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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RAB3GAP1	22930	broad.mit.edu	37	2	135815628	135815628	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr2:135815628G>A	uc010fnf.3	+	2	165	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.G41E|RAB3GAP1_uc010fng.3_5'UTR	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	41						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	p.G41R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAACTGATTGGAAACTCTTTG	0.383000														40			23		0	0	0.091800	0	0
C14orf43	91748	broad.mit.edu	37	14	74196477	74196477	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr14:74196477T>C	uc010tud.1	-	2	2208	c.1961A>G	c.(1960-1962)tAc>tGc	p.Y654C	C14orf43_uc001xos.3_5'Flank|C14orf43_uc001xot.3_Missense_Mutation_p.Y654C|C14orf43_uc001xou.3_Missense_Mutation_p.Y654C|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GGGCGGCGTGTAGGGAGGTAG	0.627000														48			22		0	0	0.055883	0	0
PUF60	22827	broad.mit.edu	37	8	144898885	144898885	+	Silent	SNP	G	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr8:144898885G>A	uc003yzs.3	-	11	1549	c.1485C>T	c.(1483-1485)cgC>cgT	p.R495R	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.3_Silent_p.R452R|PUF60_uc003yzr.3_Silent_p.R435R|PUF60_uc003yzt.3_Silent_p.R478R	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA.	495	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				RNA splicing|apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGATGATGACGCGGTTCACGG	0.522000														210			6		0	0	0.029380	0	0
GIPR	2696	broad.mit.edu	37	19	46180223	46180223	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr19:46180223G>T	uc002pcu.1	+	7	749	c.650G>T	c.(649-651)cGc>cTc	p.R217L	GIPR_uc002pct.1_Missense_Mutation_p.R217L|GIPR_uc010xxp.1_Missense_Mutation_p.R181L|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642B_uc021uvy.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	217					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCTGCCTGCCGCACGGCCCAG	0.672000														66			3		0.004672	0.00487964	0.115264	1	0
NBPF10	100132406	broad.mit.edu	37	1	145360624	145360624	+	Silent	SNP	G	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr1:145360624G>A	uc021oul.1	+	73	9284	c.9249G>A	c.(9247-9249)tcG>tcA	p.S3083S	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3083								p.S3083S(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGTTATTCGACTCCTTCAG	0.478000														9			5		0	0	0.029380	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870669	69870669	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr4:69870669C>A	uc011cao.1	-	7	1486	c.1360G>T	c.(1360-1362)Gcc>Tcc	p.A454S	UGT2B10_uc011can.1_Missense_Mutation_p.A370S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	498					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCACACAGGCCAGCAGGAAC	0.448000														134			14		0.000151284	0.000165357	0.105934	1	0
POP1	10940	broad.mit.edu	37	8	99142345	99142345	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr8:99142345C>T	uc003yij.4	+	4	726	c.626C>T	c.(625-627)gCc>gTc	p.A209V	POP1_uc011lgv.2_Missense_Mutation_p.A209V|POP1_uc003yik.3_Missense_Mutation_p.A209V	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	209					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.A209V(2)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATCTGGCACGCCAAGCGGTTT	0.488000														57			44		0	0	0.104719	0	0
LMNA	4000	broad.mit.edu	37	1	156105085	156105085	+	Silent	SNP	C	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr1:156105085C>T	uc001fni.2	+	4	1167	c.918C>T	c.(916-918)ctC>ctT	p.L306L	LMNA_uc001fnf.1_Silent_p.L306L|LMNA_uc001fng.2_Silent_p.L306L|LMNA_uc001fnh.2_Silent_p.L306L|LMNA_uc009wro.1_Silent_p.L306L|LMNA_uc010pgz.1_Silent_p.L194L|LMNA_uc001fnj.2_Silent_p.L225L|LMNA_uc001fnk.2_Silent_p.L207L|LMNA_uc009wrp.3_Missense_Mutation_p.S34L|LMNA_uc010pha.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	306	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CTGCCCAGCTCAGCCAGCTCC	0.662000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					13			7		0	0	0.069234	0	0
RGAG1	57529	broad.mit.edu	37	X	109694572	109694572	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chrX:109694572T>C	uc004eor.2	+	2	973	c.727T>C	c.(727-729)Tcc>Ccc	p.S243P	RGAG1_uc011msr.1_Missense_Mutation_p.S243P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	243										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CGAAGCAATGTCCAAAGTGCT	0.478000														108			51		0	0	0.139131	0	0
