Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HRH3_chr20_62209960_62225278	62213606	A A	ATGGGGGA others(238): Show ATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGGGTG GGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGA GAGCAAGGATGGGGGGGAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGC GGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGG GGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGTGGGGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	245	c.23 others(256): Show c.2399_*2400insCCCATCCCCACTCTCCTTCCCCCACCCATCCCCA CTCTCCTTCCCCCCCATCCCTGCTCTCCCTTCCCCCATCCCCGCTCTCCC TCCCCCATCCCCGCTCTCCTTCCCCCACCCATCCCCGCTCTCCTTCCCCC CCATCCTTGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCCCCCATCCCCG CTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCATCCCTGCTCT CCCTTCCCCCA	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1353		chr20	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(238): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCG CCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCC CCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	330	0.0030	245	c.124 others(260): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCC CCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HTR2C_chrX_114579086_114915061	114807196	A A	ATATACAC others(238): Show ATATACACCATGTATATATACACCATATATACACCATGTATATATACACC ATATATACACCATGTATATATACACCATATATACACCATGTATATATACA CCATATATACACCATGTATATATACACCATATATACACCATGTATATATA CACCATATATACACCATGTATATATACACCATATATACACCATGTATATA TACACCATATATATACCATGTATATATACACCATATATATACCATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0169 a0002c0002t0004g0169	1	176	0.0057	245	c.350 others(264): Show c.350-40803_350-40802insCACCATGTATATATACACCATATATA CACCATGTATATATACACCATATATACACCATGTATATATACACCATATA TACACCATGTATATATACACCATATATACACCATGTATATATACACCATA TATACACCATGTATATATACACCATATATACACCATGTATATATACACCA TATATACACCATGTATATATACACCATATATATACCATGTATATATACAC CATATATATACCATGTATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114807196	A A	ATATACAC others(238): Show ATATACACCATGTATATATACACCATATATACACCATGTATATATACACC ATATATACACCATGTATATATACACCATATATACACCATGTATATATACA CCATATATACACCATGTATATATACACCATATATACACCATGTATATATA CACCATATATACACCATGTATATATACACCATATATATACCATGTATATA TACACCATATATATACCATGTATATATACACCATATATATACCATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0167 a0002c0002t0004g0167	1	176	0.0057	245	c.350 others(264): Show c.350-40803_350-40802insCACCATGTATATATACACCATATATA CACCATGTATATATACACCATATATACACCATGTATATATACACCATATA TACACCATGTATATATACACCATATATACACCATGTATATATACACCATA TATACACCATGTATATATACACCATATATACACCATGTATATATACACCA TATATATACCATGTATATATACACCATATATATACCATGTATATATACAC CATATATATACCATGTATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
ICA1_chr7_8108184_8267167	8152561	C C	CACCACCA others(238): Show CACCACCACCACATCTCCTTCACCACCACTACCCCCAGCACTACCACCAT CACCTCTTCCACCACTACCATCATCTCCTCCACCACCACTACCACCACCA CCACCATCTCCTTCACCACCACTACCCCCACCACTATCACCATCACCATC ACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTAC CACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	274	0.0037	245	c.804 others(262): Show c.804+4554_804+4555insAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGATG GTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAA GGAGATGTGGTGGTGGT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IGF1_chr12_102390874_102485563	102441952	C C	CTTCTTCT others(238): Show CTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	360	0.0028	245	c.221 others(264): Show c.221-22263_221-22262insAGAAAGAAGAAGAAGGAGAAGAAGAA GAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGAAGAAGAAGAAGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IL17RA_chr22_17080000_17120693	17103951	T T	TGTGGTGT others(238): Show TGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGGGAGAGTGGTGTG GCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGAGTGGTGTGGCTGGGAGT GGGGAGCGTGCACAGGTGGAGAGTGTGGTGTGGCTGGGAGTGGGGAGCGT GCACAGGTGGAGAGTGTGGTGTGGCTGGAGTGGGGAGCGTGCACAGGTGG AGAGTGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp2 HG01169.hp1 others(33): Show HG01070.hp1 HG01099.hp2 HG01169.hp1 HG01192.hp1 HG01361.hp2 HG01433.hp2 HG02055.