Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MTNR1A_chr4_186528655_186560567	186546886	G G	GTGGGACA others(185): Show GTGGGACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCAC ACCACACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCGTGG GACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCACACCA CACCCTGTTCCTGGGACACACCGTCCACACCACACCCTGTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02886.hp2 HG02976.hp1 others(5): Show HG00733.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0001 a0003c0004t0001 a0001c0003t0001 a0003c0004t0001	a0001c0003t0001g0011 a0001c0003t0001g0108 a0001c0003t0001g0112 others(2): Show a0001c0003t0001g0011 a0001c0003t0001g0108 a0001c0003t0001g0112 a0001c0003t0001g0114 a0003c0004t0001g0111	8	224	0.0357	192	c.184 others(209): Show c.184+8295_184+8296insGGAACAGGGTGTGGTGTGGACGGTGTGT CCCAGGAACAGGGTGTGGTGTGGACGGTGTGTCCCACGAACAGGGTGTGG TGTGGACGGTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCA CGAACAGGGTGTGGTGTGGACGGTGTGTCCCACGAACAGGGTGTGGTGTG GACGGTGTGTCCCA		MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1						chr4	TogoVar
MUC4_chr3_195741771_195816929	195779471	T T	TAGTGACA others(185): Show TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGA CATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03579.hp1 HG03579.hp1	a0093 a0093	a0093c0031 a0093c0031	a0093c0031t0005 a0093c0031t0005	a0093c0031t0005g0230 a0093c0031t0005g0230	1	135	0.0074	192	c.121 others(203): Show c.12108_12109insGACACTTCCTCAGCATCCACAGGTCACGCCAACC CTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCG CTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCT TCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTC CTGTCACT	p.Thr others(207): Show p.Thr4036_Ser4037insAspThrSerSerAlaSerThrGlyHisAla AsnProLeuHisValThrSerProSerSerAlaSerThrGlyHisAlaTh rProLeuProValThrAspThrSerSerAlaSerThrGlyHisAlaThrP roLeuProValThrSerLeuSerSerValSerThrGlyAspThrThrPro LeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12220/16756	12108/16239	4036/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779500	G G	GTGGACAC others(185): Show GTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGTGTGACCTGA GGATGCTGAGGAAGGGATGGTGACAGGAAGAGGCGTGGTGTCACCTGTGG ATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTGGCGTGACCGGTGGAT GCTGAGGAAGCATCGGTGACAGGAAGAGTGCTGGTGTCACCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0072 a0087 a0072 a0087	a0072c0122 a0087c0123 a0072c0122 a0087c0123	a0072c0122t0007 a0087c0123t0014 a0072c0122t0007 a0087c0123t0014	a0072c0122t0007g0186 a0087c0123t0014g0184 a0072c0122t0007g0186 a0087c0123t0014g0184	2	248	0.0081	192	c.120 others(203): Show c.12079_12080insGAGGTGACACCAGCACTCTTCCTGTCACCGATGC TTCCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTCTCACCAGCCTTT CCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCATCCCTTCC TCAGCATCCTCAGGTCACACCACCTCTCTTCCTGTCACCGACGCTTCCTC AGTGTCCA	p.Ser others(207): Show p.Ser4026_Thr4027insArgGlyAspThrSerThrLeuProValThr AspAlaSerSerAlaSerThrGlyHisAlaThrProLeuProLeuThrSe rLeuSerSerValSerThrGlyAspThrThrProLeuProValThrIleP roSerSerAlaSerSerGlyHisThrThrSerLeuProValThrAspAla SerSerValSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12191/16756	12079/16239	4027/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779678	A A	AGGTGGTG others(185): Show AGGTGGTGTGACGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGT GGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGG TGTCACCTGTGGATACTGACGAAGCGTCGGTGACAAGAAGAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02615.hp1 HG02723.hp1 HG02615.hp1 HG02723.hp1	a0070 a0076 a0070 a0076	a0070c0155 a0076c0154 a0070c0155 a0076c0154	a0070c0155t0004 a0076c0154t0003 a0070c0155t0004 a0076c0154t0003	a0070c0155t0004g0243 a0076c0154t0003g0206 a0070c0155t0004g0243 a0076c0154t0003g0206	2	128	0.0156	192	c.119 others(203): Show c.11901_11902insCCTCTTCTTGTCACCGACGCTTCGTCAGTATCCA CAGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCATCTACA GGTCACACCACCCCTCTACCTGTCACCGACACTCCCTCAGCATCCACAGG TGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACACGTC ACACCACC	p.Thr others(207): Show p.Thr3967_Ser3968insProLeuLeuValThrAspAlaSerSerVal SerThrGlyAspThrThrArgLeuProValThrSerProSerSerAlaSe rThrGlyHisThrThrProLeuProValThrAspThrProSerAlaSerT hrGlyAspThrThrProLeuProValThrAsnAlaSerSerLeuSerThr ArgHisThrThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12013/16756	11901/16239	3967/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779684	C C	CGTGACGT others(185): Show CGTGACGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTG TCACCTGTGGATGCTGAGGGAGTGTCGGTGACAGGTACAGGGGTGGTGTG ACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGGTGTCAC CTGTGGATACTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0144 a0003c0144	a0003c0144t0003 a0003c0144t0003	a0003c0144t0003g0210 a0003c0144t0003g0210	1	115	0.0087	192	c.118 others(203): Show c.11895_11896insACCACCCCTCTTCTTGTCACCGACGCTTCGTCAG TATCCACAGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCA TCTACAGGTCACACCACCCCTGTACCTGTCACCGACACTCCCTCAGCATC CACAGGTGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCA CACGTCAC	p.His others(207): Show p.His3965_Ala3966insThrThrProLeuLeuValThrAspAlaSer SerValSerThrGlyAspThrThrArgLeuProValThrSerProSerSe rAlaSerThrGlyHisThrThrProValProValThrAspThrProSerA laSerThrGlyAspThrThrProLeuProValThrAsnAlaSerSerLeu SerThrArgHis	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12007/16756	11895/16239	3965/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779684	C C	CGTGACGT others(185): Show CGTGACGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTG TCACCTGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGTGGTGTG ACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGGTGTCAC CTGTGGATACTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp2 HG00741.hp2 HG01167.hp2 others(13): Show HG00621.hp2 HG00741.hp2 HG01167.hp2 HG01261.hp1 HG01433.hp2 HG01884.hp2 HG02155.hp2 HG02895.hp1 HG03540.hp2 HG03834.hp2 NA18955.hp1 NA18974.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1	a0003 a0016 a0044 others(4): Show a0003 a0016 a0044 a0078 a0097 a0105 a0117	a0003c0004 a0003c0006 a0016c0152 others(6): Show a0003c0004 a0003c0006 a0016c0152 a0016c0153 a0044c0147 a0078c0146 a0097c0149 a0105c0157 a0117c0150	a0003c0004t0003 a0003c0006t0003 a0016c0152t0004 others(6): Show a0003c0004t0003 a0003c0006t0003 a0016c0152t0004 a0016c0153t0005 a0044c0147t0003 a0078c0146t0004 a0097c0149t0003 a0105c0157t0003 a0117c0150t0003	a0003c0004t0003g0203 a0003c0004t0003g0204 a0003c0004t0003g0207 others(13): Show a0003c0004t0003g0203 a0003c0004t0003g0204 a0003c0004t0003g0207 a0003c0004t0003g0214 a0003c0004t0003g0221 a0003c0006t0003g0104 a0003c0006t0003g0106 a0003c0006t0003g0211 a0003c0006t0003g0213 a0016c0152t0004g0241 a0016c0153t0005g0242 a0044c0147t0003g0208 a0078c0146t0004g0235 a0097c0149t0003g0209 a0105c0157t0003g0212 a0117c0150t0003g0215	16	130	0.1231	192	c.118 others(203): Show c.11895_11896insACCACCCCTCTTCTTGTCACCGACGCTTCGTCAG TATCCACAGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCA TCTACAGGTCACACCACCCCTCTACCTGTCACCGACACTCCCTCAGCATC CACAGGTGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCA CACGTCAC	p.His others(207): Show p.His3965_Ala3966insThrThrProLeuLeuValThrAspAlaSer SerValSerThrGlyAspThrThrArgLeuProValThrSerProSerSe rAlaSerThrGlyHisThrThrProLeuProValThrAspThrProSerA laSerThrGlyAspThrThrProLeuProValThrAsnAlaSerSerLeu SerThrArgHis	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12007/16756	11895/16239	3965/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195780478	A A	ATGGTGAC others(185): Show ATGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTC CGTGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGG TGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTG ACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0144 a0003c0144	a0003c0144t0003 a0003c0144t0003	a0003c0144t0003g0210 a0003c0144t0003g0210	1	99	0.0101	192	c.109 others(203): Show c.10910_11101dupGCCTTTCCTCAGTATCCACAGGTGACACCACCCC TCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCCCTC TTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCGTCTT CCTGTCACGGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCC TGTCACCA	p.Ser others(15): Show p.Ser3637_Thr3700dup	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11213/16756	11101/16239	3701/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781325	T T	TGGACACT others(185): Show TGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTG GGTACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGA TGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACA CTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03579.hp1 HG03579.hp1	a0093 a0093	a0093c0031 a0093c0031	a0093c0031t0005 a0093c0031t0005	a0093c0031t0005g0230 a0093c0031t0005g0230	1	248	0.0040	192	c.102 others(203): Show c.10254_10255insTCAGGTCACGCCACCTCTCTTCCTGTCACCGACG CTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCATCCCT TCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTC CTCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCT CAGTGTCC	p.Ser others(207): Show p.Ser3418_Thr3419insSerGlyHisAlaThrSerLeuProValThr AspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValThrIl eProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAspA laSerSerValProThrGlyHisAlaThrSerLeuProValThrAspAla SerSerValSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10366/16756	10254/16239	3418/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781559	C C	CACCTGTG others(185): Show CACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA CCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTG TGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGATGGCGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp1 HG02451.hp1	a0064 a0064	a0064c0119 a0064c0119	a0064c0119t0008 a0064c0119t0008	a0064c0119t0008g0196 a0064c0119t0008g0196	1	206	0.0049	192	c.100 others(203): Show c.10020_10021insCACGCCATCCCTCTTCTTGTCACCGACACTTCCT CAGCATCCACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCA GTATCCACAGGTGACACCACCCCTCTTCCTGTCACTAGCCCTTCCTCAGC ATCCACAGGTCACGCCACCCCTCTTCATGTCACCGACGCTTCCTCAGTAT CCACAGGT	p.Gly others(207): Show p.Gly3340_Asp3341insHisAlaIleProLeuLeuValThrAspThr SerSerAlaSerThrGlyGlnAlaThrProLeuProValThrSerLeuSe rSerValSerThrGlyAspThrThrProLeuProValThrSerProSerS erAlaSerThrGlyHisAlaThrProLeuHisValThrAspAlaSerSer ValSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10132/16756	10020/16239	3340/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783120	G G	GGTGACAG others(185): Show GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTGAGGAAGGGCTGG TGACATGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGAC AGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01192.hp2 HG01346.hp2 HG02145.hp2 HG01192.hp2 HG01346.hp2 HG02145.hp2	a0038 a0043 a0058 a0038 a0043 a0058	a0038c0161 a0043c0103 a0058c0162 a0038c0161 a0043c0103 a0058c0162	a0038c0161t0015 a0043c0103t0004 a0058c0162t0009 a0038c0161t0015 a0043c0103t0004 a0058c0162t0009	a0038c0161t0015g0234 a0043c0103t0004g0238 a0058c0162t0009g0237 a0038c0161t0015g0234 a0043c0103t0004g0238 a0058c0162t0009g0237	3	248	0.0121	192	c.845 others(201): Show c.8459_8460insTGACACTTCCTCAGCATCCACAGGTGACACCACCCC TCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCCCTC TTCCTGTCACCAACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTT CATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACACCACCCCTCTTCC TGTCAC	p.Thr others(207): Show p.Thr2820_Asp2821insAspThrSerSerAlaSerThrGlyAspThr ThrProLeuProValThrAspThrSerSerAlaSerThrGlyHisAlaTh rProLeuProValThrAsnThrSerSerValSerThrGlyHisAlaThrP roLeuHisValThrSerProSerSerAlaSerThrGlyHisThrThrPro LeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8571/16756	8459/16239	2820/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783511	G G	GGAAGAGG others(185): Show GGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGG AAGAGGGGTGGTGTCCCCTGTGGATAATGAGGAAGCATCGGTGACATGAA GAGCGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGA GAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01433.hp2	a0044 a0044	a0044c0147 a0044c0147	a0044c0147t0003 a0044c0147t0003	a0044c0147t0003g0208 a0044c0147t0003g0208	1	233	0.0043	192	c.806 others(201): Show c.8068_8069insTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACG CCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCC ACCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGGGACACCAC CCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCC CTCTTC	p.Leu others(207): Show p.Leu2689_Pro2690insLeuValThrAspAlaSerSerValSerThr GlyHisAlaThrSerLeuLeuValThrAspAlaSerSerValSerThrGl yHisAlaThrAlaLeuHisValThrAspAlaSerSerLeuSerThrGlyA spThrThrProLeuProValThrSerProSerSerAlaSerThrGlyAsp ThrThrProLeu	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8180/16756	8068/16239	2690/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783586	A A	ACTGAGGA others(185): Show ACTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGC TGAGGAAGGGCTAGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTG AGGAAAGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAG GAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03098.hp1 HG03098.hp1	a0083 a0083	a0083c0116 a0083c0116	a0083c0116t0008 a0083c0116t0008	a0083c0116t0008g0068 a0083c0116t0008g0068	1	214	0.0047	192	c.799 others(201): Show c.7993_7994insCATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGC CTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACTAGCCC TTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCGACGCTT CCTCAG	p.Ser others(207): Show p.Ser2664_Val2665insAlaSerThrGlyAspThrThrProLeuPro ValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProVa lThrSerLeuSerSerValSerThrGlyAspThrThrProLeuProValT hrSerProSerSerAlaSerThrGlyHisAlaThrProLeuHisValThr AspAlaSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8105/16756	7993/16239	2665/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783744	G G	GGTGACAG others(185): Show GGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCCGAGGAAATGTCGG TGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTG ACAGAAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGAC AGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01192.hp2 HG01346.hp2 HG01192.hp2 HG01346.hp2	a0038 a0043 a0038 a0043	a0038c0161 a0043c0103 a0038c0161 a0043c0103	a0038c0161t0015 a0043c0103t0004 a0038c0161t0015 a0043c0103t0004	a0038c0161t0015g0234 a0043c0103t0004g0238 a0038c0161t0015g0234 a0043c0103t0004g0238	2	247	0.0081	192	c.783 others(201): Show c.7835_7836insTGACACTTCCTCAGCATCCACAGGTGACACCACCCC TCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTC TTTCTGTCACCGGCCTTTCCTCAGCTTCCACAGGTGACACCACCCGTCTT CCTGTCACCGACATTTCCTCGGCATCCACAGGTCAGGCCACCCCTCTTCC TGTCAC	p.Thr others(207): Show p.Thr2612_Ser2613insAspThrSerSerAlaSerThrGlyAspThr ThrProLeuProValThrAspThrSerSerValSerThrGlyHisAlaTh rProLeuSerValThrGlyLeuSerSerAlaSerThrGlyAspThrThrA rgLeuProValThrAspIleSerSerAlaSerThrGlyGlnAlaThrPro LeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7947/16756	7835/16239	2612/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784341	G G	GTGACCTG others(185): Show GTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCAT GACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGA CCTGTGGATACTGAGGAAGTGTCAGTGACAGGAAGAGAGGTGGCGTGACC TCTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03540.hp1 HG03540.hp1	a0092 a0092	a0092c0102 a0092c0102	a0092c0102t0002 a0092c0102t0002	a0092c0102t0002g0182 a0092c0102t0002g0182	1	110	0.0091	192	c.723 others(201): Show c.7238_7239insGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGC ATCCAGAGGTCACGCCACCTCTCTTCCTGTCACTGACACTTCCTCAGTAT CCACAGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCC ACAGGTCATGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCAC AGGTCA	p.Gly others(207): Show p.Gly2412_His2413insGlnAlaThrProLeuProValThrSerThr SerSerAlaSerArgGlyHisAlaThrSerLeuProValThrAspThrSe rSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSerS erAlaSerThrGlyHisAlaThrProLeuProValThrAspThrSerSer ValSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7350/16756	7238/16239	2413/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785303	G G	GACCTGTG others(185): Show GACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGAGGTGGCGTGA CGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGTGGTGTGACCTG TAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03041.hp2 NA19043.hp1 HG03041.hp2 NA19043.hp1	a0021 a0021	a0021c0024 a0021c0024	a0021c0024t0004 a0021c0024t0004	a0021c0024t0004g0232 a0021c0024t0004g0233 a0021c0024t0004g0232 a0021c0024t0004g0233	2	241	0.0083	192	c.627 others(201): Show c.6276_6277insGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCA GCATCTACAGGTCACACCACCCCTCTACCTGTCACCGACACTCCCTCAGC ATCCACAGGTGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTAT CCACACGTCACGCCACCTCTCTTCATGTCACCAGCCCTTCCTCAGCATCC ACAGGT	p.Gly others(207): Show p.Gly2092_His2093insAspThrThrArgLeuProValThrSerPro SerSerAlaSerThrGlyHisThrThrProLeuProValThrAspThrPr oSerAlaSerThrGlyAspThrThrProLeuProValThrAsnAlaSerS erLeuSerThrArgHisAlaThrSerLeuHisValThrSerProSerSer AlaSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6388/16756	6276/16239	2092/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785591	G G	GACCTGTG others(185): Show GACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGAGGTGGCGTGA CGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGGAGTTTCGGTGACAGGTAGAGGGGTGGTGTGACCTG TAGATGCTGAGTAAGGGCTGGTGACAGGAAGACGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp2 HG02717.hp2	a0075 a0075	a0075c0113 a0075c0113	a0075c0113t0001 a0075c0113t0001	a0075c0113t0001g0008 a0075c0113t0001g0008	1	246	0.0041	192	c.598 others(201): Show c.5988_5989insGACACCACCCGTCTTCCTGTCACCAGCCCTTACTCA GCATCTACAGGTCACACCACCCCTCTACCTGTCACCGAAACTCCCTCAGC ATCCACAGGTGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTAT CCACACGTCACGCCACCTCTCTTCATGTCACCAGCCCTTCCTCAGCATCC ACAGGT	p.Gly others(207): Show p.Gly1996_His1997insAspThrThrArgLeuProValThrSerPro TyrSerAlaSerThrGlyHisThrThrProLeuProValThrGluThrPr oSerAlaSerThrGlyAspThrThrProLeuProValThrAsnAlaSerS erLeuSerThrArgHisAlaThrSerLeuHisValThrSerProSerSer AlaSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6100/16756	5988/16239	1996/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786062	A A	AGGTGGCG others(185): Show AGGTGGCGTGACGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGT GGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGG TGTCACCTGTGGATACTGACGAAGCGTCGGTGACAAGAAGAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02615.hp2 HG03098.hp1 HG02615.hp2 HG03098.hp1	a0071 a0083 a0071 a0083	a0071c0117 a0083c0116 a0071c0117 a0083c0116	a0071c0117t0004 a0083c0116t0008 a0071c0117t0004 a0083c0116t0008	a0071c0117t0004g0231 a0083c0116t0008g0068 a0071c0117t0004g0231 a0083c0116t0008g0068	2	232	0.0086	192	c.551 others(201): Show c.5517_5518insCCTCTTCTTGTCACCGACGCTTCGTCAGTATCCACA GGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCATCTACAGG TCACACCACCCCTCTACCTGTCACCGACACTCCCTCAGCATCCACAGGTG ACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACACGTCAC GCCACC	p.Thr others(207): Show p.Thr1839_Ser1840insProLeuLeuValThrAspAlaSerSerVal SerThrGlyAspThrThrArgLeuProValThrSerProSerSerAlaSe rThrGlyHisThrThrProLeuProValThrAspThrProSerAlaSerT hrGlyAspThrThrProLeuProValThrAsnAlaSerSerLeuSerThr ArgHisAlaThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	5629/16756	5517/16239	1839/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786191	C C	CGGTGACA others(185): Show CGGTGACATGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGT GACAAGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGA CAGGAAGAGAGGTGGTGTGACCTGAAGATGCTGAGGAAGGGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp2 HG03041.hp1 HG03225.hp1 HG02717.hp2 HG03041.hp1 HG03225.hp1	a0075 a0082 a0089 a0075 a0082 a0089	a0075c0113 a0082c0112 a0089c0110 a0075c0113 a0082c0112 a0089c0110	a0075c0113t0001 a0082c0112t0001 a0089c0110t0001 a0075c0113t0001 a0082c0112t0001 a0089c0110t0001	a0075c0113t0001g0008 a0082c0112t0001g0019 a0089c0110t0001g0018 a0075c0113t0001g0008 a0082c0112t0001g0019 a0089c0110t0001g0018	3	242	0.0124	192	c.538 others(201): Show c.5388_5389insATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCT CTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCT TCTTGTCACCGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTC CTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCAT GTCACC	p.Thr others(207): Show p.Thr1796_Asp1797insIleProSerSerAlaSerSerGlyHisThr ThrSerLeuProValThrAspAlaSerSerValSerThrGlyHisAlaTh rSerLeuLeuValThrAspAlaSerSerValSerThrGlyAspThrThrP roLeuProValThrAspThrSerSerAlaSerThrGlyAspThrThrPro LeuHisValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	5500/16756	5388/16239	1796/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786274	A A	ACTGAGGA others(185): Show ACTGAGGAAGTGTCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGC TGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAG GAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG02895.hp2 HG03688.hp2 others(2): Show HG00099.hp1 HG02895.hp2 HG03688.hp2 HG03942.hp2 HG04199.hp2	a0022 a0026 a0079 others(1): Show a0022 a0026 a0079 a0099	a0022c0020 a0026c0048 a0079c0133 others(1): Show a0022c0020 a0026c0048 a0079c0133 a0099c0132	a0022c0020t0001 a0026c0048t0001 a0079c0133t0001 others(1): Show a0022c0020t0001 a0026c0048t0001 a0079c0133t0001 a0099c0132t0001	a0022c0020t0001g0028 a0022c0020t0001g0093 a0026c0048t0001g0096 others(2): Show a0022c0020t0001g0028 a0022c0020t0001g0093 a0026c0048t0001g0096 a0079c0133t0001g0016 a0099c0132t0001g0032	5	242	0.0207	192	c.530 others(201): Show c.5305_5306insCATACACAGGTGACACCACCTCTCTTCCTGTCACCG ACACTTCCTCATCATCCACAGGTGACACCACCCCTCTTCTTGTCACCGAG ACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCC TTCCTCAGCATCCACAGGTGACACCACCCCTGTGCCTGTCACCGACACTT CCTCAG	p.Ser others(207): Show p.Ser1768_Val1769insAlaTyrThrGlyAspThrThrSerLeuPro ValThrAspThrSerSerSerSerThrGlyAspThrThrProLeuLeuVa lThrGluThrSerSerAlaSerThrGlyHisAlaThrProLeuHisValT hrSerProSerSerAlaSerThrGlyAspThrThrProValProValThr AspThrSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	5417/16756	5305/16239	1769/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786871	G G	GGAAGAGG others(185): Show GGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATG AAGAGGGGTGGCGTGACCTGTGGATAATGAGGAAGCGTCGGTGACAGGAA GAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGA GGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCAGTGACAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0060 a0060	a0060c0160 a0060c0160	a0060c0160t0009 a0060c0160t0009	a0060c0160t0009g0222 a0060c0160t0009g0222	1	225	0.0044	192	c.470 others(201): Show c.4708_4709insATGTCACTGATGCTTCCTCAGCATCCACAGGTCAGG CCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACC ACGCCTCTTCCTGTCACCGACGCTTCCTCATTATCCACAGGTCACGCCAC CCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCACCC CTCTTC	p.Leu others(207): Show