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
AHDC1	27245	broad.mit.edu	37	1	27874315	27874315	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:27874315C>G	ENST00000374011.2	-	6	5280	c.4312G>C	c.(4312-4314)Gct>Cct	p.A1438P	AHDC1_ENST00000247087.5_Missense_Mutation_p.A1438P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1438							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGGCTGCAGCTGCGTGGCCC	0.682													3	19	---	---	---	---
SCMH1	22955	broad.mit.edu	37	1	41512096	41512096	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:41512096T>C	ENST00000402904.2	-	12	1819	c.1451A>G	c.(1450-1452)cAc>cGc	p.H484R	SCMH1_ENST00000397174.2_Missense_Mutation_p.H464R|SCMH1_ENST00000372597.1_Missense_Mutation_p.H437R|SCMH1_ENST00000326197.7_Missense_Mutation_p.H484R|SCMH1_ENST00000372596.1_Missense_Mutation_p.H423R|SCMH1_ENST00000456518.2_Missense_Mutation_p.H326R|SCMH1_ENST00000361191.5_Missense_Mutation_p.H423R|SCMH1_ENST00000397171.2_Missense_Mutation_p.H423R|SCMH1_ENST00000337495.5_Missense_Mutation_p.H494R|SCMH1_ENST00000372595.1_Missense_Mutation_p.H423R|SCMH1_ENST00000361705.3_Missense_Mutation_p.H437R	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	484					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GTACCTGTCGTGGCTGTGGCT	0.582													15	22	---	---	---	---
METTL18	92342	broad.mit.edu	37	1	169762232	169762232	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:169762232C>G	ENST00000310392.4	-	2	958	c.605G>C	c.(604-606)gGt>gCt	p.G202A	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.G202A	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	202						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						TGCAGTTATACCTAGTAAACC	0.393													47	59	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173556924	173556924	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:173556924T>A	ENST00000367714.3	-	5	825	c.403A>T	c.(403-405)Att>Ttt	p.I135F	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I33F|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	135					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACATATCCAATTATGATGCTT	0.348													8	115	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564355	176564355	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:176564355A>T	ENST00000367662.3	+	3	2779	c.1615A>T	c.(1615-1617)Aac>Tac	p.N539Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N539Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	539	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAGGGCCTAAACCCCATTGT	0.542													14	19	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228412361	228412361	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:228412361C>G	ENST00000570156.2	+	10	3205	c.3131C>G	c.(3130-3132)gCa>gGa	p.A1044G	OBSCN_ENST00000422127.1_Missense_Mutation_p.A952G|OBSCN_ENST00000284548.11_Missense_Mutation_p.A952G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1044	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGCAGCAGGCAGGCCAGGCG	0.602													20	22	---	---	---	---
TAF5L	27097	broad.mit.edu	37	1	229738306	229738306	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:229738306T>C	ENST00000366675.3	-	4	696	c.608A>G	c.(607-609)aAg>aGg	p.K203R	TAF5L_ENST00000258281.2_Missense_Mutation_p.K203R|TAF5L_ENST00000366676.1_Missense_Mutation_p.K203R	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	203					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTCTGTTCTCTTGGCAGGCTG	0.527													23	33	---	---	---	---
ERLEC1	27248	broad.mit.edu	37	2	54028677	54028677	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:54028677T>G	ENST00000185150.4	+	7	800	c.669T>G	c.(667-669)atT>atG	p.I223M	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.I223M|ERLEC1_ENST00000405123.3_Missense_Mutation_p.I223M|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	223					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						AGCATGAAATTCTTTCAGTAG	0.383													25	30	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100623893	100623893	+	Silent	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:100623893C>G	ENST00000409236.2	-	4	316	c.204G>C	c.(202-204)cgG>cgC	p.R68R	AFF3_ENST00000356421.2_Silent_p.R93R|AFF3_ENST00000409579.1_Silent_p.R93R|AFF3_ENST00000317233.4_Silent_p.R68R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R93R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTTCTGGATCCGGTTGGAGA	0.433													45	79	---	---	---	---
ACTR3	10096	broad.mit.edu	37	2	114709088	114709088	+	Silent	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:114709088A>T	ENST00000263238.2	+	9	1211	c.891A>T	c.(889-891)tcA>tcT	p.S297S	ACTR3_ENST00000535589.2_Silent_p.S246S|ACTR3_ENST00000536059.1_Silent_p.S235S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	297					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						AACCTATCTCAGAAGTTGTAG	0.303													17	20	---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118864346	118864346	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:118864346C>G	ENST00000245787.4	+	4	609	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	135					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACAGTTGTCTCTCACACTGGC	0.388													17	34	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207170014	207170014	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:207170014T>A	ENST00000374423.3	+	5	1148	c.762T>A	c.(760-762)caT>caA	p.H254Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	254							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATCAGAAACATAAAGAATCAA	0.358													6	18	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	210894539	210894539	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:210894539C>G	ENST00000281772.9	-	10	2522	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q711H	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	753																	GTGATGAATTCTGGATTCTTG	0.289													31	84	---	---	---	---
