Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF618	114991	broad.mit.edu	37	9	116812025	116812025	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:116812025C>T	ENST00000288466.7	+	14	2263	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.R815W	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCAGAAGCTGCGGCCTGTGCC	0.627000													4	102					0	0	0.014758	0	0
SCD5	79966	broad.mit.edu	37	4	83557863	83557863	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr4:83557863T>C	ENST00000319540.4	-	4	1002	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	228					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGATGGTATAGCGGAGAAT	0.562000													7	66					0	0	0.001984	0	0
ANKRD46	157567	broad.mit.edu	37	8	101534835	101534835	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:101534835T>A	ENST00000520311.1	-	5	1438	c.635A>T	c.(634-636)tAt>tTt	p.Y212F	ANKRD46_ENST00000519316.1_Missense_Mutation_p.Y159F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.Y212F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.Y212F|ANKRD46_ENST00000520552.1_Splice_Site_p.Y212F	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	212						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CCCACTCACATAATAAGCAAT	0.488000													11	71					0	0	0.010729	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	30					0	0	0.004672	0	0
HERC1	8925	broad.mit.edu	37	15	63901366	63901366	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:63901366T>C	ENST00000443617.2	-	78	14587	c.14500A>G	c.(14500-14502)Atc>Gtc	p.I4834V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4834	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAGTTGTTGATGGCATAGCGC	0.602000													7	30					0	0	0.006214	0	0
LAMA1	284217	broad.mit.edu	37	18	7036073	7036073	+	Silent	SNP	G	G	A	rs138401018	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr18:7036073G>A	ENST00000389658.3	-	13	1845	c.1752C>T	c.(1750-1752)ggC>ggT	p.G584G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	584	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGAATCCGCCAAACGCAG	0.453000													4	53					0	0	0.001168	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261086	21261086	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:21261086A>G	ENST00000311620.5	+	2	272	c.199A>G	c.(199-201)Act>Gct	p.T67A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	67										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGGGGAAACACTCCTCTACA	0.463000													8	85					0	0	0.004482	0	0
TCOF1	6949	broad.mit.edu	37	5	149755650	149755650	+	Silent	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:149755650A>G	ENST00000451292.1	+	13	2007	c.1899A>G	c.(1897-1899)aaA>aaG	p.K633K	TCOF1_ENST00000504761.2_Silent_p.K633K|TCOF1_ENST00000377797.3_Silent_p.K633K|TCOF1_ENST00000439160.2_Silent_p.K633K|TCOF1_ENST00000394269.3_Silent_p.K633K|TCOF1_ENST00000445265.2_Silent_p.K556K|TCOF1_ENST00000513346.1_Silent_p.K633K|TCOF1_ENST00000323668.7_Silent_p.K556K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	633					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAGGCAAAACCAGCTCTGA	0.572000													16	223					0	0	0.004007	0	0
BNIP1	662	broad.mit.edu	37	5	172578699	172578699	+	Splice_Site	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:172578699T>C	ENST00000231668.9	+	3	410		c.e3+2		BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Splice_Site|BNIP1_ENST00000393770.4_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTTCAGTGTGAGTATTTGT	0.368000													3	111					0	0	0.014758	0	0
GTF2E1	2960	broad.mit.edu	37	3	120489647	120489647	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:120489647G>A	ENST00000283875.5	+	3	614	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	174					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAGATGCACGCACACTTTTG	0.423000													50	330					0	0	0.014410	0	0
CIC	23152	broad.mit.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000575354.2_Missense_Mutation_p.R1515C|CIC_ENST00000160740.3_Missense_Mutation_p.R1513C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					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)				CCGTGAGGTGCGCCAGAAGAT	0.632000			"""Mis, F, S"""		oligodendroglioma								8	60					0	0	0.004482	0	0
ZMYM2	7750	broad.mit.edu	37	13	20638648	20638648	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr13:20638648A>G	ENST00000382869.3	+	19	3346	c.3095A>G	c.(3094-3096)gAa>gGa	p.E1032G	ZMYM2_ENST00000382871.2_Missense_Mutation_p.E1032G|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E1032G	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1032					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTTGGCGAAGAATATGAGGAA	0.343000													3	8					0	0	0.009096	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412675	139412675	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:139412675T>C	ENST00000277541.6	-	7	1244	c.1169A>G	c.(1168-1170)aAc>aGc	p.N390S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	390	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N390S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATTGACAGGGTTGGTGTCGCA	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	18					0	0	0.014758	0	0