SLC12A7	10723	broad.mit.edu	37	5	1094290	1094290	+	Silent	SNP	C	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr5:1094290C>T	uc003jbu.3	-	1	264	c.198G>A	c.(196-198)ggG>ggA	p.G66G		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	66					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCATGTTCTTCCCTTCAAAGA	0.468000														32			38		0	0	0.111260	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117585	117585	+	RNA	SNP	C	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chrGL000205.1:117585C>T	uc002kgk.4	+	0		c.963C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGACAGCCGACTCCACCACCG	0.617000														10			3		0	0	0.115264	0	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	T	T	rs71905623		TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chrX:66765161A>T	uc004dwu.2	+	0	1288	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_uc011mpd.2_Missense_Mutation_p.Q58L|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.Q58L|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.Q58L	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(4)|p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome					37			4		0	0	0.014758	0	0
PTPRA	5786	broad.mit.edu	37	20	2998529	2998529	+	Silent	SNP	C	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr20:2998529C>T	uc010zqd.2	+	11	1361	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	PTPRA_uc002whj.3_Silent_p.V337V|PTPRA_uc002whk.3_Silent_p.V328V|PTPRA_uc002whl.3_Silent_p.V328V|PTPRA_uc002whm.3_Silent_p.V104V|PTPRA_uc002whn.3_Silent_p.V328V|PTPRA_uc002who.3_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	337	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCACCATCGTCATGGTTACCA	0.433000														26			25		0	0	0.091800	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17401582	17401582	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr10:17401582T>A	uc001ipd.3	-	3	308	c.308A>T	c.(307-309)tAc>tTc	p.Y103F	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	103					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AATCTGAAGGTAGTCGTTCTC	0.284000														34			3		0	0	0.115264	0	0
SF3B3	23450	broad.mit.edu	37	16	70595650	70595650	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr16:70595650C>T	uc002ezf.3	+	16	2462	c.2251C>T	c.(2251-2253)Ccc>Tcc	p.P751S		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	751					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding	p.P751P(2)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGAACAGTGTCCCGAGGGCAT	0.532000														80			52		0	0	0.139131	0	0
NYAP1	222950	broad.mit.edu	37	7	100086267	100086267	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr7:100086267C>T	uc003uvd.1	+	3	1082	c.923C>T	c.(922-924)cCg>cTg	p.P308L	NYAP1_uc003uve.1_Missense_Mutation_p.P90L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	308	Pro-rich.																TCAGCCCTCCCGAGCCGGAGG	0.697000														115			6		0	0	0.021553	0	0
DCAF7	10238	broad.mit.edu	37	17	61628109	61628109	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr17:61628109G>T	uc002jbc.3	+	0	288	c.71G>T	c.(70-72)tGg>tTg	p.W24L	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Missense_Mutation_p.W24L	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	24					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GCGATGAACTGGAGTGTGCGG	0.642000														39			3		2.56e-06	2.93463e-06	0.009096	1	0
MYH3	4621	broad.mit.edu	37	17	10554908	10554908	+	Silent	SNP	G	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr17:10554908G>A	uc002gmq.2	-	4	514	c.426C>T	c.(424-426)ggC>ggT	p.G142G		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	142	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGCCTCGGTAGCCTTCCACCA	0.557000														135			60		0	0	0.139131	0	0
SCO2	9997	broad.mit.edu	37	22	50962803	50962803	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr22:50962803C>G	uc003bma.3	-	1	214	c.38G>C	c.(37-39)aGg>aCg	p.R13T	NCAPH2_uc003blx.4_3'UTR|NCAPH2_uc003blr.4_3'UTR|SCO2_uc003blz.4_Missense_Mutation_p.R13T|SCO2_uc021wrz.1_Missense_Mutation_p.R13T|SCO2_uc021wsa.1_Missense_Mutation_p.R13T|SCO2_uc021wsb.1_Missense_Mutation_p.R13T	NM_001169111	NP_005129	O43819	SCO2_HUMAN	Homo sapiens SCO cytochrome oxidase deficient homolog 2 (yeast) (SCO2), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	13					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGAGAGAGCCTGTGCCAAGC	0.627000														51			3		0	0	0.115264	0	0
