394T>C	uc002mtb.2	+	3	1602	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_uc010dym.1_Missense_Mutation_p.F330L	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F487L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448												
CIC	23152	broad.mit.edu	37	19	42795881	42795881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:42795881delC	uc002otf.1	+	10	2910	c.2870delC	c.(2869-2871)gccfs	p.A957fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	957	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGAATGGTGCCCAGCCCCCC	0.602			"""Mis, F, S"""		oligodendroglioma							
GPR4	2828	broad.mit.edu	37	19	46094298	46094298	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:46094298C>T	uc002pcm.3	-	1	1772	c.827G>A	c.(826-828)aGc>aAc	p.S276N	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.S276N	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	276						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACAGTTGAGGCTGGTGAAAGC	0.647												
ARHGAP35	2909	broad.mit.edu	37	19	47503900	47503901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:47503900_47503901insC	uc010ekv.3	+	5	4455_4456	c.4455_4456insC	c.(4453-4458)atgcagfs	p.M1485fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	1485	Pro-rich.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGTCCCCAATGCAGCCACTGCT	0.649												
ZNF71	58491	broad.mit.edu	37	19	57132720	57132721	+	Frame_Shift_Ins	INS	-	-	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:57132720_57132721insG	uc002qnm.4	+	2	303_304	c.65_66insG	c.(64-66)acgfs	p.T22fs	ZNF71_uc021vcg.1_Frame_Shift_Ins_p.T22fs	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	22						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGGAGGCCACGGGGGGACCCA	0.554												
ATP6V1C2	245973	broad.mit.edu	37	2	10912727	10912727	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:10912727G>A	uc002ras.3	+	7	738	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	ATP6V1C2_uc002rat.3_Missense_Mutation_p.R210Q	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	210					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.P209P(1)|p.R210R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GTGGTCCCTCGATCAACCAAG	0.507												
TET3	200424	broad.mit.edu	37	2	74328397	74328397	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:74328397C>T	uc002skb.4	+	8	4077	c.4077C>T	c.(4075-4077)ccC>ccT	p.P1359P		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1359							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P1359P(2)|p.P636P(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTGTTCCCCGGTGAGGGGC	0.657												
RANBP2	5903	broad.mit.edu	37	2	109388156	109388156	+	Splice_Site	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:109388156G>A	uc002tem.4	+	21	7976	c.7850_splice	c.e21-1	p.A2617_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2617					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGTGTTACAGCAAAAGAGAA	0.348												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
SCLY	51540	broad.mit.edu	37	2	239002554	239002554	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:239002554A>T	uc010fyv.3	+	8	1105	c.974A>T	c.(973-975)gAc>gTc	p.D325V	SCLY_uc002vxm.4_Missense_Mutation_p.D292V|SCLY_uc010znr.2_Missense_Mutation_p.D231V|SCLY_uc010znq.2_Missense_Mutation_p.D119V	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	325					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CACATGAGGGACGTCCGCGAC	0.622												
SPTLC3	55304	broad.mit.edu	37	20	13052999	13052999	+	Silent	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:13052999C>G	uc002wod.1	+	2	688	c.399C>G	c.(397-399)gcC>gcG	p.A133A		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	133					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCTGCAGTGCCCCAGGGCCTC	0.438												
ZNF831	128611	broad.mit.edu	37	20	57829379	57829379	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:57829379G>A	uc002yan.3	+	4	4615	c.4615G>A	c.(4615-4617)Gca>Aca	p.A1539T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1539						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGGGCAGAGCACAGACCCT	0.498												
