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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
RLF	6018	broad.mit.edu	37	1	40703344	40703344	+	Silent	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:40703344G>A	uc001cfc.3	+	8	3001	c.2970G>A	c.(2968-2970)ACG>ACA	p.T990T	RLF_uc001cfd.3_Silent_p.T681T	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	990					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGATAAAGACGAAAGATCTGT	0.408		NA											12	55					0	0	0	0
HMCN1	83872	broad.mit.edu	37	1	186072800	186072800	+	Silent	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:186072800G>A	uc001grq.1	+	69	10999	c.10770G>A	c.(10768-10770)CAG>CAA	p.Q3590Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3590	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTACTGCTCAGGTAAGTGTCA	0.393		NA											7	30					0	0	0	0
HIF1AN	55662	broad.mit.edu	37	10	102296171	102296171	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr10:102296171C>A	uc001krj.3	+	2	256	c.181C>A	c.(181-183)CCT>ACT	p.P61T		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	hypoxia-inducible factor 1, alpha subunit	61	Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CATTTAGGAGCCTGTGGTGCT	0.458		NA											22	104					1.5e-11	1.73e-11	1	0
LBX1	10660	broad.mit.edu	37	10	102987175	102987175	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr10:102987175C>T	uc001ksx.2	-	2	843	c.698G>A	c.(697-699)GGC>GAC	p.G233D	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	233					muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GACCGGAGAGCCGGGCCTCGA	0.756		NA											6	21					0	0	0	0
CYB5R2	51700	broad.mit.edu	37	11	7689764	7689764	+	Silent	SNP	C	C	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr11:7689764C>A	uc001mfm.2	-	6	655	c.417G>T	c.(415-417)ACG>ACT	p.T139T	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.T139T|CYB5R2_uc009yfl.1_3'UTR	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	139					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGGCTCACTCGTCTGGTCTG	0.507		NA											27	104					9.65e-13	1.12e-12	1	0
RASGRP2	10235	broad.mit.edu	37	11	64508502	64508502	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr11:64508502C>T	uc009ypu.2	-	5	516	c.289G>A	c.(289-291)GCT>ACT	p.A97T	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Missense_Mutation_p.A97T|RASGRP2_uc009ypw.2_Missense_Mutation_p.A97T	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	97	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						ATCTGCTCAGCCAACTCCGGG	0.597		NA									OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	35					0	0	0	0
KLRC2	3822	broad.mit.edu	37	12	10584759	10584759	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr12:10584759C>A	uc001qyk.2	-	5	537	c.530G>T	c.(529-531)CGT>CTT	p.R177L	KLRC3_uc001qyh.2_Intron|KLRC2_uc010she.1_Missense_Mutation_p.R177L	NM_002260	NP_002251	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C,	177	Extracellular (Potential).|C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0						ACTGCTGTTACGAAACACACC	0.294		NA											11	26					2.49e-13	2.9e-13	1	0
HIST4H4	121504	broad.mit.edu	37	12	14923918	14923918	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr12:14923918G>A	uc001rcf.3	-	1	148	c.101C>T	c.(100-102)GCG>GTG	p.A34V	HIST4H4_uc001rce.2_RNA	NM_175054	NP_778224	P62805	H4_HUMAN	histone cluster 4, H4	34					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						ACGGCGAATCGCCGGCTTTGT	0.607		NA									OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	52					0	0	0	0
OR4M1	441670	broad.mit.edu	37	14	20249043	20249043	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr14:20249043G>T	uc010tku.1	+	1	562	c.562G>T	c.(562-564)GCC>TCC	p.A188S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTCCGGATTGCCTGTGCCAA	0.458		NA											21	268					1.64e-13	1.93e-13	1	0