LINC01239	441389	broad.mit.edu	37	9	22823377	22823377	+	RNA	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:22823377A>G	ENST00000436786.1	+	0	1512					NR_038977.1																						tcccacattaatgacatcaaa	0.527000													3	58					0	0	0.004672	0	0
GID4	79018	broad.mit.edu	37	17	17948505	17948505	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:17948505T>G	ENST00000268719.4	+	2	656	c.483T>G	c.(481-483)atT>atG	p.I161M	GID4_ENST00000376345.3_Missense_Mutation_p.I161M	NM_024052.4	NP_076957.3			GID complex subunit 4																		ACTTGAAGATTAAAGGCCTTA	0.483000													13	90					0	0	0.006122	0	0
MDN1	23195	broad.mit.edu	37	6	90428622	90428622	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr6:90428622A>G	ENST00000369393.3	-	42	6300	c.6185T>C	c.(6184-6186)gTc>gCc	p.V2062A	MDN1_ENST00000428876.1_Missense_Mutation_p.V2062A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2062					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACCAGGATGACCATCCAGCT	0.562000													3	102					0	0	0.004672	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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	0.393000			Mis		gliobastoma								29	66					0	0	0.012213	0	0
COL1A1	1277	broad.mit.edu	37	17	48264128	48264128	+	Silent	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:48264128G>A	ENST00000225964.5	-	48	3805	c.3687C>T	c.(3685-3687)ctC>ctT	p.L1229L		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1229	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGTCCACCTCGAGGTCACGGT	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						11	284					0	0	0.013537	0	0
CSRNP2	81566	broad.mit.edu	37	12	51470329	51470329	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:51470329C>T	ENST00000228515.1	-	2	313	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	6					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGACCCGAGCCCGTGAATGCA	0.522000													9	153					0	0	0.006214	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95119548	95119548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:95119548C>T	ENST00000379982.3	+	10	2012	c.1504C>T	c.(1504-1506)Caa>Taa	p.Q502*	RHOBTB3_ENST00000504179.1_Nonsense_Mutation_p.Q133*|GLRX_ENST00000507605.1_Intron|GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	502	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CGAGATGTACCAAGTGTCCAG	0.468000													14	197					0	0	0.007413	0	0
OR1S2	219958	broad.mit.edu	37	11	57970708	57970708	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:57970708T>C	ENST00000302592.6	-	1	945	c.946A>G	c.(946-948)Aag>Gag	p.K316E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTGATGAGCTTTCTCAGGGCA	0.413000													5	221					0	0	0.010729	0	0
HERC2	8924	broad.mit.edu	37	15	28389059	28389059	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28389059T>C	ENST00000261609.7	-	74	11486	c.11378A>G	c.(11377-11379)aAt>aGt	p.N3793S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3793					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCAGCCTATTTATGTTAAT	0.423000													5	138					0	0	0.014758	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798086	55798086	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:55798086C>G	ENST00000313555.1	+	1	192	c.192C>G	c.(190-192)agC>agG	p.S64R		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATTTTCTTAGCAACTTATCTT	0.348000													7	57					0	0	0.001984	0	0
IGLV1-50	28821	broad.mit.edu	37	22	22682036	22682036	+	RNA	SNP	G	G	A	rs113036480		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr22:22682036G>A	ENST00000390291.2	+	0	269																											TATGGTAACAGCAATCGGCCC	0.567000													5	370					0	0	0.001168	0	0
HERC2	8924	broad.mit.edu	37	15	28460828	28460828	+	Missense_Mutation	SNP	G	G	A	rs140060040	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28460828G>A	ENST00000261609.7	-	39	6257	c.6149C>T	c.(6148-6150)aCg>aTg	p.T2050M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2050					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGAGCAGCGTGATCCACTG	0.632000													12	16					0	0	0.013537	0	0
PDGFD	80310	broad.mit.edu	37	11	103870852	103870852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:103870852G>A	ENST00000302251.5	-	2	689	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	PDGFD_ENST00000393158.2_Nonsense_Mutation_p.Q86*	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	86	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTATTCTCCTGAGAGTGAAGC	0.458000													14	202					0	0	0.020292	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557000													18	76					0	0	0.004990	0	0