STAB1	23166	broad.mit.edu	37	3	52536060	52536060	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:52536060G>A	uc003dej.3	+	3	444	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	STAB1_uc003dei.1_Missense_Mutation_p.G124R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	124	EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAATGGCCACGGGACCTGCTT	0.637												
MINA	84864	broad.mit.edu	37	3	97664110	97664110	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:97664110T>C	uc003drz.1	-	9	1822	c.1316A>G	c.(1315-1317)aAg>aGg	p.K439R	MINA_uc003dsa.1_Missense_Mutation_p.K438R|MINA_uc003dsb.1_Missense_Mutation_p.K439R|MINA_uc003dsc.1_Missense_Mutation_p.K438R	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	439					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TTTCAGGTCCTTGACAGAAAT	0.383												
EAF2	55840	broad.mit.edu	37	3	121554141	121554141	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:121554141C>A	uc003een.3	+	0	108	c.9C>A	c.(7-9)agC>agA	p.S3R	IQCB1_uc010hrf.1_5'Flank|IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|EAF2_uc003eem.3_Non-coding_Transcript|EAF2_uc003eeo.3_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	3					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTATGAATAGCGCAGCGGGAT	0.572												
CLSTN2	64084	broad.mit.edu	37	3	140281698	140281698	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:140281698G>A	uc003etn.3	+	13	2448	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	753					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATCACATCCGCTACCGCAAC	0.552										HNSCC(16;0.037)		
LRRIQ4	344657	broad.mit.edu	37	3	169555374	169555374	+	Silent	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:169555374A>G	uc003fgb.3	+	4	1638	c.1638A>G	c.(1636-1638)ggA>ggG	p.G546G		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	546								p.K545K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATAAGAAAGGAAAGAAGGATG	0.363												
SLC7A14	57709	broad.mit.edu	37	3	170219101	170219101	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:170219101G>A	uc003fgz.2	-	2	654	c.338C>T	c.(337-339)cCc>cTc	p.P113L	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	113						integral to membrane	amino acid transmembrane transporter activity	p.V112V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGTGGTCTTGGGGACTCGAAC	0.507												
CSF2	1437	broad.mit.edu	37	5	131409784	131409784	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:131409784T>C	uc003kwf.3	+	1	202	c.170T>C	c.(169-171)gTa>gCa	p.V57A		NM_000758	NP_000749	P04141	CSF2_HUMAN	Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	57					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	AATGAAACAGTAGAAGTCATC	0.517												
PDE6A	5145	broad.mit.edu	37	5	149323959	149323959	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:149323959C>T	uc003lrg.4	-	0	398	c.278G>A	c.(277-279)cGc>cAc	p.R93H	PDE6A_uc021yfs.1_Missense_Mutation_p.R93H	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	93	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGGCTCATGCGGTCTGCCTG	0.522												
SOX30	11063	broad.mit.edu	37	5	157065654	157065654	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:157065654G>A	uc003lxb.1	-	3	1806	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.S183S	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	488					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGGAGACGCTGGGCTGGA	0.532												
GMCL1P1	64396	broad.mit.edu	37	5	177612831	177612831	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:177612831G>T	uc003mit.1	-	0	1603	c.1470C>A	c.(1468-1470)aaC>aaA	p.N490K						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		TGCTGTCCAAGTTCATCACCA	0.358												
FARS2	10667	broad.mit.edu	37	6	5613545	5613545	+	Silent	SNP	A	A	T	rs147628137		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:5613545A>T	uc010jnv.1	+	5	1545	c.1209A>T	c.(1207-1209)gtA>gtT	p.V403V	FARS2_uc003mwr.2_Silent_p.V403V	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	403	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ACAAGTTTGTACATCCAAAGT	0.393												
MDC1	9656	broad.mit.edu	37	6	30680501	30680501	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:30680501G>A	uc003nrg.4	-	4	1658	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	MDC1_uc003nrf.4_Silent_p.D60D|MDC1_uc011dmp.1_Silent_p.D278D|MDC1_uc003nrh.1_Silent_p.D278D|MDC1_uc003nri.2_Silent_p.D406D	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	406	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTCTTCCTCGTCATCTGTAT	0.522								Other conserved DNA damage response genes				