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0012 a0015 a0016	a0001c0021 a0002c0003 a0002c0033 others(6): Show a0001c0021 a0002c0003 a0002c0033 a0004c0004 a0004c0019 a0006c0008 a0012c0020 a0015c0022 a0016c0023	a0001c0021t0067 a0002c0003t0025 a0002c0033t0008 others(17): Show a0001c0021t0067 a0002c0003t0025 a0002c0033t0008 a0004c0004t0012 a0004c0004t0013 a0004c0004t0015 a0004c0004t0016 a0004c0004t0018 a0004c0004t0033 a0004c0004t0049 a0004c0004t0076 a0004c0004t0077 a0004c0004t0081 a0004c0004t0087 a0004c0004t0107 a0004c0019t0013 a0006c0008t0069 a0012c0020t0018 a0015c0022t0086 a0016c0023t0018	a0001c0021t0067g0186 a0002c0003t0025g0245 a0002c0033t0008g0332 others(33): Show a0001c0021t0067g0186 a0002c0003t0025g0245 a0002c0033t0008g0332 a0004c0004t0012g0384 a0004c0004t0013g0020 a0004c0004t0013g0129 a0004c0004t0013g0182 a0004c0004t0013g0184 a0004c0004t0013g0196 a0004c0004t0013g0242 a0004c0004t0015g0128 a0004c0004t0015g0188 a0004c0004t0015g0192 a0004c0004t0015g0199 a0004c0004t0015g0219 a0004c0004t0015g0267 a0004c0004t0016g0185 a0004c0004t0016g0314 a0004c0004t0016g0344 a0004c0004t0018g0137 a0004c0004t0018g0232 a0004c0004t0018g0270 a0004c0004t0033g0206 a0004c0004t0033g0233 a0004c0004t0049g0093 a0004c0004t0049g0108 a0004c0004t0076g0191 a0004c0004t0077g0272 a0004c0004t0081g0283 a0004c0004t0087g0175 a0004c0004t0107g0231 a0004c0019t0013g0388 a0006c0008t0069g0239 a0012c0020t0018g0225 a0015c0022t0086g0271 a0016c0023t0018g0266	36	416	0.0865	245	c.846 others(260): Show c.846+410_846+411insGGAGAGTGGTGTGGCTGGGAGTGGGGAGCG TGCACAGGTGGAGAGAGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGT GGAGAGTGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGTGT GGTGTGGCTGGAGTGGGGAGCGTGCACAGGTGGAGAGTGTGGTGTGGCTG GGAGTGGGGAGCGTGCACAGGTGGAGAGAGTGGTGTGGCTGGGAGTGGGG AGCGTGCACAGGTGG	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
INF2_chr14_104684618_104727535	104720601	C C	CACGTCTG others(238): Show CACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTG CTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCG TCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGA TGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG04228.hp1 HG01106.hp2 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0048 a0002c0003t0049 a0002c0003t0048 a0002c0003t0049	a0002c0003t0048g0007 a0002c0003t0049g0229 a0002c0003t0048g0007 a0002c0003t0049g0229	2	380	0.0053	245	c.19 others(256): Show c.1927_*1928insCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGC GTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGG ATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACG TCTGCGTCGTC	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23	5382	INFO_REALIGN_3_PRIME	chr14	TogoVar
INPP5A_chr10_132532787_132788480	132774941	C C	CGGGCAGG others(238): Show CGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGACAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGACAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGAGAG GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	204	0.0049	245	c.978 others(262): Show c.978-2631_978-2630insAGAGGGACAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGAGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGAGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG ACAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGA GGAGGGGCAGGGAGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP1_chr4_6021199_6205549	6067601	A A	ACAGGTCA others(238): Show ACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACAC AGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAG GTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACACAC ACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACA GGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	233	0.0043	245	c.130 others(264): Show c.1303-2594_1303-2593insCGTGTGCAGAAGAGCTTGAGTGAACG TGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTG GAGCTCAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAAC CTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCT GGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGG AGCTCAGGGGGGTGACCTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGCCC others(238): Show ACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGC AGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGCA GGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAACACAG GTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0329 a0001c0022t0001g0329	1	380	0.0026	245	c.382 others(264): Show c.382+10744_382+10745insCCCCTGTATACAGGAGGAGCTGTGCG TCCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGT CCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTC CCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCC CCTCCAAGGATAAACACAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCC CTCCAAGGATAAAGGCAGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGCCC others(238): Show ACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGC AGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGCA GGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGCAG GTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01257.hp2 NA21309.hp1 others(1): Show HG01123.hp1 HG01257.