TMEM104	54868	broad.mit.edu	37	17	72832630	72832630	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:72832630G>A	ENST00000335464.5	+	10	1457	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G432D|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	432						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCGGGCACCGGCATCCAGTAC	0.652000													4	49					0	0	0.014758	0	0
RDX	5962	broad.mit.edu	37	11	110134885	110134885	+	Silent	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:110134885A>C	ENST00000343115.4	-	5	586	c.267T>G	c.(265-267)gtT>gtG	p.V89V	RDX_ENST00000405097.1_Silent_p.V89V|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Silent_p.V89V|RDX_ENST00000544551.1_Intron|RDX_ENST00000530301.1_Silent_p.V57V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	89	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		ATTCCTCAGAAACATCTTCAG	0.343000													7	56					0	0	0.003080	0	0
GPAT2	150763	broad.mit.edu	37	2	96691942	96691942	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:96691942A>G	ENST00000434632.1	-	12	1603	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L|GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	382					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGCAGGGAAAAGGGCTGAGCT	0.647000													3	81					0	0	0.004672	0	0
UGT1A6	54578	broad.mit.edu	37	2	234681041	234681041	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:234681041G>A	ENST00000305139.6	+	5	1574	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	UGT1A1_ENST00000609637.1_Missense_Mutation_p.D477N|UGT1A1_ENST00000608381.1_Missense_Mutation_p.D481N|UGT1A7_ENST00000373426.3_Missense_Mutation_p.D477N|UGT1A8_ENST00000305208.5_Missense_Mutation_p.D480N|UGT1A1_ENST00000609767.1_Missense_Mutation_p.D481N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D477N|UGT1A6_ENST00000373424.1_Missense_Mutation_p.D212N|UGT1A1_ENST00000608383.1_Missense_Mutation_p.D480N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D481N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D481N|UGT1A1_ENST00000373450.4_Missense_Mutation_p.D477N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D477N|UGT1A3_ENST00000482026.1_Missense_Mutation_p.D481N	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CGCAGCCCACGACCTCACCTG	0.597000													5	224					0	0	0.001168	0	0
MED7	9443	broad.mit.edu	37	5	156566369	156566369	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:156566369T>C	ENST00000286317.5	-	2	455	c.74A>G	c.(73-75)aAt>aGt	p.N25S	MED7_ENST00000420343.1_Missense_Mutation_p.N25S	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	25					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTTGAATATTTTCATCCGT	0.438000													10	85					0	0	0.006214	0	0
C3orf30	152405	broad.mit.edu	37	3	118870125	118870125	+	Silent	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:118870125C>T	ENST00000295622.1	+	3	1637	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	533										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GAATTTTATGCTGTGCCAGGT	0.363000													4	283					0	0	0.014758	0	0
FSD1	79187	broad.mit.edu	37	19	4311913	4311913	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:4311913C>T	ENST00000221856.6	+	7	712	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.P189S	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	189	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCATGCCGGATGAGGA	0.632000													4	81					0	0	0.014758	0	0
GPR87	53836	broad.mit.edu	37	3	151012049	151012049	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:151012049A>T	ENST00000260843.4	-	3	1449	c.985T>A	c.(985-987)Tca>Aca	p.S329T	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	329						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGATATTTGATTTTTTGAAC	0.358000													7	163					0	0	0.001984	0	0
CEP170B	283638	broad.mit.edu	37	14	105353382	105353382	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr14:105353382G>A	ENST00000453495.1	+	12	3037	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K	CEP170B_ENST00000414716.3_Missense_Mutation_p.E936K|CEP170B_ENST00000418279.1_Missense_Mutation_p.E866K|CEP170B_ENST00000556508.1_Missense_Mutation_p.E866K					centrosomal protein 170B																		TGTGGATGCCGAGTGTGAGGG	0.662000													30	41					0	0	0.008361	0	0
BCKDK	10295	broad.mit.edu	37	16	31121057	31121057	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:31121057C>T	ENST00000394951.1	+	5	951	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	BCKDK_ENST00000219794.6_Missense_Mutation_p.R110C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R110C|BCKDK_ENST00000287507.3_Missense_Mutation_p.R110C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	110					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CAAGGGCTTCCGCTGCCTTCC	0.587000													11	96					0	0	0.010729	0	0