OCA2	4948	broad.mit.edu	37	15	28230313	28230313	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr15:28230313G>A	uc001zbh.3	-	13	1371	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W	OCA2_uc010ayv.2_Missense_Mutation_p.R397W	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	421	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCCCACACCCGTCCCCGGGAG	0.572		NA							Oculocutaneous_Albinism				4	11					0	0	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891363	29891363	+	Silent	SNP	G	G	A	rs112977823		TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr16:29891363G>A	uc002duq.3	-	9	1635	c.1395C>T	c.(1393-1395)TTC>TTT	p.F465F	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.F395F|SEZ6L2_uc002dur.3_Silent_p.F395F|SEZ6L2_uc002dus.3_Silent_p.F351F|SEZ6L2_uc010vec.1_Silent_p.F465F|SEZ6L2_uc010ved.1_Silent_p.F421F	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	465	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GGAAGGGGGCGAAGCAGCGAT	0.547		NA											10	29					0	0	0	0
DDX19A	55308	broad.mit.edu	37	16	70404240	70404240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr16:70404240C>T	uc002eyv.2	+	10	1206	c.1135C>T	c.(1135-1137)CGA>TGA	p.R379*	DDX19B_uc010vly.1_Nonsense_Mutation_p.R380*|DDX19A_uc002eys.2_Nonsense_Mutation_p.R380*|DDX19A_uc010cfq.1_Nonsense_Mutation_p.R134*|DDX19A_uc010cfr.2_Nonsense_Mutation_p.R229*|DDX19A_uc010cfs.2_Nonsense_Mutation_p.R202*|DDX19A_uc010vlz.1_Nonsense_Mutation_p.R348*|DDX19A_uc010vma.1_Nonsense_Mutation_p.R289*	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	379	Helicase C-terminal.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				TGAGCGCTTCCGAGAGGGCAA	0.622		NA											3	29					0	0	0	0
GGNBP2	79893	broad.mit.edu	37	17	34935802	34935802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:34935802C>T	uc002hnb.2	+	8	1222	c.973C>T	c.(973-975)CAG>TAG	p.Q325*	GGNBP2_uc002hna.2_Nonsense_Mutation_p.Q325*|GGNBP2_uc002hnc.1_Nonsense_Mutation_p.Q154*	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	325					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GCAGACATGGCAGATGCTTTT	0.433		NA											7	120					0	0	0	0
CWC25	54883	broad.mit.edu	37	17	36963178	36963178	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:36963178G>C	uc002hqu.2	-	7	895	c.742C>G	c.(742-744)CAA>GAA	p.Q248E	CWC25_uc010wdv.1_Missense_Mutation_p.Q185E|CWC25_uc010wdw.1_RNA|CWC25_uc010wdx.1_RNA	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	248											0						CCTCTCTTTTGCTCTGCTGTC	0.507		NA											13	57					0	0	0	0
GRN	2896	broad.mit.edu	37	17	42430078	42430078	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:42430078G>T	uc002igp.1	+	13	1913	c.1694G>T	c.(1693-1695)TGC>TTC	p.C565F	GRN_uc002igr.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	565					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGCTTCCGCTGCGCAGCCAGG	0.667		NA											10	62					7.48e-07	8.39e-07	1	0
ABCA8	10351	broad.mit.edu	37	17	66883568	66883568	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr17:66883568G>A	uc002jhp.2	-	23	3283	c.3104C>T	c.(3103-3105)TCC>TTC	p.S1035F	ABCA8_uc002jhq.2_Missense_Mutation_p.S1075F|ABCA8_uc010wqq.1_Missense_Mutation_p.S1075F|ABCA8_uc010wqr.1_Missense_Mutation_p.S1014F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1035	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GAAGTACAGGGAAACATCCAC	0.418		NA											11	104					0	0	0	0
LPIN2	9663	broad.mit.edu	37	18	2923796	2923796	+	Silent	SNP	T	T	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr18:2923796T>A	uc002klo.2	-	16	2390	c.2151A>T	c.(2149-2151)GCA>GCT	p.A717A		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	717	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGTAGAGCTTTGCTATACCCT	0.478		NA											21	81					0	0	0	0