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0006 others(1): Show a0001c0004 a0001c0005 a0001c0006 a0001c0014	a0001c0004t0001 a0001c0005t0007 a0001c0006t0024 others(1): Show a0001c0004t0001 a0001c0005t0007 a0001c0006t0024 a0001c0014t0001	a0001c0004t0001g0047 a0001c0005t0007g0037 a0001c0006t0024g0046 others(1): Show a0001c0004t0001g0047 a0001c0005t0007g0037 a0001c0006t0024g0046 a0001c0014t0001g0366	4	380	0.0105	245	c.382 others(264): Show c.382+10744_382+10745insCCCCTGTATACAGGAGGAGCTGTGCG TCCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGT CCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTC CCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCC CCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCC CTCCAAGGATAAAGGCAGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614709	T T	TCTGGTCC others(238): Show TCTGGTCCCTGCACACACGAGGAGCCACGCGTCCCCTCCCGGGATAAACG CTGGTCCCTGCACACACGAGGAGCCGCGTGTCCTCTCCCAGGATAAACGC TGGTCCCTGCACACGTGAGGAGCTGTGCGTCCCTTCCCGGGATAAACGCT GGTCCCTGCACACACGAGGAGCCGCGCGTCCCCTCCCGGGATAAACGCTG GTCCCTGCACACACGAGGAGCCGCGCGTCCCCTCCCGGGATAAACG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0262 a0001c0003t0001g0262	1	380	0.0026	245	c.382 others(264): Show c.382+11206_382+11207insACGCGTCCCCTCCCGGGATAAACGCT GGTCCCTGCACACACGAGGAGCCGCGTGTCCTCTCCCAGGATAAACGCTG GTCCCTGCACACGTGAGGAGCTGTGCGTCCCTTCCCGGGATAAACGCTGG TCCCTGCACACACGAGGAGCCGCGCGTCCCCTCCCGGGATAAACGCTGGT CCCTGCACACACGAGGAGCCGCGCGTCCCCTCCCGGGATAAACGCTGGTC CCTGCACACACGAGGAGCC	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNMB2_chr3_178531436_178849429	178758784	T T	TCTCCTCT others(238): Show TCTCCTCTAGGAGAGATATATATATATATATATATATCTCCAAGAGGAGA TATATATATATATATATATATATCTCCTCTAGGAGATATATATATATATC TCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATA TCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATA TATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	232	0.0043	245	c.-67 others(264): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATATCTCC TCTAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT CTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAGAGGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNN3_chr1_154692455_154875281	154755826	A A	AAGGAGGA others(238): Show AAGGAGGAGGAGGAGGAAAGAAGGAAGAAGGAAGAAGAAGGAAGAGGAAG ATGAGGAGGAAGAGGAGGAAGAAGAAGGAGGAGAAGAAGAAGAGAAGAAG AAGAGGTGGAGGATGGGGAGGGGAGGAGGAGGAGGGGTTGGGGAGGTGGA GGAGGAGGAAGAGCAAGAAGAACAAGAAGCCAAAGGCAAAGAAGAAGAAG ACGATGATGAAAAGGAGGAGGAGGAAGAGGAAGAGGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0070 a0001c0004t0016g0070	1	238	0.0042	245	c.144 others(266): Show c.1448+16148_1448+16149insCCTTCTTCTTCCTCTTCCTCTTCC TCCTCCTCCTTTTCATCATCGTCTTCTTCTTCTTTGCCTTTGGCTTCTTG TTCTTCTTGCTCTTCCTCCTCCTCCACCTCCCCAACCCCTCCTCCTCCTC CCCTCCCCATCCTCCACCTCTTCTTCTTCTCTTCTTCTTCTCCTCCTTCT TCTTCCTCCTCTTCCTCCTCATCTTCCTCTTCCTTCTTCTTCCTTCTTCC TTCTTTCCTCCTCCTCCTCCT	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNN3_chr1_154692455_154875281	154756040	G G	GAGGAGGA others(238): Show GAGGAGGAGGAGGAAGAGGAAGAGGAAGAAGAAGGAGGAGGAGGAGGGGG AAAGAAGGAAGAAGGAAGAAGAAGGAAGAGGAAGATGAGGAGGAAGAGGA GGAAGAAGAAGGAGGAGAAGAAGAAGAGAAGAAGAAGAGGTGGAGGATGG GGAGGGGAGGAGGAGGAGGGGTTGGGGAGGTGGAGGAGGAGGAAGAGCAA GAAGAACAAGAAGCCAAAGGCAAAGAAGAAGAAGACGATGATGAAA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0150 a0002c0009t0001g0150	1	238	0.0042	245	c.144 others(266): Show c.1448+15934_1448+15935insTTTCATCATCGTCTTCTTCTTCTT TGCCTTTGGCTTCTTGTTCTTCTTGCTCTTCCTCCTCCTCCACCTCCCCA ACCCCTCCTCCTCCTCCCCTCCCCATCCTCCACCTCTTCTTCTTCTCTTC TTCTTCTCCTCCTTCTTCTTCCTCCTCTTCCTCCTCATCTTCCTCTTCCT TCTTCTTCCTTCTTCCTTCTTTCCCCCTCCTCCTCCTCCTTCTTCTTCCT CTTCCTCTTCCTCCTCCTCCT	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KIZ_chr20_21121082_21251622	21209593	T T	TACACAGG others(238): Show TACACAGGTAAAATCCCTTCATTCCCTTTAACGTAGAACTTAAGTGTTGA TGCTTGCATTTCTCTTTAAACACCAAGAAATTACTTCCAGTGTCCAAGAG GAATACTCTTGAACCTTGAGGAAGAGTCAGTTAAATCTGCATATTAGGGG AAAATATCATCTGCTGTCCACATCCATTATTTTTAATTCTCTTGCTTTTC TGTGTCTGTGTTAGTAGCACTGGTTTGCATATAGAAGGGAATTTAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(162): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19006.