STK36	27148	broad.mit.edu	37	2	219540981	219540981	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:219540981A>G	ENST00000295709.3	+	6	943	c.664A>G	c.(664-666)Acc>Gcc	p.T222A	STK36_ENST00000440309.1_Missense_Mutation_p.T222A|STK36_ENST00000392106.2_Missense_Mutation_p.T222A|STK36_ENST00000392105.3_Missense_Mutation_p.T222A	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	222	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGGCCCTCAACCATCAGTCC	0.448													20	35	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238266526	238266526	+	Splice_Site	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:238266526C>A	ENST00000295550.4	-	22	6924		c.e22-1		COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.?(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGTTACCCTGAAAGCAAC	0.527													92	10	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10188250	10188250	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:10188250C>G	ENST00000256474.2	+	2	1233	c.393C>G	c.(391-393)aaC>aaG	p.N131K	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	131	Involved in binding to CCT complex.		N -> K (in VHLD; type I).|N -> T (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTCTGGTTAACCAAACTGAAT	0.453		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				15	138	---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	24006646	24006646	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:24006646C>A	ENST00000312521.4	+	6	1644	c.1325C>A	c.(1324-1326)aCt>aAt	p.T442N	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	442					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AAGGCTGGGACTTTTGAGGTA	0.363													7	118	---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32932438	32932438	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:32932438A>T	ENST00000383763.5	+	4	1805	c.1742A>T	c.(1741-1743)aAg>aTg	p.K581M		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGGTGGTCAAGTCAGGCCGC	0.602													24	19	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38936400	38936400	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:38936400T>C	ENST00000302328.3	-	15	2657	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S	SCN11A_ENST00000444237.2_Missense_Mutation_p.N820S|SCN11A_ENST00000456224.3_Missense_Mutation_p.N820S|SCN11A_ENST00000450244.1_Missense_Mutation_p.N820S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	820					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAAGTTTCCATTTCTTTCCTC	0.448													4	46	---	---	---	---
ACKR2	1238	broad.mit.edu	37	3	42906763	42906763	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:42906763G>C	ENST00000422265.1	+	3	944	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.V257L|ACKR2_ENST00000442925.1_Missense_Mutation_p.V257L|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		AGCCTTGGTGGTGGCCTTCTT	0.532													47	70	---	---	---	---
CCR1	1230	broad.mit.edu	37	3	46244792	46244792	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:46244792C>G	ENST00000296140.3	-	2	1138	c.1013G>C	c.(1012-1014)aGg>aCg	p.R338T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	338					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGAGCTGACCCTCTCCAGCCT	0.587													17	14	---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52815957	52815957	+	Splice_Site	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:52815957G>T	ENST00000273283.2	+	7	713	c.689G>T	c.(688-690)gGt>gTt	p.G230V	ITIH1_ENST00000542827.1_Splice_Site_p.G230V|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000540715.1_Splice_Site_p.G88V|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	230					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)		CGGTTCCAGGGTCATGTGCTG	0.517													4	47	---	---	---	---
OR5K2	402135	broad.mit.edu	37	3	98216556	98216556	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:98216556A>T	ENST00000427338.1	+	1	109	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATGAAAAATGAGTTTATCCTC	0.383													39	38	---	---	---	---
C3orf56	285311	broad.mit.edu	37	3	126915864	126915864	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:126915864C>T	ENST00000398112.1	+	2	576	c.336C>T	c.(334-336)gaC>gaT	p.D112D		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCAGCTTTGACCCCCTCATAG	0.577													32	155	---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012739	151012739	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:151012739C>G	ENST00000260843.4	-	3	759	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	99						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)			GCATCATGGACTATTCGAAAT	0.373													9	45	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160243734	160243734	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:160243734T>C	ENST00000334256.4	-	9	1023	c.718A>G	c.(718-720)Att>Gtt	p.I240V		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	240					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCTCCTGAATGGTTTCCATT	0.303													47	40	---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170218900	170218900	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:170218900A>C	ENST00000231706.5	-	3	854	c.539T>G	c.(538-540)cTg>cGg	p.L180R	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGTCTCACCCAGGCCATTGAG	0.517													18	32	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13604756	13604756	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:13604756C>T	ENST00000040738.5	-	10	3903	c.3768G>A	c.(3766-3768)ttG>ttA	p.L1256L		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1256							DNA binding										CTGTGTTTTTCAAATTCTTCT	0.393													14	21	---	---	---	---
