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
ZBTB42_chr14_104796101_104809712	104808338	G G	GAGCACCC others(487): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGC CGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	70	0.0143	494	c.58 others(505): Show c.5872_*5873insAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAG GATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCC GTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACC CCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCC AGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGG CCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCA CCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCC CCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAA GGCCGTACAC		ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding					3627		chr14	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(487): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTACATATGTATATATA TGTATATATGTATATATACATATGTATATATATGTACATATGTATATATA TACATGTATACATATGTATACATGTATATATATACATATGTATACATGTA TATATGTATATATATACATGTATACATATGTATATATGTATACATATGTA TATATGTATATATGTATAAATATACATATGTATATATATGTATATATGTA TACATATGTATATATACATATGTATATATATGTATATATGTATACATATG TATATATACATATGTATATATATGTATACATATGCATATATACATATGTA TATATATGTATATATGTATACATATGTATATATGCATATATATACATATG TATATATGCATATATATACATATGTGTATATATGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	93	0.0108	494	c.-15 others(515): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTACATATGTAT ATATATGTATATATGTATATATACATATGTATATATATGTACATATGTAT ATATATACATGTATACATATGTATACATGTATATATATACATATGTATAC ATGTATATATGTATATATATACATGTATACATATGTATATATGTATACAT ATGTATATATGTATATATGTATAAATATACATATGTATATATATGTATAT ATGTATACATATGTATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATACATATGTATATATATGTATACATATGCATATATACAT ATGTATATATATGTATATATGTATACATATGTATATATGCATATATATAC ATATGTATATATGCATATATATACATATGTGTATATATGTATATGTATAC ATATGTGTATATATGTATAT		ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(487): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATACATATCACATATATCATATATAT CATACATATCACATATATCATATATATCATACATATCACATATATGATAT ATATCATATATATCACATATATCATATATATCATATATATCACATATATG ATATATATATCATATATATCACATATATGATATATATATCATATATATCA CATATATGATATATATATCATATATATCACATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18974.hp1 NA18960.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	194	0.0103	494	c.-36 others(505): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATACATATCAC ATATATCATATATATCATACATATCACATATATCATATATATCATACATA TCACATATATGATATATATCATATATATCACATATATCATATATATCATA TATATCACATATATGATATATATATCATATATATCACATATATGATATAT ATATCATATATATCACATATATGATATATATATCATATATATCACATATA TGATATATAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3568		chr10	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(487): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATTTATATATATAGAAATATATATATAT TTATATATATATAAATATATATATTTATATATATATAAATATATATATAT TTATATATATATAAATATATATATATTTCTATATATATATAAATATATAT ATATTTCTATATATATATAAATATATATATATTTCTATATATATAAATAT ATATATATATAAATATATATATAAATATATATTTATATATATATAAATAT ATATATATAAATATATATAAATATATATATATTTATATATATAAATATAT ATATATTTATATATATAAATAAATATATATTTATATATATAAATAAATAT ATATTTATATATATAAATATATATATTTTTATATATATAAATATATATAT TTTTATATATATAAATATATATATTTTTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	59	0.0169	494	c.532 others(509): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAAAATATATATATT TATATATATAAATATATATTTATTTATATATATAAATATATATTTATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATTTATATATATATATTTATATATATATAAATATATATTTATATATA TATTTATATATATATATATTTATATATATAGAAATATATATATATTTATA TATATATAGAAATATATATATATTTATATATATATAGAAATATATATATA TTTATATATATATAAATATATATATATTTATATATATATAAATATATATA TTTATATATATATAAATATATATATATTTCTATATATATAAATATATATA TTTCTATATATATAAATATATATATTTATATATATAGAAATATATATATA TTTATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(488): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATG AGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGT GGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAA TGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGGG TGGGATGGATAAATGGGTGGGTGGAATGGATAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00639.hp1 others(40): Show HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01099.hp2 HG01168.hp1 HG01257.hp1 HG01884.hp1 HG02132.hp2 HG02602.hp1 HG02723.hp1 HG02809.hp1 HG03098.hp1 HG03516.hp2 HG04204.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18951.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19066.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0010 a0022 a0039 a0042	a0001c0002 a0001c0026 a0001c0028 others(6): Show a0001c0002 a0001c0026 a0001c0028 a0004c0017 a0005c0012 a0010c0015 a0022c0041 a0039c0037 a0042c0061	a0001c0002t0001 a0001c0002t0002 a0001c0026t0001 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0026t0001 a0001c0028t0001 a0004c0017t0001 a0005c0012t0001 a0010c0015t0001 a0022c0041t0001 a0039c0037t0001 a0042c0061t0001	a0001c0002t0001g0010 a0001c0002t0001g0023 a0001c0002t0001g0025 others(40): Show a0001c0002t0001g0010 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0054 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0132 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0167 a0001c0002t0001g0175 a0001c0002t0001g0222 a0001c0002t0001g0231 a0001c0002t0001g0287 a0001c0002t0001g0310 a0001c0002t0001g0354 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0026t0001g0096 a0001c0028t0001g0279 a0001c0028t0001g0295 a0004c0017t0001g0193 a0004c0017t0001g0214 a0004c0017t0001g0254 a0005c0012t0001g0121 a0005c0012t0001g0131 a0005c0012t0001g0139 a0005c0012t0001g0140 a0005c0012t0001g0179 a0010c0015t0001g0018 a0010c0015t0001g0019 a0010c0015t0001g0022 a0010c0015t0001g0327 a0022c0041t0001g0216 a0039c0037t0001g0355 a0042c0061t0001g0130	43	132	0.3258	495	c.278 others(512): Show c.2787+965_2787+966insTTAGCCATCCCACCCACCCATTTATCCA TCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATTCCACCC ACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTT AGCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCC CACCCACCCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACT CATTTATCCATCCATCCCACCCATTTATCCATCCCACCCACCCATTTATC CATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCAT TTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCAT CCATCCCACCCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTATCCATCCC		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABR_chr17_998519_1184981	1153721	A A	ACGGGAGG others(488): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTG GGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGG CTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTA CGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18967.hp2 NA18947.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0320 a0001c0001t0010g0322 a0001c0001t0004g0320 a0001c0001t0010g0322	2	241	0.0083	495	c.61+ others(512): Show c.61+25945_61+25946insCAGGTGTGCCTGGGTCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCT GGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAG GTGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACC CCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
AHNAK2_chr14_104932253_104983374	104943884	T T	TGGGGCTG others(488): Show TGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGG GAGACTCACATCGGCCTCCACCTTGGGTGCAGACACGTGCACCGAGGCCT CAATGGACTTGCCTGGGGCAGACACCCCAAATGACGGCATCTTGAACTTG GGCATTTTGAATTTGCTGTCTTTGGCAGTCACATCCTTGTTGGCCAGGGA CAGGTCCCCCTCCAGCTGTGCACTATCCAGTTTGGCTCTTGGGGCCTGGA CGTCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACT TCCGCCTTGGAGACTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTG GGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTGGGCATCTCCACCT TGGGCAGGTGCTCTTTGAGGCCGGCTCCCTCGGGCACCTGGCCCTCCGGG AGCTTCACATCCATCTGGCCAGCCTGGACCTTCAGGTCGGCAGAAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02630.hp1 HG02723.hp1 NA20129.hp2 HG02630.hp1 HG02723.hp1 NA20129.hp2	a0008 a0074 a0114 a0008 a0074 a0114	a0008c0010 a0074c0103 a0114c0101 a0008c0010 a0074c0103 a0114c0101	a0008c0010t0003 a0074c0103t0002 a0114c0101t0003 a0008c0010t0003 a0074c0103t0002 a0114c0101t0003	a0008c0010t0003g0127 a0074c0103t0002g0080 a0114c0101t0003g0251 a0008c0010t0003g0127 a0074c0103t0002g0080 a0114c0101t0003g0251	3	354	0.0085	495	c.115 others(506): Show c.11566_11567insCTTCTGCCGACCTGAAGGTCCAGGCTGGCCAGAT GGATGTGAAGCTCCCGGAGGGCCAGGTGCCCGAGGGAGCCGGCCTCAAAG AGCACCTGCCCAAGGTGGAGATGCCCAGTTTGAAGATGCCCAAAGTGGAC CTCAAGGGCCCCCAGGTGGACATCAAGGGCCCCAAGCTGGACCTAAAAGT CTCCAAGGCGGAAGTCACAGCCCCTGATGTGGAGGTGTCTCTGCCCAGCG TGGAGGTGGACGTCCAGGCCCCAAGAGCCAAACTGGATAGTGCACAGCTG GAGGGGGACCTGTCCCTGGCCAACAAGGATGTGACTGCCAAAGACAGCAA ATTCAAAATGCCCAAGTTCAAGATGCCGTCATTTGGGGTGTCTGCCCCAG GCAAGTCCATTGAGGCCTCGGTGCACGTGTCTGCACCCAAGGTGGAGGCC GATGTGAGTCTCCCCTCCATGCAGGGGGACCTCAAGACCACTGACCTCAG CATTCAGCCCC	p.Pro others(510): Show p.Pro3855_His3856insProSerAlaAspLeuLysValGlnAlaGly GlnMetAspValLysLeuProGluGlyGlnValProGluGlyAlaGlyLe uLysGluHisLeuProLysValGluMetProSerLeuLysMetProLysV alAspLeuLysGlyProGlnValAspIleLysGlyProLysLeuAspLeu LysValSerLysAlaGluValThrAlaProAspValGluValSerLeuPr oSerValGluValAspValGlnAlaProArgAlaLysLeuAspSerAlaG lnLeuGluGlyAspLeuSerLeuAlaAsnLysAspValThrAlaLysAsp SerLysPheLysMetProLysPheLysMetProSerPheGlyValSerAl aProGlyLysSerIleGluAlaSerValHisValSerAlaProLysValG luAlaAspValSerLeuProSerMetGlnGlyAspLeuLysThrThrAsp LeuSerIleGlnPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	11703/18335	11566/17388	3856/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104945938	T T	TGGCGCAG others(488): Show TGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACA CCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTG GCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACC ATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAG ACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCC AGCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGTGATCTACTTTGGG CATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAG CTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACCTGGCCAGCC TGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGTTCTT CAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG02717.hp2 HG01884.hp2 HG02717.hp2	a0055 a0078 a0055 a0078	a0055c0096 a0078c0095 a0055c0096 a0078c0095	a0055c0096t0001 a0078c0095t0001 a0055c0096t0001 a0078c0095t0001	a0055c0096t0001g0255 a0078c0095t0001g0254 a0055c0096t0001g0255 a0078c0095t0001g0254	2	348	0.0057	495	c.951 others(504): Show c.9512_9513insGAAGGTGGAGGCCGACGTGAGCCTCCCCTCCATGCA GGGGGACCTGAAGAACACTGACATCAGCATTGAGCCCCCCTCTGCCCAAC TGGAGGTCCAGGCTGGCCAGGTGGACGTGAAGCTCCCAGAGGGCCACGTT CTCGAGGGAGCTGGCCTCAAAGGGCACCTGCCCAAGTTGCAGATGCCCAG TTTCAAGATGCCCAAAGTAGATCACAAGGGCCCCCAGATAGACATCAAGG GCCCCAAGCTGGACCTGAAAGGCCCGAAGACGGACGTGACGGCCCCCGAC GTGGAGGTGTCTCAGCCCGGCATGGAGGTGGATGTCGAGGCCCCAGGAGC CAAGTTGGATGGTGCACGGCTGGAGGGGGACCTGTCCCTGGCCGACAAGG ATGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCG TCGTTCGGGGTGTCTGCCCCAGGCAAGTCCATTGAGGTCTTGGTGGATGT GTCTGCGCC	p.Pro others(510): Show p.Pro3171_Lys3172insLysValGluAlaAspValSerLeuProSer MetGlnGlyAspLeuLysAsnThrAspIleSerIleGluProProSerAl aGlnLeuGluValGlnAlaGlyGlnValAspValLysLeuProGluGlyH isValLeuGluGlyAlaGlyLeuLysGlyHisLeuProLysLeuGlnMet ProSerPheLysMetProLysValAspHisLysGlyProGlnIleAspIl eLysGlyProLysLeuAspLeuLysGlyProLysThrAspValThrAlaP roAspValGluValSerGlnProGlyMetGluValAspValGluAlaPro GlyAlaLysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAs pLysAspValThrAlaLysAspSerLysPheLysMetProLysPheLysM etProSerPheGlyValSerAlaProGlyLysSerIleGluValLeuVal AspValSerAlaPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9649/18335	9512/17388	3171/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946012	T T	TGGGCATT others(488): Show TGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGG GACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTGGCTCCTGGGGCCTC GACATCCACCTCCATGCTGGGCTGAGACACCTCCACGTCGGGGGCCGTCA CGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGATGTCTATC TGGGGGCCCTTGTGATCTACTTTGGGCATCTTGAAACTGGGCATCTGCAA CTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTG GGAGCTTCACGTCCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGG GGCTCAATGCTGATGTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAG GCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACCAAGACCTCAA TGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02922.hp2 HG02922.hp2	a0082 a0082	a0082c0047 a0082c0047	a0082c0047t0001 a0082c0047t0001	a0082c0047t0001g0077 a0082c0047t0001g0077	1	354	0.0028	495	c.943 others(504): Show c.9438_9439insGAGTTCAAGATGCCGTCGTTCGGGGTGTCTGCCCCA GGCAAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCCGAAGGTGGAGGC CGACGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGAACACTGACATCA GCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCAGGTGGAC GTGAAGCTCCCAGAGGGCCACGTTCTCGAGGGAGCTGGCCTCAAAGGGCA CCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTAGATCACA AGGGCCCCCAGATAGACATCAAGGGCCCCAAGCTGGACCTGAAAGGCCCG AAGACGGACGTGACGGCCCCCGACGTGGAGGTGTCTCAGCCCAGCATGGA GGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGATGGTGCACGGCTGGAGG GGGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAGCAAGTTC AAAATGCCC	p.Pro others(510): Show p.Pro3146_Lys3147insGluPheLysMetProSerPheGlyValSer AlaProGlyLysSerIleGluValLeuValAspValSerAlaProLysVa lGluAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAsnThrA spIleSerIleGluProProSerAlaGlnLeuGluValGlnAlaGlyGln ValAspValLysLeuProGluGlyHisValLeuGluGlyAlaGlyLeuLy sGlyHisLeuProLysLeuGlnMetProSerPheLysMetProLysValA spHisLysGlyProGlnIleAspIleLysGlyProLysLeuAspLeuLys GlyProLysThrAspValThrAlaProAspValGluValSerGlnProSe rMetGluValAspValGluAlaProGlyAlaLysLeuAspGlyAlaArgL euGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAspSer LysPheLysMetPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9575/18335	9438/17388	3146/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948349	C C	CGCTGAGG others(488): Show CGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACG TCGGCCTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTT GCCAAGGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGA ACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCC TCCAGCCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTC CACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGG GGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTG AGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTG CCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGT CCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0070 a0076 a0070 a0076	a0070c0045 a0076c0046 a0070c0045 a0076c0046	a0070c0045t0003 a0076c0046t0003 a0070c0045t0003 a0076c0046t0003	a0070c0045t0003g0130 a0076c0046t0003g0110 a0070c0045t0003g0130 a0076c0046t0003g0110	2	347	0.0058	495	c.660 others(504): Show c.6607_7101dupATTCAGCCCCTTTCCGCCGACGTGAAGGTCCAGGCT GGCCAGGTGGACGTGAAACTCCTGGAGGGCCCTGTGCCCGAGGAAGTCGG CCTCAAAGGGCACCTGCCCAAGCTGCAGATGCCCAGTTTCAAGGTGCCCA AAGTGGACCTCAAGGGCCCCGAAATAGACATCAAGGGCCCCAAGCTGGAC CTAAAAGACCCCAAGGTGGAAGTGACAGCCCCTGATGTGGAGGTGTCTCT GCCCAGCGTGGAGGTGGACGTCAAGGCCCCAGGAGCCAAGCTGGATGGTG CGCGGCTGGAGGGGGACATGTCCCTGGCCGACAAGGACGTGACTGCCAAA GACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCTGTCGTTTGGGGTGTC TGCCCTTGGCAAGTCCATCGAGGCCTCAGCGGATGTGTCTGCGTTGAAGG TGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTCAAGACCACT GACCTCAGC	p.Ser others(510): Show p.Ser2367_Val2368insIleGlnProLeuSerAlaAspValLysVal GlnAlaGlyGlnValAspValLysLeuLeuGluGlyProValProGluGl uValGlyLeuLysGlyHisLeuProLysLeuGlnMetProSerPheLysV alProLysValAspLeuLysGlyProGluIleAspIleLysGlyProLys LeuAspLeuLysAspProLysValGluValThrAlaProAspValGluVa lSerLeuProSerValGluValAspValLysAlaProGlyAlaLysLeuA spGlyAlaArgLeuGluGlyAspMetSerLeuAlaAspLysAspValThr AlaLysAspSerLysPheLysMetProLysPheLysMetLeuSerPheGl yValSerAlaLeuGlyLysSerIleGluAlaSerAlaAspValSerAlaL euLysValGluAlaAspValSerLeuProSerMetGlnGlyAspLeuLys ThrThrAspLeuSer	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7238/18335	7101/17388	2367/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948485	C C	CTTGGGCA others(488): Show CTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCACGTCCTTGTTGGCCA GGGTCAGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCC TGGACATCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCT CACTTCCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCA CCTGGGGGCCCTTGAGGTCCACTTCGGGCATCTTCAAACTGGGCATCTCC ACCTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGGCACCTGGCCCTC CGGGAGCTTCACATCCACCTGGCCAGTCTGGACCTTCAGGTCGGCAGAAG GGGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGG AGACTCACGTCGGCCTCCACCTTGGGTGCAGGCACATCCACCGAGGCCTC GATGGACCTCCCTGGGGCCGATACCCCGAACGACGGCATCTTGAAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp1 HG02257.hp1	a0063 a0063	a0063c0111 a0063c0111	a0063c0111t0002 a0063c0111t0002	a0063c0111t0002g0137 a0063c0111t0002g0137	1	354	0.0028	495	c.696 others(504): Show c.6965_6966insATTCAAGATGCCGTCGTTCGGGGTATCGGCCCCAGG GAGGTCCATCGAGGCCTCGGTGGATGTGCCTGCACCCAAGGTGGAGGCCG ACGTGAGTCTCCCCTCCATGCAGGGGGACCTGAAGACCACTGACCTCAGC ATTCAGCCCCCTTCTGCCGACCTGAAGGTCCAGACTGGCCAGGTGGATGT GAAGCTCCCGGAGGGCCAGGTGCCCGAGGGAGCTGGCCTCAAAGGGCACC TGCCCAAGGTGGAGATGCCCAGTTTGAAGATGCCCGAAGTGGACCTCAAG GGCCCCCAGGTGGACATCAAGGGCCCCAAACTGGACCTAAAAGACCCCAA GGTGGAAGTGAGAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCATGGAGG TGGATGTCCAGGCCCCAAGAGCCAAGCTGGATAGTGCGCATCTGCAGGGG GACCTGACCCTGGCCAACAAGGACGTGACTACCAAAGACAGCAAGTTCAA AATGCCCAA	p.Lys others(510): Show p.Lys2322_Phe2323insPheLysMetProSerPheGlyValSerAla ProGlyArgSerIleGluAlaSerValAspValProAlaProLysValGl uAlaAspValSerLeuProSerMetGlnGlyAspLeuLysThrThrAspL euSerIleGlnProProSerAlaAspLeuLysValGlnThrGlyGlnVal AspValLysLeuProGluGlyGlnValProGluGlyAlaGlyLeuLysGl yHisLeuProLysValGluMetProSerLeuLysMetProGluValAspL euLysGlyProGlnValAspIleLysGlyProLysLeuAspLeuLysAsp ProLysValGluValArgValProAspValGluValSerLeuProSerMe tGluValAspValGlnAlaProArgAlaLysLeuAspSerAlaHisLeuG lnGlyAspLeuThrLeuAlaAsnLysAspValThrThrLysAspSerLys PheLysMetProLys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7102/18335	6965/17388	2322/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949958	C C	CGGCATCT others(488): Show CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACAT CCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAGCTTG GCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCAC GTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGC CCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCAAA CTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGG AAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCCA GGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCC TGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACATC CACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	343	0.0029	495	c.499 others(504): Show c.4998_5492dupATCATTTGGGGTGTCGGCCCCAGGCAAGTCCATCGA GGCCTCGGTGGATGTGTCTGAGCCGAAGGTGGAAGCTGATGTGAGCCTCC CCTCCATGCAGGGGGACCTGAAGACCACTGACCTCAGCATTCAGTCCCCT TCCGCCGACCTGGAGGTCCAGGCTGGCCAAGTGAACGTGAAACTCCCGGA GGGCCCCCTTCCCGAGGGAGCCGGCTTCAAAGGGCACCTCCCCAAGGTGC AGATGCCCAGTTTGAAGATGCCCAAAGTGGCCCTCAAGGGCCCCCAGATG GACGTCAAGGGCCCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAGGTGAT GGCCCCCGACGTGGAGGTGTCTCTGCCCAGCGTGGAGGTGGACGTCGAGG CTCCAGGAGCCAAGCTGGACAGTGTGCGGCTGGAGGGTGACCTGTCCCTG GCCGACAAGGATGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAGTT CAAGATGCC	p.Pro others(510): Show p.Pro1831_Ser1832insSerPheGlyValSerAlaProGlyLysSer IleGluAlaSerValAspValSerGluProLysValGluAlaAspValSe rLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSerIleGlnS erProSerAlaAspLeuGluValGlnAlaGlyGlnValAsnValLysLeu ProGluGlyProLeuProGluGlyAlaGlyPheLysGlyHisLeuProLy sValGlnMetProSerLeuLysMetProLysValAlaLeuLysGlyProG lnMetAspValLysGlyProLysLeuAspLeuLysGlyProLysAlaGlu ValMetAlaProAspValGluValSerLeuProSerValGluValAspVa lGluAlaProGlyAlaLysLeuAspSerValArgLeuGluGlyAspLeuS erLeuAlaAspLysAspValThrAlaLysAspSerLysPheLysMetPro LysPheLysMetPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5629/18335	5492/17388	1831/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950686	C C	CTTCAGGC others(488): Show CTTCAGGCATCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTG AGGCCGGCTCCCTCGGGAACGTGGCCCTCTGGGAGTTTCACATCCACCTG GCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTGAATGCTGATGTCAG TGGTCTTAAGGTCCCCTTGCATGGAGGGGAGGCTCATGTCGGCTTCCACC TTCAGCTCAGACACATCCACCAACGCCTCGATAGACTCGCCTGGGGCCGA CACCCTGAATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTATCTT TGGCTGTCACACCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGCGCA CCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAG AGACATCTCCACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGT CCAGCTTGGGGCCCTTGACATCTAGCTGGGGGCCCTTGAGGTCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	495	c.476 others(504): Show c.4764_4765insATGGACCTCAAGGGCCCCCAGCTAGATGTCAAGGGC CCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAAGTGACAGCCCCCGATGT GGAGATGTCTCTGTCCAGCATGGAGGTGGACGTCCAGGCCCCGAGAGCAA AGCTGGATGGTGCGCGGCTGGAGGGGGACCTGTCCCTGGCCGACAAGGGT GTGACAGCCAAAGATAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCATC ATTCAGGGTGTCGGCCCCAGGCGAGTCTATCGAGGCGTTGGTGGATGTGT CTGAGCTGAAGGTGGAAGCCGACATGAGCCTCCCCTCCATGCAAGGGGAC CTTAAGACCACTGACATCAGCATTCAGCCCCCCTCTGCCCAACTGGAGGT CCAGGCTGGCCAGGTGGATGTGAAACTCCCAGAGGGCCACGTTCCCGAGG GAGCCGGCCTCAAAGGGCACCTGCCCAAGCTGCAGATGCCCAGTTTCAAG ATGCCTGAA	p.Lys others(510): Show p.Lys1588_Val1589insMetAspLeuLysGlyProGlnLeuAspVal LysGlyProLysLeuAspLeuLysGlyProLysAlaGluValThrAlaPr oAspValGluMetSerLeuSerSerMetGluValAspValGlnAlaProA rgAlaLysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAsp LysGlyValThrAlaLysAspSerLysPheLysMetProLysPheLysMe tProSerPheArgValSerAlaProGlyGluSerIleGluAlaLeuValA spValSerGluLeuLysValGluAlaAspMetSerLeuProSerMetGln GlyAspLeuLysThrThrAspIleSerIleGlnProProSerAlaGlnLe uGluValGlnAlaGlyGlnValAspValLysLeuProGluGlyHisValP roGluGlyAlaGlyLeuLysGlyHisLeuProLysLeuGlnMetProSer PheLysMetProGlu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4901/18335	4764/17388	1588/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950839	C C	CCTTGAGG others(488): Show CCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTC GGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCCGACAC CCCAAATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCACCGCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCA TCCAGCTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGA CATCTTCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCA GCTTGGGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGC ATCTTGAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGC TCCCTCGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCT GGACCTCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	340	0.0029	495	c.461 others(504): Show c.4611_4612insACCACTGACCTGAGCATACAGCCCCCTTCTGCTGAC CTGGAGGTCCAGGCTGGCCAAGTGGACGTGAAACTCCCAGAGGGCCCTGT GTCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAAGTGCAGATGCCCA GTTTCAAGATGCCCAAAGTGGACCTCAAGGGGCCCCAGATAGATGTTAAG GGCCCCAAGCTGGACCTGAAAGGCCCCAAGGTGGAAGTGACAGCCCCCGA TGTGAAGATGTCTCTGTCCAGCATGGAGGTGGACGTCCAGGCCCCGAGAG CAAAGCTGGATGGTGCGCAGCTGGAGGGGGACCTGTCCCTGGCCGACAAG GCGGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCC ATCATTTGGGGTGTCGGCCCCAGGCAAGTCCATCGAGGCCTCAGTGGATG TGTCTGCGCCGAAGGTGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGG GACCTCAAG	p.Lys others(510): Show p.Lys1537_Ala1538insThrThrAspLeuSerIleGlnProProSer AlaAspLeuGluValGlnAlaGlyGlnValAspValLysLeuProGluGl yProValSerGluGlyAlaGlyLeuLysGlyHisLeuProLysValGlnM etProSerPheLysMetProLysValAspLeuLysGlyProGlnIleAsp ValLysGlyProLysLeuAspLeuLysGlyProLysValGluValThrAl aProAspValLysMetSerLeuSerSerMetGluValAspValGlnAlaP roArgAlaLysLeuAspGlyAlaGlnLeuGluGlyAspLeuSerLeuAla AspLysAlaValThrAlaLysAspSerLysPheLysMetProLysPheLy sMetProSerPheGlyValSerAlaProGlyLysSerIleGluAlaSerV alAspValSerAlaProLysValGluAlaAspValSerLeuProSerMet GlnGlyAspLeuLys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4748/18335	4611/17388	1537/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950949	G G	GGCATCTT others(488): Show GGCATCTTGAACTTGGGAATTTTGAACCTGCTGTCTTTGGTAGTCACATC CTTGTCCGCCACAGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGG CTCCCGGGGCCTCGACATCCACCTCCACGCTGGGCTGAGACACCTCCACG TCGGGGGCCATCACGTCCGTCTTGGGGCCTTTCAGGTCCAGCTTGGGGCC CTTGACATCTATCTGGGGGCCCTTGAGATCTACTTTGGGCATCTTGAAAC TGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCCGGC ACGGGGCCCTCTGAGAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAG GTCAGCGGAAGGGGGCTGAACGCTGAGGTCAGTGGTCTTGAGGTCCCCCT GCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTCAACGCAGACACATCC GCTGAGGCCTCGATGGACTTGCCAGGGGCAGACACCCCAAACGAGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	340	0.0029	495	c.450 others(504): Show c.4501_4502insTCTCGTTTGGGGTGTCTGCCCCTGGCAAGTCCATCG AGGCCTCAGCGGATGTGTCTGCGTTGAAGGTGGAGGCCGACGTGAGCCTC CCCTCCATGCAGGGGGACCTCAAGACCACTGACCTCAGCGTTCAGCCCCC TTCCGCTGACCTGGAGGTCCAGGCTGGCCAAGTGGATGTGAAACTCTCAG AGGGCCCCGTGCCGGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAGCTG CAGATGCCCAGTTTCAAGATGCCCAAAGTAGATCTCAAGGGCCCCCAGAT AGATGTCAAGGGCCCCAAGCTGGACCTGAAAGGCCCCAAGACGGACGTGA TGGCCCCCGACGTGGAGGTGTCTCAGCCCAGCGTGGAGGTGGATGTCGAG GCCCCGGGAGCCAAGCTGGATGGTGCGTGGCTGGAGGGGGACCTGTCTGT GGCGGACAAGGATGTGACTACCAAAGACAGCAGGTTCAAAATTCCCAAGT TCAAGATGC	p.Met others(510): Show p.Met1500_Pro1501insLeuSerPheGlyValSerAlaProGlyLys SerIleGluAlaSerAlaAspValSerAlaLeuLysValGluAlaAspVa lSerLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSerValG lnProProSerAlaAspLeuGluValGlnAlaGlyGlnValAspValLys LeuSerGluGlyProValProGluGlyAlaGlyLeuLysGlyHisLeuPr oLysLeuGlnMetProSerPheLysMetProLysValAspLeuLysGlyP roGlnIleAspValLysGlyProLysLeuAspLeuLysGlyProLysThr AspValMetAlaProAspValGluValSerGlnProSerValGluValAs pValGluAlaProGlyAlaLysLeuAspGlyAlaTrpLeuGluGlyAspL euSerValAlaAspLysAspValThrThrLysAspSerArgPheLysIle ProLysPheLysMet	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4638/18335	4501/17388	1501/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951386	T T	TGGAGACA others(488): Show TGGAGACACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCC CGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCA GTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATC CAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACA CCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGC TTGGCGCCCTTAACATCCGTCTGGGGGCCCTTGAGGTCCACTTTGGGCAT CTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTC CCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGG ACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAG GTCCCCCTGCATGGAGGGGAGGCTCACATCGGCCTCCACCTTCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	495	c.406 others(504): Show c.4064_4065insGCCGAAGGTGGAGGCCGATGTGAGCCTCCCCTCCAT GCAGGGGGACCTCAAGACCACGGACCTCTGCATTCCGCTCCCTTCTGCAG ACCTGGTGGTCCAGGCTGGCCAAGTGGACATGAAGCTCCCGGAGGGCCAG GTGCCCGAGGGAGCCGGCCTCAAAGGGCACTTGCCCAAGGTGGATATGCC CAGTTTCAAGATGCCCAAAGTGGACCTCAAGGGCCCCCAGACGGATGTTA AGGGCGCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAAGTGACAGCCCCC GATGTCGAGGTGTCTCTGCCCAGCATGGAGGTGGATGTCCAGGCCCAGAA GGCTAAGCTGGATGGTGCGCGGCTGGAGGGAGACCTGTCCCTGGCCGACA AGGACATGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAATTCAAGATG CCGTCGTTCGGGGTATCGGCCCCAGGGAGGTCCATCGAGGCCTCGGTGGA TGTGTCTCC	p.Ala others(510): Show p.Ala1355_Pro1356insProLysValGluAlaAspValSerLeuPro SerMetGlnGlyAspLeuLysThrThrAspLeuCysIleProLeuProSe rAlaAspLeuValValGlnAlaGlyGlnValAspMetLysLeuProGluG lyGlnValProGluGlyAlaGlyLeuLysGlyHisLeuProLysValAsp MetProSerPheLysMetProLysValAspLeuLysGlyProGlnThrAs pValLysGlyAlaLysLeuAspLeuLysGlyProLysAlaGluValThrA laProAspValGluValSerLeuProSerMetGluValAspValGlnAla GlnLysAlaLysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAl aAspLysAspMetThrAlaLysAspSerLysPheLysMetProLysPheL ysMetProSerPheGlyValSerAlaProGlyArgSerIleGluAlaSer ValAspValSerPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4201/18335	4064/17388	1355/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951742	G G	GAAGGGGG others(488): Show GAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCC AGGTCAGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCC CTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACAT CCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGC ATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTT GTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTC TCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCG GGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTT AACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGG GCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	495	c.370 others(504): Show c.3708_3709insTCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAA GTGCAGATGCCCAGTTTCAAGATGCCCAAAGTGGACCTCAAGGGGCCCCA GATAGATGTTAAGGGCCCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAAG TGACAGCCCCCGATGTGAAGATGTCTCTGTCCAGCATGGAGGTGGACGTC CAGGCCCCGAGAGCAAAGCTGGATGGTGCGCAGCTGGAGGGGGACCTGTC CCTGGCCGACAAGGCGGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCA AGTTCAAGATGCCATCATTTGGGGTGTCGGCCCCAGGCAAGTCCATCGAG GCCTCGGTGGATGTGTCTGAGCCGAAGGTGGAAGCTGATGTGAGCCTCCC CTCCATGCAGGGGGACCTCAAGACCACTGACCTCAGCATTCAGTCCCCTT CCGCTGACCTGGAGGTCCAGGCTGGCCAAGTGAACGTGAAACTCCCGGAG GGCCCCCTT	p.Val others(510): Show p.Val1236_Pro1237insSerGluGlyAlaGlyLeuLysGlyHisLeu ProLysValGlnMetProSerPheLysMetProLysValAspLeuLysGl yProGlnIleAspValLysGlyProLysLeuAspLeuLysGlyProLysA laGluValThrAlaProAspValLysMetSerLeuSerSerMetGluVal AspValGlnAlaProArgAlaLysLeuAspGlyAlaGlnLeuGluGlyAs pLeuSerLeuAlaAspLysAlaValThrAlaLysAspSerLysPheLysM etProLysPheLysMetProSerPheGlyValSerAlaProGlyLysSer IleGluAlaSerValAspValSerGluProLysValGluAlaAspValSe rLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSerIleGlnS erProSerAlaAspLeuGluValGlnAlaGlyGlnValAsnValLysLeu ProGluGlyProLeu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3845/18335	3708/17388	1236/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952121	C C	CAGGTCCA others(488): Show CAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGATGTCCA CTTTGGGCATCTTGAAACTGGGCATCTGCACCTTGGGCAGGTGCCCTTTG AGGCCGGCTCCCTCGGGAACGTGGCCCTCCAGGAGTTTCACGTCCACCTG GCCAGCCTGGACCTTCAGGTCGGTGGAAGGGGGCTGAATGCTGAGGTCAG TGGCCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACT TTGGGTGCAGACACATCCACCATGGCCTCGATGGACTTGCCTGGGGCAGA CACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTT TGGCAGTCACATCCTTGTCGGCCAAGGACAGGTCCCCCTCCAACTGTGCA CTATCCAGCTTGGCTCTCCGAGCCTGGACGTCCACCTCGACGCTGGGCAG AGACACCTCGACATCGGGGACTCTCACTTCCACCTTGGGGTCTTTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp1 NA19030.hp1	a0110 a0110	a0110c0048 a0110c0048	a0110c0048t0002 a0110c0048t0002	a0110c0048t0002g0256 a0110c0048t0002g0256	1	335	0.0030	495	c.332 others(504): Show c.3329_3330insAAAAGACCCCAAGGTGGAAGTGAGAGTCCCCGATGT CGAGGTGTCTCTGCCCAGCGTCGAGGTGGACGTCCAGGCTCGGAGAGCCA AGCTGGATAGTGCACAGTTGGAGGGGGACCTGTCCTTGGCCGACAAGGAT GTGACTGCCAAAGACAGCAGGTTCAAAATGCCCAAGTTCAAGATGCCGTC GTTTGGGGTGTCTGCCCCAGGCAAGTCCATCGAGGCCATGGTGGATGTGT CTGCACCCAAAGTGGAGGCCGACGTGAGTCTCCCCTCCATGCAGGGGGAC CTGAAGGCCACTGACCTCAGCATTCAGCCCCCTTCCACCGACCTGAAGGT CCAGGCTGGCCAGGTGGACGTGAAACTCCTGGAGGGCCACGTTCCCGAGG GAGCCGGCCTCAAAGGGCACCTGCCCAAGGTGCAGATGCCCAGTTTCAAG ATGCCCAAAGTGGACATCAAGGGCCCCCAGGTGGACATCAAGGGCCCCAA GCTGGACCT	p.Leu others(510): Show p.Leu1110_Lys1111insLysAspProLysValGluValArgValPro AspValGluValSerLeuProSerValGluValAspValGlnAlaArgAr gAlaLysLeuAspSerAlaGlnLeuGluGlyAspLeuSerLeuAlaAspL ysAspValThrAlaLysAspSerArgPheLysMetProLysPheLysMet ProSerPheGlyValSerAlaProGlyLysSerIleGluAlaMetValAs pValSerAlaProLysValGluAlaAspValSerLeuProSerMetGlnG lyAspLeuLysAlaThrAspLeuSerIleGlnProProSerThrAspLeu LysValGlnAlaGlyGlnValAspValLysLeuLeuGluGlyHisValPr oGluGlyAlaGlyLeuLysGlyHisLeuProLysValGlnMetProSerP heLysMetProLysValAspIleLysGlyProGlnValAspIleLysGly ProLysLeuAspLeu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3466/18335	3329/17388	1110/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952144	C C	CGTCCACC others(488): Show CGTCCACCTGGGGGCCCTTGATGTCCACTTTGGGCATCTTGAAACTGGGC ATCTGCACCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGAACGTG GCCCTCCAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCAGGTCGG TGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTCAGGTCCCCCTGCATG GAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCAT GGCCTCGATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGA ACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCC AAGGACAGGTCCCCCTCCAACTGTGCACTATCCAGCTTGGCTCTCCGAGC CTGGACGTCCACCTCGACGCTGGGCAGAGACACCTCGACATCGGGGACTC TCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(68): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01884.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1	a0003 a0004 a0006 others(25): Show a0003 a0004 a0006 a0010 a0012 a0017 a0020 a0027 a0028 a0041 a0047 a0048 a0055 a0063 a0066 a0071 a0077 a0081 a0088 a0090 a0091 a0098 a0100 a0104 a0105 a0108 a0109 a0111	a0003c0004 a0003c0119 a0004c0006 others(30): Show a0003c0004 a0003c0119 a0004c0006 a0006c0007 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0017c0013 a0020c0032 a0020c0110 a0027c0034 a0028c0118 a0028c0120 a0041c0053 a0047c0094 a0048c0112 a0055c0096 a0063c0111 a0066c0107 a0071c0148 a0077c0105 a0081c0124 a0088c0104 a0090c0098 a0091c0126 a0098c0100 a0100c0093 a0104c0149 a0105c0115 a0108c0116 a0109c0117 a0111c0052	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(31): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0006c0007t0002 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0017c0013t0002 a0020c0032t0002 a0020c0110t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0041c0053t0002 a0047c0094t0013 a0048c0112t0002 a0055c0096t0001 a0063c0111t0002 a0066c0107t0002 a0071c0148t0002 a0077c0105t0002 a0081c0124t0002 a0088c0104t0002 a0090c0098t0002 a0091c0126t0002 a0098c0100t0001 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0108c0116t0001 a0109c0117t0005 a0111c0052t0002	a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(56): Show a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0041c0053t0002g0147 a0047c0094t0013g0123 a0048c0112t0002g0151 a0055c0096t0001g0255 a0063c0111t0002g0137 a0066c0107t0002g0174 a0071c0148t0002g0083 a0077c0105t0002g0133 a0081c0124t0002g0246 a0088c0104t0002g0215 a0090c0098t0002g0203 a0091c0126t0002g0196 a0098c0100t0001g0217 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0108c0116t0001g0152 a0109c0117t0005g0167 a0111c0052t0002g0146	71	334	0.2126	495	c.330 others(504): Show c.3306_3307insATCAAGGGCCCCAAGCTGGACCTAAAAGACCCCAAG GTGGAAGTGAGAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCGTCGAGGT GGACGTCCAGGCTCGGAGAGCCAAGCTGGATAGTGCACAGTTGGAGGGGG ACCTGTCCTTGGCCGACAAGGATGTGACTGCCAAAGACAGCAGGTTCAAA ATGCCCAAGTTCAAGATGCCGTCGTTTGGGGTGTCTGCCCCAGGCAAGTC CATCGAGGCCATGGTGGATGTGTCTGCACCCAAAGTGGAGGCCGACGTGA GTCTCCCCTCCATGCAGGGGGACCTGAAGGCCACTGACCTCAGCATTCAG CCCCCTTCCACCGACCTGAAGGTCCAGGCTGGCCAGGTGGACGTGAAACT CCTGGAGGGCCACGTTCCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCA AGGTGCAGATGCCCAGTTTCAAGATGCCCAAAGTGGACATCAAGGGCCCC CAGGTGGAC	p.Asp others(510): Show p.Asp1102_Val1103insIleLysGlyProLysLeuAspLeuLysAsp ProLysValGluValArgValProAspValGluValSerLeuProSerVa lGluValAspValGlnAlaArgArgAlaLysLeuAspSerAlaGlnLeuG luGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAspSerArg PheLysMetProLysPheLysMetProSerPheGlyValSerAlaProGl yLysSerIleGluAlaMetValAspValSerAlaProLysValGluAlaA spValSerLeuProSerMetGlnGlyAspLeuLysAlaThrAspLeuSer IleGlnProProSerThrAspLeuLysValGlnAlaGlyGlnValAspVa lLysLeuLeuGluGlyHisValProGluGlyAlaGlyLeuLysGlyHisL euProLysValGlnMetProSerPheLysMetProLysValAspIleLys GlyProGlnValAsp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3443/18335	3306/17388	1102/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952184	G G	GAAACTGG others(488): Show GAAACTGGGCATCTGCACCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCT CGGGAACGTGGCCCTCCAGGAGTTTCACGTCCACCTGGCCAGCCTGGACC TTCAGGTCGGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTCAGGTC CCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACA CATCCACCATGGCCTCGATGGACTTGCCTGGGGCAGACACCCCAAACGAC GGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATC CTTGTCGGCCAAGGACAGGTCCCCCTCCAACTGTGCACTATCCAGCTTGG CTCTCCGAGCCTGGACGTCCACCTCGACGCTGGGCAGAGACACCTCGACA TCGGGGACTCTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCC CTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18995.hp1 NA18995.hp1	a0106 a0106	a0106c0114 a0106c0114	a0106c0114t0001 a0106c0114t0001	a0106c0114t0001g0176 a0106c0114t0001g0176	1	308	0.0032	495	c.326 others(504): Show c.3266_3267insGAAGATGCCCAAAGTGGACCTCAAGGGCCCCCAGGT GGACATCAAGGGCCCCAAGCTGGACCTAAAAGACCCCAAGGTGGAAGTGA GAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCGTCGAGGTGGACGTCCAG GCTCGGAGAGCCAAGCTGGATAGTGCACAGTTGGAGGGGGACCTGTCCTT GGCCGACAAGGATGTGACTGCCAAAGACAGCAGGTTCAAAATGCCCAAGT TCAAGATGCCGTCGTTTGGGGTGTCTGCCCCAGGCAAGTCCATCGAGGCC ATGGTGGATGTGTCTGCACCCAAAGTGGAGGCCGACGTGAGTCTCCCCTC CATGCAGGGGGACCTGAAGGCCACTGACCTCAGCATTCAGCCCCCTTCCA CCGACCTGAAGGTCCAGGCTGGCCAGGTGGACGTGAAACTCCTGGAGGGC CACGTTCCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAGGTGCAGAT GCCCAGTTT	p.Ser others(510): Show p.Ser1088_Phe1089insLeuLysMetProLysValAspLeuLysGly ProGlnValAspIleLysGlyProLysLeuAspLeuLysAspProLysVa lGluValArgValProAspValGluValSerLeuProSerValGluValA spValGlnAlaArgArgAlaLysLeuAspSerAlaGlnLeuGluGlyAsp LeuSerLeuAlaAspLysAspValThrAlaLysAspSerArgPheLysMe tProLysPheLysMetProSerPheGlyValSerAlaProGlyLysSerI leGluAlaMetValAspValSerAlaProLysValGluAlaAspValSer LeuProSerMetGlnGlyAspLeuLysAlaThrAspLeuSerIleGlnPr oProSerThrAspLeuLysValGlnAlaGlyGlnValAspValLysLeuL euGluGlyHisValProGluGlyAlaGlyLeuLysGlyHisLeuProLys ValGlnMetProSer	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3403/18335	3266/17388	1089/5795			chr14	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(488): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGG AGGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGGGAGGGGGGGAGGA GGAGGGGGAGGGGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGGGGGAGG AGGGGGAGGGGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGG GAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 HG02280.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0046 a0001c0001t0014 a0001c0001t0046	a0001c0001t0014g0025 a0001c0001t0046g0278 a0001c0001t0014g0025 a0001c0001t0046g0278	2	184	0.0109	495	c.125 others(516): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCCTCC TCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCCCCTCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCCTCCCCCTCCCCCTCCTCCCCCCCCCTCCCCCTCCCCCTCCC CCCCTCCCCCCCCTCCCCCTCCTCCTCCCCCCCTCCCCCCCTCCCCCCCT CCTCCCCCCCTCCTCCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCC CCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTC CTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCT CCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTC CCCTCCCCTCCCCTCCTCCCC		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(488): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGGTGGGAGGG GAGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGT GGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAA GGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAG GGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGG GGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	137	0.0073	495	c.248 others(510): Show c.2483+67_2483+68insCCCCTCCCCCTCCCCTCGCCTCCCCCTCCC CCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCC TCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCC CTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCC TCCCACCCTCCCCCTCCCCTCCCACCCCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATC CACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCC ACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCC CTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCT CCTCCCCCTCCCCTC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
AP2A2_chr11_920870_1017240	980298	C C	CTGCCCGG others(488): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	152	0.0066	495	c.604 others(510): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG GTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGG		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980298	C C	CTGCCCGG others(488): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18962.hp1 HG03492.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0001t0001g0024 a0001c0001t0001g0081	2	153	0.0131	495	c.604 others(510): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG GTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGG		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144687082	C C	CCACCCCT others(488): Show CCACCCCTGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCA CGCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGTGA GCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCG TGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGC GGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCA CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGCGAGCA CTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGA CCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACTAGCGG TGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	238	0.0042	495	c.-14 others(506): Show c.-1479_-1478insAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGT GGGAAGTGCTCACCGCTAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCC GCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCA CGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACAGGGGTGGGAAGTG CTCGCCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAGTGC GTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGG GAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCC AGTGTGTGGTCACGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTC GCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGG TCACAGGGGTG		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding					1237		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687082	C C	CCACCCCT others(488): Show CCACCCCTGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCA CGCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGTGA GCACTTCTCACCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCG TGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGC GGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCA CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGCGAGCA CTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGA CCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACTAGCGG TGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	238	0.0042	495	c.-14 others(506): Show c.-1479_-1478insAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGT GGGAAGTGCTCACCGCTAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCC GCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCA CGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACAGGGGTGGGAAGTG CTCGCCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAGTGC GTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGG GAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCC AGTGTGTGGTCACGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGG GGTGAGAAGTGCTCACCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTC GCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGG TCACAGGGGTG		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding					1237		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(488): Show GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCA CTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCC CTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTT CCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCTGTGACC ACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	146	0.0068	495	c.-18 others(506): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGTTCACTGTAAATGTGTGG TCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGT GTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGG TGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCA CGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCAC		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding					1616		chr8	TogoVar
ARHGAP45_chr19_1062167_1091628	1063162	G G	GCTCCACC others(488): Show GCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACCAGT GTGGCCCCGCCCCATACTCATGCTGTCTCCACCCACACCATGGCCCCGCC CCATACTCATGCTGGCTCCACCCACACTATGGCCCTGCCCCATACTCATG CTGGCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACC AGTGTGGCCCCGCCCCATACTCATGCTGTCTCCACCCACACCATGGCCCC GCCCCATACTCATGCTGGCTCCACCAGTGTGGCCCCGCCCCATACTCATG CTGTCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACC CACACTATGGCCCTGCCCCATACTCATGCTGGCTCCACCCACACCATGGC CCCGCCCCATACTCATGCTGGCTCCACCCACACCATGGCCCCGCCCCATA CTCATGCTGGCTCCACCAGTGTGGCCCCGCCCCATACTCATGCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0248 a0003c0003t0002g0248	1	388	0.0026	495	c.-42 others(506): Show c.-4244_-4243insCTCCACCCACACCATGGCCCCGCCCCATACTCAT GCTGGCTCCACCAGTGTGGCCCCGCCCCATACTCATGCTGTCTCCACCCA CACCATGGCCCCGCCCCATACTCATGCTGGCTCCACCCACACTATGGCCC TGCCCCATACTCATGCTGGCTCCACCCACACCATGGCCCCGCCCCATACT CATGCTGGCTCCACCAGTGTGGCCCCGCCCCATACTCATGCTGTCTCCAC CCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACCAGTGTGGCCC CGCCCCATACTCATGCTGTCTCCACCCACACCATGGCCCCGCCCCATACT CATGCTGGCTCCACCCACACTATGGCCCTGCCCCATACTCATGCTGGCTC CACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACCCACACCA TGGCCCCGCCCCATACTCATGCTGGCTCCACCAGTGTGGCCCCGCCCCAT ACTCATGCTGT		ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding					4004		chr19	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(488): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCC AGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTC CCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCA CCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCT CCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTC CACTCCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCCACCCC TGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCT TCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0028 a0001c0002t0012g0028	1	2	0.5000	495	c.39+ others(512): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCC ACCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCT GGCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTT CCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGC TGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCC CAGCCTCCCTTCCACTCCCCCCCACCCCTGATCCCACACCTCCCTTTCAC TCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGT CCCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCA CTCCCCCTACCCCTGAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(488): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCAGGGTCAGAGCAGAGGCGGA GGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0101 a0001c0004t0003g0101	1	76	0.0132	495	c.955 others(512): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCAGGGTCAGAGCAGAGGCGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGG		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200717	T T	TGGAGGTG others(488): Show TGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGG GGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0132 a0001c0015t0001g0132	1	251	0.0040	495	c.955 others(512): Show c.955-6175_955-6174insTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGAAC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835489	G G	GCCCCCAC others(488): Show GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCA GCCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	382	0.0026	495	c.36 others(506): Show c.3612_*3613insCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAG GCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3472		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82971620	A A	ACAGGGGC others(488): Show ACAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGT ACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGG ACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCG ACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACC ACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGGGCTAGAAG GACCTGGTGCCGACACACCACACCAGGGGCCAGAAGGACCTGGTGCCGAC CACACCACACCACGGGCCAGAAGGACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp2 NA18522.hp2 HG02572.hp1 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0033 a0001c0001t0004 a0001c0006t0033	a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0006t0033g0046 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0006t0033g0046	3	258	0.0116	495	c.460 others(512): Show c.460-5875_460-5874insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTT CTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTAT GAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCG GGTCCTTCTGGCCCCTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(488): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGG AGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGG AGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGG GCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19070.hp2 NA18970.hp2 NA19070.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0060 a0002c0004t0001g0188 a0002c0004t0001g0060 a0002c0004t0001g0188	2	275	0.0073	495	c.465 others(510): Show c.465+102_465+103insGCCCTCCCTCCCTCCATCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCG CCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCC CTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCT CCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCC CTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCT CCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCC CTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCG CCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCC CGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGT CCCGCCCTCCCTCCC		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10						chr20	TogoVar
C2CD4C_chr19_400445_414147	404274	A A	AGGGGTGT others(488): Show AGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGACG GGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCTGTCCTGAGGGGT GTGAGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGG GGCCCTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGT GTGAGGGGGGGGACGGGGGTCCTGCCCCGAGGGGTCTGAGGGGGGGACGG GGTCCTGCCCCGAGGGGTGTGGGGGGGGGGACGGGGCCCTGTCCTGAGGG GTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACG GGGCCCTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGG TGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGGACGG GGCCCTGTCCCGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0156 a0001c0001t0050g0156	1	320	0.0031	495	c.28 others(506): Show c.2821_*2822insCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCCT CGGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCGGGGCAGGACCCCGT CCCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCCCCCTCACACCCCTC AGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCC CCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCCCCACACCCCT CGGGGCAGGACCCCGTCCCCCCCTCAGACCCCTCGGGGCAGGACCCCCGT CCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCCCCCTCACACCCCT CAGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTC CCCCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCACACCCCTC AGGGCAGGACCCCGTCCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCC CCCCACACCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1170		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(488): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18946.hp2 NA18960.hp2 others(1): Show HG00099.hp1 NA18946.hp2 NA18960.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0224 a0002c0002t0001g0233 others(1): Show a0002c0002t0001g0215 a0002c0002t0001g0224 a0002c0002t0001g0233 a0002c0002t0001g0253	4	251	0.0159	495	c.144 others(512): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCGCCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAG GCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCAGC		C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCTCCC others(488): Show CCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	237	0.0042	495	c.-45 others(516): Show c.-455+14562_-455+14563insTCCCCCTCCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCT CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCCTTCCCCTCCTCTCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(488): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0057 a0001c0001t0025g0057	1	12	0.0833	495	c.-45 others(516): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH13_chr16_82621969_83805640	83658757	A A	AAGGTCCC others(488): Show AAGGTCCCATATGCTCACCAGCAAGGTCTCATGTCCTCGCCACCAGGTCC CATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCCCGTATAC TCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCCGTATCCTCAGCAG CAAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTC CTGTATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCCCGTATC CTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCCCGTATCCTCACCA GCAAGGTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGT CCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTCTCATGT CCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTCTCATGTCCTCACC ACCAGGTCCCATATCCTCACCAGCAAGGTCCCATATCCTCACCACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0066 a0001c0002t0041g0066	1	104	0.0096	495	c.110 others(516): Show c.1102-12022_1102-12021insGCTCACCAGCAAGGTCTCATGTCC TCGCCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTCACCAC CAGGTCCCGTATACTCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCC CGTATCCTCAGCAGCAAGGTCCCATATCCTCACCAGCAAGGTCCCATGTC CTCACCACCAGGTCCTGTATCCTCACCAGCAAGGTCCCATGTCCTCACCA CCAGGTCCCGTATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTC CCGTATCCTCACCAGCAAGGTCCCATATCCTCACCACCAGGTCCCATGTC CTCACCAGCAAGGTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCA GCAAGGTCTCATGTCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGT CTCATGTCCTCACCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATAT CCTCACCACCAGGTCCCATAT		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83658757	A A	AAGGTCCC others(488): Show AAGGTCCCATATGCTCACCAGCAAGGTCTCATGTCCTCGCCACCAGGTCC CATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCCCGTATCC TCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCCGTATCCTCAGCAG CAAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTC CTGTATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCCCGTATC CTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCCCGTATCCTCACCA GCAAGGTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGT CCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTCTCATGT CCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTCTCATGTCCTCACC ACCAGGTCCCATATCCTCACCAGCAAGGTCCCATATCCTCACCACC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp2 HG02965.hp1 others(3): Show HG01255.hp2 HG02451.hp2 HG02965.hp1 HG02965.hp2 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0011 a0001c0001t0023 a0001c0002t0011 others(3): Show a0001c0001t0011 a0001c0001t0023 a0001c0002t0011 a0001c0002t0026 a0001c0003t0010 a0001c0004t0042	a0001c0001t0011g0041 a0001c0001t0023g0052 a0001c0002t0011g0050 others(3): Show a0001c0001t0011g0041 a0001c0001t0023g0052 a0001c0002t0011g0050 a0001c0002t0026g0086 a0001c0003t0010g0105 a0001c0004t0042g0091	6	109	0.0550	495	c.110 others(516): Show c.1102-12022_1102-12021insGCTCACCAGCAAGGTCTCATGTCC TCGCCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTCACCAC CAGGTCCCGTATCCTCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCC CGTATCCTCAGCAGCAAGGTCCCATATCCTCACCAGCAAGGTCCCATGTC CTCACCACCAGGTCCTGTATCCTCACCAGCAAGGTCCCATGTCCTCACCA CCAGGTCCCGTATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTC CCGTATCCTCACCAGCAAGGTCCCATATCCTCACCACCAGGTCCCATGTC CTCACCAGCAAGGTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCA GCAAGGTCTCATGTCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGT CTCATGTCCTCACCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATAT CCTCACCACCAGGTCCCATAT		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH23_chr10_71391920_71820947	71688911	C C	CCAGGGGT others(488): Show CCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAAC GGTGGTGGAGTCAGGGGTGGTGGAGTCAGGGGTAGAGGAGTCAGGGATGG TGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAG TCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGG GATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGG TGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAG CCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGCCAGG TGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGGGGTGG TGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAG CCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG03579.hp2 HG02055.hp2 HG02257.hp1 HG03579.hp2	a0030 a0056 a0086 a0030 a0056 a0086	a0030c0135 a0056c0160 a0086c0057 a0030c0135 a0056c0160 a0086c0057	a0030c0135t0018 a0056c0160t0001 a0086c0057t0027 a0030c0135t0018 a0056c0160t0001 a0086c0057t0027	a0030c0135t0018g0030 a0056c0160t0001g0141 a0086c0057t0027g0176 a0030c0135t0018g0030 a0056c0160t0001g0141 a0086c0057t0027g0176	3	85	0.0353	495	c.205 others(514): Show c.2059+1206_2059+1207insTCAGGGGTGGTGGAGCCAGGGGTGGT GGAGCCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCAGGGGTAGAGGAGT CAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGG GTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGT GGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGC CAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGG GTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGT GGAGCCAGGTGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGT CAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGG ATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGT GGAGTCAGGGGTGGTGGAG		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69					INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH4_chr20_61247261_61945617	61272883	A A	AGAGTACC others(488): Show AGAGTACCGTGTGCAGTTTGGGGGAGTACCGTGTGCAGTTTGGGGGAGTA CCGTGTGCAGTTTGGGGGAGTATTGGGGGAGTACCATGTGCAGTTTTGGG GAGTACCGTGTGCAGTTTGGGGGAGTATTGGGGGAGTACCATGTGCAGTT TGGGGGAGGACCACGTGCAGTTTGGGGGAGGACCATGTGCAGTTTGGGGG AGTATTGGGGGAGTACCACGTGCAGTTTGGGGGAGGACCATGTGCAGTTT TGGGGAGTACCGTGTGCAGTTTGGGGGAGTATTGGGGGAGTACCATGTGC AGTTTGGGGGAGCACCATGCGCAGTTTGGGAGAGTACCTTGTGCAGTTTG GGGGAGTACAGTGTGCAGTTTAGGGGAGTACCGTGTGCAGTTTGGGGGAG TATTGGGGAAGTACCATGTGCAGTTTGGGGGAATACCATGTGCAGTTTGG GAGAGTACCTTGTGCAGTTTGGGGGAGTACCGTGTGCAGTTTAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG02451.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0012 a0001c0003t0001 a0002c0004t0012	a0001c0003t0001g0015 a0002c0004t0012g0016 a0001c0003t0001g0015 a0002c0004t0012g0016	2	104	0.0192	495	c.169 others(514): Show c.169+17974_169+18468dupCCGTGTGCAGTTTGGGGGAGTACCGT GTGCAGTTTGGGGGAGTATTGGGGGAGTACCATGTGCAGTTTTGGGGAGT ACCGTGTGCAGTTTGGGGGAGTATTGGGGGAGTACCATGTGCAGTTTGGG GGAGGACCACGTGCAGTTTGGGGGAGGACCATGTGCAGTTTGGGGGAGTA TTGGGGGAGTACCACGTGCAGTTTGGGGGAGGACCATGTGCAGTTTTGGG GAGTACCGTGTGCAGTTTGGGGGAGTATTGGGGGAGTACCATGTGCAGTT TGGGGGAGCACCATGCGCAGTTTGGGAGAGTACCTTGTGCAGTTTGGGGG AGTACAGTGTGCAGTTTAGGGGAGTACCGTGTGCAGTTTGGGGGAGTATT GGGGAAGTACCATGTGCAGTTTGGGGGAATACCATGTGCAGTTTGGGAGA GTACCTTGTGCAGTTTGGGGGAGTACCGTGTGCAGTTTAGGGGAGTACCG TGTGCAGTTTGGGGGAGTA		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(488): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCC TCCCTCTCCCCCCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0066 a0001c0004t0026g0066	1	2	0.5000	495	c.75- others(512): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCC TCTCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCC CTCCCTCTTCCCCCCCC		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CHL1_chr3_191763_414417	262289	T T	TAGATCTA others(488): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTTACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCCCAGGGC AGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCCCAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTT AAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0076 a0003c0003t0008g0076	1	203	0.0049	495	c.-95 others(514): Show c.-95+17686_-95+17687insTAGATCTACACAGTACTTACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCCCAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCCCAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAT TCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCC		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133923	C C	CCCTCTCT others(488): Show CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTCTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	205	0.0049	495	c.-41 others(506): Show c.-4121_-4120insCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTTCC CCTCTCTCCCT		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3838		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45500533	A A	AGTGTGGG others(488): Show AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTGTGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG03486.hp2 HG02970.hp2 HG03195.hp1 HG03486.hp2	a0001 a0026 a0001 a0026	a0001c0035 a0026c0056 a0001c0035 a0026c0056	a0001c0035t0001 a0026c0056t0001 a0001c0035t0001 a0026c0056t0001	a0001c0035t0001g0033 a0001c0035t0001g0145 a0026c0056t0001g0091 a0001c0035t0001g0033 a0001c0035t0001g0145 a0026c0056t0001g0091	3	92	0.0326	495	c.268 others(514): Show c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG TTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGG		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500533	A A	AGTGTGGG others(488): Show AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TTGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTGTGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	90	0.0111	495	c.268 others(514): Show c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGG TTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGG		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(488): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGG GGGTGGTGGTGGTGATGATGATGGCGGGGGTGATGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGAT GATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGA TGTTGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0043 a0043	a0043c0175 a0043c0175	a0043c0175t0002 a0043c0175t0002	a0043c0175t0002g0008 a0043c0175t0002g0008	1	20	0.0500	495	c.371 others(514): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGG GGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGAT GATGGTGGGGGTGGGGGTG		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A2_chr13_110302284_110518209	110355449	T T	TGTGGGGG others(488): Show TGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA GTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGA GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG GGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0024 a0002c0006t0002g0024	1	364	0.0027	495	c.100 others(512): Show c.100-1974_100-1973insGTAGCTCACCTGTGTGTGGGGGTGGAGG GCTGTACAGCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTG TGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGC TGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGT GTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGC ACTAGCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTG TGTGGGGGAGGGCTGCA		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
CROCC2_chr2_240901336_240998311	240976331	T T	TCTCTGCG others(488): Show TCTCTGCGGTGGGAGCCTCAGGAGCCCAGGCTGATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTTATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp2 HG02486.hp2 NA18522.hp2	a0012 a0023 a0012 a0023	a0012c0013 a0023c0055 a0012c0013 a0023c0055	a0012c0013t0001 a0023c0055t0001 a0012c0013t0001 a0023c0055t0001	a0012c0013t0001g0146 a0023c0055t0001g0018 a0012c0013t0001g0146 a0023c0055t0001g0018	2	348	0.0057	495	c.440 others(514): Show c.4402-6544_4402-6543insCGGTGGGAGCCTCAGGAGCCCAGGCT GATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCC CTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCT CAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTC TCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGG GGTAGGAGCCTCAGGATCCCAGGCTTATCCCTGCTCAGTCTCTGGGGTAG GAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCC TCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGG AGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCC AGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCT CATCCCTGCTCAGGCTCTG		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar

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