Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ITPR2	3709	broad.mit.edu	37	12	26784902	26784902	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:26784902G>A	ENST00000381340.3	-	22	3247	c.2831C>T	c.(2830-2832)cCg>cTg	p.P944L	RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	944					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGGCACATCCGGCACGCTCAT	0.542000													23	225					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370764	20370764	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:20370764G>A	ENST00000302451.4	-	12	1880	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	544					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.Y544Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTTGGATACGTACTTGGTCA	0.512000													109	199					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802016	185802016	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:185802016G>A	ENST00000302277.6	+	4	2487	c.1893G>A	c.(1891-1893)ggG>ggA	p.G631G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	631						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAATGCTGGGAAATATCTAT	0.353000													99	158					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542480	179542480	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:179542480C>T	ENST00000589042.1	-	146	34383	c.34159G>A	c.(34159-34161)Gaa>Aaa	p.E11387K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11070K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10143K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11070	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTTCTTCAGGTAGAACT	0.433000													26	190					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136150	74136150	+	Silent	SNP	G	G	A	rs145296122	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:74136150G>A	ENST00000322957.6	-	2	681	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	109					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCACGTCGTCGGGGGGTGGGG	0.706000													7	46					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483000													4	148					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200137015	200137015	+	Silent	SNP	G	G	A	rs141424911	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:200137015G>A	ENST00000443023.1	-	10	3409	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	SATB2_ENST00000417098.1_Silent_p.S707S|SATB2_ENST00000260926.5_Silent_p.S707S|SATB2_ENST00000457245.1_Silent_p.S707S|SATB2_ENST00000428695.1_Silent_p.S589S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	707						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACATCTCCTCGGAGCCTTCCT	0.537000													56	97					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1572077	1572077	+	Missense_Mutation	SNP	C	C	A	rs1059815	by1000genomes	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:1572077C>A	ENST00000407249.3	-	18	1892	c.1893G>T	c.(1891-1893)aaG>aaT	p.K631N	CDK11B_ENST00000317673.7_Missense_Mutation_p.K629N|CDK11B_ENST00000340677.5_Missense_Mutation_p.K618N|CDK11B_ENST00000341832.6_Missense_Mutation_p.K584N			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	641	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CGATTTCTGACTTCCCGGGGA	0.587000													18	50					2.37509e-13	2.54474e-13	1	1	0
KRT80	144501	broad.mit.edu	37	12	52567511	52567511	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:52567511G>A	ENST00000313234.5	-	5	801	c.704C>T	c.(703-705)tCg>tTg	p.S235L	KRT80_ENST00000394815.2_Missense_Mutation_p.S235L	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	235	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GACGGTCACCGACACATCCTT	0.667000													21	76					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795745	69795745	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:69795745C>T	ENST00000251566.4	-	6	1400	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	UGT2A3_ENST00000420231.2_Missense_Mutation_p.R168Q	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	457						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAAGACTGCTCGATCTAGGGG	0.448000													6	218					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48391978	48391978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:48391978C>T	ENST00000435803.1	+	31	10606	c.10582C>T	c.(10582-10584)Caa>Taa	p.Q3528*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3528					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCCCCACTGCAAGACATGAT	0.522000													13	47					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192882	132192882	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:132192882C>G	ENST00000359827.3	-	2	1533	c.571G>C	c.(571-573)Ggg>Cgg	p.G191R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G191R|PLXNA4_ENST00000378539.5_Missense_Mutation_p.G191R|PLXNA4_ENST00000423507.2_Missense_Mutation_p.G191R			Q9HCM2	PLXA4_HUMAN	plexin A4	191	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGGGCTTCCCATCCACTGCC	0.542000													9	104					0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141434	21141434	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr9:21141434T>A	ENST00000380229.2	-	1	710	c.136A>T	c.(136-138)Aga>Tga	p.R46*		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	46					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGGGAGATTCTCCTCATTTGG	0.517000													106	112					0	0	1	0	0
SSR2	6746	broad.mit.edu	37	1	155989934	155989934	+	Silent	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:155989934A>G	ENST00000295702.4	-	2	96	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	SSR2_ENST00000480567.1_Silent_p.L9L|SSR2_ENST00000496742.1_Silent_p.L9L|SSR2_ENST00000529008.1_Silent_p.L9L	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	9					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AATAGAGCCAACACCACAAAT	0.478000													24	39					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103481	53103481	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:53103481G>A	ENST00000408890.4	+	1	133	c.117G>A	c.(115-117)acG>acA	p.T39T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	39										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CACCCAGCACGCCCCAGACCA	0.687000													15	55					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57333292	57333292	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:57333292C>T	ENST00000361249.3	+	2	184	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	30					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGAGTAAGACGGGCAGCTAC	0.453000													4	100					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312444	25312444	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:25312444A>G	ENST00000524413.1	+	3	639	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	THNSL1_ENST00000376356.4_Missense_Mutation_p.S98G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	98					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CTGGAATATGAGTGTGTCTGA	0.383000													4	117					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33810288	33810288	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:33810288C>A	ENST00000238823.8	-	8	1252	c.1112G>T	c.(1111-1113)cGa>cTa	p.R371L	FAM98A_ENST00000441530.2_Missense_Mutation_p.R176L|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	372	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TCCTCCCCCTCGGCCACCATG	0.562000													38	95					1.57019e-19	1.72338e-19	1	1	0
PCDHA7	56141	broad.mit.edu	37	5	140216232	140216232	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:140216232G>A	ENST00000525929.1	+	1	2264	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R755Q|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1												p.R755Q(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.617000													22	47					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791962	41791962	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr8:41791962T>C	ENST00000396930.3	-	18	4319	c.3776A>G	c.(3775-3777)aAt>aGt	p.N1259S	KAT6A_ENST00000265713.2_Missense_Mutation_p.N1259S|KAT6A_ENST00000406337.1_Missense_Mutation_p.N1259S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1259					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CTCAGGACTATTGCTGCTGTC	0.582000													7	27					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104173	53104173	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:53104173C>T	ENST00000408890.4	+	1	825	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	270								p.A270V(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCTGGGAGGCGACAACGCCT	0.632000													29	79					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913228	6913228	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:6913228G>A	ENST00000299459.2	-	1	602	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACTGCCTCGGTAGGGTAGCC	0.493000													55	31					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55748070	55748070	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:55748070G>A	ENST00000412770.2	-	17	2495	c.1929C>T	c.(1927-1929)ggC>ggT	p.G643G	PPP6R1_ENST00000587283.1_Silent_p.G643G	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	643	Glu-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CCTGCCAGGCGCCATCTTCTC	0.622000													3	32					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595554	55595554	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:55595554C>T	ENST00000378397.1	+	1	860	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATGCTGAACCCCCTGATCTAC	0.438000										HNSCC(27;0.073)			15	73					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228584661	228584661	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:228584661C>T	ENST00000493030.2	-	4	4180	c.471G>A	c.(469-471)ctG>ctA	p.L157L	TRIM11_ENST00000366699.3_Silent_p.L282L|TRIM11_ENST00000284551.6_Silent_p.L282L|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	282					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GAAACCTCCGCAGTGTCTCTA	0.632000													4	94					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79479040	79479040	+	Silent	SNP	C	C	T	rs139059365	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:79479040C>T	ENST00000575842.1	-	2	678	c.252G>A	c.(250-252)aaG>aaA	p.K84K	ACTG1_ENST00000575087.1_Silent_p.K84K|ACTG1_ENST00000573283.1_Silent_p.K84K|ACTG1_ENST00000331925.2_Silent_p.K84K			P63261	ACTG_HUMAN	actin, gamma 1	84					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGTGCCAGATCTTCTCCATGT	0.622000													88	64					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714163	70714163	+	RNA	SNP	T	T	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:70714163T>G	ENST00000530196.1	-	0	355					NR_003951.1																						ATGAACAACATGTTTCTGGTC	0.517000													6	130					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525491	248525491	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:248525491C>T	ENST00000366475.1	+	1	609	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCGTGGATCCCGGGAGATTC	0.498000													86	190					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:53856761T>C	ENST00000458035.1	+	4	2950	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348000													4	59					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581207	82581207	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:82581207G>A	ENST00000423517.2	-	5	9399	c.9062C>T	c.(9061-9063)aCa>aTa	p.T3021I	PCLO_ENST00000333891.8_Missense_Mutation_p.T3021I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2952					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTACTGCTGTGTCAGTTCC	0.398000													27	68					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39859410	39859410	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:39859410G>A	ENST00000538976.1	+	19	2435	c.2252_splice	c.e19-1	p.R751_splice	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Splice_Site_p.R751_splice|DAAM2_ENST00000398904.2_Splice_Site_p.R751_splice|RP11-61I13.3_ENST00000430595.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	751	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTGTCTACAGGATTGACCACT	0.577000													6	18					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971088	21971088	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr9:21971088G>T	ENST00000579755.1	-	2	605	c.313C>A	c.(313-315)Cct>Act	p.P105T	CDKN2A_ENST00000578845.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P105T|CDKN2A_ENST00000479692.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P146T|CDKN2A_ENST00000304494.5_Missense_Mutation_p.F90L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.F39L			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			Missing.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.F90F(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGTGTCCAGGAAGCCCTCCC	0.751000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			19	22					4.96729e-08	5.23894e-08	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31918738	31918738	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:31918738G>A	ENST00000396184.3	-	5	500	c.296C>T	c.(295-297)cCt>cTt	p.P99L	PDE1C_ENST00000396193.1_Missense_Mutation_p.P159L|PDE1C_ENST00000396191.1_Missense_Mutation_p.P99L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P99L|PDE1C_ENST00000396182.2_Missense_Mutation_p.P99L	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	99					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GACCTCAGAAGGCACAGCATC	0.527000													17	87					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183053	102183053	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:102183053C>T	ENST00000306176.1	+	7	867	c.767C>T	c.(766-768)tCa>tTa	p.S256L	ZPLD1_ENST00000491959.1_Missense_Mutation_p.S240L|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S240L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	240	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACTACCCCATCAGGAAACCCA	0.323000													47	117					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47853937	47853937	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:47853937C>T	ENST00000507489.1	-	21	2620	c.2444G>A	c.(2443-2445)cGt>cAt	p.R815H	NFXL1_ENST00000381538.3_Missense_Mutation_p.R815H	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	815						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R815H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTGATTTTCACGTACTTTGTT	0.358000													11	120					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431782	89431782	+	RNA	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:89431782G>A	ENST00000532352.1	+	0	2064							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTCTTTAGAGACTCTGTATT	0.358000													12	35					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44538243	44538243	+	Missense_Mutation	SNP	G	G	A	rs138807551		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:44538243G>A	ENST00000542937.1	-	4	991	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45W|PLTP_ENST00000372431.3_Missense_Mutation_p.R133W|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_Missense_Mutation_p.R133W			P55058	PLTP_HUMAN	phospholipid transfer protein	133					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCGGGATCCCGGGAGAGCTCC	0.597000													19	151					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816136	16816136	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:16816136A>T	ENST00000355661.3	-	19	2654	c.2644T>A	c.(2644-2646)Ttc>Atc	p.F882I	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F882I|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F882I|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	882	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGCTGGGGGAAGAGTCGAACC	0.617000													11	141					0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27181546	27181546	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:27181546T>C	ENST00000222726.3	-	2	781	c.721A>G	c.(721-723)Atc>Gtc	p.I241V	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	241					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TGGAACCAGATTTTAATTTGT	0.493000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	176					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42580325	42580325	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:42580325C>T	ENST00000381668.5	-	12	1311	c.1080G>A	c.(1078-1080)ttG>ttA	p.L360L	ATP8A1_ENST00000264449.10_Silent_p.L360L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	360					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.L360F(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTAATGTAACCAATAAGCTGA	0.358000													18	80					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52515327	52515327	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:52515327C>A	ENST00000242839.4	-	16	3602	c.3446G>T	c.(3445-3447)gGa>gTa	p.G1149V	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.G719V|ATP7B_ENST00000418097.2_Missense_Mutation_p.G1084V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G360V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G1038V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G1071V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G942V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1149			G -> A (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCACGGTTTCCAATCAGCAC	0.468000									Wilson disease				24	60					1.55469e-16	1.69261e-16	1	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													4	70					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47776888	47776888	+	Splice_Site	SNP	G	G	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr21:47776888G>C	ENST00000359568.5	+	13	2043		c.e13-1		PCNT_ENST00000480896.1_Splice_Site	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTCCACACAGAGCTTCCCTG	0.607000													7	70					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19625862	19625862	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:19625862G>A	ENST00000360913.3	-	1	976	c.375C>T	c.(373-375)taC>taT	p.Y125Y	TSSK6_ENST00000585580.3_Silent_p.Y125Y			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	125	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GATCGTGCAGGTAGCGCACGG	0.692000													19	66					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64960317	64960317	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:64960317C>T	ENST00000399262.2	-	11	5413	c.5195G>A	c.(5194-5196)cGa>cAa	p.R1732Q	JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R1550Q|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R1513Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1732					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTACATTCTCGACACTTTTG	0.383000													35	70					0	0	1	0	0
C3orf55	152078	broad.mit.edu	37	3	157289047	157289047	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:157289047C>T	ENST00000449199.2	+	3	306	c.165C>T	c.(163-165)gaC>gaT	p.D55D	C3orf55_ENST00000459838.1_Silent_p.D55D|C3orf55_ENST00000426338.2_Silent_p.D55D|C3orf55_ENST00000312275.5_Silent_p.D55D|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN	chromosome 3 open reading frame 55	55										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			TAGGTGGAGACCTGACAAATT	0.428000													8	39					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713760	70713760	+	RNA	SNP	A	A	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:70713760A>C	ENST00000530196.1	-	0	758					NR_003951.1																						GAAACCATGCATGAGTCCACC	0.438000													19	108					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39797211	39797211	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:39797211A>G	ENST00000564288.1	+	37	5728	c.4951A>G	c.(4951-4953)Atc>Gtc	p.I1651V	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.I91V|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.I1688V|MACF1_ENST00000372915.3_Missense_Mutation_p.I1656V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1656					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGACTGAAAATCTTAGAAGC	0.458000													34	121					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107113751	107113751	+	RNA	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:107113751T>C	ENST00000454421.2	-	0	420																											TCTCGCACAGTAATACACAGC	0.537000													48	270					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656194	40656194	+	Silent	SNP	G	G	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:40656194G>T	ENST00000406785.1	-	2	1416	c.1227C>A	c.(1225-1227)atC>atA	p.I409I	SLC8A1_ENST00000406391.2_Silent_p.I409I|SLC8A1_ENST00000405901.3_Silent_p.I409I|SLC8A1_ENST00000405269.1_Silent_p.I409I|SLC8A1_ENST00000403092.1_Silent_p.I409I|SLC8A1_ENST00000332839.4_Silent_p.I409I|SLC8A1_ENST00000542756.1_Silent_p.I409I|SLC8A1_ENST00000402441.1_Silent_p.I409I|SLC8A1_ENST00000408028.2_Silent_p.I409I|SLC8A1_ENST00000542024.1_Silent_p.I409I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	409	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTTCAAAGAAGATCTTACTAA	0.458000													24	192					1.42536e-11	1.51514e-11	1	1	0
EYA4	2070	broad.mit.edu	37	6	133769265	133769265	+	Silent	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:133769265T>C	ENST00000367895.5	+	5	689	c.225T>C	c.(223-225)gtT>gtC	p.V75V	EYA4_ENST00000431403.2_Silent_p.V75V|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000531901.1_Silent_p.V75V|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355167.3_Silent_p.V75V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	75					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACATGACTGTTTTAAACACAG	0.438000													19	63					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609257	105609257	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:105609257C>T	ENST00000331782.3	-	26	3895	c.3492G>A	c.(3490-3492)gcG>gcA	p.A1164A	JAG2_ENST00000347004.2_Silent_p.A1126A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1164					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gcccgggcagcgcctcgtccg	0.706000													12	44					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200869306	200869306	+	Silent	SNP	C	C	T	rs34596202	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:200869306C>T	ENST00000367342.4	+	4	710	c.510C>T	c.(508-510)atC>atT	p.I170I	C1orf106_ENST00000413687.2_Silent_p.I85I	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	170										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCAGGATCGGAGCGGCTT	0.607000													18	47					0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23316091	23316091	+	RNA	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr15:23316091G>A	ENST00000560464.1	-	0	2848																											ATCTCAGCATGAACTCCAGCA	0.453000													21	120					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48643366	48643366	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:48643366G>A	ENST00000263274.7	-	12	1368	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	LIG1_ENST00000427526.2_Missense_Mutation_p.R286C|LIG1_ENST00000536218.1_Missense_Mutation_p.R249C	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	317					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACCACGGAGCGCAGCAAGTTG	0.657000								Nucleotide excision repair (NER)					31	29					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100211107	100211107	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:100211107C>T	ENST00000393950.2	+	3	571	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	MOSPD3_ENST00000424091.2_Intron|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R97C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.R97C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	97	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGTGTGATTCGCCATGTGGC	0.582000													12	58					0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167422683	167422683	+	Splice_Site	SNP	G	G	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:167422683G>C	ENST00000392750.2	-	4	514	c.96_splice	c.e4-1	p.L33_splice	PDCD10_ENST00000487947.2_Splice_Site_p.L33_splice|PDCD10_ENST00000497056.2_Splice_Site_p.L33_splice|PDCD10_ENST00000461494.1_Splice_Site_p.L33_splice|PDCD10_ENST00000473645.2_Splice_Site_p.L33_splice|PDCD10_ENST00000471885.1_Splice_Site_p.L33_splice|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000470131.1_Splice_Site_p.L33_splice	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	33					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ACTCGTTCTAGCTGCaataaa	0.333000													13	62					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417689	25417689	+	RNA	SNP	C	C	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr15:25417689C>G	ENST00000549301.1	+	0	467				SNHG14_ENST00000553149.1_RNA																							TGAAGCTCAGCCCTCCCTGGC	0.637000													5	77					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111988789	111988789	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:111988789G>A	ENST00000305815.5	-	7	1001	c.749C>T	c.(748-750)tCa>tTa	p.S250L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.S250L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	250					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATACAGAATTGAAAAGATGAG	0.284000													52	142					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41009498	41009498	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:41009498T>C	ENST00000399564.4	-	32	3754	c.3304A>G	c.(3304-3306)Aca>Gca	p.T1102A	MROH2B_ENST00000506092.2_Missense_Mutation_p.T657A	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTCCACAATGTCTTTGTGTCC	0.478000													32	274					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157128	26157128	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:26157128T>C	ENST00000325250.1	+	2	213	c.26T>C	c.(25-27)cTc>cCc	p.L9P		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	9							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGAGTAAGCTCCGTGCCCGT	0.542000													3	24					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28848065	28848065	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:28848065C>T	ENST00000340394.8	+	23	3314	c.3102C>T	c.(3100-3102)tcC>tcT	p.S1034S	ATXN2L_ENST00000564304.1_Silent_p.S1058S|ATXN2L_ENST00000395547.2_3'UTR|ATXN2L_ENST00000382686.4_Intron|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000336783.4_3'UTR|ATXN2L_ENST00000570200.1_Silent_p.S1052S|ATXN2L_ENST00000325215.6_Intron	NM_148415.2|NM_148416.2	NP_680781.1|NP_680782.1	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1032						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCATCCCTCCCAGCAGCTCC	0.587000													19	87					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981080	61981080	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:61981080C>T	ENST00000370263.4	-	5	1904	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	561					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCAGGGCCGGCGACAGGGGCA	0.657000													14	136					0	0	1	0	0
TMOD4	29765	broad.mit.edu	37	1	151146953	151146953	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:151146953C>A	ENST00000416280.2	-	3	293	c.194G>T	c.(193-195)cGa>cTa	p.R65L				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	117					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGGCCTCTCGGTCCAGTGG	0.547000													58	221					5.82089e-37	6.49438e-37	1	1	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			37	32					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795744	69795744	+	Silent	SNP	T	T	C	rs112675774		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:69795744T>C	ENST00000251566.4	-	6	1401	c.1371A>G	c.(1369-1371)cgA>cgG	p.R457R	UGT2A3_ENST00000420231.2_Silent_p.R168R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	457						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAGACTGCTCGATCTAGGG	0.453000													6	217					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101395454	101395454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:101395454C>T	ENST00000312938.4	-	1	885	c.305G>A	c.(304-306)tGg>tAg	p.W102*	ZBTB11-AS1_ENST00000536865.1_5'UTR|ZBTB11_ENST00000461821.1_Nonsense_Mutation_p.W102*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCACCTCGCCACCAGTACGT	0.697000													9	12					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115398159	115398159	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:115398159C>T	ENST00000369522.3	+	2	314	c.74C>T	c.(73-75)cCt>cTt	p.P25L	SYCP1_ENST00000369518.1_Missense_Mutation_p.P25L	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	25	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGTGAAACCTCAGACCCTG	0.418000													12	21					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140454503	140454503	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:140454503T>C	ENST00000274031.3	-	3	824	c.188A>G	c.(187-189)tAt>tGt	p.Y63C	SETD7_ENST00000406354.1_Missense_Mutation_p.M46V|SETD7_ENST00000506866.2_Missense_Mutation_p.Y63C|SETD7_ENST00000404104.3_Missense_Mutation_p.Y63C	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	63					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATCATCCACATAATACCCCTC	0.498000													29	20					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2593924	2593924	+	Missense_Mutation	SNP	C	C	T	rs138165699		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:2593924C>T	ENST00000358864.1	+	14	1843	c.1828C>T	c.(1828-1830)Cgg>Tgg	p.R610W	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	610						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGTTTTGTGCGGTTCATGAA	0.498000													4	127					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060899	12060899	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:12060899C>T	ENST00000482090.1	+	3	2424	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S687F|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GGATTCACATCTGCCAAGATT	0.363000													22	79					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102586776	102586776	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:102586776C>T	ENST00000370296.2	+	11	1734	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PAX2_ENST00000428433.1_Silent_p.F367F|PAX2_ENST00000361791.3_Missense_Mutation_p.S372F|PAX2_ENST00000355243.3_Silent_p.F344F|PAX2_ENST00000556085.1_Silent_p.F343F			Q02962	PAX2_HUMAN	paired box 2	0					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGAGCGAGTTCTCCGGCAACC	0.677000													16	39					0	0	1	0	0
TMEM183A	92703	broad.mit.edu	37	1	202977833	202977833	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:202977833G>A	ENST00000367242.3	+	3	342	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			TTCTGGGGCTGGTGAGCCCTG	0.473000													9	96					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49427983	49427983	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:49427983C>T	ENST00000301067.7	-	38	10606	c.10607G>A	c.(10606-10608)cGc>cAc	p.R3536H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCGGGACTTGCGGTGTACACC	0.557000													5	171					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19153390	19153390	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr18:19153390A>T	ENST00000269214.5	-	4	2352	c.1415T>A	c.(1414-1416)aTt>aAt	p.I472N		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	472					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GGTTTTATTAATTTCTACTGT	0.318000													62	130					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91456856	91456856	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr15:91456856C>T	ENST00000360468.3	+	18	2749	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	MAN2A2_ENST00000430376.2_Missense_Mutation_p.R101W|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R419W|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R911W	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	911					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGCCCCGACGGTATCTGAA	0.627000													8	16					0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91094274	91094274	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr8:91094274C>A	ENST00000265431.3	-	2	317	c.136G>T	c.(136-138)Gcg>Tcg	p.A46S		NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	46	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCTTTCGCGCCTGCTGGAGC	0.443000													10	317					5.50884e-06	5.72072e-06	1	1	0
ASPSCR1	79058	broad.mit.edu	37	17	79973059	79973059	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr17:79973059G>A	ENST00000306729.7	+	13	1559	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306739.4_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	488							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGGAGGCGACGTGGACTCTGG	0.627000			T	TFE3	alveolar soft part sarcoma								20	93					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914239	111914239	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:111914239C>T	ENST00000371968.3	-	2	619	c.380G>A	c.(379-381)gGa>gAa	p.G127E	LHFPL1_ENST00000536453.1_Missense_Mutation_p.G127E|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	127						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						AGTCTTACCTCCAACAAACTG	0.572000													7	54					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175091	51175091	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:51175091C>T	ENST00000440970.1	-	2	1182	c.751G>A	c.(751-753)Gtt>Att	p.V251I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.V348I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	348					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGGTGGTAACTGCCGCTGCC	0.532000													29	130					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90168949	90168949	+	Silent	SNP	C	C	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:90168949C>A	ENST00000333209.3	-	2	2831	c.2313G>T	c.(2311-2313)ccG>ccT	p.P771P		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	771										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACACAGAAGACGGGGCAGGAC	0.453000													6	134					0.000157383	0.000162189	1	1	0
CHPT1	56994	broad.mit.edu	37	12	102117511	102117511	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:102117511G>T	ENST00000549872.1	+	7	1141	c.951G>T	c.(949-951)atG>atT	p.M317I	CHPT1_ENST00000229266.3_Missense_Mutation_p.M317I			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	317					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAGCTCACATGACCAAAAGTG	0.274000													4	37					0.00024832	0.000253964	1	1	0
BPIFB2	80341	broad.mit.edu	37	20	31607497	31607497	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:31607497G>A	ENST00000170150.3	+	11	1216	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	341						extracellular region	lipid binding										GCAGCCCTTCGTGGAGGTCCT	0.642000													8	38					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37418911	37418911	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:37418911C>T	ENST00000374660.1	+	2	243	c.144C>T	c.(142-144)ggC>ggT	p.G48G	ANKRD30A_ENST00000602533.1_Silent_p.G48G|ANKRD30A_ENST00000361713.1_Silent_p.G48G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	104						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCCTTGATGGCGAACACAGGA	0.418000													13	54					0	0	1	0	0
CHMP3	51652	broad.mit.edu	37	2	86756512	86756512	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:86756512T>C	ENST00000263856.4	-	3	243	c.115A>G	c.(115-117)Aga>Gga	p.R39G	RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.R68G|CHMP3_ENST00000439940.2_Missense_Mutation_p.R68G|CHMP3_ENST00000409727.1_Missense_Mutation_p.R39G|CHMP3_ENST00000409225.2_5'UTR	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1			charged multivesicular body protein 3																		TCTTCTTCTCTTTGGATATCT	0.373000													24	54					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													5	92					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	15995643	15995643	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr4:15995643G>A	ENST00000505450.1	-	15	2319	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	PROM1_ENST00000539194.1_Silent_p.S578S|PROM1_ENST00000543373.1_Silent_p.S569S|PROM1_ENST00000508167.1_Silent_p.S569S|PROM1_ENST00000510224.1_Silent_p.S578S|PROM1_ENST00000540805.1_Silent_p.S578S|PROM1_ENST00000447510.2_Silent_p.S578S	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	578					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGATATTGAAGCTGTTCTGCA	0.398000													4	121					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37965888	37965888	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:37965888G>C	ENST00000357972.5	+	11	1744	c.1198G>C	c.(1198-1200)Gac>Cac	p.D400H	SYTL5_ENST00000456733.2_Missense_Mutation_p.D422H|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.D400H			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	400					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGAAACGGGAGACTATGGCAA	0.413000													27	26					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085145	80085145	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:80085145C>T	ENST00000466387.1	+	8	1029	c.305C>T	c.(304-306)aCg>aTg	p.T102M	CTNNA2_ENST00000496558.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T136M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.T102M			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	102					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAGGTGAGACGATGCGGATC	0.547000													68	120					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431039	135431039	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chrX:135431039C>T	ENST00000394143.1	+	6	5465	c.5174C>T	c.(5173-5175)tCc>tTc	p.S1725F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1520F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1520F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1725F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1662F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1725					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTAACAGGTCCCTATCTACT	0.418000													42	90					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169801270	169801270	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:169801270C>T	ENST00000263817.6	-	21	2579	c.2455G>A	c.(2455-2457)Gcc>Acc	p.A819T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	819	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTAGCAAAGGCATATCCCTAA	0.363000													5	72					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													4	69					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275912	130275912	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:130275912C>T	ENST00000257359.6	-	9	2917	c.2211G>A	c.(2209-2211)acG>acA	p.T737T		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	737	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCCCATCAGCCGTCTTCAGCG	0.572000													33	139					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97621033	97621033	+	Silent	SNP	G	G	A	rs139062728	by1000genomes	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:97621033G>A	ENST00000275053.4	-	19	3010	c.2745C>T	c.(2743-2745)tcC>tcT	p.S915S	MMS22L_ENST00000369251.2_Silent_p.S875S	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	915					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGTATTCCAAGGACTTTGTGA	0.368000													20	76					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95221315	95221315	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr7:95221315G>A	ENST00000005178.5	-	6	876	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	227	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ACTTGTGTAAGCTTTAATTCT	0.289000													9	171					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905610	23905610	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:23905610T>A	ENST00000382298.3	-	10	12993	c.12405A>T	c.(12403-12405)aaA>aaT	p.K4135N	SACS_ENST00000402364.1_Missense_Mutation_p.K3385N|SACS_ENST00000382292.3_Missense_Mutation_p.K4135N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4135					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGTCAAGTTTCTCACCAA	0.388000													17	166					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587488	36587488	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr22:36587488A>G	ENST00000332987.1	-	7	1101	c.679T>C	c.(679-681)Tct>Cct	p.S227P	APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.S230P			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	231					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						AGTGCAAAAGAAAGCACATTG	0.473000													28	86					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511638	195511638	+	Silent	SNP	G	G	C	rs71634713		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:195511638G>C	ENST00000463781.3	-	2	7272	c.6813C>G	c.(6811-6813)acC>acG	p.T2271T	MUC4_ENST00000475231.1_Silent_p.T2271T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	40					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGAGGTGGCGTGAC	0.592000													4	5					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27369064	27369064	+	Silent	SNP	C	C	T	rs141811950	by1000genomes	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:27369064C>T	ENST00000244576.4	+	3	1460	c.915C>T	c.(913-915)caC>caT	p.H305H		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAAAGCCTCACGAGTGTAGAG	0.478000													20	57					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471441	103471441	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:103471441G>C	ENST00000358392.2	-	18	2151	c.1834C>G	c.(1834-1836)Cga>Gga	p.R612G	COL11A1_ENST00000512756.1_Missense_Mutation_p.R484G|COL11A1_ENST00000370096.3_Missense_Mutation_p.R600G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R561G|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	600	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCAAACCCTCGATCTCCCTGT	0.373000													33	120					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206646649	206646649	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:206646649C>T	ENST00000367120.3	+	3	452	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	IKBKE_ENST00000537984.1_Intron|IKBKE_ENST00000462698.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	27	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GTACAAGGCCCGCAACAAGGT	0.637000													5	15					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237865278	237865278	+	Splice_Site	SNP	T	T	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr1:237865278T>C	ENST00000366574.2	+	66	9685	c.9367_splice	c.e66-1	p.L3123_splice	RYR2_ENST00000360064.6_Splice_Site_p.L3121_splice|RYR2_ENST00000542537.1_Splice_Site_p.L3107_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3123					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTCCTTAGTGGAAGATGTC	0.348000													7	27					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	604					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGACTTTGCCGCAATCTTGAA	0.507000													6	618					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130649199	130649199	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:130649199A>G	ENST00000229030.4	+	1	2196	c.1712A>G	c.(1711-1713)tAt>tGt	p.Y571C	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	571					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CACGGGAAATATGAGATCCCT	0.557000													9	39					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2237366	2237366	+	Silent	SNP	C	C	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:2237366C>T	ENST00000343516.6	-	7	806	c.714G>A	c.(712-714)cgG>cgA	p.R238R		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	238					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCAGCAGCAGCCGCACCACCT	0.652000													52	92					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													4	56					0	0	1	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078787	107078787	+	RNA	SNP	G	G	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:107078787G>T	ENST00000390628.2	-	0	82																											ACCAAGAAGAGGACCCTCCAA	0.542000													20	110					6.33239e-15	6.83898e-15	1	1	0
MGAT5	4249	broad.mit.edu	37	2	135095943	135095943	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:135095943C>G	ENST00000409645.1	+	7	1011	c.759C>G	c.(757-759)atC>atG	p.I253M	MGAT5_ENST00000281923.2_Missense_Mutation_p.I253M			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	253					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCCAAGCAATCAAGTCCCTGG	0.403000													28	102					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384456	25384457	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs10654394	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr2:25384456_25384457insGCCGCTGCT	ENST00000405623.1	-	3	752_753	c.297_298insAGCAGCGGC	c.(295-300)ggcagg>ggAGCAGCGGCcagg	p.99_100GR>GAAAR	POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR			P01189	COLI_HUMAN	proopiomelanocortin	99			Missing.		cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TTCTGCCCTGCgccgctgctgc	0.728													5	7	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcfs	p.S143fs	FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418													8	202	---	---	---	---					
IRX2	153572	broad.mit.edu	37	5	2749007	2749018	+	In_Frame_Del	DEL	TCCTCGTCGTCG	TCCTCGTCGTCG	-	rs111614286		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr5:2749007_2749018delTCCTCGTCGTCG	ENST00000382611.6	-	3	1052_1063	c.804_815delCGACGACGAGGA	c.(802-816)gag>ga	p.DDDEE268del	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_In_Frame_Del_p.DDDEE268del	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCGCTCGCCCTCCTCGTCGTCGTCCTCGTCGT	0.736													13	106	---	---	---	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr6:89891719_89891721delAAG	ENST00000435811.1	-	7	1255_1257	c.801_803delCTT	c.(799-804)ttg>tt	p.FL267del	GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del|GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													7	161	---	---	---	---					
GRID1	2894	broad.mit.edu	37	10	87373264	87373265	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr10:87373264_87373265insT	ENST00000327946.7	-	15	2585_2586	c.2500_2501insA	c.(2500-2502)cttfs	p.L834fs	GRID1_ENST00000536331.1_Frame_Shift_Ins_p.L405fs	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	834						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GATGCAGAAGACCCCGGCGAAG	0.658										Multiple Myeloma(13;0.14)			17	69	---	---	---	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs145320037		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr11:6432090_6432092delTCC	ENST00000389906.2	-	2	585_587	c.486_488delGGA	c.(484-489)gat>ga	p.ED162del	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635													7	58	---	---	---	---					
PIK3C2G	5288	broad.mit.edu	37	12	18699269	18699269	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr12:18699269delG	ENST00000433979.1	+	25	3486	c.3370delG	c.(3370-3372)gafs	p.G1124fs	PIK3C2G_ENST00000266497.5_Frame_Shift_Del_p.G1124fs|PIK3C2G_ENST00000538779.1_Frame_Shift_Del_p.G1165fs	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1124	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCTGTATGCAGGACTGCCTGA	0.378													19	9	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41704634	41704636	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:41704634_41704636delCTA	ENST00000379485.1	-	1	2246_2248	c.2012_2014delTAG	c.(2011-2016)gcg>g	p.VA671del	KBTBD6_ENST00000499385.2_In_Frame_Del_p.VA605del	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	671							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CACTGAGGCGCTACACGCACCCA	0.394													19	44	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52803642	52803643	+	RNA	DEL	TT	TT	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr13:52803642_52803643delTT	ENST00000451298.1	-	0	938				RP11-64P12.8_ENST00000606031.1_RNA																							CAGTTTTCCCTTTTTTTTTTTT	0.332													2	4	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													4	5	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gct>gc	p.AA162del		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749													6	3	---	---	---	---					
PPL	5493	broad.mit.edu	37	16	4954018	4954019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr16:4954018_4954019insC	ENST00000345988.2	-	3	274_275	c.185_186insG	c.(184-186)gcgfs	p.A62fs	PPL_ENST00000590782.2_Frame_Shift_Ins_p.A62fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	62					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CAGGCTGCCGACCCTCCTGCAG	0.619													20	32	---	---	---	---					
GFRA4	64096	broad.mit.edu	37	20	3641501	3641501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:3641501delG	ENST00000290417.2	-	3	402	c.403delC	c.(403-405)tgfs	p.L135fs	GFRA4_ENST00000319242.3_Frame_Shift_Del_p.P161fs	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	135						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						TGAAAGGCCAGGAGGCGAGGC	0.801													2	4	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-IQ-A6SH-01A-12D-A34J-08	TCGA-IQ-A6SH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a20796c-e49a-4f29-9c07-c9bea6207383	17f81a2e-2b6c-418f-a3d7-ca63149209a7	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)caa>ca	p.QQ1030del	NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576													7	198	---	---	---	---					