ANTXR2	118429	broad.mit.edu	37	4	80954651	80954651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:80954651G>T	ENST00000403729.2	-	9	1296	c.771C>A	c.(769-771)taC>taA	p.Y257*	ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Nonsense_Mutation_p.Y257*|ANTXR2_ENST00000404191.1_Nonsense_Mutation_p.Y180*|ANTXR2_ENST00000295465.4_Nonsense_Mutation_p.Y257*	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	257						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CATTTACAGTGTAAGTGCAGA	0.378									Juvenile Hyaline Fibromatosis				16	12	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123131	81123131	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:81123131C>T	ENST00000339711.4	+	10	1746	c.515C>T	c.(514-516)gCg>gTg	p.A172V	PRDM8_ENST00000415738.2_Missense_Mutation_p.A172V|PRDM8_ENST00000504452.1_Missense_Mutation_p.A172V	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCCTATGTGGCGCATCTGCGT	0.597											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	86	---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82355073	82355073	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:82355073C>G	ENST00000509081.1	-	12	1463	c.1242G>C	c.(1240-1242)tgG>tgC	p.W414C	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.W373C|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.W415C			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	415	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CCACTTGTTTCCATGTCATAA	0.378													11	202	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90816530	90816530	+	Silent	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:90816530T>C	ENST00000394980.1	+	2	727	c.408T>C	c.(406-408)aaT>aaC	p.N136N	MMRN1_ENST00000264790.2_Silent_p.N136N|MMRN1_ENST00000394981.1_Silent_p.N102N			Q13201	MMRN1_HUMAN	multimerin 1	136					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCCTTTCCAATTCTACACTGA	0.458													47	62	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997694	115997694	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:115997694C>T	ENST00000264363.2	-	2	1177	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	167	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCTCATTGGCTTTATGAAAA	0.353													30	32	---	---	---	---
NPY5R	4889	broad.mit.edu	37	4	164272284	164272284	+	Silent	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:164272284A>C	ENST00000515560.1	+	4	2381	c.859A>C	c.(859-861)Aga>Cga	p.R287R	NPY5R_ENST00000506953.1_Silent_p.R287R|NPY5R_ENST00000338566.3_Silent_p.R287R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	287					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAACACAGAAGAAGATATAG	0.413													44	43	---	---	---	---
TRIP13	9319	broad.mit.edu	37	5	914586	914586	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:914586A>G	ENST00000166345.3	+	11	1383	c.1027A>G	c.(1027-1029)Atc>Gtc	p.I343V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	343					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCAGTGTCAGATCATATACCC	0.512													7	232	---	---	---	---
ARSB	411	broad.mit.edu	37	5	78251233	78251233	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:78251233C>G	ENST00000264914.4	-	4	1319	c.783G>C	c.(781-783)aaG>aaC	p.K261N	ARSB_ENST00000396151.3_Missense_Mutation_p.K261N|ARSB_ENST00000565165.1_Missense_Mutation_p.K261N	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	261					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GATGCCTGTTCTTGTCTTGGA	0.478													14	3	---	---	---	---
APC	324	broad.mit.edu	37	5	112175856	112175856	+	Nonsense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:112175856T>G	ENST00000457016.1	+	16	4945	c.4565T>G	c.(4564-4566)tTa>tGa	p.L1522*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.L1522*|APC_ENST00000508376.2_Nonsense_Mutation_p.L1522*			P25054	APC_HUMAN	adenomatous polyposis coli	1522	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATGTGGAATTAAGAATAATG	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			30	34	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140579581	140579581	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:140579581C>G	ENST00000354757.3	+	1	234	c.234C>G	c.(232-234)gaC>gaG	p.D78E	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		78	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGCTGGACATAAACACTG	0.512													38	33	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168175430	168175430	+	Missense_Mutation	SNP	T	T	A	rs34681650		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:168175430T>A	ENST00000519560.1	-	20	2566	c.2147A>T	c.(2146-2148)gAg>gTg	p.E716V	SLIT3_ENST00000404867.3_Missense_Mutation_p.E716V|SLIT3_ENST00000332966.8_Missense_Mutation_p.E716V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	716	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGCTACTCTCCTCGTTGCC	0.642													9	39	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24601303	24601303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:24601303G>T	ENST00000378214.3	-	2	553	c.29C>A	c.(28-30)tCa>tAa	p.S10*	KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	10					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCAGCAATGAAGAGAGCAC	0.532													5	88	---	---	---	---
