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
PHACTR4	65979	broad.mit.edu	37	1	28800112	28800112	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:28800112G>A	uc001bpy.3	+	5	1135	c.900G>A	c.(898-900)ccG>ccA	p.P300P	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Silent_p.P290P|PHACTR4_uc001bpx.3_Silent_p.P274P	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	290	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAAAACCGTCCCCACCCT	0.463												
C1orf141	400757	broad.mit.edu	37	1	67561965	67561965	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:67561965A>G	uc001ddl.1	-	4	497	c.386T>C	c.(385-387)gTt>gCt	p.V129A	C1orf141_uc001ddm.1_Missense_Mutation_p.V129A|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	129										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TAAGAGACCAACAGAATCCAA	0.259												
WDR63	126820	broad.mit.edu	37	1	85551548	85551548	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:85551548T>A	uc001dkt.3	+	6	766	c.575T>A	c.(574-576)tTt>tAt	p.F192Y	WDR63_uc009wcl.3_Missense_Mutation_p.F192Y	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	192										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CGAAGTGAATTTGGTGCACCA	0.353												
PGLYRP4	57115	broad.mit.edu	37	1	153313050	153313050	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:153313050G>C	uc001fbo.3	-	6	696	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	PGLYRP4_uc001fbp.3_Missense_Mutation_p.P207A	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	211					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAACGCCGGGGCAAGCTGAG	0.587												
KIFAP3	22920	broad.mit.edu	37	1	169951166	169951166	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:169951166G>A	uc001ggv.3	-	14	2016	c.1745C>T	c.(1744-1746)gCt>gTt	p.A582V	KIFAP3_uc021pep.1_Missense_Mutation_p.A542V|KIFAP3_uc010ply.2_Missense_Mutation_p.A504V|KIFAP3_uc001ggw.2_Missense_Mutation_p.A538V|KIFAP3_uc010plx.2_Missense_Mutation_p.A284V	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	582					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.A582V(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGCAATGCAGCACAAGAGTC	0.343												
ANKRD26	22852	broad.mit.edu	37	10	27350076	27350076	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:27350076T>C	uc009xku.1	-	12	1631	c.1459A>G	c.(1459-1461)Atg>Gtg	p.M487V	ANKRD26_uc001itg.2_Intron|ANKRD26_uc001ith.2_Missense_Mutation_p.M487V	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	487						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCATACCCATGTGGGCTACT	0.348												
MPP7	143098	broad.mit.edu	37	10	28409253	28409254	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:28409253_28409254CA>AG	uc001iua.1	-	11	1160_1161	c.756_757TG>CT	c.(754-759)gctggg>gcCTgg	p.G253W	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G253W|MPP7_uc009xla.2_Missense_Mutation_p.G253W|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	253	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAGAAAGCCCAGCTTCCTTAC	0.406												
BMS1	9790	broad.mit.edu	37	10	43316067	43316067	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:43316067G>C	uc001jaj.3	+	16	3239	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	961					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTATATCGAAGACCACAATGG	0.428												
BICC1	80114	broad.mit.edu	37	10	60553292	60553292	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:60553292G>A	uc001jki.1	+	8	1096	c.1096G>A	c.(1096-1098)Gta>Ata	p.V366I	BICC1_uc001jkj.1_Missense_Mutation_p.V7I	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	366					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGAAATTGAAGTAGATCCACA	0.368												
OR5L1	219437	broad.mit.edu	37	11	55579759	55579759	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:55579759G>T	uc001nhw.1	+	0	817	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCTGACAAAGTGGCCACCGT	0.473												
OR5B12	390191	broad.mit.edu	37	11	58207194	58207194	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:58207194A>G	uc010rkh.2	-	0	453	c.431T>C	c.(430-432)aTa>aCa	p.I144T		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGAGCCTATGGCCAGGCA	0.463												
IGHMBP2	3508	broad.mit.edu	37	11	68704092	68704092	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:68704092G>A	uc001ook.1	+	12	2246	c.2144G>A	c.(2143-2145)gGc>gAc	p.G715D	IGHMBP2_uc001ool.1_Missense_Mutation_p.G339D|IGHMBP2_uc001oom.1_Missense_Mutation_p.G293D	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	715					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCAACGGAGGCAGCCCAGAG	0.617												