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0003c0005 a0003c0014 a0004c0006 a0007c0011	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0005t0001 a0003c0014t0001 a0004c0006t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(156): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0001g0291 a0002c0002t0001g0124 a0002c0002t0001g0196 a0002c0002t0001g0211 a0002c0002t0001g0253 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0175 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0308 a0003c0005t0001g0167 a0003c0005t0001g0168 a0003c0014t0001g0122 a0004c0006t0001g0016 a0004c0006t0001g0039 a0007c0011t0001g0011	165	314	0.5255	245	c.144 others(264): Show c.1446+4010_1446+4254dupACACAGGTAAAATCCCTTCATTCCCT TTAACGTAGAACTTAAGTGTTGATGCTTGCATTTCTCTTTAAACACCAAG AAATTACTTCCAGTGTCCAAGAGGAATACTCTTGAACCTTGAGGAAGAGT CAGTTAAATCTGCATATTAGGGGAAAATATCATCTGCTGTCCACATCCAT TATTTTTAATTCTCTTGCTTTTCTGTGTCTGTGTTAGTAGCACTGGTTTG CATATAGAAGGGAATTTAA	KIZ	ENSG00000088970.16	transcript	ENST00000619189.5	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIZ_chr20_21121082_21251622	21209781	C C	CTCTTGCT others(238): Show CTCTTGCTTTTCTGTGTCTGTGTTAGTAGCACTGGTTTGCATATAGAAGG GAATTTAAACACAGGTAAAATCCCTTCATTCCCTTTAACGTAGAACTTAA GTGTTGATGCTTGCATTTCTCTTTAAACACCAAGAAATTACTTCCAGTGT CCAAGAGGAATACTCTTGAACCTTGAGGAAGAGTCAGTTAAATCTGCATA TTAGGGGAAAATATCATCTGCTGTCCACATCCATTATTTTTAATTA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	314	0.0032	245	c.144 others(264): Show c.1446+4254_1446+4255insACACAGGTAAAATCCCTTCATTCCCT TTAACGTAGAACTTAAGTGTTGATGCTTGCATTTCTCTTTAAACACCAAG AAATTACTTCCAGTGTCCAAGAGGAATACTCTTGAACCTTGAGGAAGAGT CAGTTAAATCTGCATATTAGGGGAAAATATCATCTGCTGTCCACATCCAT TATTTTTAATTATCTTGCTTTTCTGTGTCTGTGTTAGTAGCACTGGTTTG CATATAGAAGGGAATTTAA	KIZ	ENSG00000088970.16	transcript	ENST00000619189.5	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
L3MBTL4_chr18_5949717_6419911	6003021	A A	AAGTATCT others(238): Show AAGTATCTCTATTTATAGAGATACTATATAAAATATAGTATCTCTATTTA TAGAGATACTATATAAAATATAGTATCTCTATTTATAGAGATACTATATA AAATATAGTATCTCTATTTATAGAGATACTATATAAAATATAGTATCTCT ATTTATAGAGATACTATATAAAATATAGTATCTCTATTTATAGAGATACT ATATAAAATATAGTATCTCTATTTATAGAGATACTATATAAAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	94	0.0106	245	c.144 others(266): Show c.1445-33460_1445-33459insATATTTTATATAGTATCTCTATAA ATAGAGATACTATATTTTATATAGTATCTCTATAAATAGAGATACTATAT TTTATATAGTATCTCTATAAATAGAGATACTATATTTTATATAGTATCTC TATAAATAGAGATACTATATTTTATATAGTATCTCTATAAATAGAGATAC TATATTTTATATAGTATCTCTATAAATAGAGATACTATATTTTATATAGT ATCTCTATAAATAGAGATACT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
LAMB1_chr7_107918799_108008161	107953202	C C	CAAAAAAT others(238): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0277 a0001c0018t0001g0277	1	364	0.0028	245	c.307 others(262): Show c.3079+327_3079+328insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTT	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding	22/33			chr7	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(238): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCC CACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0287 a0001c0003t0003g0287	1	308	0.0033	245	c.66 others(256): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCC TCACACCACACAGCCCACACCCCTCTCCTCACACACCACACAGCTCACAT CCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(238): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACC ACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCT CCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCACACAGCCC ACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 NA19043.hp1 HG02451.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0084 a0002c0001t0001g0133 a0001c0002t0002g0084 a0002c0001t0001g0133	2	308	0.0065	245	c.66 others(256): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACATCC CTCTCCTCACACACCACACAGCCCACACCCCTCTCCTGCTCACACACCAC ACAGCCCACACCCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCA CACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACAC CCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104833044	T T	TATAATAG others(238): Show TATAATAGATATATTATATATATATAATATATAATAGATATATTATAGAT ATATTATATATAATAGATATATTATATATATTATATATAATAGATATATT ATAGATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATATATTATATATAATAGATATATTATATATATATTATATAT AATAGATATATTATATATATATTATATATAATAGATATATATTATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18994.hp1 NA19085.hp2 NA18947.hp1 NA18994.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0029 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0003g0029 a0001c0001t0008g0022 a0001c0001t0008g0023	3	86	0.0349	245	c.683 others(264): Show c.683-73143_683-73142insATAATAGATATATTATATATATATAA TATATAATAGATATATTATAGATATATTATATATAATAGATATATTATAT ATATTATATATAATAGATATATTATAGATATATTATATATAATAGATATA TTATATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATATATATTATATATAATAGATATATTATATATATATTATAT ATAATAGATATATATTATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104833044	T T	TATAATAG others(238): Show TATAATAGATATATTATATATATATAATATATAATAGATATATTATAGAT ATATTATATATAATAGATATATTATATATATTATATATAATAGATATATT ATATATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATATATTATATATAATAGATATATTATATATATATTATATAT AATAGATATATTATATATATATTATATATAATAGATATATATTATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02809.hp2 NA18612.hp1 others(1): Show HG02074.hp1 HG02809.hp2 NA18612.