p.Leu1569_Pro1570insHisValThrAspAlaSerSerAlaSerThr GlyGlnAlaThrProLeuProValThrSerLeuSerSerValSerThrGl yAspThrThrProLeuProValThrAspAlaSerSerLeuSerThrGlyH isAlaThrProLeuHisValThrSerProSerSerAlaSerThrGlyHis AlaThrProLeu	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4820/16756	4708/16239	1570/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787262	A A	AGGTGGTG others(185): Show AGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGAT GGCCTGACCTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGG TGTCATCTGTGGAAGCTGAAGAAAGGCCGGTGACAGGAAGTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02486.hp1 HG02615.hp2 HG03041.hp2 others(2): Show HG02486.hp1 HG02615.hp2 HG03041.hp2 HG03098.hp1 NA19043.hp1	a0021 a0066 a0071 others(1): Show a0021 a0066 a0071 a0083	a0021c0024 a0066c0118 a0071c0117 others(1): Show a0021c0024 a0066c0118 a0071c0117 a0083c0116	a0021c0024t0004 a0066c0118t0004 a0071c0117t0004 others(1): Show a0021c0024t0004 a0066c0118t0004 a0071c0117t0004 a0083c0116t0008	a0021c0024t0004g0232 a0021c0024t0004g0233 a0066c0118t0004g0229 others(2): Show a0021c0024t0004g0232 a0021c0024t0004g0233 a0066c0118t0004g0229 a0071c0117t0004g0231 a0083c0116t0008g0068	5	229	0.0218	192	c.431 others(201): Show c.4317_4318insCCACTTCCTGTCACCGGCCTTTCTTCAGCTTCCACA GATGACACCACCCGTCTTCCTGTCACCGACGTTTCCTCGGCATCCACAGG TCAGGCCATCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTG ACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTGAC ACCACC	p.Thr others(207): Show p.Thr1439_Ser1440insProLeuProValThrGlyLeuSerSerAla SerThrAspAspThrThrArgLeuProValThrAspValSerSerAlaSe rThrGlyGlnAlaIleProLeuProValThrSerProSerSerAlaSerT hrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThr GlyAspThrThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4429/16756	4317/16239	1439/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787262	A A	AGGTGGTG others(185): Show AGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGAT GGCCTGACCTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGG TGTCATCTGTGGAAGCTGAGGAAAGGCCGGTGACAGGAAGTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02976.hp2 HG02258.hp2 HG02976.hp2	a0060 a0081 a0060 a0081	a0060c0160 a0081c0158 a0060c0160 a0081c0158	a0060c0160t0009 a0081c0158t0009 a0060c0160t0009 a0081c0158t0009	a0060c0160t0009g0222 a0081c0158t0009g0244 a0060c0160t0009g0222 a0081c0158t0009g0244	2	226	0.0088	192	c.431 others(201): Show c.4317_4318insCCACTTCCTGTCACCGGCCTTTCCTCAGCTTCCACA GATGACACCACCCGTCTTCCTGTCACCGACGTTTCCTCGGCATCCACAGG TCAGGCCATCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTG ACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTGAC ACCACC	p.Thr others(207): Show p.Thr1439_Ser1440insProLeuProValThrGlyLeuSerSerAla SerThrAspAspThrThrArgLeuProValThrAspValSerSerAlaSe rThrGlyGlnAlaIleProLeuProValThrSerProSerSerAlaSerT hrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThr GlyAspThrThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4429/16756	4317/16239	1439/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787906	A A	ACTGAGGA others(185): Show ACTGAGGAAGTGTCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGC TGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAG GAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp2 HG01081.hp2	a0036 a0036	a0036c0044 a0036c0044	a0036c0044t0001 a0036c0044t0001	a0036c0044t0001g0187 a0036c0044t0001g0187	1	221	0.0045	192	c.367 others(201): Show c.3673_3674insCATACACAGGTGACACCACCTCTCTTCCTGTCACCG ACACTTCCTCATCATCCACAGGTGACACCACCCCTCTTCTTGTCACCGAG ACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCC TTCCTCAGCATCCACAGGTGACACCACCCCTGTGCCTGTCACCGACACTT CCTCAG	p.Ser others(207): Show p.Ser1224_Val1225insAlaTyrThrGlyAspThrThrSerLeuPro ValThrAspThrSerSerSerSerThrGlyAspThrThrProLeuLeuVa lThrGluThrSerSerAlaSerThrGlyHisAlaThrProLeuHisValT hrSerProSerSerAlaSerThrGlyAspThrThrProValProValThr AspThrSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3785/16756	3673/16239	1225/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788244	T T	TGAGGAAA others(185): Show TGAGGAAAGGCTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATTCTG AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAG GAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGA AGCATCGGTGACATGAAGAGGGGTGGTGTGACCTGTGGATGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01975.hp1 HG01975.hp1	a0050 a0050	a0050c0143 a0050c0143	a0050c0143t0004 a0050c0143t0004	a0050c0143t0004g0224 a0050c0143t0004g0224	1	247	0.0040	192	c.333 others(201): Show c.3335_3336insGGCATCCACAGGTCACACCACCCCTCTTCATGTCAC CGATGCTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCA GCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACCGAC ACTTCCTCAGAATCCACAGGTCACGTCACCCCTCTTCCTGTCACCAGCCT TTCCTC	p.Ser others(207): Show p.Ser1112_Val1113insAlaSerThrGlyHisThrThrProLeuHis ValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuProVa lThrSerProSerSerValSerThrGlyHisThrThrProLeuProValT hrAspThrSerSerGluSerThrGlyHisValThrProLeuProValThr SerLeuSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3447/16756	3335/16239	1112/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788371	A A	ACGTGACC others(185): Show ACGTGACCTGTGGATTCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGT GTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGT GACCTGTGGATACTGAGGAAGCATCGGTGACATGAAGAGGGGTGGTGTGA CCTGTGGATGCCGAGGAAGCGTAGGTGACAGGAAGAGGGGTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01975.hp1 HG02717.hp1 HG03225.hp2 HG01975.hp1 HG02717.hp1 HG03225.hp2	a0050 a0074 a0090 a0050 a0074 a0090	a0050c0143 a0074c0137 a0090c0097 a0050c0143 a0074c0137 a0090c0097	a0050c0143t0004 a0074c0137t0005 a0090c0097t0003 a0050c0143t0004 a0074c0137t0005 a0090c0097t0003	a0050c0143t0004g0224 a0074c0137t0005g0227 a0090c0097t0003g0067 a0050c0143t0004g0224 a0074c0137t0005g0227 a0090c0097t0003g0067	3	238	0.0126	192	c.320 others(201): Show c.3208_3209insCCACCCCTCTTCCTGTCACCTACGCTTCCTCGGCAT CCACAGGTCACACCACCCCTCTTCATGTCACCGATGCTTCCTCAGTATCC ACAGGTCACGCCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGTATCCAC AGGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGAATCCACAG GTCACG	p.His others(207): Show p.His1069_Val1070insAlaThrProLeuProValThrTyrAlaSer SerAlaSerThrGlyHisThrThrProLeuHisValThrAspAlaSerSe rValSerThrGlyHisAlaThrProLeuProValThrSerProSerSerV alSerThrGlyHisThrThrProLeuProValThrAspThrSerSerGlu SerThrGlyHis	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3320/16756	3208/16239	1070/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788482	T T	TCTGAGGA others(185): Show TCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATAC TGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTG AGGAAGCATCGGTGACATGAAGAGGGGTGGTGTGACCTGTGGATGCCGAG GAAGCGTAGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03130.hp2 HG03130.hp2	a0086 a0086	a0086c0156 a0086c0156	a0086c0156t0012 a0086c0156t0012	a0086c0156t0012g0239 a0086c0156t0012g0239	1	244	0.0041	192	c.309 others(201): Show c.3097_3098insCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCT ACGCTTCCTCGGCATCCACAGGTCACACCACCCCTCTTCATGTCACCGAT GCTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCCC TTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACACTT CCTCAG	p.Ser others(207): Show p.Ser1032_Glu1033insAlaSerThrGlyHisAlaThrProLeuPro ValThrTyrAlaSerSerAlaSerThrGlyHisThrThrProLeuHisVa lThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuProValT hrSerProSerSerValSerThrGlyHisAlaThrProLeuProValThr AspThrSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3209/16756	3097/16239	1033/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788482	T T	TCTGAGGA others(185): Show TCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATAC TGAGGAAGGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTG AGGAAGCATCGGTGACATGAAGAGGGGTGGTGTGACCTGTGGATGCCGAG GAAGCGTAGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG02145.hp2	a0058 a0058	a0058c0162 a0058c0162	a0058c0162t0009 a0058c0162t0009	a0058c0162t0009g0237 a0058c0162t0009g0237	1	244	0.0041	192	c.309 others(201): Show c.3097_3098insCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCT ACGCTTCCTCGGCATCCACAGGTCACACCACCCCTCTTCATGTCACCGAT GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCC TTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACCGACACTT CCTCAG	p.Ser others(207): Show p.Ser1032_Glu1033insAlaSerThrGlyHisAlaThrProLeuPro ValThrTyrAlaSerSerAlaSerThrGlyHisThrThrProLeuHisVa lThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValT hrSerProSerSerValSerThrGlyHisThrThrProLeuProValThr AspThrSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3209/16756	3097/16239	1033/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788578	A A	ACTGAGGA others(185): Show ACTGAGGAAGCATCGGTGACATGAAGAGGGGTGGTGTGACCTGTGGATGC CGAGGAAGCGTAGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGTGTCAGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAG GAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0060 a0060	a0060c0160 a0060c0160	a0060c0160t0009 a0060c0160t0009	a0060c0160t0009g0222 a0060c0160t0009g0222	1	242	0.0041	192	c.300 others(201): Show c.3001_3002insCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCA GCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACTGAC ACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCTACGC TTCCTCGGCATCCACAGGTCACACCACCCCTCTTCATGTCACCGATGCTT CCTCAG	p.Ser others(207): Show p.Ser1000_Val1001insAlaSerThrGlyHisAlaThrProLeuPro ValThrSerProSerSerValSerThrGlyHisThrThrProLeuProVa lThrAspThrSerSerAlaSerThrGlyHisAlaThrProLeuProValT hrTyrAlaSerSerAlaSerThrGlyHisThrThrProLeuHisValThr AspAlaSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3113/16756	3001/16239	1001/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788578	A A	ACTGAGGA others(185): Show ACTGAGGAAGCATCGGTGACATGAAGAGGGGTGGTGTGACCTGTGGATGC CGAGGAAGCGTAGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAG GAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01192.hp2 HG01192.hp2	a0038 a0038	a0038c0161 a0038c0161	a0038c0161t0015 a0038c0161t0015	a0038c0161t0015g0234 a0038c0161t0015g0234	1	242	0.0041	192	c.300 others(201): Show c.3001_3002insCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCA GCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACCGAC ACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCTACGC TTCCTCGGCATCCACAGGTCACACCACCCCTCTTCATGTCACCGATGCTT CCTCAG	p.Ser others(207): Show p.Ser1000_Val1001insAlaSerThrGlyHisAlaThrProLeuPro ValThrSerProSerSerValSerThrGlyHisThrThrProLeuProVa lThrAspThrSerSerAlaSerThrGlyHisAlaThrProLeuProValT hrTyrAlaSerSerAlaSerThrGlyHisThrThrProLeuHisValThr AspAlaSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3113/16756	3001/16239	1001/5412			chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1170629	C C	CCACTCAC others(185): Show CCACTCACCCGTTCACCCATTCACCCACTCACTCACCCACTCACCAACTC ACCCATTCACCCACTCACCCACTCACTCACCCACTCACCGACTCAACCAT TCACTCACCCATTCACCCATTCACCCACTCACTCACCCACTCACCAACTC ACCCATTCACCCACTCACTCACCCACTCACCGACTCAACCATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0042 a0042	a0042c0083 a0042c0083	a0042c0083t0003 a0042c0083t0003	a0042c0083t0003g0043 a0042c0083t0003g0043	1	280	0.0036	192	c.187 others(211): Show c.1870+1612_1870+1613insGTTCACCCATTCACCCACTCACTCAC CCACTCACCAACTCACCCATTCACCCACTCACCCACTCACTCACCCACTC ACCGACTCAACCATTCACTCACCCATTCACCCATTCACCCACTCACTCAC CCACTCACCAACTCACCCATTCACCCACTCACTCACCCACTCACCGACTC AACCATTCACTCACCC		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	15/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1184994	A A	AACAACCT others(185): Show AACAACCTCTGCTCCTACAACCAGCACAACTTCTGTCCCTACAACCAGCA CAATCTCTGGTCCTAAAACTACTCCGAGCCCTGTTCCTACCACCAGCACA ACCTCTGCTGCTACAACAAGCACAATCTCTGCTCCTACAACGAGCACAAC TTCTGTCCCTGGAACTACTCCCAGCCCTGTTCTCACCACCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(131): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0005 others(29): Show a0002 a0003 a0005 a0009 a0010 a0011 a0013 a0016 a0018 a0019 a0020 a0026 a0027 a0030 a0038 a0039 a0040 a0042 a0043 a0044 a0045 a0047 a0049 a0052 a0053 a0056 a0059 a0060 a0063 a0065 a0066 a0069	a0002c0002 a0002c0005 a0002c0032 others(58): Show a0002c0002 a0002c0005 a0002c0032 a0002c0036 a0002c0070 a0002c0076 a0002c0077 a0002c0090 a0002c0094 a0002c0096 a0002c0098 a0002c0108 a0003c0006 a0003c0007 a0003c0014 a0003c0015 a0003c0021 a0003c0038 a0003c0081 a0003c0088 a0003c0100 a0003c0101 a0003c0109 a0003c0110 a0003c0111 a0003c0114 a0005c0008 a0005c0022 a0009c0012 a0010c0018 a0011c0035 a0011c0095 a0013c0031 a0013c0078 a0016c0034 a0018c0037 a0019c0116 a0019c0117 a0020c0040 a0020c0041 a0026c0104 a0027c0119 a0030c0105 a0038c0086 a0039c0085 a0040c0091 a0042c0083 a0043c0113 a0044c0103 a0045c0097 a0047c0042 a0049c0106 a0052c0115 a0053c0112 a0056c0102 a0059c0084 a0060c0075 a0063c0107 a0065c0051 a0066c0099 a0069c0118	a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 others(59): Show a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 a0002c0032t0001 a0002c0036t0001 a0002c0070t0001 a0002c0076t0001 a0002c0077t0001 a0002c0090t0001 a0002c0094t0001 a0002c0096t0001 a0002c0098t0001 a0002c0108t0001 a0003c0006t0001 a0003c0007t0001 a0003c0014t0001 a0003c0015t0001 a0003c0021t0001 a0003c0038t0001 a0003c0081t0001 a0003c0088t0001 a0003c0100t0001 a0003c0101t0001 a0003c0109t0001 a0003c0110t0001 a0003c0111t0001 a0003c0114t0001 a0005c0008t0001 a0005c0022t0001 a0009c0012t0001 a0010c0018t0001 a0011c0035t0001 a0011c0095t0001 a0013c0031t0001 a0013c0078t0001 a0016c0034t0001 a0018c0037t0001 a0019c0116t0001 a0019c0117t0001 a0020c0040t0003 a0020c0041t0002 a0026c0104t0001 a0027c0119t0001 a0030c0105t0001 a0038c0086t0001 a0039c0085t0001 a0040c0091t0001 a0042c0083t0003 a0043c0113t0001 a0044c0103t0001 a0045c0097t0001 a0047c0042t0001 a0049c0106t0001 a0052c0115t0001 a0053c0112t0001 a0056c0102t0001 a0059c0084t0001 a0060c0075t0001 a0063c0107t0001 a0065c0051t0001 a0066c0099t0003 a0069c0118t0001	a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0085 others(103): Show a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0085 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0200 a0002c0002t0004g0023 a0002c0005t0001g0001 a0002c0005t0001g0022 a0002c0005t0001g0082 a0002c0005t0001g0083 a0002c0005t0001g0110 a0002c0032t0001g0109 a0002c0032t0001g0115 a0002c0036t0001g0024 a0002c0070t0001g0167 a0002c0076t0001g0041 a0002c0077t0001g0046 a0002c0090t0001g0097 a0002c0094t0001g0001 a0002c0096t0001g0001 a0002c0098t0001g0084 a0002c0108t0001g0001 a0003c0006t0001g0004 a0003c0006t0001g0051 a0003c0006t0001g0081 a0003c0007t0001g0021 a0003c0007t0001g0059 a0003c0007t0001g0061 a0003c0007t0001g0064 a0003c0007t0001g0068 a0003c0007t0001g0195 a0003c0014t0001g0003 a0003c0014t0001g0073 a0003c0014t0001g0074 a0003c0014t0001g0078 a0003c0015t0001g0116 a0003c0015t0001g0119 a0003c0015t0001g0120 a0003c0015t0001g0121 a0003c0021t0001g0003 a0003c0021t0001g0069 a0003c0038t0001g0075 a0003c0038t0001g0079 a0003c0081t0001g0150 a0003c0088t0001g0003 a0003c0100t0001g0003 a0003c0101t0001g0003 a0003c0109t0001g0080 a0003c0110t0001g0054 a0003c0111t0001g0020 a0003c0114t0001g0063 a0005c0008t0001g0001 a0005c0008t0001g0101 a0005c0022t0001g0001 a0005c0022t0001g0049 a0005c0022t0001g0095 a0009c0012t0001g0001 a0009c0012t0001g0018 a0009c0012t0001g0104 a0010c0018t0001g0028 a0010c0018t0001g0173 a0011c0035t0001g0086 a0011c0035t0001g0087 a0011c0095t0001g0107 a0013c0031t0001g0053 a0013c0031t0001g0072 a0013c0078t0001g0047 a0016c0034t0001g0071 a0016c0034t0001g0077 a0018c0037t0001g0117 a0018c0037t0001g0118 a0019c0116t0001g0056 a0019c0117t0001g0066 a0020c0040t0003g0199 a0020c0041t0002g0197 a0026c0104t0001g0196 a0027c0119t0001g0089 a0030c0105t0001g0065 a0038c0086t0001g0001 a0039c0085t0001g0076 a0040c0091t0001g0067 a0042c0083t0003g0043 a0043c0113t0001g0057 a0044c0103t0001g0020 a0045c0097t0001g0088 a0047c0042t0001g0198 a0049c0106t0001g0040 a0052c0115t0001g0022 a0053c0112t0001g0108 a0056c0102t0001g0003 a0059c0084t0001g0003 a0060c0075t0001g0128 a0063c0107t0001g0093 a0065c0051t0001g0179 a0066c0099t0003g0114 a0069c0118t0001g0052	134	275	0.4873	192	c.687 others(201): Show c.6872_6873insCACAACTTCTGTCCCTACAACCAGCACAATCTCTGG TCCTAAAACTACTCCGAGCCCTGTTCCTACCACCAGCACAACCTCTGCTG CTACAACAAGCACAATCTCTGCTCCTACAACGAGCACAACTTCTGTCCCT GGAACTACTCCCAGCCCTGTTCTCACCACCAGCACAACCTCTGCTCCTAC AACCAG	p.Thr others(207): Show p.Thr2290_Arg2291insSerThrThrSerValProThrThrSerThr IleSerGlyProLysThrThrProSerProValProThrThrSerThrTh rSerAlaAlaThrThrSerThrIleSerAlaProThrThrSerThrThrS erValProGlyThrThrProSerProValLeuThrThrSerThrThrSer AlaProThrThr	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	6920/17448	6873/16965	2291/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1184994	A A	AACAACCT others(185): Show AACAACCTCTGCTCCTACAACCAGCACAACTTCTGTCCCTACAACCAGCA CAATCTCTGGTCCTAAAACTACTCCGAGCCCTGTTCCTACCACGAGCACA ACCTCTGCTGCTACAACAAGCACAATCTCTGCTCCTACAACGAGCACAAC TTCTGTCCCTGGAACTACTCCCAGCCCTGTTCTCACCACCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01943.hp2 HG02451.hp2 HG01943.hp2 HG02451.hp2	a0021 a0021	a0021c0033 a0021c0033	a0021c0033t0001 a0021c0033t0001	a0021c0033t0001g0032 a0021c0033t0001g0033 a0021c0033t0001g0032 a0021c0033t0001g0033	2	143	0.0140	192	c.687 others(201): Show c.6872_6873insCACAACTTCTGTCCCTACAACCAGCACAATCTCTGG TCCTAAAACTACTCCGAGCCCTGTTCCTACCACGAGCACAACCTCTGCTG CTACAACAAGCACAATCTCTGCTCCTACAACGAGCACAACTTCTGTCCCT GGAACTACTCCCAGCCCTGTTCTCACCACCAGCACAACCTCTGCTCCTAC AACCAG	p.Thr others(207): Show p.Thr2290_Arg2291insSerThrThrSerValProThrThrSerThr IleSerGlyProLysThrThrProSerProValProThrThrSerThrTh rSerAlaAlaThrThrSerThrIleSerAlaProThrThrSerThrThrS erValProGlyThrThrProSerProValLeuThrThrSerThrThrSer AlaProThrThr	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	6920/17448	6873/16965	2291/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1184994	A A	AACAACCT others(185): Show AACAACCTCTGCTCCTACAACCAGCACAACTTCTGTCCCTACAACCAGCA CAATCTCTGGTCCTGAAACTACTCCGAGCCCTGTTCCTACCACCAGCACA ACCTCTGCTGCTACAACAAGCACAATCTCTGCTCCTACAACGAGCACAAC TTCTGTCCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00733.hp2 HG01099.hp2 others(10): Show HG00099.hp2 HG00733.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01516.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp2 NA20805.hp1	a0008 a0012 a0015 others(4): Show a0008 a0012 a0015 a0029 a0036 a0046 a0048	a0008c0019 a0008c0082 a0012c0020 others(5): Show a0008c0019 a0008c0082 a0012c0020 a0015c0029 a0029c0039 a0036c0080 a0046c0092 a0048c0071	a0008c0019t0002 a0008c0082t0002 a0012c0020t0002 others(5): Show a0008c0019t0002 a0008c0082t0002 a0012c0020t0002 a0015c0029t0002 a0029c0039t0002 a0036c0080t0002 a0046c0092t0002 a0048c0071t0002	a0008c0019t0002g0008 a0008c0082t0002g0042 a0012c0020t0002g0009 others(6): Show a0008c0019t0002g0008 a0008c0082t0002g0042 a0012c0020t0002g0009 a0015c0029t0002g0017 a0015c0029t0002g0044 a0029c0039t0002g0045 a0036c0080t0002g0017 a0046c0092t0002g0050 a0048c0071t0002g0127	13	154	0.0844	192	c.687 others(201): Show c.6872_6873insCACAACTTCTGTCCCTACAACCAGCACAATCTCTGG TCCTGAAACTACTCCGAGCCCTGTTCCTACCACCAGCACAACCTCTGCTG CTACAACAAGCACAATCTCTGCTCCTACAACGAGCACAACTTCTGTCCCT GGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAC AACCAG	p.Thr others(207): Show p.Thr2290_Arg2291insSerThrThrSerValProThrThrSerThr IleSerGlyProGluThrThrProSerProValProThrThrSerThrTh rSerAlaAlaThrThrSerThrIleSerAlaProThrThrSerThrThrS erValProGlyThrThrProSerProValProThrThrSerThrThrSer AlaProThrThr	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	6920/17448	6873/16965	2291/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO16_chr13_108624611_109213005	109023403	A A	ATATATTA others(185): Show ATATATTATACAGATATAAATATATATTTATATATTATACAGATATAAAT ATATATTTATATATTATACAGATATAAATATATATTTATATATTATACAG ATATAAATATATATATATTATACAGATATAAATATATATATATTATACAG ATATAAATATATATTTATATATTATACAGATATAAATATATCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0006 a0001c0045t0006	a0001c0045t0006g0051 a0001c0045t0006g0051	1	126	0.0079	192	c.279 others(211): Show c.2796+3607_2796+3608insATTATACAGATATAAATATATATATA TTATACAGATATAAATATATATTTATATATTATACAGATATAAATATATC TTATATTATACAGATATAAATATATATTTATATATTATACAGATATAAAT ATATATTTATATATTATACAGATATAAATATATATTTATATATTATACAG ATATAAATATATATAT		MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1F_chr19_8515778_8582442	8543675	C C	CTGGTGGT others(185): Show CTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGG TGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0005 a0001c0023t0005	a0001c0023t0005g0118 a0001c0023t0005g0118	1	234	0.0043	192	c.152 others(209): Show c.1524+621_1524+622insCCAGCACCACCAGCACCACCACCACCAC CACCACCACCACCACCACCACCAGCACCACCACCACCACCACCAGCACCA CCAGCACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCAGCACCACCACCACCACCACCAGCACCACCAGCAC CACCACCACCACCA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543892	T T	TGCTGGTG others(185): Show TGCTGGTGGTGCTGGTGGTGGTGCTGGTGGTGGTGCTGGTGCTGGTGGTG GTGATGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGT GCTGGTGCTGGTGCTGGTGGTGCTGGTGCTGGTGCTGGTGGTGGTGCTGG TGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	258	0.0039	192	c.152 others(209): Show c.1524+404_1524+405insGCCACCGCCACCGCCACCGCCACCGCCA CCGCCACCGCCACCACCAGCACCACCACCAGCACCAGCACCAGCACCACC AGCACCAGCACCAGCACCACCACCACCACCACCACCAGCACCACCAGCAC CACCAGCACCATCACCACCACCAGCACCAGCACCACCACCAGCACCACCA CCAGCACCACCAGC		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYO7A_chr11_77123246_77220241	77193080	T T	TGATGGTG others(185): Show TGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAG GTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGG TAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGTTGGTGATG GTGGAGGTGGTGATGGTGTTGTTGATGGTGGAGGTAGTGATGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0043 a0043	a0043c0062 a0043c0062	a0043c0062t0001 a0043c0062t0001	a0043c0062t0001g0084 a0043c0062t0001g0084	1	173	0.0058	192	c.415 others(209): Show c.4152+802_4152+803insGATGGTGTTGGTGATGGTGGAGGTAGTG ATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGA TGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTA GCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGTTGATGGT GGAGGTAGTGATGG		MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48						chr11	TogoVar
NAALAD2_chr11_90129663_90197894	90154996	T T	TATATATT others(185): Show TATATATTATATACGTATACATAATATGTATATATTATATACGTATACAT AATATGTATATATTATATACGTATACATAATATGTATATATTATATACGT ATACATAATATGTATATATTATATACGTATACATAATATGTATATATTAT ATACGTATACATAATATATGTATATATTATATACGTATACATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02723.hp2 HG03486.hp2 HG01346.hp2 HG02723.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0005 a0001c0002t0001 a0003c0004t0005	a0001c0002t0001g0233 a0001c0002t0001g0309 a0003c0004t0005g0235 a0001c0002t0001g0233 a0001c0002t0001g0309 a0003c0004t0005g0235	3	286	0.0105	192	c.796 others(209): Show c.796+2514_796+2515insATATTATATACGTATACATAATATGTAT ATATTATATACGTATACATAATATGTATATATTATATACGTATACATAAT ATGTATATATTATATACGTATACATAATATGTATATATTATATACGTATA CATAATATGTATATATTATATACGTATACATAATATATGTATATATTATA TACGTATACATAAT		NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	175013167	G G	GTAATATA others(185): Show GTAATATATATTTATATGTAAATATGTAATATATATTTATATATAAATAT GTAATATATATTTATATATAAATATGTAAAATATATTTATATATAAATAT ATATACATAAATATATAATATATATTTATATATAAATATATATACATAAA TATATAATATATATTTATATATAAATATATATACATAAATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0026	1	34	0.0294	192	c.44- others(209): Show c.44-83618_44-83617insTATATTTATATGTAAATATGTAATATAT ATTTATATATAAATATGTAATATATATTTATATATAAATATGTAAAATAT ATTTATATATAAATATATATACATAAATATATAATATATATTTATATATA AATATATATACATAAATATATAATATATATTTATATATAAATATATATAC ATAAATATATAATA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAGK_chr2_71063648_71084808	71081020	T T	TTTTATTT others(185): Show TTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT ATTTTATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTT ATTTCATTTCATTTCATTTTATTTGATTTTATTTTATATTTGATTTGATT TGATTTGATTTGATTTGATTTGATTTGATTTGATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0049 a0001c0004t0004g0049	1	357	0.0028	192	c.25 others(203): Show c.2512_*2513insTTTATTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTC ATTTCATTTCATTTTATTTCATTTCATTTCATTTTATTTGATTTTATTTT ATATTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTGATT TTATTTTA		NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding					1213		chr2	TogoVar
NBDY_chrX_56724243_56824179	56725501	G G	GTAACAAT others(185): Show GTAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATAT TGTTATATATACATATAACAATATTGTTATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTT ATATATACATATAACAATATTGTTATATTGTTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 NA18522.hp1 HG01255.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0128 a0001c0001t0001g0132	2	53	0.0377	192	c.-38 others(203): Show c.-3853_-3852insTAACAATATTGTTATATTGTTATATATACATATA ACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGT TATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATA		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding					3741		chrX	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(185): Show ACCCCCCCCCCCCGGTGCGCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	86	0.0116	192	c.-41 others(203): Show c.-4198_-4197insCCCCCCCCCCCCGGTGCGCGGCCTTACCCCTGCA CCCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCC		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4083		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504231	C C	CCCCCCCC others(185): Show CCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	382	0.0026	192	c.-41 others(203): Show c.-4107_-4106insCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTG CACCCCGGGCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCC CGGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACA		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3992		chr22	TogoVar
NCOR2_chr12_124319415_124572612	124320628	A A	AGGTGGGA others(185): Show AGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACCTCTTTCTTT GGGGGTAGGTGGGATGACCTCTTTGGGGGTAGGTGAGATGACCTCTTTCT TTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCT CTTTGTTTGCGGGTAGGTGAGATGACCTCTTTCTTTGGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(156): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0015 a0019 a0022 a0026 a0027 a0029 a0030 a0031	a0001c0003 a0001c0005 a0001c0009 others(106): Show a0001c0003 a0001c0005 a0001c0009 a0001c0013 a0001c0022 a0001c0023 a0001c0026 a0001c0028 a0001c0029 a0001c0031 a0001c0032 a0001c0038 a0001c0048 a0001c0049 a0001c0050 a0001c0052 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0085 a0001c0087 a0001c0089 a0001c0090 a0001c0093 a0001c0097 a0001c0098 a0001c0131 a0001c0132 a0001c0136 a0001c0145 a0001c0146 a0001c0147 a0001c0148 a0001c0149 a0002c0001 a0002c0006 a0002c0014 a0002c0015 a0002c0016 a0002c0017 a0002c0033 a0002c0034 a0002c0039 a0002c0059 a0002c0105 a0002c0108 a0002c0114 a0002c0115 a0002c0118 a0002c0119 a0002c0120 a0002c0121 a0002c0122 a0002c0123 a0002c0124 a0002c0150 a0002c0152 a0002c0153 a0002c0154 a0003c0011 a0003c0012 a0003c0024 a0003c0025 a0003c0042 a0003c0043 a0003c0044 a0003c0045 a0003c0070 a0003c0071 a0003c0072 a0003c0074 a0003c0075 a0003c0078 a0003c0143 a0004c0010 a0004c0051 a0004c0054 a0004c0083 a0004c0094 a0004c0095 a0004c0096 a0005c0019 a0005c0064 a0005c0067 a0005c0139 a0005c0140 a0005c0141 a0006c0007 a0006c0041 a0006c0080 a0008c0035 a0008c0036 a0008c0125 a0010c0062 a0011c0037 a0011c0128 a0011c0156 a0012c0102 a0012c0103 a0013c0112 a0015c0137 a0019c0135 a0022c0104 a0026c0130 a0027c0133 a0029c0158 a0030c0129 a0031c0111	a0001c0003t0004 a0001c0003t0012 a0001c0003t0016 others(144): Show a0001c0003t0004 a0001c0003t0012 a0001c0003t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0008 a0001c0005t0009 a0001c0009t0002 a0001c0009t0003 a0001c0009t0008 a0001c0013t0002 a0001c0013t0003 a0001c0013t0009 a0001c0022t0002 a0001c0022t0008 a0001c0023t0004 a0001c0023t0006 a0001c0026t0060 a0001c0028t0033 a0001c0029t0002 a0001c0029t0018 a0001c0031t0013 a0001c0031t0035 a0001c0032t0002 a0001c0032t0020 a0001c0038t0005 a0001c0048t0064 a0001c0049t0042 a0001c0050t0008 a0001c0052t0003 a0001c0055t0016 a0001c0056t0004 a0001c0057t0041 a0001c0058t0032 a0001c0085t0013 a0001c0087t0067 a0001c0089t0011 a0001c0090t0004 a0001c0093t0010 a0001c0097t0002 a0001c0098t0007 a0001c0131t0011 a0001c0132t0035 a0001c0136t0003 a0001c0145t0009 a0001c0146t0011 a0001c0147t0009 a0001c0148t0009 a0001c0149t0013 a0002c0001t0001 a0002c0001t0003 a0002c0001t0007 a0002c0001t0010 a0002c0001t0015 a0002c0001t0080 a0002c0006t0002 a0002c0006t0008 a0002c0006t0010 a0002c0006t0020 a0002c0006t0076 a0002c0014t0001 a0002c0014t0017 a0002c0015t0005 a0002c0015t0069 a0002c0015t0078 a0002c0016t0004 a0002c0016t0016 a0002c0017t0068 a0002c0017t0070 a0002c0017t0072 a0002c0033t0047 a0002c0033t0056 a0002c0034t0006 a0002c0039t0015 a0002c0059t0006 a0002c0105t0074 a0002c0108t0028 a0002c0114t0018 a0002c0115t0007 a0002c0118t0005 a0002c0119t0079 a0002c0120t0003 a0002c0121t0028 a0002c0122t0002 a0002c0123t0013 a0002c0124t0015 a0002c0150t0001 a0002c0152t0040 a0002c0153t0005 a0002c0154t0011 a0003c0011t0002 a0003c0011t0018 a0003c0011t0081 a0003c0012t0002 a0003c0012t0003 a0003c0012t0013 a0003c0024t0003 a0003c0025t0011 a0003c0042t0017 a0003c0043t0002 a0003c0044t0045 a0003c0045t0046 a0003c0070t0049 a0003c0071t0023 a0003c0072t0062 a0003c0074t0005 a0003c0075t0003 a0003c0078t0018 a0003c0143t0005 a0004c0010t0021 a0004c0051t0061 a0004c0054t0023 a0004c0083t0004 a0004c0094t0063 a0004c0095t0034 a0004c0096t0005 a0005c0019t0008 a0005c0019t0010 a0005c0064t0028 a0005c0067t0008 a0005c0139t0040 a0005c0140t0012 a0005c0141t0010 a0006c0007t0006 a0006c0007t0034 a0006c0041t0006 a0006c0080t0024 a0008c0035t0007 a0008c0035t0010 a0008c0036t0015 a0008c0125t0058 a0010c0062t0002 a0011c0037t0002 a0011c0037t0050 a0011c0128t0007 a0011c0156t0007 a0012c0102t0007 a0012c0103t0054 a0013c0112t0007 a0015c0137t0005 a0019c0135t0005 a0022c0104t0020 a0026c0130t0016 a0027c0133t0038 a0029c0158t0032 a0030c0129t0038 a0031c0111t0004	a0001c0003t0004g0053 a0001c0003t0004g0072 a0001c0003t0012g0046 others(156): Show a0001c0003t0004g0053 a0001c0003t0004g0072 a0001c0003t0012g0046 a0001c0003t0012g0070 a0001c0003t0012g0105 a0001c0003t0016g0021 a0001c0005t0002g0099 a0001c0005t0002g0100 a0001c0005t0003g0186 a0001c0005t0008g0071 a0001c0005t0009g0080 a0001c0009t0002g0081 a0001c0009t0003g0228 a0001c0009t0008g0025 a0001c0013t0002g0022 a0001c0013t0003g0142 a0001c0013t0009g0003 a0001c0022t0002g0034 a0001c0022t0008g0030 a0001c0023t0004g0051 a0001c0023t0006g0019 a0001c0026t0060g0110 a0001c0028t0033g0137 a0001c0029t0002g0040 a0001c0029t0018g0154 a0001c0031t0013g0073 a0001c0031t0035g0213 a0001c0032t0002g0078 a0001c0032t0020g0096 a0001c0038t0005g0156 a0001c0038t0005g0199 a0001c0048t0064g0182 a0001c0049t0042g0089 a0001c0050t0008g0035 a0001c0052t0003g0215 a0001c0055t0016g0049 a0001c0056t0004g0091 a0001c0057t0041g0106 a0001c0058t0032g0007 a0001c0085t0013g0088 a0001c0087t0067g0126 a0001c0089t0011g0016 a0001c0090t0004g0052 a0001c0093t0010g0214 a0001c0097t0002g0102 a0001c0098t0007g0178 a0001c0131t0011g0064 a0001c0132t0035g0129 a0001c0136t0003g0194 a0001c0145t0009g0067 a0001c0146t0011g0060 a0001c0147t0009g0097 a0001c0148t0009g0068 a0001c0149t0013g0029 a0002c0001t0001g0220 a0002c0001t0003g0157 a0002c0001t0003g0173 a0002c0001t0007g0177 a0002c0001t0010g0204 a0002c0001t0015g0180 a0002c0001t0080g0231 a0002c0006t0002g0024 a0002c0006t0008g0008 a0002c0006t0010g0218 a0002c0006t0020g0092 a0002c0006t0076g0179 a0002c0014t0001g0120 a0002c0014t0001g0223 a0002c0014t0017g0055 a0002c0015t0005g0140 a0002c0015t0069g0227 a0002c0015t0078g0232 a0002c0016t0004g0005 a0002c0016t0004g0011 a0002c0016t0016g0074 a0002c0017t0068g0146 a0002c0017t0070g0113 a0002c0017t0072g0147 a0002c0033t0047g0054 a0002c0033t0056g0043 a0002c0034t0006g0036 a0002c0034t0006g0037 a0002c0039t0015g0226 a0002c0059t0006g0020 a0002c0105t0074g0139 a0002c0108t0028g0162 a0002c0114t0018g0141 a0002c0115t0007g0167 a0002c0118t0005g0149 a0002c0119t0079g0233 a0002c0120t0003g0200 a0002c0121t0028g0117 a0002c0122t0002g0039 a0002c0123t0013g0103 a0002c0124t0015g0134 a0002c0150t0001g0158 a0002c0152t0040g0217 a0002c0153t0005g0219 a0002c0154t0011g0063 a0003c0011t0002g0090 a0003c0011t0018g0221 a0003c0011t0081g0234 a0003c0012t0002g0014 a0003c0012t0003g0222 a0003c0012t0013g0041 a0003c0024t0003g0197 a0003c0024t0003g0198 a0003c0025t0011g0045 a0003c0042t0017g0095 a0003c0043t0002g0086 a0003c0044t0045g0061 a0003c0045t0046g0031 a0003c0070t0049g0094 a0003c0071t0023g0195 a0003c0072t0062g0136 a0003c0074t0005g0127 a0003c0075t0003g0191 a0003c0078t0018g0123 a0003c0143t0005g0171 a0004c0010t0021g0077 a0004c0051t0061g0181 a0004c0054t0023g0202 a0004c0083t0004g0093 a0004c0094t0063g0193 a0004c0095t0034g0209 a0004c0096t0005g0166 a0005c0019t0008g0038 a0005c0019t0010g0216 a0005c0064t0028g0161 a0005c0067t0008g0026 a0005c0139t0040g0212 a0005c0140t0012g0002 a0005c0141t0010g0184 a0006c0007t0006g0027 a0006c0007t0006g0028 a0006c0007t0006g0032 a0006c0007t0034g0109 a0006c0041t0006g0001 a0006c0080t0024g0188 a0008c0035t0007g0224 a0008c0035t0010g0225 a0008c0036t0015g0175 a0008c0125t0058g0164 a0010c0062t0002g0010 a0011c0037t0002g0083 a0011c0037t0050g0082 a0011c0128t0007g0155 a0011c0156t0007g0190 a0012c0102t0007g0176 a0012c0103t0054g0006 a0013c0112t0007g0183 a0015c0137t0005g0128 a0019c0135t0005g0138 a0022c0104t0020g0004 a0026c0130t0016g0047 a0027c0133t0038g0160 a0029c0158t0032g0023 a0030c0129t0038g0189 a0031c0111t0004g0042	159	172	0.9244	192	c.47 others(203): Show c.4773_*4774insAACCCCCAAAGAAAGAGGTCATCTCACCTACCCG CAAACAAAGAGGTCATCCCACTTACCCCCAAAGAAAGAGGTCATCCCACC AACCCCCAAAGAAAGAGGTCATCTCACCTACCCCCAAAGAGGTCATCCCA CCTACCCCCAAAGAAAGAGGTCATCCCACCTACCCCCAAAGAAAGAGGTC ATCCCACC		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding					3786		chr12	TogoVar
NCOR2_chr12_124319415_124572612	124320628	A A	AGGTGGGA others(185): Show AGGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACCTCTTTCTTT GGGGGTAGGTGGGATGACCTCTTTGGGGGTAGGTGAGATGACCTCTTTCT TTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCT CTTTGTTTGCGGGTAGGTGAGATGACCTCTTTCTTTGGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG01891.hp1 HG02055.hp1	a0002 a0008 a0002 a0008	a0002c0109 a0008c0126 a0002c0109 a0008c0126	a0002c0109t0001 a0008c0126t0001 a0002c0109t0001 a0008c0126t0001	a0002c0109t0001g0205 a0008c0126t0001g0107 a0002c0109t0001g0205 a0008c0126t0001g0107	2	15	0.1333	192	c.47 others(203): Show c.4773_*4774insAACCCCCAAAGAAAGAGGTCATCTCACCTACCCG CAAACAAAGAGGTCATCCCACTTACCCCCAAAGAAAGAGGTCATCCCACC AACCCCCAAAGAAAGAGGTCATCTCACCTACCCCCAAAGAGGTCATCCCA CCTACCCCCAAAGAAAGAGGTCATCCCACCCACCCCCAAAGAAAGAGGTC ATCCCACC		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding					3786		chr12	TogoVar
NCOR2_chr12_124319415_124572612	124439327	G G	GGAGAGAC others(185): Show GGAGAGACAGAGACCCAGAGACAGAGACCCAGAGACAGAGGAAGACAGAA ACCCAGAGAGAGGGAAACAGAGACCCAGAGAGAGAGAGACGGAAACCCAG AGACAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGAG AGAGAAAGAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG03041.hp1 HG02055.hp2 HG02258.hp1 HG03041.hp1	a0002 a0012 a0002 a0012	a0002c0017 a0012c0103 a0002c0017 a0012c0103	a0002c0017t0068 a0002c0017t0072 a0012c0103t0054 a0002c0017t0068 a0002c0017t0072 a0012c0103t0054	a0002c0017t0068g0146 a0002c0017t0072g0147 a0012c0103t0054g0006 a0002c0017t0068g0146 a0002c0017t0072g0147 a0012c0103t0054g0006	3	229	0.0131	192	c.816 others(209): Show c.816-1332_816-1331insTGGGTCTCTGTCTCCCTCTCTCTGGGTC TCTGTCTCTTTCTCTCTCTGGGTCTCTGTCTCCCTCTGTCTCTGGGTCTC TGTCTCCCTCTGTCTCTGGGTTTCCGTCTCTCTCTCTCTGGGTCTCTGTT TCCCTCTCTCTGGGTTTCTGTCTTCCTCTGTCTCTGGGTCTCTGTCTCTG GGTCTCTGTCTCTC		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48						chr12	TogoVar
NCOR2_chr12_124319415_124572612	124439327	G G	GGAGAGAC others(185): Show GGAGAGACAGAGACCCAGAGACAGAGACCCAGAGACAGAGGGAGACAGAA ACCCAGAGAGAGGGAAACAGAGACCCAGAGAGAGAGAGACGGAAACCCAG AGACAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGAG AGAGAAAGAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp2 HG03579.hp1 HG02572.hp1 HG02965.hp2 HG03579.hp1	a0002 a0014 a0016 a0002 a0014 a0016	a0002c0001 a0014c0155 a0016c0157 a0002c0001 a0014c0155 a0016c0157	a0002c0001t0080 a0014c0155t0001 a0016c0157t0001 a0002c0001t0080 a0014c0155t0001 a0016c0157t0001	a0002c0001t0080g0231 a0014c0155t0001g0135 a0016c0157t0001g0131 a0002c0001t0080g0231 a0014c0155t0001g0135 a0016c0157t0001g0131	3	229	0.0131	192	c.816 others(209): Show c.816-1332_816-1331insTGGGTCTCTGTCTCCCTCTCTCTGGGTC TCTGTCTCTTTCTCTCTCTGGGTCTCTGTCTCCCTCTGTCTCTGGGTCTC TGTCTCCCTCTGTCTCTGGGTTTCCGTCTCTCTCTCTCTGGGTCTCTGTT TCCCTCTCTCTGGGTTTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCTG GGTCTCTGTCTCTC		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48						chr12	TogoVar
NEU4_chr2_241804193_241822413	241807178	T T	TTCCCTCC others(185): Show TTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCCACCTTCCCTCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0172 a0002c0003t0002g0172	1	168	0.0060	192	c.-21 others(203): Show c.-2100_-2099insTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCC ACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCGGCA GGCCACCC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2014		chr2	TogoVar
NF1_chr17_31089977_31382675	31335275	T T	TATATATA others(185): Show TATATATATATATATATATATATATGTATATAATTATATAGGATTATATG TAGGATTATATTATAAATATAATATATATTATAATATATAATATATATTA TATATTATATATTATATAATATATAAATATAATATATAAATATAAAATAT ATTATAAATATAATCCTACATATAATCCTATATAATTATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0163 a0001c0002t0004g0163	1	228	0.0044	192	c.600 others(209): Show c.6006+265_6006+266insTATGTATATAATTATATAGGATTATATG TAGGATTATATTATAAATATAATATATATTATAATATATAATATATATTA TATATTATATATTATATAATATATAAATATAATATATAAATATAAAATAT ATTATAAATATAATCCTACATATAATCCTATATAATTATATACATATATA TATATATATATATA		NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57					INFO_REALIGN_3_PRIME	chr17	TogoVar
NFATC1_chr18_79390930_79534323	79494475	G G	GGGGGAAG others(185): Show GGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0114 a0001c0013t0005g0114	1	152	0.0066	192	c.278 others(211): Show c.2782+7579_2782+7580insACGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATCGACCTGGTACCGCCAGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar

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