DST	667	broad.mit.edu	37	6	56467779	56467779	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:56467779G>C	ENST00000370754.5	-	42	11108	c.11109C>G	c.(11107-11109)ttC>ttG	p.F3703L	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.F3525L|DST_ENST00000312431.6_Missense_Mutation_p.F3525L|DST_ENST00000370769.4_Missense_Mutation_p.F3525L|DST_ENST00000446842.2_Missense_Mutation_p.F3199L|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3525					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCAATCTGAGAATGACTTAA	0.338													3	48	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69349172	69349172	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:69349172T>C	ENST00000370598.1	+	3	1426	c.605T>C	c.(604-606)tTg>tCg	p.L202S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	202					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTCAGCATTTGGGAGAGTGG	0.473													25	38	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43495935	43495935	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:43495935A>T	ENST00000395891.2	+	13	3145	c.2540A>T	c.(2539-2541)tAt>tTt	p.Y847F	HECW1_ENST00000453890.1_Missense_Mutation_p.Y813F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGGGTCTTTTATGTGGACCAC	0.537													26	30	---	---	---	---
TSC22D4	81628	broad.mit.edu	37	7	100075364	100075364	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100075364G>C	ENST00000300181.2	-	2	1052	c.298C>G	c.(298-300)Ctg>Gtg	p.L100V	TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	100					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGCTCCAGGTCTCGCTCA	0.662													4	4	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679631	100679631	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100679631G>C	ENST00000306151.4	+	3	4998	c.4934G>C	c.(4933-4935)aGt>aCt	p.S1645T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1645	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTGGCCAGTCCTGAGGCT	0.493													116	102	---	---	---	---
MET	4233	broad.mit.edu	37	7	116409761	116409761	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:116409761T>G	ENST00000397752.3	+	12	2846	c.2646T>G	c.(2644-2646)tgT>tgG	p.C882W	MET_ENST00000318493.6_Missense_Mutation_p.C900W	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	882					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATAAGAGCTGTGAGAATATAC	0.378			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				29	20	---	---	---	---
FAM71F2	346653	broad.mit.edu	37	7	128312528	128312528	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:128312528T>G	ENST00000480462.1	+	1	183	c.77T>G	c.(76-78)cTt>cGt	p.L26R	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.L26R|FAM71F2_ENST00000378704.3_Missense_Mutation_p.L26R			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	26										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GAAAATGGCCTTCTTTGTCAA	0.498											OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6	---	---	---	---
FAM71F2	346653	broad.mit.edu	37	7	128312529	128312529	+	Silent	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:128312529T>C	ENST00000480462.1	+	1	184	c.78T>C	c.(76-78)ctT>ctC	p.L26L	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Silent_p.L26L|FAM71F2_ENST00000378704.3_Silent_p.L26L			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	26										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						AAAATGGCCTTCTTTGTCAAC	0.498											OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137308251	137308251	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:137308251C>A	ENST00000424189.2	-	7	1083	c.854G>T	c.(853-855)aGc>aTc	p.S285I	DGKI_ENST00000446122.1_Missense_Mutation_p.S285I|DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.S285I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	285					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCAGGAACAGCTGATAGCCAC	0.423													73	99	---	---	---	---
TRPV6	55503	broad.mit.edu	37	7	142583149	142583149	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:142583149A>C	ENST00000359396.3	-	1	358	c.113T>G	c.(112-114)cTg>cGg	p.L38R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	38					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGCTGCAGCAGGTTCTGCTC	0.607													30	38	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41559078	41559078	+	Silent	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:41559078C>A	ENST00000396942.1	-	22	2534	c.2451G>T	c.(2449-2451)tcG>tcT	p.S817S	ANK1_ENST00000352337.4_Silent_p.S817S|ANK1_ENST00000289734.7_Silent_p.S817S|ANK1_ENST00000347528.4_Silent_p.S817S|ANK1_ENST00000265709.8_Silent_p.S850S|ANK1_ENST00000379758.2_Silent_p.S817S|ANK1_ENST00000396945.1_Silent_p.S817S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	817	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTCATCTTCCGAGACATCCA	0.517											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	2	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113960064	113960064	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:113960064T>A	ENST00000297405.5	-	9	1707	c.1463A>T	c.(1462-1464)gAt>gTt	p.D488V	CSMD3_ENST00000343508.3_Missense_Mutation_p.D448V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	488	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTCCTGGATCTGGGCATAA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	81	---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126049568	126049568	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:126049568A>T	ENST00000318410.7	-	26	3441	c.3092T>A	c.(3091-3093)aTa>aAa	p.I1031K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1031					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTTGTTGTTATGTATATCTG	0.328													64	125	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35092294	35092294	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:35092294C>G	ENST00000378617.3	-	7	1984	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.W530C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	530					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCAGCCAGCCCAGGCTTTCC	0.562													13	15	---	---	---	---
ALDH1B1	219	broad.mit.edu	37	9	38396792	38396792	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:38396792G>A	ENST00000377698.3	+	2	1200	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGAAAGTGGGGAACCCCTTTG	0.567													14	17	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114199253	114199253	+	Silent	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:114199253A>G	ENST00000259335.4	-	8	1208	c.1209T>C	c.(1207-1209)ggT>ggC	p.G403G	KIAA0368_ENST00000338205.5_Silent_p.G225G	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATGGGTTATCACCAATAACTC	0.463													41	117	---	---	---	---
WDR31	114987	broad.mit.edu	37	9	116079080	116079080	+	Silent	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:116079080G>C	ENST00000374193.4	-	11	1299	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	WDR31_ENST00000374195.3_Silent_p.L226L|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.L350L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	351										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGTCCATTCTGAGTAAGTGAA	0.502													48	32	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140846798	140846798	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:140846798A>G	ENST00000371372.1	+	7	1184	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V	CACNA1B_ENST00000277551.2_Missense_Mutation_p.M347V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M347V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	347					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCCTTCTTCATGCTCAACCT	0.587													3	39	---	---	---	---
PRTFDC1	56952	broad.mit.edu	37	10	25160954	25160954	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:25160954G>A	ENST00000320152.6	-	4	406	c.378C>T	c.(376-378)ggC>ggT	p.G126G	PRTFDC1_ENST00000376378.1_Silent_p.G126G	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	126					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						AAAGATCATCGCCTCCGATTA	0.463													107	130	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98146717	98146717	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:98146717C>T	ENST00000357947.3	-	14	2070	c.1845G>A	c.(1843-1845)atG>atA	p.M615I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	615	EGF-like 1; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACCTTCACACATCTTCTTAT	0.587													35	3	---	---	---	---
PLEKHS1	79949	broad.mit.edu	37	10	115535574	115535574	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:115535574C>A	ENST00000354462.3	+	4	388	c.230C>A	c.(229-231)cCt>cAt	p.P77H	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.P327H|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.P245H|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.P347H|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.P161H					pleckstrin homology domain containing, family S member 1																		TTCCTTTCTCCTCCTGATGTC	0.438													40	48	---	---	---	---
PLEKHS1	79949	broad.mit.edu	37	10	115535575	115535575	+	Silent	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:115535575T>G	ENST00000354462.3	+	4	389	c.231T>G	c.(229-231)ccT>ccG	p.P77P	PLEKHS1_ENST00000369310.3_Silent_p.P327P|PLEKHS1_ENST00000369312.4_Silent_p.P245P|PLEKHS1_ENST00000361048.1_Silent_p.P347P|PLEKHS1_ENST00000369309.1_Silent_p.P161P					pleckstrin homology domain containing, family S member 1																		TCCTTTCTCCTCCTGATGTCA	0.433													40	47	---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57095829	57095829	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:57095829T>C	ENST00000278412.2	-	13	1819	c.1553A>G	c.(1552-1554)aAa>aGa	p.K518R		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	518	Arg/Lys-rich (basic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TTTGAGCTGTTTCCGCTTCTT	0.567													5	60	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121490558	121490558	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:121490558G>A	ENST00000260197.7	+	43	5950	c.5821G>A	c.(5821-5823)Gtt>Att	p.V1941I	SORL1_ENST00000527934.1_Missense_Mutation_p.V556I|SORL1_ENST00000532694.1_Missense_Mutation_p.V787I|SORL1_ENST00000534286.1_Missense_Mutation_p.V851I|SORL1_ENST00000525532.1_Missense_Mutation_p.V885I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1941	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTGCATGTGGTTCATACGGG	0.557													22	55	---	---	---	---
HEPACAM	220296	broad.mit.edu	37	11	124793827	124793827	+	Silent	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:124793827T>G	ENST00000298251.4	-	3	912	c.507A>C	c.(505-507)tcA>tcC	p.S169S		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	169	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CATTCTCATGTGAGCAGTTCA	0.582													10	6	---	---	---	---
KRT78	196374	broad.mit.edu	37	12	53237983	53237983	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53237983G>A	ENST00000359499.4	-	6	622	c.611C>T	c.(610-612)tCt>tTt	p.S204F	KRT78_ENST00000304620.4_Missense_Mutation_p.S314F			Q8N1N4	K2C78_HUMAN	keratin 78	314	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AAGCTGGGCAGACACCTGAAG	0.517													40	32	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53676966	53676966	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53676966A>G	ENST00000257934.4	+	15	2936	c.2845A>G	c.(2845-2847)Atc>Gtc	p.I949V	ESPL1_ENST00000552462.1_Missense_Mutation_p.I949V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	949					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTCCGAAGCATCATCCTCCT	0.532													7	50	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101493355	101493355	+	Splice_Site	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:101493355G>A	ENST00000392979.3	+	21	2262		c.e21-1		ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000392977.3_Splice_Site	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTTTGCCCAGGTTAATTCAG	0.328										HNSCC(74;0.22)			15	30	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129558643	129558643	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:129558643T>G	ENST00000422113.2	-	9	3403	c.3077A>C	c.(3076-3078)gAt>gCt	p.D1026A	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D564A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1026						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCTTTCCCATCAATGATGAT	0.468													16	67	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25478177	25478177	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:25478177C>G	ENST00000381884.4	-	8	2897	c.2712G>C	c.(2710-2712)caG>caC	p.Q904H	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q904H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	904					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTCAAAACCTGGGATCGAG	0.368													28	55	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110814789	110814789	+	Splice_Site	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:110814789C>A	ENST00000375820.4	-	48	4371	c.4250G>T	c.(4249-4251)gGt>gTt	p.G1417V	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1417	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCTCTTGGACCTGGAAGATA	0.468													12	38	---	---	---	---
SLC22A17	51310	broad.mit.edu	37	14	23821250	23821250	+	Translation_Start_Site	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:23821250C>T	ENST00000397260.3	-	0	625				SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Silent_p.S58S|SLC22A17_ENST00000397267.1_Silent_p.S58S|SLC22A17_ENST00000206544.8_Silent_p.S58S			Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	p.S58S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGCCGCTGCACGAGGGGTCGG	0.672													3	4	---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35782199	35782199	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:35782199G>C	ENST00000261479.4	+	5	642	c.522G>C	c.(520-522)gaG>gaC	p.E174D	PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AACAAACTGAGTCAACCAGCT	0.403													9	134	---	---	---	---
FLVCR2	55640	broad.mit.edu	37	14	76091035	76091035	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:76091035T>G	ENST00000238667.4	+	3	1248	c.892T>G	c.(892-894)Tta>Gta	p.L298V	FLVCR2_ENST00000556856.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000539311.1_Missense_Mutation_p.L93V|FLVCR2_ENST00000553587.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000556241.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	298					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGCCTCATACTTAGGTTCCAT	0.473													35	41	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103442111	103442111	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:103442111C>A	ENST00000361246.2	-	11	1705	c.1417G>T	c.(1417-1419)Ggc>Tgc	p.G473C		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	473					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGATGAGCCGTGGAGGGAC	0.557													10	153	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28437220	28437220	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:28437220C>A	ENST00000261609.7	-	53	8446	c.8338G>T	c.(8338-8340)Gac>Tac	p.D2780Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2780	DOC.				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)		GACCAGCTGTCCAGCAGCATG	0.567											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	81	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28437221	28437221	+	Silent	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:28437221C>A	ENST00000261609.7	-	53	8445	c.8337G>T	c.(8335-8337)ctG>ctT	p.L2779L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2779	DOC.				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)		ACCAGCTGTCCAGCAGCATGC	0.567											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	80	---	---	---	---
AP4E1	23431	broad.mit.edu	37	15	51221310	51221310	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:51221310A>C	ENST00000261842.5	+	6	753	c.647A>C	c.(646-648)gAc>gCc	p.D216A	AP4E1_ENST00000560508.1_Missense_Mutation_p.D141A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	216					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GCACTTTGTGACAGAGATGTT	0.353													12	81	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	54025336	54025336	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:54025336G>T	ENST00000396328.1	-	2	250	c.11C>A	c.(10-12)tCc>tAc	p.S4Y	WDR72_ENST00000559418.1_Missense_Mutation_p.S4Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S4Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S4Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	4										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGCCTGCAGGGAAGTCCTCAT	0.473													24	31	---	---	---	---
PTPN9	5780	broad.mit.edu	37	15	75819591	75819591	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:75819591C>T	ENST00000306726.2	-	2	587	c.75G>A	c.(73-75)caG>caA	p.Q25Q	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	25						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCGAGAAACTGCTTGGTAG	0.393													22	26	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81598853	81598853	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:81598853G>A	ENST00000394660.2	+	18	4129	c.3769G>A	c.(3769-3771)Gac>Aac	p.D1257N	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Missense_Mutation_p.D1258N|IL16_ENST00000394652.2_Missense_Mutation_p.D557N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1258	PDZ 4.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCTACACGGAGACAAGCCTCT	0.577													40	56	---	---	---	---
FES	2242	broad.mit.edu	37	15	91437015	91437015	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:91437015G>T	ENST00000328850.3	+	17	2319	c.2177G>T	c.(2176-2178)tGg>tTg	p.W726L	FES_ENST00000394300.3_Missense_Mutation_p.W668L|FES_ENST00000450438.2_Missense_Mutation_p.W598L|FES_ENST00000394302.1_Missense_Mutation_p.W585L|FES_ENST00000414248.2_Missense_Mutation_p.W598L|FES_ENST00000444422.2_Missense_Mutation_p.W656L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	726	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCGTGAAGTGGACCGCACCT	0.617													8	85	---	---	---	---
TRIM72	493829	broad.mit.edu	37	16	31234164	31234164	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:31234164G>T	ENST00000322122.3	+	6	1041	c.757G>T	c.(757-759)Gca>Tca	p.A253S		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	253					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAAGATCCTGGCAGAGTCTCC	0.612													3	25	---	---	---	---
B3GNT9	84752	broad.mit.edu	37	16	67183601	67183601	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:67183601G>A	ENST00000449549.3	-	2	1323	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	263					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CGTGCGGATGGGCCGCGCATG	0.657													4	15	---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70589037	70589037	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:70589037G>A	ENST00000302516.5	+	13	1849	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	546					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAATTGTGAAGTGTGCAGTGA	0.463													67	49	---	---	---	---
CMTR2	55783	broad.mit.edu	37	16	71318227	71318227	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:71318227A>C	ENST00000338099.5	-	3	1933	c.1597T>G	c.(1597-1599)Ttg>Gtg	p.L533V	CMTR2_ENST00000434935.2_Missense_Mutation_p.L533V					cap methyltransferase 2	533																	TTGGAATCCAAATTAAAAGCT	0.343													33	19	---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90106851	90106851	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:90106851C>G	ENST00000268699.4	+	9	1277	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	GAS8_ENST00000536122.1_Missense_Mutation_p.F360L|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	385					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGGTGCAGTTCAACGAGGTCC	0.622													14	2	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10446277	10446277	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:10446277C>T	ENST00000245503.5	-	10	1203	c.819G>A	c.(817-819)aaG>aaA	p.K273K	MYH2_ENST00000532183.2_Silent_p.K273K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.K273K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	273	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAACTCTAGACTTCTCTAGCA	0.313													3	19	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37676290	37676290	+	Silent	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:37676290A>G	ENST00000447079.4	+	11	3078	c.3045A>G	c.(3043-3045)ctA>ctG	p.L1015L	CDK12_ENST00000430627.2_Silent_p.L1015L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1015	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACAGACCCTACAGAGCGACT	0.473			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			33	9	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41251796	41251796	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:41251796T>G	ENST00000357654.3	-	7	661	c.543A>C	c.(541-543)gaA>gaC	p.E181D	BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.E181D|BRCA1_ENST00000352993.3_Missense_Mutation_p.E181D|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E181D|BRCA1_ENST00000354071.3_Missense_Mutation_p.E181D|BRCA1_ENST00000493795.1_Missense_Mutation_p.E134D|BRCA1_ENST00000471181.2_Missense_Mutation_p.E181D|BRCA1_ENST00000491747.2_Missense_Mutation_p.E181D|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.E181D|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	181					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAATTCAATGTAGA	0.378			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			140	105	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247778	56247778	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:56247778C>A	ENST00000545221.1	+	1	762	c.762C>A	c.(760-762)agC>agA	p.S254R		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCGTTCCAAGCATTTACCTCT	0.537													33	3	---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2877442	2877442	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:2877442G>A	ENST00000586426.1	+	4	570	c.483G>A	c.(481-483)ctG>ctA	p.L161L	ZNF556_ENST00000307635.2_Silent_p.L162L			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCATCCCTGATAAGGCACA	0.428													40	51	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7812334	7812334	+	Translation_Start_Site	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:7812334G>A	ENST00000593660.1	-	0	63				CD209_ENST00000301357.8_Intron|CD209_ENST00000601256.1_De_novo_Start_OutOfFrame|CD209_ENST00000204801.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000354397.6_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_De_novo_Start_OutOfFrame|CD209_ENST00000315591.8_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000315599.7_Intron			Q9NNX6	CD209_HUMAN	CD209 molecule						cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAATCCCAGCGTCCCAACCCA	0.607													87	78	---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18273222	18273222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:18273222G>T	ENST00000593731.1	+	9	1575	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	PIK3R2_ENST00000222254.8_Nonsense_Mutation_p.E339*			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	339	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCACAGGGAGGAGGTGAACGA	0.617													13	19	---	---	---	---
GIPR	2696	broad.mit.edu	37	19	46184863	46184863	+	Splice_Site	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:46184863G>T	ENST00000590918.1	+	13	1253	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	GIPR_ENST00000304207.8_Splice_Site_p.G349V|GIPR_ENST00000263281.3_Splice_Site_p.G385V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	385					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)		TCTGGGCAGGGCTTCCTGGTC	0.652													4	23	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47593282	47593282	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:47593282G>T	ENST00000253048.5	-	5	694	c.657C>A	c.(655-657)gaC>gaA	p.D219E	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	219							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTTTGGTGAAGTCGTCATAGT	0.582													18	23	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9416222	9416222	+	Nonsense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:9416222T>G	ENST00000378501.2	+	25	2519	c.2504T>G	c.(2503-2505)tTa>tGa	p.L835*	PLCB4_ENST00000378493.1_Nonsense_Mutation_p.L835*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.L835*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.L835*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.L847*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.L847*|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	835					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTGGATGCTTTATCAGATCCA	0.338													14	27	---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33509154	33509154	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:33509154G>T	ENST00000360596.2	+	11	1510	c.1299G>T	c.(1297-1299)caG>caT	p.Q433H	ACSS2_ENST00000253382.5_Missense_Mutation_p.Q446H|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q383H	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	433					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATCCTTGCAGGTGTTAGGCA	0.602													7	64	---	---	---	---
CEP250	11190	broad.mit.edu	37	20	34099346	34099346	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:34099346T>A	ENST00000397527.1	+	35	7940	c.7220T>A	c.(7219-7221)cTg>cAg	p.L2407Q	CEP250_ENST00000342580.4_Missense_Mutation_p.L2351Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2407					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCACTGTCCTGGAGGCAGAG	0.647													3	41	---	---	---	---
MLC1	23209	broad.mit.edu	37	22	50500057	50500057	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr22:50500057G>A	ENST00000311597.5	-	12	1695	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	MLC1_ENST00000450140.2_Silent_p.D311D|MLC1_ENST00000395876.2_Silent_p.D363D|MLC1_ENST00000538737.1_Silent_p.D329D|MLC1_ENST00000431262.2_Silent_p.D333D|MLC1_ENST00000535444.1_Silent_p.D284D|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	363						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CTTTCTCCTTGTCGAACTCCT	0.642													25	25	---	---	---	---
YIPF6	286451	broad.mit.edu	37	X	67731784	67731784	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:67731784A>T	ENST00000462683.1	+	2	895	c.151A>T	c.(151-153)Agc>Tgc	p.S51C	YIPF6_ENST00000470730.1_3'UTR|YIPF6_ENST00000374622.2_Intron	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	51						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GGAGTTTGACAGCTCCACATT	0.408													99	4	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128894500	128894500	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:128894500C>T	ENST00000371106.3	+	16	1633	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	481					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGCATACACCCGTGTGCTGAT	0.552													129	166	---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129200819	129200819	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:129200819G>A	ENST00000308167.5	-	9	2248	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	ELF4_ENST00000335997.7_Silent_p.S623S	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	623					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCATCAGCAGGGACCCTGAGC	0.592			T	ERG	AML								19	78	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135309468	135309468	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:135309468T>A	ENST00000316077.9	-	12	2229	c.2009A>T	c.(2008-2010)cAg>cTg	p.Q670L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635L|MAP7D3_ENST00000495432.1_5'UTR	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	670						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTGGTCTTCCTGATCCAGCCA	0.448													28	38	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153130077	153130077	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:153130077G>C	ENST00000370060.1	-	24	3318	c.3129C>G	c.(3127-3129)tgC>tgG	p.C1043W	L1CAM_ENST00000361699.4_Missense_Mutation_p.C1043W|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1043W|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000370055.1_Missense_Mutation_p.C1038W|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1038W|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1045W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1043	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGAAGTTGCACTGGCCCT	0.597													48	65	---	---	---	---
TUBA4B	80086	broad.mit.edu	37	2	220136477	220136480	+	RNA	DEL	TGTG	TGTG	-			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:220136477_220136480delTGTG	ENST00000490341.1	+	0	947_950					NR_003063.1																						ACCATGGAGATGTGGTGCCCAAGG	0.529													9	47	---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52757020	52757031	+	Splice_Site	DEL	TGCCACTCACCT	TGCCACTCACCT	-			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:52757020_52757031delTGCCACTCACCT	ENST00000257901.3	-	5	1025_1027	c.950_952delAGGTGAGTGGCA	c.(949-954)aaggtg>atg	p.317_318KV>M	KRT85_ENST00000544265.1_Splice_Site_p.105_106KV>M	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	317	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGTCCTGTGCCACTCACCTTGCTACGGTA	0.547													8	21	---	---	---	---