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0080 a0001c0001t0003g0053 a0001c0001t0003g0081 others(1): Show a0001c0001t0002g0080 a0001c0001t0003g0053 a0001c0001t0003g0081 a0001c0001t0008g0012	4	86	0.0465	245	c.683 others(264): Show c.683-73143_683-73142insATAATAGATATATTATATATATATAA TATATAATAGATATATTATAGATATATTATATATAATAGATATATTATAT ATATTATATATAATAGATATATTATATATATATTATATATAATAGATATA TTATATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATATATATTATATATAATAGATATATTATATATATATTATAT ATAATAGATATATATTATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104833044	T T	TATAATAG others(238): Show TATAATAGATATATTATATATATATAATATATAATAGATATATTATAGAT ATATTATATATAATAGATATATTATATATATTATATATAATAGATATATT ATATATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATCTATTATATATAATAGATATATTATATATATATTATATAT AATAGATATATTATATATATATTATATATAATAGATATATATTATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	86	0.0116	245	c.683 others(264): Show c.683-73143_683-73142insATAATAGATATATTATATATATATAA TATATAATAGATATATTATAGATATATTATATATAATAGATATATTATAT ATATTATATATAATAGATATATTATATATATATTATATATAATAGATATA TTATATATATTATATATAATAGATATATTATATCTATTATATATAATAGA TATATTATATATATATTATATATAATAGATATATTATATATATATTATAT ATAATAGATATATATTATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHPP_chr10_124456823_124619141	124507825	A A	AGGGTAGA others(238): Show AGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	260	0.0039	245	c.625 others(262): Show c.625-9310_625-9309insTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(238): Show ACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	414	0.0024	245	c.171 others(262): Show c.1718+199_1718+200insGGGTGTGGAGCCCGGGGTGCAGGGGTAA GGCCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACCGGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACCGGCGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACCGGGGGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(238): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACACC CCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	414	0.0024	245	c.171 others(262): Show c.1718+199_1718+200insGGGGTGTGGAGCCCGGGGTGCAGGGGTA AGGCCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAG GCCGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACCGGGGGGGGGGGGGGGGTGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGCGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACCGGGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LOC128125818_chr4_6059977_6075162	6067601	A A	ACAGGTCA others(238): Show ACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACAC AGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAG GTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACACAC ACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACA GGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0066 a0001c0001t0000g0066	1	462	0.0022	245	c.106 others(262): Show c.106+2455_106+2456insCGTGTGCAGAAGAGCTTGAGTGAACGTG GAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGA GCTCAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCT GGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGG AGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAG CTCAGGGGGGTGACCTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067677	G G	GGTTCACT others(238): Show GGTTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCT CCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCC ACGTTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC GTTCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACGT TCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0107 a0001c0001t0000g0107	1	462	0.0022	245	c.106 others(262): Show c.106+2379_106+2380insGTGGAGCTCAGGGGGGTGACCTGCGTGT GCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGC GGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGCAG AAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAA GAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTGTGCA GAAGAGCTTGAGTGAAC	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(238): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGGGCCA CTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACATAC CCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp1 NA19003.hp1 HG01099.hp1 HG01358.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0195 a0001c0004t0002g0196 a0001c0004t0002g0197 a0001c0004t0002g0195 a0001c0004t0002g0196 a0001c0004t0002g0197	3	296	0.0101	245	c.368 others(262): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTAT GTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGT ATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGG TATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(238): Show ACATCTACCTCCACACCCGCGCTTACACCCACACTTACATCTACCTCCAC ACCCACACTTACACCCACCCACACTCACACCCACGCTTACATCTACCTCC ACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02809.hp1 HG03209.hp1 others(1): Show HG02486.hp1 HG02809.hp1 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 others(1): Show a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0211	4	290	0.0138	245	c.129 others(264): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCACACTCA CACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LUC7L_chr16_183990_234449	186042	G G	GACACGGG others(238): Show GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	350	0.0029	245	c.31 others(256): Show c.3155_*3156insGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2947		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1929939	G G	GTCCCCAC others(238): Show GTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCG CCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCC CCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCA CAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCACT GCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	264	0.0038	245	c.180 others(264): Show c.1807+6747_1807+6748insTGGGGCGAGGGGACGTGGCAGCGGGG ACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGT GTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGGGACGTGG CAGTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGA CGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGA GGGGACGTGGCAGTGGGGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930159	C C	CCCCGCTG others(238): Show CCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGC CCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCC TCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGT CCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGC CACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0194 a0004c0008t0001g0194	1	264	0.0038	245	c.180 others(264): Show c.1807+6527_1807+6528insACGGGGCGAGGGGACGTGGCAGTGGG GGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCA GTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACG TGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGG GTTGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGC GAGGGGACGTGGCAGCGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(238): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCCTCATCCCGTCC CCTACTGCCACATCCCACCACCACGTCCACACTGCCACGTCCCCTCGCCC CATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACAACCCCT CATCCCGTCCCCTACTGCCACATCCCACCACCACGTCCACACTGCCATGT CCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	264	0.0038	245	c.180 others(264): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGATGAGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGTGGACGTGG TGGTGGGATGTGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAK_chr6_10757723_10843539	10786907	T T	TCACCAGT others(238): Show TCACCAGTTCACCTCCTATTCACCACTCCGCTAATGCACCAGTTCACCTC CTATTCACCACTCCGCTAATGCACCAGTTCACCTCCTATTCACCACTCCG CTAATGCACCAGTTCACCTCCTATTCACCACTCCGCTAATGCACCAGTTC ACCTCCTATTCACCACTCCGCTACTTCACCAGTTCACCTCCTATTCACCA CTCCGCTAATGCACCAGTTCACCTCCTATTCACCACTCCGCTAATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	272	0.0037	245	c.131 others(264): Show c.1317-2336_1317-2335insCATTAGCGGAGTGGTGAATAGGAGGT GAACTGGTGCATTAGCGGAGTGGTGAATAGGAGGTGAACTGGTGAAGTAG CGGAGTGGTGAATAGGAGGTGAACTGGTGCATTAGCGGAGTGGTGAATAG GAGGTGAACTGGTGCATTAGCGGAGTGGTGAATAGGAGGTGAACTGGTGC ATTAGCGGAGTGGTGAATAGGAGGTGAACTGGTGCATTAGCGGAGTGGTG AATAGGAGGTGAACTGGTG	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14			chr6	TogoVar
MAN2B2_chr4_6570189_6628362	6579135	C C	CCATCACC others(238): Show CCATCACCACCACCACCCTTCACCACCACCACCACCACCACCACCATCAC CACCACCACCCTTCACCACCATCACCACCACCACCATCACCACCACCATC ACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCATCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0264 a0001c0003t0003g0264	1	362	0.0028	245	c.391 others(260): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACCA TCACCACCACCATCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477857	G G	GGGGAGGG others(238): Show GGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAGGG GGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGG GGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAG AGGGGGGAGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	163	0.0061	245	c.525 others(262): Show c.525+8624_525+8625insTCCCCCCTCTCCCCCCTCCCCCCTCTCC CCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC CTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTC CCCCTCTCCCCCCTCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K19_chr2_134959491_135052447	135033467	C C	CCCCGGAC others(238): Show CCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGATGACCCCCCCACCTCCC TCCCGGAAGGGGTGGCTGGCCTGGCGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGAAGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 NA18522.hp2 HG02451.hp2 HG02809.