RFX2	5990	broad.mit.edu	37	19	6004277	6004277	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr19:6004277T>A	uc002meb.2	-	13	1704	c.1435A>T	c.(1435-1437)AAG>TAG	p.K479*	RFX2_uc002mec.2_Nonsense_Mutation_p.K454*	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						TCCAAGCTCTTGGCAAAGTTA	0.547		NA											29	101					0	0	0	0
CILP2	148113	broad.mit.edu	37	19	19655208	19655208	+	Silent	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr19:19655208G>A	uc002nmv.3	+	8	1939	c.1854G>A	c.(1852-1854)GCG>GCA	p.A618A	CILP2_uc002nmw.3_Silent_p.A624A	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	618						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						TCACCTCGGCGGCGTCTGCCC	0.697		NA											7	118					0	0	0	0
WNT10A	80326	broad.mit.edu	37	2	219755048	219755048	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr2:219755048C>T	uc002vjd.1	+	3	1182	c.719C>T	c.(718-720)GCG>GTG	p.A240V		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	240					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACATCCACGCGAGAATGAGG	0.617		NA											6	31					0	0	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590879	234590879	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr2:234590879C>T	uc002vut.2	+	1	296	c.296C>T	c.(295-297)ACG>ATG	p.T99M	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.T99M	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN	UDP glycosyltransferase 1 family, polypeptide A7	99					drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding			ovary(1)	1		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;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTCGCTGGACGGCACCATTG	0.418		NA											6	105					0	0	0	0
BPIL3	128859	broad.mit.edu	37	20	31626754	31626754	+	Missense_Mutation	SNP	C	C	T	rs150580944		TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr20:31626754C>T	uc010zuc.1	+	9	886	c.886C>T	c.(886-888)CGC>TGC	p.R296C	BPIL3_uc010zud.1_Missense_Mutation_p.R235C	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	296			R -> H (de novo variant found in a patient with mental retardation).			extracellular region	lipid binding			ovary(1)|pancreas(1)	2						GACCCTGGCTCGCTTCATTCC	0.557		NA											37	136					0	0	0	0
SOX18	54345	broad.mit.edu	37	20	62680604	62680604	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr20:62680604A>C	uc002yhs.2	-	1	376	c.266T>G	c.(265-267)ATG>AGG	p.M89R		NM_018419	NP_060889	P35713	SOX18_HUMAN	SRY-box 18	89	HMG box.				angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GAAGGCGTTCATGGGCCGCCG	0.537		NA											16	30					0	0	0	0
IL17RA	23765	broad.mit.edu	37	22	17578691	17578691	+	Silent	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr22:17578691C>T	uc002zly.2	+	3	301	c.168C>T	c.(166-168)ACC>ACT	p.T56T	IL17RA_uc010gqt.2_Silent_p.T56T	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	56	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGCCAGGTACCTGCCTGGATG	0.567		NA											9	38					0	0	0	0
C22orf9	23313	broad.mit.edu	37	22	45601760	45601760	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr22:45601760G>A	uc003bfx.1	-	3	316	c.250C>T	c.(250-252)CGG>TGG	p.R84W	C22orf9_uc010gzw.1_5'UTR|C22orf9_uc003bfv.1_Missense_Mutation_p.R93W|C22orf9_uc003bfw.1_Missense_Mutation_p.R89W|C22orf9_uc010gzx.2_Missense_Mutation_p.R66W	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	84							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		GAGTCCCGCCGGTACACCTCC	0.617		NA											10	49					0	0	0	0
RBM5	10181	broad.mit.edu	37	3	50145726	50145726	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr3:50145726C>T	uc003cyg.2	+	14	1329	c.1181C>T	c.(1180-1182)TCA>TTA	p.S394L	RBM5_uc011bdj.1_Missense_Mutation_p.S338L|RBM5_uc011bdk.1_Missense_Mutation_p.S222L	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	394	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGATGCATCATCTGCATCA	0.373		NA											9	49					0	0	0	0
ALPK1	80216	broad.mit.edu	37	4	113353310	113353310	+	Silent	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr4:113353310C>T	uc003iap.3	+	11	2886	c.2607C>T	c.(2605-2607)CAC>CAT	p.H869H	ALPK1_uc003ian.3_Silent_p.H869H|ALPK1_uc011cfx.1_Silent_p.H791H|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.H697H	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	869							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAAATGGGCACGGCTCTCATA	0.597		NA											13	22					0	0	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966007	139966007	+	Silent	SNP	A	A	C			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr4:139966007A>C	uc003ihl.2	+	3	868	c.675A>C	c.(673-675)CTA>CTC	p.L225L		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like	225					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)					CACCTTGTCTAGATGTAGAAC	0.463		NA											26	51					0	0	0	0
C5orf49	134121	broad.mit.edu	37	5	7832094	7832094	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:7832094G>A	uc003jea.3	-	3	443	c.313C>T	c.(313-315)CGC>TGC	p.R105C		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	hypothetical protein LOC134121	105											0						TGATTGATGCGCTTCCCATAG	0.542		NA											9	156					0	0	0	0
EDIL3	10085	broad.mit.edu	37	5	83402601	83402601	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:83402601G>T	uc003kio.1	-	6	936	c.517C>A	c.(517-519)CAA>AAA	p.Q173K	EDIL3_uc003kip.1_Missense_Mutation_p.Q163K	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	173	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCTGTGATTTGCTGGTTTGAT	0.393		NA											17	105					6.94e-10	7.94e-10	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140741082	140741082	+	Silent	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:140741082C>T	uc003ljs.1	+	1	1380	c.1380C>T	c.(1378-1380)CAC>CAT	p.H460H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.H460H|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	460	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATGGTTCACGTGGCAGAGA	0.557		NA											26	67					0	0	0	0
KIAA0141	9812	broad.mit.edu	37	5	141316762	141316762	+	Splice_Site	SNP	G	G	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr5:141316762G>T	uc003lls.2	+	11	1272	c.1150_splice	c.e11-1	p.D384_splice	KIAA0141_uc003llt.2_Splice_Site_p.D384_splice|KIAA0141_uc003llu.1_Splice_Site	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor						apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCCTTAGGACTCACAGA	0.498		NA											14	86					1.36e-06	1.52e-06	1	0
FOXP4	116113	broad.mit.edu	37	6	41566645	41566645	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr6:41566645G>A	uc003oql.2	+	17	2472	c.2014G>A	c.(2014-2016)GAG>AAG	p.E672K	FOXP4_uc003oqm.2_Missense_Mutation_p.E670K|FOXP4_uc003oqn.2_Missense_Mutation_p.E659K	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	672					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGACCTGGAGGAGGAGCTGCC	0.687		NA											5	14					0	0	0	0
CD109	135228	broad.mit.edu	37	6	74440235	74440235	+	Missense_Mutation	SNP	C	C	T	rs137899447	by1000genomes	TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr6:74440235C>T	uc003php.2	+	4	870	c.445C>T	c.(445-447)CGC>TGC	p.R149C	CD109_uc010kaz.2_Missense_Mutation_p.R149C|CD109_uc003phq.2_Missense_Mutation_p.R149C|CD109_uc010kba.2_Intron	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	149						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AGTGAAGTTTCGCATTGTTAC	0.373		NA											3	35					0	0	0	0
TIAM2	26230	broad.mit.edu	37	6	155458480	155458480	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr6:155458480G>A	uc003qqb.2	+	7	2637	c.1364G>A	c.(1363-1365)CGG>CAG	p.R455Q	TIAM2_uc003qqe.2_Missense_Mutation_p.R455Q|TIAM2_uc010kjj.2_5'UTR	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	455					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATCCCCTCCGGCAGAACATT	0.512		NA											5	91					0	0	0	0