LTA	4049	broad.mit.edu	37	6	31540609	31540609	+	Silent	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:31540609T>C	uc011dnu.1	+	1	303	c.90T>C	c.(88-90)ccT>ccC	p.P30P	LTA_uc003nue.1_Silent_p.P30P|LTA_uc003nuf.3_5'Flank|LTA_uc003nuh.3_5'Flank|LTA_uc003nug.3_5'Flank|LTA_uc010jsr.3_5'Flank|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	30					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TTCTGCTGCCTGGGGCCCAGG	0.632												
GRM4	2914	broad.mit.edu	37	6	34003985	34003985	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:34003985G>A	uc003oir.4	-	7	2265	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	GRM4_uc011dsn.2_Silent_p.F587F|GRM4_uc010jvh.3_Silent_p.F634F|GRM4_uc010jvi.3_Silent_p.F326F|GRM4_uc003oio.3_Silent_p.F326F|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.F494F|GRM4_uc003oiq.3_Silent_p.F501F|GRM4_uc011dsm.2_Silent_p.F465F	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	634					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CATAGCACAGGAAGATGCCTG	0.592												
LAMA2	3908	broad.mit.edu	37	6	129663557	129663557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:129663557G>T	uc021zfb.1	+	29	4486	c.4381G>T	c.(4381-4383)Gga>Tga	p.G1461*	LAMA2_uc003qbn.3_Nonsense_Mutation_p.G1461*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.G1461*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1461	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.K1460K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTGTCAAGGGATTGCCAAA	0.403												
HIVEP2	3097	broad.mit.edu	37	6	143093267	143093267	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:143093267T>C	uc003qjd.3	-	4	3352	c.2609A>G	c.(2608-2610)cAg>cGg	p.Q870R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACTGCTGCTGCACCTGCTG	0.557												
ARID1B	57492	broad.mit.edu	37	6	157488293	157488293	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:157488293C>T	uc003qqp.3	+	8	2960	c.2960C>T	c.(2959-2961)gCg>gTg	p.A987V	ARID1B_uc003qqo.3_Missense_Mutation_p.A1000V|ARID1B_uc003qqn.3_Missense_Mutation_p.A987V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	987					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACAGCATGGCGCCCGCCATG	0.597												
ITGB8	3696	broad.mit.edu	37	7	20420296	20420296	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:20420296A>G	uc003suu.3	+	4	1348	c.643A>G	c.(643-645)Aat>Gat	p.N215D	ITGB8_uc011jyh.2_Missense_Mutation_p.N80D|ITGB8_uc003sut.3_Missense_Mutation_p.N215D	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	215	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTGACTACAATTTAGACTG	0.388												
MTERF	7978	broad.mit.edu	37	7	91503603	91503603	+	Missense_Mutation	SNP	G	G	A	rs148973867		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:91503603G>A	uc003ulc.1	-	2	581	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.R149W|MTERF_uc010leu.1_Missense_Mutation_p.R149W	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	169	Interaction with DNA.				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTATTGGACCGAAAAAAGGAT	0.398												
ORC5	5001	broad.mit.edu	37	7	103835638	103835638	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:103835638G>T	uc003vcb.3	-	4	649	c.506C>A	c.(505-507)aCt>aAt	p.T169N	ORC5_uc011klp.2_Missense_Mutation_p.T37N|ORC5_uc003vcc.3_Missense_Mutation_p.T169N	NM_002553	NP_002544	O43913	ORC5_HUMAN	Homo sapiens origin recognition complex, subunit 5 (ORC5), transcript variant 1, mRNA.	169					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAAGCATCCAGTATTTGGACG	0.343												
STAR	6770	broad.mit.edu	37	8	38005844	38005844	+	Silent	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:38005844A>G	uc003xkv.1	-	3	443	c.179_splice	c.e3-1	p.G60_splice		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	60					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		CTAGCCGAGAACCTGGATACA	0.577												
GDF6	392255	broad.mit.edu	37	8	97157751	97157751	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:97157751G>C	uc003yhp.3	-	2	507	c.407_splice	c.e2-1	p.D136_splice		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	136					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCGAGAGATCGTCTGCGAGAT	0.557												