TMEM133	83935	broad.mit.edu	37	11	100863381	100863381	+	Silent	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:100863381G>T	uc001pgf.3	+	0	571	c.342G>T	c.(340-342)gtG>gtT	p.V114V		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	114						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TTCAAAATGTGCCAGTTCCAC	0.373												
TAS2R9	50835	broad.mit.edu	37	12	10962585	10962585	+	Silent	SNP	A	A	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:10962585A>T	uc001qyx.3	-	0	183	c.90T>A	c.(88-90)gtT>gtA	p.V30V		NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	30					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAATGCAGTTAACTAGTACAA	0.388												
BIN2	51411	broad.mit.edu	37	12	51685543	51685543	+	Silent	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:51685543C>T	uc001ryg.3	-	9	1399	c.1347G>A	c.(1345-1347)agG>agA	p.R449R	BIN2_uc009zlz.3_Silent_p.R417R|BIN2_uc001ryh.3_Silent_p.R325R|BIN2_uc010sng.2_Silent_p.R423R	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	449	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCAAGGAGGCCCTAGGGCTGG	0.612												
R3HDM2	22864	broad.mit.edu	37	12	57648757	57648757	+	Silent	SNP	A	A	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:57648757A>C	uc009zpm.1	-	21	2765	c.2730T>G	c.(2728-2730)ggT>ggG	p.G910G	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.G605G|R3HDM2_uc001snr.2_Silent_p.G637G|R3HDM2_uc001sns.2_Silent_p.G910G|R3HDM2_uc001snt.2_Silent_p.G924G	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	910	Poly-Gly.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGTCCCCCCCACCCCCTCCAG	0.632												
IRAK3	11213	broad.mit.edu	37	12	66638935	66638935	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:66638935C>A	uc001sth.3	+	10	1309	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	IRAK3_uc010ssy.2_Missense_Mutation_p.L342I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	403	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCTCTCATTTCTAGATAAGAA	0.478												
ATP11A	23250	broad.mit.edu	37	13	113510350	113510350	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr13:113510350G>A	uc001vsj.4	+	19	2457	c.2369G>A	c.(2368-2370)aGc>aAc	p.S790N	ATP11A_uc001vsi.4_Missense_Mutation_p.S790N|ATP11A_uc001vsm.1_Missense_Mutation_p.S666N|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	790					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCTGCCGGAGCTGCAGCGCG	0.597												
DCAF11	80344	broad.mit.edu	37	14	24588926	24588926	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr14:24588926T>C	uc001wlv.3	+	10	1193	c.913T>C	c.(913-915)Tcc>Ccc	p.S305P	DCAF11_uc001wlw.3_Missense_Mutation_p.S305P|DCAF11_uc001wlz.3_Missense_Mutation_p.S205P|DCAF11_uc001wly.3_Missense_Mutation_p.S261P|DCAF11_uc010tny.2_Missense_Mutation_p.S172P|DCAF11_uc001wmc.3_Missense_Mutation_p.S205P|DCAF11_uc001wmb.4_Missense_Mutation_p.S279P|DCAF11_uc001wma.4_Missense_Mutation_p.S305P	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	305						CUL4 RING ubiquitin ligase complex	protein binding										CTAGATTGAGTCCCATGAGGA	0.483												
GRAMD2	196996	broad.mit.edu	37	15	72460907	72460907	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:72460907T>C	uc002atq.3	-	4	217	c.193_splice	c.e4-1	p.I65_splice	GRAMD2_uc010bis.2_Splice_Site_p.I65_splice	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	65						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTCAGTGTTATCTGCAAACAC	0.542												
IDH3A	3419	broad.mit.edu	37	15	78454015	78454015	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:78454015G>T	uc002bdd.3	+	4	409	c.382G>T	c.(382-384)Gtc>Ttc	p.V128F	IDH3A_uc010umt.2_Intron|IDH3A_uc010umu.2_Missense_Mutation_p.V19F|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.V78F|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.V41F	NM_005530	NP_005521	P50213	IDH3A_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	128					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CCGACCATGTGTCTCTATCGA	0.443												
GOLGA6L10	647042	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:83014106T>C	uc021ssz.1	-	5	577	c.441A>G	c.(439-441)gtA>gtG	p.V147V	LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript			A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	159								p.V159V(12)		endometrium(1)|kidney(4)	5						GTAGCTGCTCTACCTTAGATG	0.498												
PARN	5073	broad.mit.edu	37	16	14704541	14704541	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:14704541T>C	uc010uzd.2	-	6	660	c.514A>G	c.(514-516)Acg>Gcg	p.T172A	PARN_uc010uzc.2_Missense_Mutation_p.T111A|PARN_uc010uze.2_Missense_Mutation_p.T126A|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	172					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TCAGGAATCGTGACAGGACAT	0.408												
ZNF646	9726	broad.mit.edu	37	16	31087887	31087887	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:31087887G>A	uc002eap.3	+	1	531	c.242G>A	c.(241-243)gGc>gAc	p.G81D	ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.G81D	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACCACCTGTGGCAAGGACTTC	0.627												