RAD21	5885	broad.mit.edu	37	8	117869555	117869555	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:117869555A>C	ENST00000297338.2	-	6	926	c.639T>G	c.(637-639)gaT>gaG	p.D213E	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	213					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCTTATATTGATCTTCATATT	0.333000													15	109					0	0	0.003163	0	0
GTSE1	51512	broad.mit.edu	37	22	46704680	46704680	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr22:46704680G>A	ENST00000454366.1	+	4	814	c.602G>A	c.(601-603)cGg>cAg	p.R201Q		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	182					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.R182H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGCCTCACCCGGGCGCCGGGG	0.687000													4	181					0	0	0.009096	0	0
KCNH8	131096	broad.mit.edu	37	3	19554646	19554646	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:19554646A>C	ENST00000328405.2	+	13	2530	c.2264A>C	c.(2263-2265)cAa>cCa	p.Q755P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	755						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGCTTAAAGCAACTGGCCTCG	0.517000													4	135					0	0	0.009096	0	0
PIK3CA	5290	broad.mit.edu	37	3	178951958	178951958	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:178951958A>G	ENST00000263967.3	+	21	3170	c.3013A>G	c.(3013-3015)Atg>Gtg	p.M1005V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1005	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1005V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTCTCAATGATGCTTGGCTC	0.388000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	101					0	0	0.008291	0	0
VPS13C	54832	broad.mit.edu	37	15	62201315	62201315	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:62201315T>C	ENST00000261517.5	-	65	8927	c.8854A>G	c.(8854-8856)Atc>Gtc	p.I2952V	VPS13C_ENST00000395898.3_Missense_Mutation_p.I2909V|VPS13C_ENST00000395896.4_Missense_Mutation_p.I2952V|VPS13C_ENST00000249837.3_Missense_Mutation_p.I2909V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2952					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCACCAAGATACCCCCATTC	0.348000													5	51					0	0	0.014758	0	0
SIK2	23235	broad.mit.edu	37	11	111487048	111487048	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:111487048A>C	ENST00000304987.3	+	2	390	c.217A>C	c.(217-219)Atg>Ctg	p.M73L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	73	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AATAATGAAAATGTTAGACCA	0.373000													11	71					0	0	0.013537	0	0
MAN2A2	4122	broad.mit.edu	37	15	91450665	91450665	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:91450665G>A	ENST00000360468.3	+	7	1154	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R379H|MAN2A2_ENST00000431652.2_5'UTR	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	379					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGGTGGGCGCATCAACTGC	0.567000													4	93					0	0	0.014758	0	0
TMEM120B	144404	broad.mit.edu	37	12	122190038	122190038	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:122190038G>A	ENST00000449592.2	+	5	471	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	124						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGGCAGGTTCGCCTACAAGGA	0.567000													11	96					0	0	0.010729	0	0
HRNR	388697	broad.mit.edu	37	1	152193268	152193268	+	Silent	SNP	C	C	T	rs150466362		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:152193268C>T	ENST00000368801.2	-	3	912	c.837G>A	c.(835-837)tcG>tcA	p.S279S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	279					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGAAGACGAACCTGAGC	0.577000													37	560					0	0	0.006999	0	0
MOCS2	4338	broad.mit.edu	37	5	52402983	52402983	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:52402983A>G	ENST00000361377.4	-	3	250	c.209T>C	c.(208-210)cTc>cCc	p.L70P	MOCS2_ENST00000582677.1_Missense_Mutation_p.L70P|MOCS2_ENST00000527216.1_Missense_Mutation_p.L65P|MOCS2_ENST00000510818.2_Missense_Mutation_p.L70P|MOCS2_ENST00000450852.3_Missense_Mutation_p.L70P|MOCS2_ENST00000584946.1_Missense_Mutation_p.L70P|MOCS2_ENST00000396954.3_Missense_Mutation_p.S8P|MOCS2_ENST00000508922.1_Missense_Mutation_p.L70P			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	70					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AAGCACGAGGAGCTGATCTCC	0.408000													8	75					0	0	0.003080	0	0
MAP10	54627	broad.mit.edu	37	1	232941483	232941483	+	Silent	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:232941483C>T	ENST00000418460.1	+	1	841	c.714C>T	c.(712-714)ctC>ctT	p.L238L		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AGTCCTGCCTCTTCCGCCTGC	0.721000													5	32					0	0	0.001984	0	0