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0001 a0001c0009t0004 a0001c0002t0001 a0001c0009t0001 a0001c0009t0004	a0001c0002t0001g0132 a0001c0009t0001g0142 a0001c0009t0004g0130 a0001c0002t0001g0132 a0001c0009t0001g0142 a0001c0009t0004g0130	3	334	0.0090	245	c.-28 others(264): Show c.-283-2968_-283-2967insAGGGAGGTGGGGGGGTCAGCCCCCGC CCGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAG GCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCATCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTTAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGG	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12			chr2	TogoVar
MCUB_chr4_109555246_109693719	109597335	A A	AGACGGGG others(238): Show AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04204.hp1 NA18989.hp1 HG02004.hp2 HG04204.hp1 NA18989.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0090 a0003c0003t0001g0286 a0003c0003t0001g0287 a0002c0002t0002g0090 a0003c0003t0001g0286 a0003c0003t0001g0287	3	336	0.0089	245	c.99+ others(262): Show c.99+36930_99+36931insTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGAC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MGAM_chr7_141990879_142111747	142045698	A A	ATATGAAT others(238): Show ATATGAATATATAATATATATTATATACATACAATATATGAATATATAAT ATATATTATATACATACAATGTATGAATATATAATATATAATATATACAT ACAATGTATGAATATATAATATATAATATATACATACAATGTATGAATAT ATAATATATAATATATACATACAATGTATGAATATATAATATATAATATA TACATACAATGTATGAATATATAATATATAATATATACATACAATG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp1 NA19043.hp2 HG02886.hp2 HG03130.hp1 NA19043.hp2	a0064 a0065 a0066 a0064 a0065 a0066	a0064c0138 a0065c0112 a0066c0137 a0064c0138 a0065c0112 a0066c0137	a0064c0138t0002 a0065c0112t0001 a0066c0137t0001 a0064c0138t0002 a0065c0112t0001 a0066c0137t0001	a0064c0138t0002g0034 a0065c0112t0001g0244 a0066c0137t0001g0035 a0064c0138t0002g0034 a0065c0112t0001g0244 a0066c0137t0001g0035	3	316	0.0095	245	c.249 others(264): Show c.2499-2068_2499-2067insTTATATACATACAATATATGAATATA TAATATATATTATATACATACAATGTATGAATATATAATATATAATATAT ACATACAATGTATGAATATATAATATATAATATATACATACAATGTATGA ATATATAATATATAATATATACATACAATGTATGAATATATAATATATAA TATATACATACAATGTATGAATATATAATATATAATATATACATACAATG TATGAATATATAATATATA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(238): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA20752.hp1 HG03654.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0034 a0001c0001t0001g0060	2	181	0.0111	245	c.107 others(264): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MIER2_chr19_300573_349796	309588	A A	ACACAAGG others(238): Show ACACAAGGCTTCAGGGAAACAAGAAGGGACACACACACACACACACAAGG CTTCAGGGAGACGAGAAGGGACACACACACACATGCACACAGGCTTCAGG GAGACGAGAAGGGACACACACACACACACACAAGGCTTCAGGGAGACGAG AAGGGACACACACATGCACACAAGGCTTCAGGGAGATGAGAAGGGACACA CACACGCACACAAGGCTTCAGGGAGACGAGAAGGGACACACACACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG02965.hp1 others(4): Show HG02258.hp1 HG02896.hp2 HG02965.hp1 HG03453.hp2 HG03516.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0004 a0001c0002t0002 a0001c0021t0014 a0001c0001t0004 a0001c0002t0002 a0001c0021t0014	a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0235 others(4): Show a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0002t0002g0105 a0001c0021t0014g0088	7	384	0.0182	245	c.985 others(260): Show c.985-664_985-663insCGTGTGTGTGTCCCTTCTCGTCTCCCTGAA GCCTTGTGTGCGTGTGTGTGTCCCTTCTCATCTCCCTGAAGCCTTGTGTG CATGTGTGTGTCCCTTCTCGTCTCCCTGAAGCCTTGTGTGTGTGTGTGTG TGTCCCTTCTCGTCTCCCTGAAGCCTGTGTGCATGTGTGTGTGTGTCCCT TCTCGTCTCCCTGAAGCCTTGTGTGTGTGTGTGTGTGTCCCTTCTTGTTT CCCTGAAGCCTTGTG	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(238): Show GGCCCGGAGCTGCAGAAACACGGCCCGGAGCTATAGAAACACGGCCCGGA GCTGCAGAAACAGGCCGGGAGCTGTAGAAACATGGCCTGGAGCTATAGAA ACGGCCCAGAGTCCAGAAACACAGCCCGGAGCTGTAGAAACACGGCCGGG AGCTGCAGAAACACAGCCGGGAGCTATAGAAACACGGCCCGGAGCTGTAG AAACACGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG02965.hp1 others(4): Show HG02258.hp1 HG02896.hp2 HG02965.hp1 HG03453.hp2 HG03516.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0004 a0001c0002t0002 a0001c0021t0014 a0001c0001t0004 a0001c0002t0002 a0001c0021t0014	a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0235 others(4): Show a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0002t0002g0105 a0001c0021t0014g0088	7	384	0.0182	245	c.984 others(262): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTATAGCTCCC GGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTACAGCTCCGGGCTGTGT TTCTGGACTCTGGGCCGTTTCTATAGCTCCAGGCCATGTTTCTACAGCTC CCGGCCTGTTTCTGCAGCTCCGGGCCGTGTTTCTATAGCTCCGGGCCGTG TTTCTGCAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237543630	G G	GGGGGGAC others(238): Show GGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTG AGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACG GTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	286	0.0035	245	c.153 others(262): Show c.1539+975_1539+976insGACAGTGGCAAGTGGGCACGGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGAC AGTGGTGAGTGGGGACGGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCAC GGTGGTGAGTGGAGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL42_chr12_93462514_93521214	93501903	A A	AAATGCTT others(238): Show AAATGCTTAATTTAATTAATAGTCAACAACTTAGCCACGTGTGGTGGTGT GCCTGTAGTCCCAGCTACTAGGCAGGGTAAGGTAGGAGGAGCCCTTGTGC CAGGAGTTTGAGGCTGTAGTACACTATTATTGAGCTTATGAATAAACTCT GCACTTCAGCCTGGGCAATAAAGCAAGACCCAGTCTCTAGAAAAAAAAAA TGATTAGGTAAAGAAAAGAAATCAAATTTTCACAATGGGAGAATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(82): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG01070.hp1 HG01074.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02080.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG03017.hp1 HG03098.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(26): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0021 a0001c0001t0036 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0189 a0002c0002t0096	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0005g0001 a0001c0001t0005g0088 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0168 a0001c0001t0008g0001 a0001c0001t0008g0005 a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0010g0007 a0001c0001t0010g0054 a0001c0001t0010g0064 a0001c0001t0010g0074 a0001c0001t0015g0065 a0001c0001t0015g0076 a0001c0001t0015g0083 a0001c0001t0015g0084 a0001c0001t0021g0005 a0001c0001t0021g0081 a0001c0001t0036g0068 a0001c0001t0036g0087 a0001c0001t0093g0057 a0001c0001t0094g0166 a0001c0001t0095g0015 a0001c0001t0097g0079 a0001c0001t0098g0208 a0001c0001t0099g0209 a0001c0001t0100g0066 a0001c0001t0101g0001 a0001c0001t0102g0052 a0001c0001t0103g0167 a0001c0001t0104g0050 a0001c0001t0105g0001 a0001c0001t0106g0001 a0001c0001t0107g0089 a0001c0001t0108g0005 a0001c0001t0109g0072 a0001c0001t0110g0071 a0001c0001t0111g0014 a0001c0001t0112g0058 a0001c0001t0113g0093 a0001c0001t0189g0051 a0002c0002t0096g0069	85	388	0.2191	245	c.68 others(254): Show c.682_*683insAATGCTTAATTTAATTAATAGTCAACAACTTAGCCA CGTGTGGTGGTGTGCCTGTAGTCCCAGCTACTAGGCAGGGTAAGGTAGGA GGAGCCCTTGTGCCAGGAGTTTGAGGCTGTAGTACACTATTATTGAGCTT ATGAATAAACTCTGCACTTCAGCCTGGGCAATAAAGCAAGACCCAGTCTC TAGAAAAAAAAAATGATTAGGTAAAGAAAAGAAATCAAATTTTCACAATG GGAGAATGT	MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	6/6	683		chr12	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGGCGCAT others(238): Show GGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCAC GTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCGTGG GGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGG GGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	388	0.0026	245	c.159 others(262): Show c.1596+242_1596+243insGCGCATGGGGGGGCGTGGAGGGGGGTGC GTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG GGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGT GGAGGAGGAGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGT GTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGG GCGCGTGGAGGGGGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(238): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTG GTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGT AGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0122 a0001c0007t0004g0122	1	384	0.0026	245	c.160 others(262): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACGACTACCACCACCACCACCACTACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACTACTGCCACC GCCGCCACCATCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCATCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(238): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGC GGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTG ATGGTGGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGT AGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0269 a0002c0002t0002g0269	1	384	0.0026	245	c.160 others(262): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACTACTGCCACCGCCGCCACCACCACCATCACCACCACCACCAT CACCACCATCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar

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