NXN	64359	broad.mit.edu	37	17	722696	722696	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:722696C>T	uc002fsa.3	-	4	883	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	NXN_uc002fsb.1_Missense_Mutation_p.R155Q|NXN_uc010vqd.2_Missense_Mutation_p.R19Q|NXN_uc010vqe.2_Missense_Mutation_p.R160Q	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	268	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCGTACAGCCGGTTGAGGCG	0.607												
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)		
KRT9	3857	broad.mit.edu	37	17	39727935	39727935	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:39727935C>T	uc002hxe.4	-	0	376	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	104	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ctactatagcctcctccagaa	0.572												
ABCA9	10350	broad.mit.edu	37	17	67012462	67012462	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:67012462T>C	uc002jhu.3	-	21	3114	c.2971A>G	c.(2971-2973)Agc>Ggc	p.S991G	ABCA9_uc010dez.3_Missense_Mutation_p.S991G	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	991					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGTCCATTGCTAATGACATCC	0.348												
RECQL5	9400	broad.mit.edu	37	17	73627684	73627684	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:73627684C>T	uc010dgl.3	-	8	1503	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	RECQL5_uc010dgk.3_Missense_Mutation_p.D405N|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	432					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCAGTGGTCGCAGCCTTTG	0.701								Other identified genes with known or suspected DNA repair function				
NDUFV2	4729	broad.mit.edu	37	18	9124948	9124948	+	Silent	SNP	C	C	T	rs143576401	byFrequency	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr18:9124948C>T	uc002knu.3	+	5	660	c.546C>T	c.(544-546)aaC>aaT	p.N182N		NM_021074	NP_066552	P19404	NDUV2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	182					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	CCTGTGTGAACGCACCAATGG	0.313												
GRIN3B	116444	broad.mit.edu	37	19	1004870	1004870	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:1004870A>G	uc002lqo.1	+	2	1370	c.1370A>G	c.(1369-1371)gAc>gGc	p.D457G		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	457					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCCACCCTGGACGCACTGTTC	0.672												
PTPRS	5802	broad.mit.edu	37	19	5211663	5211663	+	Silent	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:5211663C>T	uc002mbv.3	-	32	5406	c.5172G>A	c.(5170-5172)ctG>ctA	p.L1724L	PTPRS_uc002mbu.1_Silent_p.L1293L|PTPRS_uc010xin.2_Silent_p.L1266L|PTPRS_uc002mbw.3_Silent_p.L1686L|PTPRS_uc002mbx.3_Silent_p.L1281L|PTPRS_uc002mby.3_Silent_p.L1277L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1724	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGATGGGTTGCAGACAGACCC	0.562												
C3	718	broad.mit.edu	37	19	6711035	6711035	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:6711035C>T	uc002mfm.3	-	11	1504	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	481					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCGTGGGCGCGGTCCATTCG	0.607												
PDE4C	5143	broad.mit.edu	37	19	18331288	18331288	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:18331288G>A	uc010xqc.2	-	5	1113	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PDE4C_uc002nik.4_Silent_p.D211D|PDE4C_uc002nil.4_Silent_p.D211D|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.D105D|PDE4C_uc002nii.4_Silent_p.D179D|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Nonsense_Mutation_p.R195*	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	211				D -> Y (in Ref. 2; AAD47053/AAD47054).	signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGTCCAGCTCGTCTAGCGTCT	0.672												
SBSN	374897	broad.mit.edu	37	19	36017633	36017633	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:36017633G>T	uc002oad.2	-	0	1621	c.1551C>A	c.(1549-1551)caC>caA	p.H517Q	SBSN_uc002oae.2_Missense_Mutation_p.H174Q|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	174						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGCAGCATGGTGGGCACCTT	0.582												
ZNF569	148266	broad.mit.edu	37	19	37904719	37904719	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:37904719G>T	uc002ogj.3	-	8	1845	c.913C>A	c.(913-915)Cag>Aag	p.Q305K	ZNF569_uc002ogh.3_Missense_Mutation_p.Q122K|ZNF569_uc002ogi.3_Missense_Mutation_p.Q281K	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K305R(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATTTCTGGCTGAAGGAC	0.358												
ZNF155	7711	broad.mit.edu	37	19	44500816	44500816	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:44500816C>A	uc010xwt.1	+	5	1024	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF155_uc002oxy.1_Missense_Mutation_p.F269L|ZNF155_uc002oxz.1_Missense_Mutation_p.F269L	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGAAGGCCTTCATTCATGATT	0.398												
PNMAL1	55228	broad.mit.edu	37	19	46973358	46973359	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:46973358_46973359CA>AT	uc002peq.4	-	1	1240_1241	c.934_935TG>AT	c.(934-936)tgg>ATg	p.W312M	PNMAL1_uc002per.4_Missense_Mutation_p.W312M	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	312										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGGACCCTTCCAGGCACATTTC	0.584												
APOB	338	broad.mit.edu	37	2	21230155	21230155	+	Missense_Mutation	SNP	C	C	G	rs141840973		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21230155C>G	uc002red.3	-	25	9713	c.9585G>C	c.(9583-9585)gaG>gaC	p.E3195D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3195	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E3195Q(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACTGATAAACTCACAAAGCA	0.323												
APOB	338	broad.mit.edu	37	2	21246441	21246441	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21246441T>C	uc002red.3	-	16	2688	c.2560A>G	c.(2560-2562)Att>Gtt	p.I854V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	854					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCGGGAGCAATGACTCCAGAT	0.423												
SPTBN1	6711	broad.mit.edu	37	2	54857158	54857158	+	Silent	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:54857158C>A	uc002rxu.3	+	14	3048	c.2799C>A	c.(2797-2799)ctC>ctA	p.L933L	SPTBN1_uc002rxx.3_Silent_p.L920L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	933					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGACAAACTCAACACAAGGT	0.582												
WDR33	55339	broad.mit.edu	37	2	128471476	128471476	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:128471476T>C	uc002tpg.2	-	17	3188	c.2989A>G	c.(2989-2991)Agg>Ggg	p.R997G		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	997					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGACCCCTGCAGTCCTGG	0.647												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
COL18A1	80781	broad.mit.edu	37	21	46925140	46925141	+	In_Frame_Ins	INS	-	-	GGCCCCCCA			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr21:46925140_46925141insGGCCCCCCA	uc002zhi.3	+	33	3522_3523	c.3501_3502insGGCCCCCCA	c.(3499-3504)insGGCCCCCCA	p.1176_1177insGPP	COL18A1_uc002zhg.3_In_Frame_Ins_p.996_997insGPP|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_5'UTR|COL18A1_uc002zhk.3_5'Flank	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1411	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGGCCCTCCCGGCCCCCCAGG	0.733												
GAS2L1	10634	broad.mit.edu	37	22	29707873	29707873	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:29707873G>A	uc003afa.1	+	6	1629	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.R477H|GAS2L1_uc003afd.1_Missense_Mutation_p.A478T|GAS2L1_uc003afe.1_Missense_Mutation_p.A478T	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	478					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCCCGTGCCCGCAGCCCTGCA	0.711												
EP300	2033	broad.mit.edu	37	22	41564740	41564740	+	Silent	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:41564740A>G	uc003azl.4	+	24	4436	c.4041A>G	c.(4039-4041)ggA>ggG	p.G1347G		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1347					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGACAGTGGAGAGATGGCAG	0.433			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome			
CHL1	10752	broad.mit.edu	37	3	367748	367748	+	Splice_Site	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:367748G>A	uc003bot.3	+	4	839	c.197_splice	c.e4+1	p.T66_splice	CHL1_uc003bou.3_Splice_Site_p.T66_splice|CHL1_uc003bow.2_Splice_Site_p.T66_splice|CHL1_uc011asi.2_Splice_Site_p.T66_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	66	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAACCAACGTGAGTATTGT	0.393												
ATP2B2	491	broad.mit.edu	37	3	10491052	10491052	+	Missense_Mutation	SNP	C	C	T	rs149328739		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:10491052C>T	uc003bvt.3	-	1	615	c.176G>A	c.(175-177)cGc>cAc	p.R59H	ATP2B2_uc003bvv.3_Missense_Mutation_p.R59H|ATP2B2_uc003bvw.3_Missense_Mutation_p.R59H|ATP2B2_uc010hdp.2_Missense_Mutation_p.R59H	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	59					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.R59C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTTTTGAGGCGCCGGCAGAT	0.562												
ZNF385D	79750	broad.mit.edu	37	3	21706493	21706493	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:21706493G>A	uc003cce.3	-	1	458	c.50C>T	c.(49-51)cCg>cTg	p.P17L	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	17						nucleus	nucleic acid binding|zinc ion binding	p.L16I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GACAAGGGCCGGGAGAGCAGG	0.517												
TOMM70A	9868	broad.mit.edu	37	3	100105109	100105109	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:100105109C>T	uc003dtw.3	-	2	1027	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	193					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.R193C(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GGCTTTTGCACGTCTAAAGAG	0.323												
LRRC31	79782	broad.mit.edu	37	3	169572742	169572742	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:169572742G>T	uc003fgc.1	-	5	915	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	LRRC31_uc010hwp.1_Missense_Mutation_p.L228M	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	284										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AATTTCCTCAGCTCACCCAAA	0.458												
PLD1	5337	broad.mit.edu	37	3	171426553	171426553	+	Silent	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:171426553T>C	uc003fhs.3	-	10	1484	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	PLD1_uc003fht.3_Silent_p.T379T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	379					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCACCAGTCTGTGATAAAAA	0.348												
KCTD8	386617	broad.mit.edu	37	4	44176993	44176993	+	Silent	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:44176993G>T	uc003gwu.3	-	1	1520	c.1236C>A	c.(1234-1236)ctC>ctA	p.L412L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	412						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGGTCTGAAAGAGTTCACTGT	0.438										HNSCC(17;0.042)		
ADAMTS3	9508	broad.mit.edu	37	4	73175150	73175150	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:73175150C>T	uc003hgk.2	-	14	2180	c.2143G>A	c.(2143-2145)Gtg>Atg	p.V715M	ADAMTS3_uc003hgl.3_Missense_Mutation_p.V56M	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	715	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.V715V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCCCCTTCACGGTTCGGCAG	0.433												
UGT3A2	167127	broad.mit.edu	37	5	36048994	36048994	+	Silent	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:36048994T>C	uc003jjz.2	-	3	972	c.840A>G	c.(838-840)ccA>ccG	p.P280P	UGT3A2_uc011cos.2_Silent_p.P246P|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	280						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTACTTGTGGTACTGGTT	0.463												
NNT	23530	broad.mit.edu	37	5	43653189	43653189	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:43653189C>A	uc003joe.3	+	13	2188	c.1933C>A	c.(1933-1935)Cgt>Agt	p.R645S	NNT_uc003jof.3_Missense_Mutation_p.R645S	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	645					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGGAACAGCACGTCTTGGCAA	0.542												
GFRAL	389400	broad.mit.edu	37	6	55223736	55223736	+	Missense_Mutation	SNP	A	A	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr6:55223736A>T	uc003pcm.1	+	5	838	c.752A>T	c.(751-753)aAg>aTg	p.K251M		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	251						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGACTAGAAAGTGCCATGAA	0.393												
CCDC146	57639	broad.mit.edu	37	7	76883866	76883866	+	Missense_Mutation	SNP	A	A	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:76883866A>T	uc003uga.3	+	4	620	c.493A>T	c.(493-495)Ata>Tta	p.I165L		NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	165										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTTGAGAAGATAACAAAGCC	0.279												
SEMA3C	10512	broad.mit.edu	37	7	80387714	80387714	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:80387714G>C	uc011kgw.2	-	14	1709	c.1630C>G	c.(1630-1632)Ctg>Gtg	p.L544V	SEMA3C_uc003uhj.3_Missense_Mutation_p.L526V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	526					immune response|response to drug	membrane	receptor activity	p.P544T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCCGCGCCAGGCAGCAGTCA	0.522												
PCLO	27445	broad.mit.edu	37	7	82532013	82532013	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:82532013G>A	uc003uhx.2	-	8	13771	c.13482C>T	c.(13480-13482)caC>caT	p.H4494H	PCLO_uc003uhv.2_Silent_p.H4494H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4425					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						TTATCCTTGCGTGAGGAAAGA	0.303												
FIS1	51024	broad.mit.edu	37	7	100884131	100884131	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:100884131C>T	uc003uyj.4	-	2	321	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	CLDN15_uc003uyg.2_5'Flank|CLDN15_uc003uyh.2_5'Flank|FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Non-coding_Transcript	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN	Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.	79					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TAGTTCCCCACGGCCAGGTAG	0.602												
HIPK2	28996	broad.mit.edu	37	7	139281490	139281490	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:139281490T>C	uc003vvf.4	-	11	2961	c.2690A>G	c.(2689-2691)gAg>gGg	p.E897G	HIPK2_uc003vvd.4_Missense_Mutation_p.E870G	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	897	Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGTTCCTCCTCCTCGTCCGT	0.602												
TRPV6	55503	broad.mit.edu	37	7	142571454	142571454	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:142571454A>G	uc003wbx.2	-	12	1764	c.1535T>C	c.(1534-1536)tTc>tCc	p.F512S	TRPV6_uc003wbw.1_Missense_Mutation_p.F298S|TRPV6_uc010lou.1_Missense_Mutation_p.F383S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	512					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)					CTCTGTCTGGAAGATGATATA	0.597												
SLCO5A1	81796	broad.mit.edu	37	8	70594552	70594552	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:70594552T>C	uc003xyl.3	-	6	2356	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.N495S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.N550S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	550	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCCTGTCAGATTCCTATGGGG	0.403												
FBXO43	286151	broad.mit.edu	37	8	101153144	101153144	+	Silent	SNP	T	T	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:101153144T>G	uc003yjd.3	-	1	2074	c.1338A>C	c.(1336-1338)gtA>gtC	p.V446V	FBXO43_uc003yje.3_Silent_p.V412V|FBXO43_uc010mbp.2_Silent_p.V446V	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	446					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACAGCTCATGTACCAATTGCA	0.433												
FZD6	8323	broad.mit.edu	37	8	104337555	104337555	+	Silent	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:104337555A>G	uc003ylh.3	+	3	1511	c.1221A>G	c.(1219-1221)caA>caG	p.Q407Q	FZD6_uc011lhn.2_Silent_p.Q375Q|FZD6_uc003ylj.3_Silent_p.Q407Q|FZD6_uc011lho.2_Silent_p.Q102Q|FZD6_uc011lhp.2_Silent_p.Q352Q	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	407					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCCGGAACCAAGAAAAACTAA	0.408												
TTC35	9694	broad.mit.edu	37	8	109468130	109468130	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:109468130A>G	uc003ymw.1	+	4	369	c.334A>G	c.(334-336)Agg>Ggg	p.R112G		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	112						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			GCTATATGATAGGATTTTACA	0.234												
TAF2	6873	broad.mit.edu	37	8	120744252	120744252	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:120744252T>C	uc003you.3	-	25	3782	c.3512A>G	c.(3511-3513)cAt>cGt	p.H1171R		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	1171	His-rich.|Lys-rich.				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTACTGTCATGCTTATGCTT	0.458												
SLC35D2	11046	broad.mit.edu	37	9	99084300	99084300	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:99084300G>A	uc004awc.3	-	10	970	c.894C>T	c.(892-894)aaC>aaT	p.N298N	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.N210N	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	298						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACCCTACAAAGTTTAACAAAG	0.343												
RALGDS	5900	broad.mit.edu	37	9	135983521	135983521	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:135983521G>T	uc004cco.3	-	5	1071	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.L339M|RALGDS_uc004ccr.3_Missense_Mutation_p.L350M|RALGDS_uc011mcv.2_Missense_Mutation_p.L322M|RALGDS_uc004ccs.3_Missense_Mutation_p.L296M|RALGDS_uc011mcw.2_Missense_Mutation_p.L422M|RALGDS_uc004ccv.1_Missense_Mutation_p.L120M|RALGDS_uc004ccu.1_Missense_Mutation_p.L120M	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	351					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTGGCTCCAGCTCTAGAGTT	0.582			T	CIITA	"""PMBL, Hodgkin Lymphona, """							
ATRX	546	broad.mit.edu	37	X	76849273	76849273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:76849273delC	uc004ecp.4	-	25	6235	c.6003delG	c.(6001-6003)tggfs	p.W2001fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.W1963fs|ATRX_uc004eco.4_Frame_Shift_Del_p.W1786fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2001					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATCTTTGTACCAGTCTGGAG	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
AFF2	2334	broad.mit.edu	37	X	147733555	147733555	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:147733555G>T	uc004fcp.3	+	1	562	c.83G>T	c.(82-84)aGg>aTg	p.R28M	AFF2_uc004fco.3_Missense_Mutation_p.R28M|AFF2_uc004fcq.3_Missense_Mutation_p.R28M|AFF2_uc004fcr.3_Missense_Mutation_p.R28M|AFF2_uc011mxb.2_Missense_Mutation_p.R28M|AFF2_uc004fcs.3_Missense_Mutation_p.R28M	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	28					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAAAAAAAGGGAATGGGAG	0.363												