COL4A6	1288	broad.mit.edu	37	X	107402954	107402954	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:107402954C>T	ENST00000334504.7	-	44	4783	c.4550G>A	c.(4549-4551)cGc>cAc	p.R1517H	COL4A6_ENST00000372216.4_Missense_Mutation_p.R1518H|COL4A6_ENST00000545689.1_Missense_Mutation_p.R1493H|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1460H|COL4A6_ENST00000418180.1_Missense_Mutation_p.R52H|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1518H	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1518	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTGCTGAAGCGGGGCAGACA	0.562000									Alport syndrome with Diffuse Leiomyomatosis				37	108					0	0	0.006230	0	0
TFPI	7035	broad.mit.edu	37	2	188332562	188332562	+	Silent	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:188332562G>A	ENST00000233156.3	-	7	1020	c.726C>T	c.(724-726)tgC>tgT	p.C242C	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.C242C|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	242	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TAAATGGGCGGCATTTCCCAA	0.418000													4	99					0	0	0.009096	0	0
XRN2	22803	broad.mit.edu	37	20	21336757	21336757	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr20:21336757G>A	ENST00000377191.3	+	22	2155	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	XRN2_ENST00000539513.1_Missense_Mutation_p.G633E|XRN2_ENST00000430571.2_Missense_Mutation_p.G611E	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	687					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTATTTGTGGGGAAACATCAC	0.383000													16	128					0	0	0.007413	0	0
CLEC4M	10332	broad.mit.edu	37	19	7833752	7833752	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:7833752C>T	ENST00000327325.5	+	7	1196	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	360	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGTGGAGAACCCAACAATAG	0.512000													23	186					0	0	0.006320	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544946	55544946	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:55544946G>T	ENST00000436346.1	-	20	4197	c.3356C>A	c.(3355-3357)aCc>aAc	p.T1119N	CCDC88A_ENST00000336838.6_Missense_Mutation_p.T1118N|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T1119N|CCDC88A_ENST00000413716.2_Missense_Mutation_p.T1118N|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1119					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CATGAGTGAGGTACTTTGGGA	0.333000													13	87					0.000219431	0.000343776	0.020292	1	0
MUC2	4583	broad.mit.edu	37	11	1075719	1075719	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:1075719G>A	ENST00000441003.2	+	2	172	c.145G>A	c.(145-147)Gac>Aac	p.D49N	MUC2_ENST00000359061.5_Missense_Mutation_p.D49N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	49	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGACCTTCGACGGGGACGT	0.622000													7	38					0	0	0.003080	0	0
ARID1A	8289	broad.mit.edu	37	1	27059237	27059237	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:27059237delA	ENST00000324856.7	+	4	2245	c.1874delA	c.(1873-1875)caafs	p.Q625fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q625fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q242fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	625					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGGGAGGGCAAGAAGATATG	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								19	90	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589217	67589222	+	In_Frame_Del	DEL	TTGAAT	TTGAAT	-			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:67589217_67589222delTTGAAT	ENST00000521381.1	+	10	1821_1826	c.1205_1210delTTGAAT	c.(1204-1212)gttgaatta>gta	p.EL403del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.EL103del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EL133del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EL40del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EL403del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EL403del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EL403del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	403	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGTTCTGTGGTTGAATTAATAAACCA	0.335			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			24	43	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr6:114292110_114292112delCTG	ENST00000398283.2	-	1	247_249	c.243_245delCAG	c.(241-246)agcagg>agg	p.S81del	HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000449620.2_RNA	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN	histone deacetylase 2	0	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685													3	4	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													2	4	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28797435	28797435	+	RNA	DEL	C	C	-	rs77019154		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr21:28797435delC	ENST00000420186.2	-	0	202																											ttccttccttcctttcttcct	0.393													2	4	---	---	---	---					
