Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BRE	9577	broad.mit.edu	37	2	28521236	28521236	+	Silent	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:28521236G>A	ENST00000344773.2	+	11	1104	c.966G>A	c.(964-966)caG>caA	p.Q322Q	BRE_ENST00000342045.2_Silent_p.Q322Q|BRE_ENST00000379624.1_Silent_p.Q322Q|BRE_ENST00000379632.2_Silent_p.Q322Q|BRE_ENST00000361704.2_Silent_p.Q322Q	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	322	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CTCGAGACCAGCCAACTCTCA	0.408000													5	285					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	137					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30610578	30610578	+	Missense_Mutation	SNP	G	G	A	rs61748626		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr20:30610578G>A	ENST00000300415.8	+	6	1062	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q	CCM2L_ENST00000262659.8_Missense_Mutation_p.R350Q					cerebral cavernous malformation 2-like																		ACACCTGAACGGCCATGGCTC	0.577000													16	26					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144820553	144820553	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr6:144820553C>T	ENST00000367545.3	+	33	4754	c.4754C>T	c.(4753-4755)tCc>tTc	p.S1585F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1585	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACAGAAATTTCCTGGGCTAAA	0.473000													23	50					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940000	76940000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chrX:76940000G>A	ENST00000373344.5	-	9	962	c.748C>T	c.(748-750)Cga>Tga	p.R250*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R212*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	250	ADD.				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)	AACTCCTTTCGACCAAGGTTG	0.418000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						99	93					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66933164	66933164	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:66933164T>C	ENST00000269080.2	-	4	531	c.394A>G	c.(394-396)Aca>Gca	p.T132A	ABCA8_ENST00000586539.1_Missense_Mutation_p.T132A|ABCA8_ENST00000430352.2_Missense_Mutation_p.T132A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	132						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TATGAGTATGTATTAGTAAAG	0.363000													18	67					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515455	51515455	+	Nonsense_Mutation	SNP	C	C	A	rs138769000		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr11:51515455C>A	ENST00000328188.1	+	1	174	c.174C>A	c.(172-174)taC>taA	p.Y58*		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCCCCATGTACCTTTCCCTGG	0.458000													62	160					3.33906e-19	3.51029e-19	1	1	0
CAMKV	79012	broad.mit.edu	37	3	49899247	49899247	+	Silent	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:49899247C>T	ENST00000477224.1	-	4	757	c.279G>A	c.(277-279)aaG>aaA	p.K93K	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000463537.1_Silent_p.K93K|CAMKV_ENST00000488336.1_Silent_p.K93K|CAMKV_ENST00000296471.7_Silent_p.K93K|CAMKV_ENST00000467248.1_Silent_p.K18K|CAMKV_ENST00000466940.1_Silent_p.K93K			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	93	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAAAGTACTCCTTGCGGGTCA	0.582000													24	65					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	67					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45216218	45216218	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:45216218A>G	ENST00000066544.3	-	13	1684	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H|CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCAACTCTATAATTCTCAATC	0.328000													4	95					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122763178	122763178	+	Splice_Site	SNP	A	A	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr7:122763178A>T	ENST00000194130.2	-	12	1390		c.e12+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACAGAGTATTACCTCACAACC	0.403000													43	98					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													4	15					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			24	50					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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	0.393000			Mis		gliobastoma								26	78					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298872	75298872	+	Silent	SNP	A	A	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr11:75298872A>T	ENST00000304771.3	-	4	2424	c.1674T>A	c.(1672-1674)tcT>tcA	p.S558S	MAP6_ENST00000526740.1_Silent_p.S229S|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	558	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GATCCTTTAGAGACTCTGGTA	0.502000													47	101					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	66					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								5	103					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89729445	89729445	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:89729445A>G	ENST00000343435.5	-	9	1872	c.1336T>C	c.(1336-1338)Tat>Cat	p.Y446H	GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.Y446H|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	446						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGCTCCCGATAGTACTTTGCC	0.428000													60	145					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35466203	35466203	+	Silent	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr6:35466203C>T	ENST00000229771.6	-	15	1609	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	TULP1_ENST00000322263.4_Silent_p.A457A	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	510					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGCGTCCTCCGCCACGCGGC	0.662000													7	32					0	0	1	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75538368	75538368	+	Silent	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr14:75538368C>T	ENST00000524913.1	+	2	1581	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Silent_p.S364S	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	0																	TGCAGGGATCCGCCAGAAATT	0.547000													16	54					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	66					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37439481	37439481	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:37439481G>A	ENST00000234170.5	-	11	2745	c.2600C>T	c.(2599-2601)gCt>gTt	p.A867V	AC007390.5_ENST00000397064.2_Intron|RP11-423P10.2_ENST00000606229.1_RNA	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	867					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATGTTACCCAGCAAAATCCAT	0.378000													4	142					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45216210	45216210	+	Silent	SNP	A	A	C	rs62075659		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318000													4	96					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815468	158815468	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:158815468C>T	ENST00000368141.4	+	5	923	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	221	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAGCAACAGCGCCATTTAAA	0.468000													22	59					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187807	42187807	+	Silent	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr19:42187807G>A	ENST00000006724.3	-	3	816	c.615C>T	c.(613-615)agC>agT	p.S205S	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.S205S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	205	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCTTTGTGGCGCTGAGTAGAA	0.537000													5	238					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197761856	197761856	+	Splice_Site	SNP	T	T	C			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:197761856T>C	ENST00000354764.3	-	7	1040	c.927_splice	c.e7+1	p.Q309_splice	PGAP1_ENST00000409188.1_Splice_Site_p.Q267_splice|PGAP1_ENST00000409475.1_Splice_Site_p.Q309_splice|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	309					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AATACATACTTGTTTAGTATC	0.254000													32	91					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28326921	28326921	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr15:28326921C>T	ENST00000354638.3	-	2	255	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	OCA2_ENST00000353809.5_Missense_Mutation_p.G34S|OCA2_ENST00000382996.2_Missense_Mutation_p.G34S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	34					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTGCGCTTGCCGGCCACAAGT	0.721000									Oculocutaneous Albinism				10	21					0	0	1	0	0
LMBR1L	55716	broad.mit.edu	37	12	49494380	49494380	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr12:49494380G>A	ENST00000267102.8	-	14	1474	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	LMBR1L_ENST00000547382.1_Missense_Mutation_p.R358W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R373W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	378					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCAGGCTCCGGAAGAGTGGA	0.562000													3	31					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5048779	5048779	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:5048779G>A	ENST00000574788.1	+	27	4302	c.2072G>A	c.(2071-2073)tGc>tAc	p.C691Y	USP6_ENST00000304328.5_Missense_Mutation_p.C374Y|USP6_ENST00000332776.4_Missense_Mutation_p.C691Y|USP6_ENST00000250066.6_Missense_Mutation_p.C691Y			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	691					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAAGTCAAATGCAAGACATGT	0.388000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								57	136					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													3	45					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844780	18844780	+	RNA	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr22:18844780G>A	ENST00000412938.1	+	0	3030																											AGCAGTGCACGTGGAGGAGAC	0.577000													3	14					0	0	1	0	0
USP20	0	broad.mit.edu	37	9	132620353	132620353	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr9:132620353G>A	ENST00000315480.4	+	5	318	c.160G>A	c.(160-162)Gga>Aga	p.G54R	USP20_ENST00000358355.1_Missense_Mutation_p.G54R|USP20_ENST00000372429.3_Missense_Mutation_p.G54R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	54					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGTTGGCTGCGGAGAATCCTT	0.562000													47	86					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1564066	1564067	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:1564066_1564067insG	ENST00000357210.4	+	16	2556_2557	c.2340_2341insG	c.(2338-2343)gcggggfs	p.AG780fs	MIB2_ENST00000378708.1_Frame_Shift_Ins_p.AG686fs|MIB2_ENST00000518681.1_Frame_Shift_Ins_p.AG772fs|MIB2_ENST00000355826.5_Frame_Shift_Ins_p.AG823fs|MIB2_ENST00000505820.2_Frame_Shift_Ins_p.AG837fs|MIB2_ENST00000378710.3_Frame_Shift_Ins_p.AG744fs|MIB2_ENST00000504599.1_Frame_Shift_Ins_p.AG736fs|MIB2_ENST00000520777.1_Frame_Shift_Ins_p.AG833fs|MIB2_ENST00000378712.1_Frame_Shift_Ins_p.AG657fs|MIB2_ENST00000360522.4_Frame_Shift_Ins_p.AG745fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	780					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGATGGGGCCGGGGGGGACCC	0.713													4	7	---	---	---	---					
OSBPL10	114884	broad.mit.edu	37	3	31725336	31725336	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:31725336delG	ENST00000396556.2	-	8	1638	c.1516delC	c.(1516-1518)gcfs	p.R506fs	OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.R442fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	506					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCAGGAGAGCGGGAAGCAGTC	0.542													36	89	---	---	---	---					
ST8SIA1	6489	broad.mit.edu	37	12	22440124	22440129	+	In_Frame_Del	DEL	AGTATA	AGTATA	-			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr12:22440124_22440129delAGTATA	ENST00000396037.4	-	2	816_821	c.335_340delTATACT	c.(334-342)tca>t	p.LYS112del	ST8SIA1_ENST00000539510.1_In_Frame_Del_p.YT6del	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	112					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ATGGTGAATGAGTATAAAAACTCCCC	0.413													18	43	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:7577105delG	ENST00000420246.2	-	8	965	c.833delC	c.(832-834)ctfs	p.P278fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P278fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTCTCTCCCAGGACAGGCACA	0.552		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)			11	31	---	---	---	---					
MYT1	4661	broad.mit.edu	37	20	62830225	62830225	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr20:62830225delA	ENST00000536311.1	+	3	375	c.11delA	c.(10-12)gafs	p.E4fs	MYT1_ENST00000328439.1_Frame_Shift_Del_p.E4fs|MYT1_ENST00000360149.4_Frame_Shift_Del_p.E4fs			Q01538	MYT1_HUMAN	myelin transcription factor 1	4					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATGAGCTTAGAAAATGAAGAC	0.552													27	73	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39932980	39932981	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chrX:39932980_39932981insG	ENST00000342274.4	-	4	1980_1981	c.1618_1619insC	c.(1618-1620)gagfs	p.E540fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.E540fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.E540fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.E540fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	540					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGATGAACTCCGCTGCTGTGGT	0.594			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						39	29	---	---	---	---