DDX56	54606	broad.mit.edu	37	7	44612540	44612540	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr7:44612540C>T	uc003tlg.2	-	3	975	c.332G>A	c.(331-333)CGG>CAG	p.R111Q	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R47Q|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.R111Q|DDX56_uc010kyh.1_Intron	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	111	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1						TCGGACATCCCGAGCACAGTA	0.527		NA											38	82					0	0	0	0
POM121L12	285877	broad.mit.edu	37	7	53103492	53103492	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr7:53103492C>T	uc003tpz.2	+	1	144	c.128C>T	c.(127-129)ACG>ATG	p.T43M		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	43											0						CCCCAGACCACGCCATCTCCC	0.682		NA											4	39					0	0	0	0
IQUB	154865	broad.mit.edu	37	7	123101543	123101543	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr7:123101543A>T	uc003vkn.2	-	11	2452	c.1875T>A	c.(1873-1875)TGT>TGA	p.C625*	IQUB_uc011kny.1_5'UTR|IQUB_uc003vko.2_Nonsense_Mutation_p.C625*|IQUB_uc010lkt.2_RNA	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	625										ovary(3)|large_intestine(1)	4						TGCAGTTACGACACCGGTATA	0.368		NA											7	40					0	0	0	0
PHKA2	5256	broad.mit.edu	37	X	18972425	18972425	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:18972425G>A	uc004cyv.3	-	2	614	c.184C>T	c.(184-186)CGT>TGT	p.R62C	PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Missense_Mutation_p.R4C	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	62					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					GCATTCTTACGGTAGGCCATG	0.597		NA											19	77					0	0	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157441	26157441	+	Silent	SNP	G	G	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:26157441G>A	uc004dbq.1	+	2	526	c.339G>A	c.(337-339)TCG>TCA	p.S113S		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	113	MAGE.						protein binding			central_nervous_system(1)	1						AAGTAGTGTCGCTGGTGCATT	0.413		NA											8	11					0	0	0	0
CXorf22	170063	broad.mit.edu	37	X	35974175	35974175	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:35974175T>G	uc004ddj.2	+	8	1331	c.1272T>G	c.(1270-1272)TGT>TGG	p.C424W	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	424										large_intestine(1)|lung(1)|ovary(1)	3						TTAAACCTTGTTTCATGGGTG	0.368		NA											10	104					0	0	0	0
HEPH	9843	broad.mit.edu	37	X	65413378	65413378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chrX:65413378C>T	uc011moz.1	+	8	1336	c.1276C>T	c.(1276-1278)CGA>TGA	p.R426*	HEPH_uc004dwn.2_Nonsense_Mutation_p.R426*|HEPH_uc004dwo.2_Nonsense_Mutation_p.R156*|HEPH_uc010nkr.2_Nonsense_Mutation_p.R426*|HEPH_uc011mpa.1_Nonsense_Mutation_p.R426*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	423	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GAGCTCCAGCCGAATTGGGGG	0.393		NA											9	17					0	0	0	0
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs56352724		TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr1:154842200_154842202delGCT	uc001ffp.2	-	1	553_555	c.239_241delAGC	c.(238-243)CAGCCA>CCA	p.Q80del	KCNN3_uc009wox.1_In_Frame_Del_p.Q80del	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	80	Poly-Gln.					integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGCGGTGgctgctgctgctg	0.34		NA											2	4	---	---	---	---	NA	NA	NA	NA
ADAMTS7	11173	broad.mit.edu	37	15	79059020	79059021	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6488-01A-12D-2078-08	TCGA-CR-6488-10A-01D-2078-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8bfa9606-b24d-4803-b551-2e86fb02ae5e	89b37386-4cde-4b98-9870-d1357d03d251	g.chr15:79059020_79059021insA	uc002bej.3	-	19	3443_3444	c.3232_3233insT	c.(3232-3234)TACfs	p.Y1078fs	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1078					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						AGAGGGCCCGTAGGACAGATCC	0.624		NA											9	35	---	---	---	---	NA	NA	NA	NA