GH1	2688	broad.mit.edu	37	17	61995168	61995168	+	Silent	SNP	G	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr17:61995168G>T	uc002jdj.3	-	3	470	c.408C>A	c.(406-408)gtC>gtA	p.V136V	GH1_uc002jdi.3_Silent_p.V121V|GH1_uc002jdk.3_Silent_p.V96V|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Intron	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	136			V -> I (in dbSNP:rs5388).		JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGAGGTCATAGACGTTGCTGT	0.607000														64			48		1.67211e-32	2.06813e-32	0.139131	1	0
RYR3	6263	broad.mit.edu	37	15	33905537	33905537	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr15:33905537G>T	uc001zhi.3	+	18	2388	c.2318G>T	c.(2317-2319)gGg>gTg	p.G773V	RYR3_uc010bar.3_Missense_Mutation_p.G773V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	773	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACACAGACGGGCTCTTCTTC	0.552000														13			14		0.000308642	0.000329686	0.132662	1	0
SPOCK1	6695	broad.mit.edu	37	5	136314458	136314458	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr5:136314458C>T	uc003lbo.3	-	9	1396	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	SPOCK1_uc003lbp.3_Missense_Mutation_p.R402Q	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	402					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCAGCTCCCGTTCATATTC	0.517000														38			57		0	0	0.139131	0	0
ITIH1	3697	broad.mit.edu	37	3	52813483	52813483	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr3:52813483A>G	uc003dfs.3	+	4	476	c.446A>G	c.(445-447)cAc>cGc	p.H149R	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.H7R|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	149	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTCACCATCCACCTCACCGTC	0.493000														82			5		0	0	0.014758	0	0
IGSF5	150084	broad.mit.edu	37	21	41143024	41143024	+	Silent	SNP	G	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr21:41143024G>A	uc002yyo.3	+	3	703	c.600G>A	c.(598-600)gtG>gtA	p.V200V		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	200	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AAAGTGCAGTGAGCATCCTGG	0.552000														94			4		0	0	0.009096	0	0
SSX1	6756	broad.mit.edu	37	X	48123289	48123289	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chrX:48123289G>A	uc004djb.1	+	5	494	c.403G>A	c.(403-405)Gat>Aat	p.D135N		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						CCCACAAAACGATGGGAAACA	0.423000			T	SS18	synovial sarcoma									289			19		0	0	0.038395	0	0
FYTTD1	84248	broad.mit.edu	37	3	197501076	197501076	+	Silent	SNP	T	C	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr3:197501076T>C	uc003fyi.2	+	5	870	c.651T>C	c.(649-651)acT>acC	p.T217T	FYTTD1_uc011bui.1_Silent_p.T191T|FYTTD1_uc011buj.1_Non-coding_Transcript|FYTTD1_uc011buk.1_Silent_p.T150T	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	217					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CAAAGAGAACTCGTCAGTAAG	0.378000														116			4		0	0	0.014758	0	0
ZNF175	7728	broad.mit.edu	37	19	52091521	52091521	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr19:52091521T>C	uc002pxb.3	+	4	2315	c.1937T>C	c.(1936-1938)cTt>cCt	p.L646P	AX748312_uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	646					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TATGAATGCCTTGACTGTGGG	0.443000														95			46		0	0	0.111260	0	0
TTN	7273	broad.mit.edu	37	2	179429062	179429062	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr2:179429062G>T	uc021vsy.1	-	274	74318	c.74093C>A	c.(74092-74094)gCa>gAa	p.A24698E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A18393E|TTN_uc021vta.1_Missense_Mutation_p.A18326E|TTN_uc021vtb.1_Missense_Mutation_p.A18201E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25625	Fibronectin type-III 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCTCTTGCAGTAATGGC	0.393000														93			28		2.48779e-11	2.99811e-11	0.108266	1	0
USP26	83844	broad.mit.edu	37	X	132160221	132160221	+	Silent	SNP	A	C	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chrX:132160221A>C	uc011mvf.2	-	0	2080	c.2028T>G	c.(2026-2028)ccT>ccG	p.P676P	USP26_uc010nrm.1_Silent_p.P676P	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	676					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGCTGCTGGCAGGTTTACCTC	0.428000														131			36		0	0	0.074837	0	0
NUP88	4927	broad.mit.edu	37	17	5314095	5314095	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr17:5314095C>T	uc010vsx.2	-	3	697	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NUP88_uc002gbo.2_Missense_Mutation_p.R203H|NUP88_uc010cle.2_Missense_Mutation_p.R203H|NUP88_uc010vsy.2_Missense_Mutation_p.R203H	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	203					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CTGCGGCTCACGTAGTGAGTA	0.388000														136			79		0	0	0.139131	0	0
NELL2	4753	broad.mit.edu	37	12	45097517	45097517	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr12:45097517T>C	uc010skz.1	-	12	1585	c.1460A>G	c.(1459-1461)tAc>tGc	p.Y487C	NELL2_uc001rof.3_Missense_Mutation_p.Y436C|NELL2_uc001rog.2_Missense_Mutation_p.Y437C|NELL2_uc001roh.2_Missense_Mutation_p.Y437C|NELL2_uc009zkd.2_Missense_Mutation_p.Y436C|NELL2_uc010sla.1_Missense_Mutation_p.Y460C|NELL2_uc001roi.1_Missense_Mutation_p.Y437C|NELL2_uc010slb.1_Missense_Mutation_p.Y436C|NELL2_uc001roj.2_Missense_Mutation_p.Y437C	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	437	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACCTTCACAGTAGGCATTATC	0.403000														58			29		0	0	0.125774	0	0
RYR1	6261	broad.mit.edu	37	19	38948197	38948197	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr19:38948197G>T	uc002oit.3	+	16	1982	c.1852G>T	c.(1852-1854)Gat>Tat	p.D618Y	RYR1_uc002oiu.3_Missense_Mutation_p.D618Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	618	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCAACCAAGATCTTATTAC	0.522000														253			9		2.17888e-05	2.43827e-05	0.058154	1	0
CP	1356	broad.mit.edu	37	3	148916162	148916162	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr3:148916162C>A	uc003ewy.4	-	8	1958	c.1705G>T	c.(1705-1707)Ggg>Tgg	p.G569W	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G350W|CP_uc003ewz.3_Missense_Mutation_p.G569W|CP_uc010hvf.1_Missense_Mutation_p.G295W	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	569	F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACCTGTCTCCCATTTGCATGT	0.348000														65			13		7.03913e-09	8.27097e-09	0.093190	1	0
SLC5A6	8884	broad.mit.edu	37	2	27427384	27427384	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr2:27427384G>A	uc010eyv.1	-	9	1272	c.950C>T	c.(949-951)gCg>gTg	p.A317V	SLC5A6_uc002rjd.3_Missense_Mutation_p.A317V	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	317					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	p.A317V(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CTGGTAATACGCGAACATGAC	0.597000														63			27		0	0	0.125774	0	0
ELTD1	64123	broad.mit.edu	37	1	79386001	79386001	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr1:79386001G>A	uc001diq.4	-	9	1484	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	443					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATGCATATGGCAAGACAAAT	0.313000														76			32		0	0	0.050027	0	0
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	CA	CA			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr1:248801602_248801603insCA	uc001ies.1	-	0	957_958	c.957_958insTG	c.(955-960)gtgatcfs	p.V319fs		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 35 (OR2T35), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													---	4	---	---	2	---					
ACTR1B	10120	broad.mit.edu	37	2	98275011	98275014	+	Frame_Shift_Del	DEL	GAGT	-	-			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr2:98275011_98275014delGAGT	uc002syb.2	-	5	741_744	c.533_536delACTC	c.(532-537)cactccfs	p.H178fs		NM_005735	NP_005726	P42025	ACTY_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA.	178						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CCGCATGATGGAGTGAGGCATGGC	0.603													---	63	---	---	10	---					
LSM14A	26065	broad.mit.edu	37	19	34710448	34710449	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-BQ-5879-01A-11D-1589-08	TCGA-BQ-5879-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4bbd9ac-1407-4318-a83b-19f1b5b92604	23e170f1-858d-4c25-95c7-ef04b3ffa05a	g.chr19:34710448_34710449delAG	uc002nvb.4	+	6	1130_1131	c.934_935delAG	c.(934-936)agafs	p.R312fs	LSM14A_uc002nva.4_Frame_Shift_Del_p.R312fs|LSM14A_uc010xru.2_Frame_Shift_Del_p.R271fs|LSM14A_uc002nvc.4_Frame_Shift_Del_p.R118fs	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	312	DFDF.				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.R312K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGAGATTGACAGAGAGTTTCAT	0.327													---	84	---	---	59	---					