IFNW1	3467	broad.mit.edu	37	9	21141019	21141019	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141019C>G	uc003zol.1	-	0	1126	c.551G>C	c.(550-552)aGa>aCa	p.R184T		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	184					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACTTCTCAGTCTTTCTTGCAT	0.383												
IFNW1	3467	broad.mit.edu	37	9	21141108	21141108	+	Silent	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141108C>G	uc003zol.1	-	0	1037	c.462G>C	c.(460-462)ctG>ctC	p.L154L		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	154					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCTTTCAGGTAGACAC	0.473												
TMEM2	23670	broad.mit.edu	37	9	74324239	74324239	+	Missense_Mutation	SNP	C	C	T	rs147272925	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:74324239C>T	uc011lsa.1	-	16	3461	c.2921G>A	c.(2920-2922)cGc>cAc	p.R974H	TMEM2_uc010mos.2_Missense_Mutation_p.R911H|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	974						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTTGGATGGCGGATCAGGTA	0.448												
ZNF618	114991	broad.mit.edu	37	9	116811982	116811982	+	Silent	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:116811982G>T	uc004bid.3	+	14	2499	c.2400G>T	c.(2398-2400)ccG>ccT	p.P800P	ZNF618_uc004bic.3_Silent_p.P707P|ZNF618_uc011lxi.2_Silent_p.P767P|ZNF618_uc011lxj.2_Silent_p.P768P|ZNF618_uc010mvb.3_Silent_p.P390P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGCACCCGGCCCACAAGG	0.612												
DEC1	50514	broad.mit.edu	37	9	118162691	118162691	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:118162691C>G	uc004bjk.1	+	5	586	c.67C>G	c.(67-69)Ctt>Gtt	p.L23V	DEC1_uc004bjl.1_Intron	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN	Homo sapiens deleted in esophageal cancer 1 (DEC1), mRNA.	23					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						tgagggccttcttgccgtgtt	0.453												
ASTN2	23245	broad.mit.edu	37	9	119204775	119204775	+	Silent	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:119204775G>T	uc004bjt.2	-	19	3503	c.3402C>A	c.(3400-3402)acC>acA	p.T1134T	ASTN2_uc022bml.1_Silent_p.T830T|ASTN2_uc022bmm.1_Silent_p.T834T|ASTN2_uc004bjp.2_Silent_p.T286T|ASTN2_uc011lxr.2_Silent_p.T237T|ASTN2_uc011lxs.2_Silent_p.T237T|ASTN2_uc011lxt.2_Silent_p.T237T|ASTN2_uc004bjq.2_Silent_p.T237T	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1185	Fibronectin type-III.					integral to membrane		p.T1134I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGTCCTCAGGGTCACCGTGC	0.512												
GLT6D1	360203	broad.mit.edu	37	9	138517954	138517954	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:138517954C>T	uc010nbd.1	-	3	472	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	73					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTGATATTCCGCCTTCTGTA	0.498												
MAGEB16	139604	broad.mit.edu	37	X	35820799	35820799	+	Silent	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:35820799A>G	uc010ngt.1	+	1	765	c.486A>G	c.(484-486)ctA>ctG	p.L162L	MAGEB16_uc022bus.1_Silent_p.L162L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	162	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGAGCACCTAGAGATGATAT	0.468												
WDR13	64743	broad.mit.edu	37	X	48458765	48458765	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:48458765C>T	uc004dkj.2	+	4	1087	c.582C>T	c.(580-582)gaC>gaT	p.D194D	WDR13_uc004dkk.2_Silent_p.D102D|WDR13_uc004dkl.4_Silent_p.D102D|WDR13_uc011mme.2_Silent_p.D72D	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	194						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCTCACTCGACGGCAGCATCT	0.632												
ATRX	546	broad.mit.edu	37	X	76875916	76875916	+	Nonsense_Mutation	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:76875916G>C	uc004ecp.4	-	19	5451	c.5219C>G	c.(5218-5220)tCa>tGa	p.S1740*	ATRX_uc004ecq.4_Nonsense_Mutation_p.S1702*|ATRX_uc004eco.4_Nonsense_Mutation_p.S1525*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1740	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.S1740*(3)|p.R1739*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTCCTCCTTGATCGTATAGA	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome