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
KIAA1751	85452	broad.mit.edu	37	1	1900084	1900084	+	Missense_Mutation	SNP	G	G	A	rs150108692	by1000genomes	TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:1900084G>A	uc001aim.1	-	10	1391	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	KIAA1751_uc009vkz.1_Missense_Mutation_p.T412M	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	412										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGTGTGTACGTGTTGGTTGG	0.582												
MTF1	4520	broad.mit.edu	37	1	38323155	38323155	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:38323155T>C	uc001cce.1	-	1	317	c.176A>G	c.(175-177)gAg>gGg	p.E59G	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	59						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCTTCATCCTCCAAAGTGCC	0.488												
WDR65	149465	broad.mit.edu	37	1	43649424	43649424	+	Missense_Mutation	SNP	G	G	A	rs142914910		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:43649424G>A	uc021omk.1	+	3	783	c.637G>A	c.(637-639)Gtt>Att	p.V213I	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.V202I|WDR65_uc001ciq.2_Missense_Mutation_p.V213I|WDR65_uc001cip.2_Missense_Mutation_p.V213I	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	213										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGATTGTCGTTGGCACTGA	0.502												
RAD54L	8438	broad.mit.edu	37	1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	rs149141765		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:46726266C>T	uc001cpl.2	+	5	1171	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_uc009vye.2_Missense_Mutation_p.R154W	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	154					meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.R154W(2)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGTTTTGCGGCCTCATCA	0.537								Direct reversal of damage;Homologous recombination				
LMX1A	4009	broad.mit.edu	37	1	165177351	165177351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:165177351G>A	uc001gcz.2	-	6	960	c.766C>T	c.(766-768)Cga>Tga	p.R256*	LMX1A_uc021pdz.1_Nonsense_Mutation_p.R256*|LMX1A_uc021pdy.1_Nonsense_Mutation_p.R7*|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	256	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGCTGCTGTCGCCTGGCCAGC	0.562												
CTGLF12P	414224	broad.mit.edu	37	10	49218498	49218498	+	Silent	SNP	A	A	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:49218498A>G	uc001jgd.3	-	7	1800	c.1641T>C	c.(1639-1641)tcT>tcC	p.S547S	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		GCTGGCCCAGAGACAGCTCAG	0.582												
CTGLF12P	414224	broad.mit.edu	37	10	49218553	49218553	+	Missense_Mutation	SNP	T	T	C	rs77581903		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:49218553T>C	uc001jgd.3	-	7	1745	c.1586A>G	c.(1585-1587)cAt>cGt	p.H529R	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATATTTGGAATGGATCCAGCG	0.567												
KIF20B	9585	broad.mit.edu	37	10	91498196	91498196	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:91498196A>G	uc001kgs.1	+	19	3670	c.3598A>G	c.(3598-3600)Aat>Gat	p.N1200D	KIF20B_uc001kgr.1_Missense_Mutation_p.N1160D|KIF20B_uc001kgt.1_Missense_Mutation_p.N411D|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1200					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTAGAAAGAAATTTGAAGGA	0.318												
ZNF518A	9849	broad.mit.edu	37	10	97916083	97916083	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:97916083C>T	uc001klp.3	+	5	861	c.4C>T	c.(4-6)Cca>Tca	p.P2S	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.P2S|ZNF518A_uc001klr.3_Missense_Mutation_p.P2S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTAAATCATGCCATCTGAACA	0.308												
HEPHL1	341208	broad.mit.edu	37	11	93826783	93826783	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr11:93826783G>A	uc001pep.2	+	12	2568	c.2411G>A	c.(2410-2412)cGa>cAa	p.R804Q	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	804	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGACCACCACGAGAGGAGCAC	0.483												
PGR	5241	broad.mit.edu	37	11	100920711	100920711	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr11:100920711C>A	uc001pgh.2	-	5	3180	c.2437G>T	c.(2437-2439)Gtt>Ttt	p.V813F	PGR_uc001pgg.2_Missense_Mutation_p.V194F|PGR_uc001pgi.2_Missense_Mutation_p.V711F|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	813	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCTTGGCTAACTTGAAGCTTG	0.368												
NTF3	4908	broad.mit.edu	37	12	5603770	5603770	+	Silent	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr12:5603770G>A	uc001qnl.4	+	0	473	c.390G>A	c.(388-390)gcG>gcA	p.A130A	NTF3_uc001qnk.4_Silent_p.A143A	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	130					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CCGTGGTGGCGAACAGAACAT	0.602												
C1S	716	broad.mit.edu	37	12	7177641	7177641	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr12:7177641G>A	uc001qsj.3	+	14	2472	c.1753G>A	c.(1753-1755)Gca>Aca	p.A585T	C1S_uc001qsk.3_Missense_Mutation_p.A585T|C1S_uc001qsl.3_Missense_Mutation_p.A585T|C1S_uc009zfr.3_Missense_Mutation_p.A418T|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	585	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CCTCAAGGCGGCAAGGTTACC	0.512												
SPPL2A	84888	broad.mit.edu	37	15	51041869	51041869	+	Silent	SNP	A	A	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr15:51041869A>G	uc001zyv.3	-	1	321	c.141T>C	c.(139-141)ccT>ccC	p.P47P		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	47						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTGTCCAATAAGGGTTATAAA	0.418												
ACAP1	9744	broad.mit.edu	37	17	7250193	7250193	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:7250193C>A	uc002ggd.2	+	12	1280	c.1074C>A	c.(1072-1074)agC>agA	p.S358R		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	358	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCAGAGCAGCATTGCTTCTG	0.637												
TNS4	84951	broad.mit.edu	37	17	38635988	38635988	+	Silent	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:38635988C>T	uc010cxb.3	-	9	2012	c.1848G>A	c.(1846-1848)acG>acA	p.T616T	TNS4_uc002huu.4_Intron	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	616	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P615S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCACGGTGGGCGTGGGGAGGA	0.617												
KRTAP4-11	653240	broad.mit.edu	37	17	39274446	39274446	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:39274446C>T	uc002hvz.3	-	0	161	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	41	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGACAGTAGGT	0.667												
ARL4D	379	broad.mit.edu	37	17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:41477126C>T	uc002idt.3	+	1	207	c.26C>T	c.(25-27)gCg>gTg	p.A9V	ARL4D_uc021txy.1_Missense_Mutation_p.A9V	NM_001661	NP_001652	P49703	ARL4D_HUMAN	Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.	9					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572												
TUBB4A	10382	broad.mit.edu	37	19	6495656	6495656	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:6495656G>A	uc002mfg.1	-	3	961	c.854C>T	c.(853-855)aCg>aTg	p.T285M	TUBB4A_uc002mff.1_Missense_Mutation_p.T213M|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	285					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CTCGGGCACCGTCAGGGCCCG	0.672												
VAV1	7409	broad.mit.edu	37	19	6843162	6843162	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:6843162T>C	uc002mfu.1	+	21	2094	c.1997T>C	c.(1996-1998)cTg>cCg	p.L666P	VAV1_uc010xjh.1_Missense_Mutation_p.L634P|VAV1_uc010dva.1_Missense_Mutation_p.L644P|VAV1_uc002mfv.1_Missense_Mutation_p.L611P	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	666					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTCAGGACCTGTCTGTTCAT	0.488												
ZNF701	55762	broad.mit.edu	37	19	53086225	53086228	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:53086225_53086228delAAGG	uc010ydn.2	+	4	1174_1177	c.1111_1114delAAGG	c.(1111-1116)aaggttfs	p.K371fs	ZNF701_uc002pzs.2_Frame_Shift_Del_p.K305fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.K371fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGAATGTGGCAAGGTTTTTAATCA	0.387												
CDC42EP3	10602	broad.mit.edu	37	2	37873026	37873026	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:37873026C>A	uc021vfz.1	-	0	705	c.705G>T	c.(703-705)caG>caT	p.Q235H	CDC42EP3_uc002rqi.1_Missense_Mutation_p.Q235H	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	235					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CAAGATCAAGCTGCAGGGAGA	0.463												
LRP1B	53353	broad.mit.edu	37	2	141130669	141130669	+	Missense_Mutation	SNP	C	C	T	rs145915063		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:141130669C>T	uc002tvj.1	-	68	11648	c.10676G>A	c.(10675-10677)cGg>cAg	p.R3559Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3559	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGGAACACCGGAACTGATC	0.368										TSP Lung(27;0.18)		
DFNB59	494513	broad.mit.edu	37	2	179323290	179323290	+	Silent	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:179323290C>T	uc002umi.4	+	4	959	c.603C>T	c.(601-603)ttC>ttT	p.F201F	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Silent_p.F201F	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	201					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTATTGTTTTCCCAGCACATA	0.343												
ITSN1	6453	broad.mit.edu	37	21	35206635	35206635	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr21:35206635G>A	uc002yta.1	+	27	3644	c.3376G>A	c.(3376-3378)Ggc>Agc	p.G1126S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.G1005S|ITSN1_uc002ysy.3_Missense_Mutation_p.G1121S|ITSN1_uc002ysx.3_Missense_Mutation_p.G1084S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.G1050S|ITSN1_uc010gmg.3_Missense_Mutation_p.G1013S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.G1126S|ITSN1_uc010gmi.3_Missense_Mutation_p.G1089S|ITSN1_uc002ytb.1_Missense_Mutation_p.G1121S|ITSN1_uc010gmk.3_Missense_Mutation_p.G1018S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.G1121S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.G989S|ITSN1_uc021wip.1_Missense_Mutation_p.G944S|ITSN1_uc002yti.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1126	SH3 4.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCGCCAGATAGGCTGGTTCCC	0.423												
KRTAP10-3	386682	broad.mit.edu	37	21	45978262	45978262	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr21:45978262C>T	uc002zfj.1	-	0	382	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	113	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						ttgcagcagacgggcacacag	0.647												
P4HTM	54681	broad.mit.edu	37	3	49042445	49042445	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:49042445G>A	uc003cvh.3	+	5	1388	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	P4HTM_uc003cvg.3_Missense_Mutation_p.A347T|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	347	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CAAGCTGGTAGCCAACGAGTC	0.587												
ATR	545	broad.mit.edu	37	3	142281611	142281611	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:142281611C>T	uc003eux.4	-	3	755	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	211			M -> T (in dbSNP:rs2227928).		cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.M211T(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAGTAAGAACCATTAATAAAG	0.318								Other conserved DNA damage response genes				
YEATS2	55689	broad.mit.edu	37	3	183525871	183525871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:183525871delG	uc003fly.2	+	28	4260	c.4065delG	c.(4063-4065)gtgfs	p.V1355fs	AX746590_uc003fma.1_5'Flank|YEATS2_uc021xie.1_5'Flank	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1355					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGCGTCCGTGGTGGAGGACA	0.562												
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:195965646G>A	uc003fwg.3	-	9	1190	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Silent_p.S339S	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	339	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGTCTTGCCGGAGAAGGGCC	0.607												
CDH9	1007	broad.mit.edu	37	5	26881547	26881547	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:26881547G>A	uc003jgs.1	-	11	2237	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	CDH9_uc011cnv.1_Missense_Mutation_p.R283W	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	690					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTACATCCCGTCTAAGTTTA	0.408												
GDNF	2668	broad.mit.edu	37	5	37815950	37815950	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:37815950C>T	uc011cpi.2	-	2	639	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	GDNF_uc011cpd.2_Missense_Mutation_p.G95S|GDNF_uc011cpe.2_Missense_Mutation_p.G121S|GDNF_uc011cpf.2_Missense_Mutation_p.G121S|GDNF_uc011cpg.2_Missense_Mutation_p.G164S|GDNF_uc011cph.2_Missense_Mutation_p.G138S	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	147					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TCGCAAGAGCCGCTGCAGTAC	0.443												
LNPEP	4012	broad.mit.edu	37	5	96341853	96341853	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:96341853T>C	uc003kmv.1	+	9	2376	c.1862T>C	c.(1861-1863)gTt>gCt	p.V621A	LNPEP_uc003kmw.1_Missense_Mutation_p.V607A	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	621					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTAGTGACTGTTCAAAAGAAA	0.333												
PCDHB5	26167	broad.mit.edu	37	5	140516870	140516870	+	Silent	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:140516870G>A	uc003liq.3	+	0	2071	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	618	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATGTGGGCGCACAATGGCG	0.687												
F13A1	2162	broad.mit.edu	37	6	6196068	6196068	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr6:6196068C>T	uc003mwv.3	-	9	1390	c.1267G>A	c.(1267-1269)Gtc>Atc	p.V423I	F13A1_uc011dib.2_Missense_Mutation_p.V360I	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	423					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGGAAGCAGACATGGCCGTGC	0.498												
GPX5	2880	broad.mit.edu	37	6	28497279	28497279	+	Missense_Mutation	SNP	G	G	A	rs60523386	byFrequency	TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr6:28497279G>A	uc003nll.2	+	1	141	c.139G>A	c.(139-141)Gca>Aca	p.A47T	GPX5_uc003nlm.2_Missense_Mutation_p.A47T|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	47					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.A47T(4)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGAGGCCATCGCACTTAATAA	0.428												
PKHD1	5314	broad.mit.edu	37	6	51609339	51609339	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr6:51609339T>C	uc003pah.1	-	60	10275	c.9999_splice	c.e60-1	p.R3333_splice	PKHD1_uc010jzn.1_Splice_Site_p.R1316_splice|PKHD1_uc003pai.3_Splice_Site_p.R3333_splice	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3333					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTAAATCTTTCCTGTGAAGA	0.383												
COL28A1	340267	broad.mit.edu	37	7	7483281	7483281	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:7483281C>T	uc003src.1	-	19	1702	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	COL28A1_uc011jxe.1_Missense_Mutation_p.E212K|COL28A1_uc003srd.3_Missense_Mutation_p.E84K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	529	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGCCCCGCTTCTCCCTAGAGA	0.517												
GRM3	2913	broad.mit.edu	37	7	86415877	86415877	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:86415877G>A	uc003uid.3	+	2	1868	c.769G>A	c.(769-771)Gac>Aac	p.D257N	GRM3_uc010lef.3_Missense_Mutation_p.D255N|GRM3_uc010leg.3_Missense_Mutation_p.D129N|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	257					synaptic transmission	integral to plasma membrane		p.D257H(2)|p.Y256Y(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAGTCCTACGACAGCGTGAT	0.647												
ABCB1	5243	broad.mit.edu	37	7	87179839	87179839	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:87179839C>G	uc003uiz.2	-	11	1662	c.1169G>C	c.(1168-1170)gGa>gCa	p.G390A	ABCB1_uc011khc.2_Missense_Mutation_p.G326A	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	390					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCCAAATTTCCCTTAATATT	0.313												
NPTX2	4885	broad.mit.edu	37	7	98256632	98256632	+	Silent	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:98256632C>T	uc003upl.2	+	3	1221	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	348	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCGGGGGCGTGCTGATCC	0.677												
FOXP2	93986	broad.mit.edu	37	7	114282648	114282648	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:114282648A>G	uc003vhb.3	+	6	1333	c.959A>G	c.(958-960)cAg>cGg	p.Q320R	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.Q345R|FOXP2_uc003vha.3_Missense_Mutation_p.Q228R|FOXP2_uc011kmv.2_Missense_Mutation_p.Q319R|FOXP2_uc011kmu.2_Missense_Mutation_p.Q337R|FOXP2_uc010ljz.2_Missense_Mutation_p.Q228R|FOXP2_uc003vgx.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhc.3_Missense_Mutation_p.Q345R|FOXP2_uc003vhd.3_Missense_Mutation_p.Q320R	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	320					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			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						GTGAATGGACAGTCTTCAGTT	0.388												
PLXNA4	91584	broad.mit.edu	37	7	131887591	131887591	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:131887591G>T	uc003vra.4	-	11	2629	c.2400C>A	c.(2398-2400)caC>caA	p.H800Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	800						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						ACTTGTAGAGGTGAACTGCAG	0.632												
TRPV6	55503	broad.mit.edu	37	7	142573429	142573429	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:142573429C>T	uc003wbx.2	-	7	1143	c.914G>A	c.(913-915)cGc>cAc	p.R305H	TRPV6_uc003wbw.1_Missense_Mutation_p.R91H|TRPV6_uc010lou.1_Missense_Mutation_p.R176H	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	305					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGATCTGGCGAGCCTGCAA	0.607												
ZYX	7791	broad.mit.edu	37	7	143080299	143080299	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:143080299T>C	uc003wcx.3	+	4	1065	c.907T>C	c.(907-909)Tct>Cct	p.S303P	ZYX_uc011ktd.2_Missense_Mutation_p.S146P|ZYX_uc003wcw.3_Missense_Mutation_p.S303P|ZYX_uc011kte.2_Missense_Mutation_p.S272P|ZYX_uc011ktf.2_Missense_Mutation_p.S146P	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	303					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGAAGCTCTTTCTGCTGGCAC	0.597												
ZFAT	57623	broad.mit.edu	37	8	135612748	135612748	+	Silent	SNP	G	G	A	rs144002982	by1000genomes	TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr8:135612748G>A	uc003yup.3	-	6	2592	c.2406C>T	c.(2404-2406)acC>acT	p.T802T	ZFAT_uc003yun.3_Silent_p.T790T|ZFAT_uc003yuo.3_Silent_p.T790T|ZFAT_uc010meh.3_Silent_p.T790T|ZFAT_uc010mej.3_Silent_p.T740T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.T790T|ZFAT_uc003yur.3_Silent_p.T790T|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACAGCCATCGGTGGGACACT	0.448												
ERCC6L2	375748	broad.mit.edu	37	9	98683552	98683552	+	Silent	SNP	T	T	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr9:98683552T>G	uc010mry.1	+	5	1481	c.393T>G	c.(391-393)ccT>ccG	p.P131P	ERCC6L2_uc010mrx.1_Non-coding_Transcript|ERCC6L2_uc004avt.4_Silent_p.P429P|ERCC6L2_uc011lum.2_Silent_p.P131P|ERCC6L2_uc010mrz.3_Silent_p.P240P|ERCC6L2_uc004avu.3_5'Flank			Q5T890	RAD26_HUMAN	Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.	429					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CTTCTGAGCCTTGTACCTGTA	0.363												
XK	7504	broad.mit.edu	37	X	37587132	37587133	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chrX:37587132_37587133insC	uc004ddq.3	+	2	834_835	c.752_753insC	c.(751-753)tacfs	p.Y251fs		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	251					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TTCTTCTTGTACCCCTGGATCC	0.485												
SMARCA1	6594	broad.mit.edu	37	X	128621040	128621040	+	Missense_Mutation	SNP	T	T	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chrX:128621040T>G	uc011muk.1	-	16	2285	c.2172A>C	c.(2170-2172)caA>caC	p.Q724H	SMARCA1_uc004eun.4_Missense_Mutation_p.Q724H|SMARCA1_uc004eup.4_Missense_Mutation_p.Q712H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q712H	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	724					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGTATAAACTTTGTTCAATGT	0.348