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
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGA GGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGG GTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGAC TCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18988.hp1 NA18995.hp2 others(1): Show HG02080.hp1 NA18988.hp1 NA18995.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0145 a0001c0001t0001g0213 a0001c0001t0001g0012 a0001c0001t0001g0145 a0001c0001t0001g0213	4	268	0.0149	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACC CTCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACC GCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGC GTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGT CTAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCT AACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACA CGAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGA GGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGG GTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGAC TCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03834.hp1 NA19009.hp2 HG01257.hp1 HG03834.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0116 a0001c0001t0001g0221 a0001c0001t0001g0222	3	267	0.0112	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACC GCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGC GTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGT CTAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCT AACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACA CGAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(617): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGACGG ATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGGTAGAT GGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGG ATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGAT GGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGG ATGGATGGATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATG GATGGATAGGTGGATGAATGGATGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(44): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00741.hp2 HG01074.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03490.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp2 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18964.hp1 NA18982.hp1 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19062.hp2 NA19066.hp2 NA19081.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0012 a0001c0001 a0002c0002 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0002c0002t0003 a0002c0002t0004 a0004c0012t0001 a0004c0012t0002	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0053 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0002g0160 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0002g0262 a0001c0001t0002g0279 a0001c0001t0002g0300 a0001c0001t0003g0232 a0001c0001t0003g0271 a0001c0001t0010g0013 a0001c0001t0012g0027 a0002c0002t0003g0174 a0002c0002t0003g0226 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0259 a0002c0002t0003g0261 a0002c0002t0003g0281 a0002c0002t0003g0282 a0002c0002t0003g0286 a0002c0002t0003g0298 a0002c0002t0003g0302 a0002c0002t0003g0304 a0002c0002t0004g0021 a0002c0002t0004g0036 a0002c0002t0004g0055 a0002c0002t0004g0067 a0002c0002t0004g0078 a0002c0002t0004g0113 a0002c0002t0004g0118 a0002c0002t0004g0134 a0004c0012t0001g0064 a0004c0012t0002g0264	47	120	0.3917	624	c.199 others(641): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGACGGATGGATGGATGGATGAGTAGATGAATGGA TGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGATGGATGTGTGGGTG GGTGGAGGGAAGGATGGATGGATGGATAAATGGATGGATAGGTGGATGGG TGGATGGAGGGATGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCG GAGGGATGGATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGT GGGCGGAGGGATGGATGGATGGATGGATAGGTGGATGAATGGATGA		INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26						chr2	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(617): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0130 a0002c0003t0001g0130	1	233	0.0043	624	c.127 others(643): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT		IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14						chr3	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(617): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGGAA GGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAA AGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	5	0.2000	624	c.-46 others(635): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCC CCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCT CCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCT CCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTC CCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCC CCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTC TATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTT TCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC		KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding					4566		chr19	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(617): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGTATCTCAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	188	0.0053	624	c.507 others(641): Show c.507-8293_507-8292insATGAGATACTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(617): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATACATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	64	0.0156	624	c.125 others(641): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATACATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATATT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471507	T T	TATATAAA others(617): Show TATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATTA CATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATA TTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTAT ATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATTT ATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTAT GTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTAT TTATATATATTTATATATTTATATGTATTTATACATATATATTTATATGT ATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp2 HG01257.hp2 others(9): Show HG00140.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01943.hp2 HG01981.hp1 HG03704.hp1 NA18969.hp2 NA18970.hp1 NA18980.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0192 others(9): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0192 a0001c0001t0001g0204 a0002c0002t0001g0014 a0002c0002t0001g0080 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0145 a0002c0002t0001g0150 a0002c0002t0001g0177 a0002c0002t0003g0029	12	224	0.0536	624	c.125 others(641): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTA		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6						chr10	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(617): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCGC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCGCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCT TACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTACCCCT GCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	88	0.0114	624	c.171 others(641): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGCGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACTG GGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGG GGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGCG GGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGG GGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACTGGGGGG GGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(617): Show ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACGCCCACAC TCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACGCCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGC CCACACTTACACTCATGCTTACATCTACCTCCACACCCGCGCTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACCCACACTTACACCCACCCACACTTACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0073 a0001c0001t0025g0073	1	260	0.0038	624	c.129 others(641): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCGC TTACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACGCCCACACTTACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACTC ATGCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACGCCCACACTTACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCACAC TTACACCCACCCACACTTACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACCC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
MBTPS1_chr16_84048763_84121942	84051959	C C	CCGCATGT others(617): Show CCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGC TACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAA GGAGAGCTGCAAGGCCCCATGTGGGTAAGGAGAGCTGCAAGGCCGTATGT GGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCC GCATGTGCGTAAGGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGG CAAGGCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGG AGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTG CGTAAGGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGGCAAGGCC CCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGCTG CAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCACGTGGGTAAGGA GAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCCATGTGG GTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCG CATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18992.hp1 NA18952.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0098 a0001c0001t0001g0002 a0001c0001t0001g0098	2	353	0.0057	624	c.24 others(635): Show c.2489_*2490insCCTTGCAGCTCTCCTTACCCACATGCGGGCCTTG CAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATGGG GCCTTGCCGCTCTCCTTACCCACATGGGGGTCTTGCAGCTCTCCTTACCC ACGTGCGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCC TTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGCC GCTCTCCTTACCCACATGGGGGTCTTGCAGCTGTCCTTACGCACATGCGG GCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCA CATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGCCGCTCTCC TTACCCACATGGGGGTCTTGCAGCTGTCCTTACGCACATGCGGCCTTGCA GCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATACGGC CTTGCAGCTCTCCTTACCCACATGGGGCCTTGCAGCTCTCCTTACCCACA TGCGGCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTT ACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGCG		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					1803		chr16	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(617): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0060 a0060	a0060c0083 a0060c0083	a0060c0083t0001 a0060c0083t0001	a0060c0083t0001g0033 a0060c0083t0001g0033	1	83	0.0120	624	c.377 others(641): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(617): Show ACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCA CACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCC CACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACA CACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCC CCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACAC ACACACCCCCCACCCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCT GCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTG GGAGCCACACACACACACCCCCCCACACACACACCCCGCCCCACACACAC ACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCC CCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACACACCCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	259	0.0039	624	c.557 others(641): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACA CACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGG AGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCC CACCCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGT GGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACAC ACACACACCCCCCCACACACACACCCCGCCCCACACACACACCCCCCGCC CCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCC GCCCCACACACACACCCCCCGCCCCACACACACACACCCCCGCCCC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MUC4_chr3_195741771_195816929	195782475	G G	GGTGGATA others(617): Show GGTGGATATTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTA TGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTG GATGCTGAGGAAGTGTCGGTGTCAGGAAGAGGGGTGGCGTGACCTGTGGA TGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATA CTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCT GAGGAAGTGTCGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGA GGAAAGGCTGGTGAGAGGAAGAGGGGTAGCGTGACCTGTGGACACTGAGG AAGCGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAA GCGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGC GTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGA TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTCG GTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGACGAAGCGTCGGT GACAGGAAGAGGGGTGGTGTGACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02895.hp1 HG02895.hp1	a0078 a0078	a0078c0146 a0078c0146	a0078c0146t0004 a0078c0146t0004	a0078c0146t0004g0235 a0078c0146t0004g0235	1	84	0.0119	624	c.910 others(633): Show c.9104_9105insAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTC GTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCT CAGTGTTCACAGGTCATGCCACCTCTCTTCCTGTCACCATCCCTTCCTCA GCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGT GTCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGT CCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAGTGTCC ACAGGTCACGCTACCCCTCTTCCTCTCACCAGCCTTTCCTCAGTATCCAC AGGTGACACCACGCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAG GTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGT GACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCA CGCCACCCCTCTTCCTGACACCGACACTTCCTCAGCATCCACAGGTCACG CCACCCTTCTTCCTGTCACCGACACTTCCTCAGCATCCATAGGTCACGCC ACCTCTCTTCCTGTCACCGACACTTCCTCAATATCCAC	p.Thr others(639): Show p.Thr3035_Gly3036insGlyHisThrThrProLeuProValThrAsp AlaSerSerValSerThrGlyHisAlaThrSerLeuProValThrAspAl aSerSerValPheThrGlyHisAlaThrSerLeuProValThrIleProS erSerAlaSerSerGlyHisThrThrProLeuProValThrAspAlaSer SerValSerThrGlyHisAlaThrSerLeuProValThrAspAlaSerSe rValSerThrGlyHisAlaThrProLeuProValThrAspAlaSerSerV alSerThrGlyHisAlaThrProLeuProLeuThrSerLeuSerSerVal SerThrGlyAspThrThrProLeuProValThrAspThrSerSerAlaSe rThrGlyGlnAlaThrProLeuProValThrSerLeuSerSerValSerT hrGlyAspThrThrProLeuProValThrAspThrSerSerAlaSerThr GlyHisAlaThrProLeuProAspThrAspThrSerSerAlaSerThrGl yHisAlaThrLeuLeuProValThrAspThrSerSerAlaSerIleGlyH isAlaThrSerLeuProValThrAspThrSerSerIleSerThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9216/16756	9104/16239	3035/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782941	G G	GGGGTGGT others(617): Show GGGGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGG GGTGGCCTGTCCTGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGA TGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTG GCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGC GTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGT GACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGA CCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCCCCTG TGGATAATGAGGAAGCATCGGTGACATGAAGAGCGGTGGCGTGACCTGTG GATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGCGTGACCTGTGGA TACTGAGGAAGCGTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATG CCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCT GAGGAAAGGCCGGTGACAGGAAGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01433.hp2	a0044 a0044	a0044c0147 a0044c0147	a0044c0147t0003 a0044c0147t0003	a0044c0147t0003g0208 a0044c0147t0003g0208	1	248	0.0040	624	c.863 others(633): Show c.8638_8639insATCTTCCTGTCACCGGCCTTTCCTCAGCTTCCACAG GTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCACAGGT CACGCCACCCCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCA CGCCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACG CCACCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGGGACACC ACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCAC CCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCT CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCTCT CTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCT TCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTC CTGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCATCCCTCTTCTT GTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTCCTGT CACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCC	p.Thr others(639): Show p.Thr2879_Pro2880insHisLeuProValThrGlyLeuSerSerAla SerThrGlyAspThrThrArgLeuProValThrAsnValSerSerAlaSe rThrGlyHisAlaThrProLeuLeuValThrAspAlaSerSerValSerT hrGlyHisAlaThrSerLeuLeuValThrAspAlaSerSerValSerThr GlyHisAlaThrAlaLeuHisValThrAspAlaSerSerLeuSerThrGl yAspThrThrProLeuProValThrSerProSerSerAlaSerThrGlyA spThrThrProLeuProValThrAspThrSerSerValSerThrGlyHis AlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHisAl aThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHisAlaT hrProLeuProValThrAspThrSerSerAlaSerThrGlyGlnAlaThr ProLeuProValThrSerProSerSerAlaSerThrGlyHisAlaIlePr oLeuLeuValThrAspThrSerSerAlaSerThrGlyGlnAlaThrProL euProValThrSerLeuSerSerAlaSerThrGlyAspThrThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8750/16756	8638/16239	2880/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786951	G G	GGAAGTGT others(617): Show GGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGG AAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAA GTGTCGGTGTCAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGT GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGC TGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGT GAGAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGA CAGGAAGAGGGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA GGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGG AAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAA GAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGC GAGGTGGCGTGACCTGTGAACACTGAGGAAGCGTCGGTGACAGGAAGAGA GGTGGCGTGACCTGTGGACACTGAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02895.hp2 HG02895.hp2	a0079 a0079	a0079c0133 a0079c0133	a0079c0133t0001 a0079c0133t0001	a0079c0133t0001g0016 a0079c0133t0001g0016	1	248	0.0040	624	c.462 others(633): Show c.4628_4629insGTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGT CACCGACGCTTCCTCAGTGTTCACAGGTCACGCCACCTCGCTTCCTGTCA CCATCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACC GACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCGA CGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACG CTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTGTCACCGACACT TCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTCTCACCAGCCTTTC CTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCGACACTTCCT CAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCA GTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGC ATCCACAGGTCACGCCACCCCTCTTCCTGACACCGACACTTCCTCAGCAT CCACAGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCC ACAGGTCACGCCACCCTTCTTCCTGTCACCGACACTTC	p.Ser others(639): Show p.Ser1543_Ser1544insSerValSerThrGlyHisAlaThrSerLeu ProValThrAspAlaSerSerValPheThrGlyHisAlaThrSerLeuPr oValThrIleProSerSerAlaSerSerGlyHisThrThrProLeuProV alThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProVal ThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuProValTh rAspAlaSerSerValSerThrGlyHisAlaThrProLeuProValThrA spThrSerSerValSerThrGlyHisAlaThrProLeuProLeuThrSer LeuSerSerValSerThrGlyAspThrThrProLeuProValThrAspTh rSerSerAlaSerThrGlyGlnAlaThrProLeuProValThrSerLeuS erSerValSerThrGlyAspThrThrProLeuProValThrAspThrSer SerAlaSerThrGlyHisAlaThrProLeuProAspThrAspThrSerSe rAlaSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerA laSerThrGlyHisAlaThrLeuLeuProValThrAspThrSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4740/16756	4628/16239	1543/5412			chr3	TogoVar
NLGN4X_chrX_5885042_6233867	6161078	T T	TATATAAT others(617): Show TATATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATAT AAAATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTAT ATATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATATA AAATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTATA TATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATATAA AATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTATAT ATTATATAGGATATAAAATATATTATTCTATATATTATATAGGATATAAA ATATATTATTCTATATATTATATAGGATATAAAATATATTATTCTATATA TTATATAGGATATAAAATATATTATTCTATATATAATATAGGATATAAAA TATATTATTCTATATATAATATAGGATATAAAATATATTATTCTATATAT AATATAGGATATATAATATATTATTCTATATATAATATAGGATATAAAAT ATATTCTATAAATAATATAGGATATAAAATATATTATTCTATATATAATA TAGGATATAAAATATATTATTCTAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01981.hp2 HG00741.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0062 a0001c0001t0004g0007 a0001c0001t0004g0062	2	119	0.0168	624	c.-30 others(643): Show c.-305-9308_-305-9307insGTAGAATAATATATTTTATATCCTAT ATTATATATAGAATAATATATTTTATATCCTATATTATTTATAGAATATA TTTTATATCCTATATTATATATAGAATAATATATTATATATCCTATATTA TATATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATAT TTTATATCCTATATTATATATAGAATAATATATTTTATATCCTATATAAT ATATAGAATAATATATTTTATATCCTATATAATATATAGAATAATATATT TTATATCCTATATAATATATAGAATAATATATTTTATATCCTATATAATA TATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTT TATATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATAT ATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTTT ATATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATATA TAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTTTA TATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATAT		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	1/5						chrX	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCAAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02280.hp2 others(4): Show HG01167.hp1 HG01169.hp1 HG02280.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp1 NA20300.hp2	a0001 a0007 a0025 a0001 a0007 a0025	a0001c0003 a0001c0004 a0007c0021 others(1): Show a0001c0003 a0001c0004 a0007c0021 a0025c0038	a0001c0003t0001 a0001c0004t0003 a0007c0021t0003 others(1): Show a0001c0003t0001 a0001c0004t0003 a0007c0021t0003 a0025c0038t0001	a0001c0003t0001g0183 a0001c0003t0001g0201 a0001c0003t0001g0203 others(4): Show a0001c0003t0001g0183 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0208 a0001c0004t0003g0237 a0007c0021t0003g0200 a0025c0038t0001g0202	7	14	0.5000	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGG ACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	8	0.1250	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGG AGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGG GGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTCT GGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGG ACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02129.hp1 NA18973.hp2 HG02071.hp2 HG02129.hp1 NA18973.hp2	a0001 a0001	a0001c0007 a0001c0013 a0001c0024 a0001c0007 a0001c0013 a0001c0024	a0001c0007t0009 a0001c0013t0003 a0001c0024t0001 a0001c0007t0009 a0001c0013t0003 a0001c0024t0001	a0001c0007t0009g0309 a0001c0013t0003g0211 a0001c0024t0001g0212 a0001c0007t0009g0309 a0001c0013t0003g0211 a0001c0024t0001g0212	3	10	0.3000	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTCT GGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGG ACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCAAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0238 a0001c0008t0001g0238	1	8	0.1250	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAG TCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACA GAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCC CCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0169 a0001c0001t0024g0169	1	8	0.1250	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGC TCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGT GGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGGACTC GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(617): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATAAAGT ATATATATAATATATATAATATATATTATATATATAAAGTATATATATAA TATATATAATATATATTATATATATAAAGTATATATATTATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATTATATATAAAGTATATATATAATATATATTATATATATATAAAAT ATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp2 HG02615.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0255 a0001c0001t0004g0250 a0001c0001t0004g0255	2	3	0.6667	624	c.730 others(641): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATAATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(617): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATAAAGTATATATATAA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATTATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATTATATATAAAGTATATATATAATATATATTATATATATATAAAAT ATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	2	0.5000	624	c.730 others(641): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATAATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATTATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(617): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATTATATATATAAAGT ATATATATAATATATATAATATATATTATATATATAAAGTATATATATAA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATTATATATATAATATATATTATATATATAAAGT ATATATATAATATATATAATATATATTATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATTATATATAAAGTATATATATAATATATATTATATATATATAAAAT ATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	2	0.5000	624	c.730 others(641): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATAATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NXN_chr17_794310_984776	948826	G G	GGCCTCCT others(617): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCC CCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	222	0.0045	624	c.360 others(643): Show c.360+30492_360+30493insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCCGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(617): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCC AGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02922.hp2 HG02280.hp2 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0007g0025 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0007g0025	3	61	0.0492	624	c.155 others(643): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(617): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCC AGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	59	0.0169	624	c.155 others(643): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(617): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGAG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCAT GGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCA GACCACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTA TCATGGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATT TTCAGACCACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01515.hp2 HG00741.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0298 a0001c0001t0002g0025 a0001c0001t0002g0298	2	32	0.0625	624	c.27 others(635): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTG GTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCTCCACTTA CCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGAC TGTGGTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCA CTTACCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTC		ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding					2224		chr7	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(617): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCAT GGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCA GACCACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTA TCATGGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATT TTCAGACCACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03710.hp2 HG03831.hp2 others(1): Show HG03490.hp2 HG03710.hp2 HG03831.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0238 a0001c0001t0002g0256 a0001c0001t0002g0273 others(1): Show a0001c0001t0002g0238 a0001c0001t0002g0256 a0001c0001t0002g0273 a0001c0001t0004g0027	4	34	0.1176	624	c.27 others(635): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTG GTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTA CCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGAC TGTGGTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCA CTTACCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTC		ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding					2224		chr7	TogoVar
PAM16_chr16_4335251_4356321	4344478	C C	CCGTGAGA others(617): Show CCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGG AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGATTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGGGGTT CCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGG AGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGACTGT GTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGA CTGTGTGAGAGGAGGGGATTCCGTGAGAGGAGGGGATTGTGTGAGAGGAG GGGGTTCTGTGAGAGGAGGGGACTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	325	0.0031	624	c.4-1 others(637): Show c.4-1188_4-1187insCAGTCCCCTCCTCTCACAGAACCCCCTCCTCT CACACAATCCCCTCCTCTCACGGAATCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCC CCTCCTCTCAGAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACA GTCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCT CTCACACAGTCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCC TCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCC CTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAA CCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCAC AGAACCCCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCA CAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCT CTCACAGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACG		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGACAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	624	c.-26 others(635): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATC TGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTG TCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATA TGTCTATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	183	0.0109	624	c.-26 others(635): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATC TGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATA TGTCTATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	624	c.-26 others(635): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTA TCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATA TGTCTATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PLCB4_chr20_9064087_9485808	9188524	T T	TAGTGACA others(617): Show TAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGT GACATTCTGGGTTGGTTAACTGTTCACTGTGGAGGGCTGTCATATAGTGA CATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACA TTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACATT CTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCT GGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGG GTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGT TGGTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTG GTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGT TAAGTGTTCGTTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTA ACTGTTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAAC TGTTCATTGTGGAGGGCTGTCATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA20129.hp1 HG02965.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0139 a0001c0001t0004g0073 a0001c0001t0001g0139 a0001c0001t0004g0073	2	117	0.0171	624	c.-78 others(643): Show c.-78-28819_-78-28818insTAGTGACATTCTGGGTTGGTTAAGTG TTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTT CACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCA TTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAAGTGTTCATT GTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGT GGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGG AGGGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAG GGCTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGG CTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCT GTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCGTTGTGGAGGGCTGT CATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCA TATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA CAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9188524	T T	TAGTGACA others(617): Show TAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGT GACATTCTGGGTTGGTTAACTGTTCACTGTGGAGGGCTGTCATATAGTGA CATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACA TTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATT CTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCT GGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGG GTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGT TGGTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTG GTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGT TAAGTGTTCGTTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTA ACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAAC TGTTCATTGTGGAGGGCTGTCATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	116	0.0086	624	c.-78 others(643): Show c.-78-28819_-78-28818insTAGTGACATTCTGGGTTGGTTAAGTG TTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTT CACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCA TTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATT GTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGT GGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGG AGGGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAG GGCTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGG CTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCT GTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCGTTGTGGAGGGCTGT CATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCA TACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA CAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9188524	T T	TAGTGACA others(617): Show TAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGT GACATTCTGGGTTGGTTAACTGTTCACTGTGGAGGGCTGTCATATAGTGA CATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACA TTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATT CTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCT GGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGG GTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGT TGGTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTG GTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGT TAAGTGTTCGTTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTA ACTGTTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAAC TGTTCATTGTGGAGGGCTGTCATAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02132.hp1 HG02145.hp1 others(9): Show HG01175.hp2 HG02132.hp1 HG02145.hp1 HG02451.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0008 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0075 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0099 a0001c0001t0001g0140 a0001c0001t0002g0074 a0001c0001t0002g0127 a0001c0003t0001g0028 a0001c0003t0008g0087 a0002c0002t0001g0026 a0002c0002t0001g0058	12	127	0.0945	624	c.-78 others(643): Show c.-78-28819_-78-28818insTAGTGACATTCTGGGTTGGTTAAGTG TTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTT CACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCA TTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATT GTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGT GGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGG AGGGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAG GGCTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGG CTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCT GTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCGTTGTGGAGGGCTGT CATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCA TATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA CAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(617): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATC TCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0095 a0002c0005t0001g0095	1	24	0.0417	624	c.147 others(641): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCAC CCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCC CTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP4_chr10_120452227_120597065	120530690	T T	TAAAAGTG others(617): Show TAAAAGTGAGGTCTGTGTTGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTATGCATAT ATTATTCAAACAAAAATATTTGATAGTGTCAGGTTGAGACTTTTTAGCTG TTACCTCAATGTTTGTTGCACAGAAAACAATGTTATCCTATTTGAGACCC TCACATATGTATACAGAAAATATGTGAGTACCTTAAAATGGTTCTTTCCA AAATCTATTCCACTATCTTCATCTAGAAGTAAATTCTCTTTATAATATTT TGGGTATCTTTTCAAATATTTTAGTAAATTTTTATTTAAATAATAATTCA TATTTAAATTATCTATGTTATTCAATGCAGGGAAAAGTATATACTGTGAT TTTATTTACTTGTTCAACTTTTTCTTTTGACAGTAAAATTTATTTTTTGA ACTTAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	325	0.0031	624	c.445 others(641): Show c.445+9613_445+9614insGGAAGGGGAATATCACACTCTGGGGACT GTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAA TGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATA CATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGT ATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTATGCA TATATTATTCAAACAAAAATATTTGATAGTGTCAGGTTGAGACTTTTTAG CTGTTACCTCAATGTTTGTTGCACAGAAAACAATGTTATCCTATTTGAGA CCCTCACATATGTATACAGAAAATATGTGAGTACCTTAAAATGGTTCTTT CCAAAATCTATTCCACTATCTTCATCTAGAAGTAAATTCTCTTTATAATA TTTTGGGTATCTTTTCAAATATTTTAGTAAATTTTTATTTAAATAATAAT TCATATTTAAATTATCTATGTTATTCAATGCAGGGAAAAGTATATACTGT GATTTTATTTACTTGTTCAACTTTTTCTTTTGACAGTAAAATTTATTTTT TGAACTTAAAAAAAAAAAAAAAAAAAAAAAAAGTGAGGTCTGTGTT		PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRDM16_chr1_3064203_3443621	3163321	C C	CCGCAGAA others(617): Show CCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGC AGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAG AAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAA GCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCC CTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGG CATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCA TGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATG GTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCT AGAGGGCTTTGGGAGAGGGGATGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0127 a0002c0003t0004g0127	1	76	0.0132	624	c.38- others(641): Show c.38-22785_38-22784insGTCTAGAGGGCTTTGGGAGAGGGGATGT GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGC AGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAG AAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAA GCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCC CTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGG CATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCA TGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATG GTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCTCACCT others(617): Show CCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCA CCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCT CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCC TCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCA CCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCA CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCC TCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0128 a0001c0001t0024g0128	1	87	0.0115	624	c.139 others(643): Show c.1396-1105_1396-1104insTCACCTCCTCCTGCACTCCCATCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTC CTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTG TACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGC ACCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTC CTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTC ACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTG TACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTC CTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(617): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATATATAG TATATGCCATATGGTATATATTGCATATAAAATATATAGTATATGCCATA TGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTATATATT GCATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAAT ATATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATAT GCCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTA TATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATA TAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATA GTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	82	0.0122	624	c.-9+ others(641): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATGCAATATATACCATATGGCATA TACTATATATTTTATATGCAATATATACCATATGGCATATACTATATATT TTATATGCAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATATGCAATATATACCATATGGCAT ATACTATATATTTTATATGCAATATATACCATATGGCATATACTATATAT TTTATATGCAATATATACCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(617): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTAT TATTATAAAATAAATTATCTTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0191	1	126	0.0079	624	c.45- others(639): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAAT TATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATT ATCTTTATTTTATTATTATAAAATAAATTATCTTTATTATTATAAAATAA ATTATCTTTATTTTATTATTATAATAAATTATCTTTATTTTATT		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(617): Show CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCC TCTGCCCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA CAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGGG GATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCA CACCCTCTGACCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTG CCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCA CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGC CCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATG CCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	122	0.0082	624	c.727 others(637): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG GGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA TCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCA GAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTA GGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCC CGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTG GAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGG GGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8						chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(617): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATATAATTTT ACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0104 a0001c0002t0003g0104	1	121	0.0083	624	c.59- others(641): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATATACACA CACACACACACACACACACACATATACATACACATATATATGTGTGTATA TATACATGTATATATATGTATGTATATATGTGTATATATACATGTATATA TGTATGTATATATACGTGTATATTATGTATATATATACACATGATATATA TGTATGTATATATCATGTATATATATACATATATGTGTATATATACACGA TATATATGTGTATATATCATGTATATATATACATGTATACAATATATTAT ATATACATATATATTATATACATGTATATATACCTGTATACAATATATTA TATATACGTGTATATAATATATATACACGTATATATATTGTATACACGTA TATATAATATATACTTTATATATAATATATACATGTATATATATACTATA TATTATATATTAATATATACATGTATAATATATACATGTATATATTATAT ATACATATATATGTATATATAATATATACATATATGTACATATAATATAC ATGTCTATATGTATATATATTATACATACATGTCTGTATGTATACA		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(617): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATATATATATATATATATATATATATATATATATATATAATTTT ACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	121	0.0083	624	c.59- others(641): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATACACACA CACACACACACACACACACACATATACATACACATATATATGTGTGTATA TATACATGTATATATATGTATGTATATATGTGTATATATACATGTATATA TGTATGTATATATACGTGTATATTATGTATATATATACACATGATATATA TGTATGTATATATCATGTATATATATACATATATGTGTATATATACACGA TATATATGTGTATATATCATGTATATATATACATGTATACAATATATTAT ATATACATATATATTATATACATGTATATATACCTGTATACAATATATTA TATATACGTGTATATAATATATATACACGTATATATATTGTATACACGTA TATATAATATATACTTTATATATAATATATACATGTATATATATACTATA TATTATATATTAATATATACATGTATAATATATACATGTATATATTATAT ATACATATATATGTATATATAATATATACATATATGTACATATAATATAC ATGTCTATATGTATATATATTATACATACATGTCTGTATGTATACA		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
S1PR4_chr19_3173769_3185332	3178129	C C	CTCGGGCT others(617): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp2 NA18940.hp1 others(10): Show HG02165.hp1 HG02165.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18960.hp2 NA18970.hp2 NA18977.hp1 NA18993.hp1 NA19005.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0000 a0002c0004t0001g0000 a0001c0001t0001g0000 a0002c0004t0001g0000	13	161	0.0807	624	c.-66 others(633): Show c.-664_-663insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					639		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178129	C C	CTCGGGCT others(617): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTGCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	149	0.0067	624	c.-66 others(633): Show c.-664_-663insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTGCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					639		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178129	C C	CTCGGGCT others(617): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0000 a0001c0018t0001g0000	1	149	0.0067	624	c.-66 others(633): Show c.-664_-663insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					639		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178129	C C	CTTGGGCT others(617): Show CTTGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	149	0.0067	624	c.-66 others(633): Show c.-664_-663insTTGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					639		chr19	TogoVar

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