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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPN15_chr16_522712_559636	544791	T T	TCGCCTCC others(290): Show TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0012 a0001c0017t0012	a0001c0017t0012g0289 a0001c0017t0012g0289	1	391	0.0026	297	c.-22 others(314): Show c.-22-2024_-22-2023insCCTCCCCCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC77_chr12_396644_447642	421529	A A	ATACACAT others(290): Show ATACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATG CTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTCC ATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18971.hp1 NA18985.hp2 others(2): Show NA18950.hp2 NA18971.hp1 NA18985.hp2 NA19007.hp2 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 others(2): Show a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0231 a0003c0003t0002g0383	5	367	0.0136	297	c.413 others(314): Show c.413+2893_413+2894insTACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCAT TACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACA TAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(290): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	345	0.0029	297	c.626 others(312): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATAGAGATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAATATAT others(290): Show AAATATATATATATATATATATATATATATATATATATACACTCATATAT ATATATATATATACTCATATATATATATACTCATATATATATATATATAC TCATATATATATATACTCATATATATATATATACTCATATATATATATAT ACTCATATATATATATATACTCATATATATATATACTCATATATATATAT ACTCATATATATATATATATACTCATATATATATATATACACTCATATAT ATATATATATATATATACTCATATATATATATATATATATATACTCAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0138 a0002c0002t0010g0138	1	218	0.0046	297	c.232 others(318): Show c.2326-11614_2326-11613insATATATATATATATATATATATAT ATATATATATATACACTCATATATATATATATATATACTCATATATATAT ATACTCATATATATATATATATACTCATATATATATATACTCATATATAT ATATATACTCATATATATATATATACTCATATATATATATATACTCATAT ATATATATACTCATATATATATATACTCATATATATATATATATACTCAT ATATATATATATACACTCATATATATATATATATATATATACTCATATAT ATATATATATATATATACTCATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501837	A A	AAAATATA others(290): Show AAAATATATATATATATATATATATATATATATACACTCATATATATATA TATACTCATATATATATATATACTCATATATATATATATACTCATATATA TATATACTCATATATATATATATATACTCATATATATATATACTCATATA TATATATATACTCATATATATATATACTCATATATATATATACTCATATA TATATATATACTCATATATATATATATACTCATATATATATATACTCATA TATATATATATATATATATACTCATATATATATATATATATATATACT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0132 a0002c0002t0003g0132	1	361	0.0028	297	c.232 others(318): Show c.2326-11612_2326-11611insAAATATATATATATATATATATAT ATATATATACACTCATATATATATATATACTCATATATATATATATACTC ATATATATATATATACTCATATATATATATACTCATATATATATATATAT ACTCATATATATATATACTCATATATATATATATACTCATATATATATAT ACTCATATATATATATACTCATATATATATATATACTCATATATATATAT ATACTCATATATATATATACTCATATATATATATATATATATATACTCAT ATATATATATATATATATATACT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CDC16_chr13_114229897_114277723	114252075	T T	TTACACTA others(290): Show TTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAG AGCCCTACACTAGCCCTGTTGGATAAGAGCCTTACACTAGCCCTGTTGGA TAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGT TGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCC CTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACT AGCCCTGTTGGATAAGAGCCCTACACTAACCCTGTTGGATAAGAGCCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02257.hp1 others(4): Show HG01069.hp1 HG01071.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0006 a0001c0005t0005 a0001c0005t0006	a0001c0005t0005g0005 a0001c0005t0006g0077 a0001c0005t0005g0005 a0001c0005t0006g0077	7	367	0.0191	297	c.109 others(316): Show c.1097+1481_1097+1482insTTACACTAGCCCTGTTGGATAAGAGC CCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAA GAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGG ATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTG TTGGATAAGAGCCCTACACTAACCCTGTTGGATAAGAGCCCTACACTAGC CCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACAC TAGCCCTGTTGGATAAGAGCC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC16_chr13_114229897_114277723	114252109	A A	AGCCCTGT others(290): Show AGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTA CACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGC CCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAA GAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGG ATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTG TTGGATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02004.hp2 HG02040.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0052 a0001c0004t0003g0070 a0001c0004t0003g0071 a0001c0004t0003g0052 a0001c0004t0003g0070 a0001c0004t0003g0071	3	378	0.0079	297	c.109 others(316): Show c.1097+1562_1097+1563insCTACACTAGCCCTGTTGGATAAGAGC CCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAA GAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTGTTGG ATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTG TTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGC CCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACAC TAGCCCTGTTGGATAAGAGCC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC16_chr13_114229897_114277723	114252136	A A	AGCCCTGT others(290): Show AGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTA CACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGC CCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAA GAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTGGCCCTGTTGG ATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTG TTGGATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp1 HG02273.hp1 others(7): Show HG00642.hp1 HG01361.hp1 HG02273.hp1 HG02273.hp2 HG03834.hp2 NA18954.hp1 NA18991.hp1 NA18999.hp2 NA19074.hp1 NA19086.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0010 a0001c0004t0003g0030 a0001c0004t0003g0068 others(2): Show a0001c0004t0003g0010 a0001c0004t0003g0030 a0001c0004t0003g0068 a0001c0004t0003g0069 a0001c0004t0003g0072	10	378	0.0265	297	c.109 others(316): Show c.1097+1562_1097+1563insCTACACTAGCCCTGTTGGATAAGAGC CCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAA GAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTGTTGG ATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTG TTGGATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTAGC CCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACAC TAGCCCTGTTGGATAAGAGCC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC16_chr13_114229897_114277723	114252190	A A	AGCCCTGT others(290): Show AGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTA CACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGC CCTACACTAGCCCTGTTGGATAAGAGCCCTACACTGGCCCTGTTGGATAA GAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTGTTGG ATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTG TTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0073 a0001c0004t0003g0073	1	378	0.0026	297	c.109 others(316): Show c.1097+1562_1097+1563insCTACACTAGCCCTGTTGGATAAGAGC CCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAA GAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTGTTGG ATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTGGCCCTG TTGGATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACACTAGC CCTGTTGGATAAGAGCCCTACACTGGCCCTGTTGGATAAGAGCCCTACAC TAGCCCTGTTGGATAAGAGCC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CEP19_chr3_196701277_196717250	196703550	G G	GCAGCCCC others(290): Show GCAGCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCA TAATCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCC CAGCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCAT AATCAATTCCCATCCCCCGCCCCAGGCAGCCATAATCAATTCCCATCCGC AGCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCATA ATCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	311	0.0032	297	c.40 others(308): Show c.4000_*4001insGGGATGAGAATTGATTATGGCTGCCTGGGGCTGG GGATGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTAT GGCTGCCTGGGGCTGCGGATGGGAATTGATTATGGCTGCCTGGGGCGGGG GATGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTATG GCTGCCTGGGGCTGGGGATGAGAATTGATTATGGCTGCCTGGGGCTGGGG ATGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTATGG CTGCCTGGGGCTG	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2726		chr3	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCTGAGG others(290): Show CCCTGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02109.hp2 HG02486.hp1	a0008 a0044 a0008 a0044	a0008c0097 a0044c0102 a0008c0097 a0044c0102	a0008c0097t0001 a0044c0102t0002 a0008c0097t0001 a0044c0102t0002	a0008c0097t0001g0120 a0044c0102t0002g0019 a0008c0097t0001g0120 a0044c0102t0002g0019	2	172	0.0116	297	c.212 others(314): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914226	G G	GCCCGAGG others(290): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0027 a0027	a0027c0060 a0027c0060	a0027c0060t0001 a0027c0060t0001	a0027c0060t0001g0148 a0027c0060t0001g0148	1	239	0.0042	297	c.212 others(314): Show c.2121-969_2121-968insGCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGGCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATGTAATA others(290): Show ATGTAATATATAATATATATTATATATGTAATATATAATATATATGTAAT ATATATTATATATGTAATATATAATATATATTATATATGTAATATATATT ATATATGTAATATATAATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATATTATATATATAATATATATTATATATTATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATATATGTAATATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG02717.hp2 HG02809.hp2	a0002 a0010 a0002 a0010	a0002c0009 a0010c0020 a0002c0009 a0010c0020	a0002c0009t0001 a0010c0020t0002 a0002c0009t0001 a0010c0020t0002	a0002c0009t0001g0105 a0010c0020t0002g0123 a0002c0009t0001g0105 a0010c0020t0002g0123	2	175	0.0114	297	c.342 others(318): Show c.3423-21347_3423-21346insGTAATATATAATATATATTATATA TGTAATATATAATATATATGTAATATATATTATATATGTAATATATAATA TATATTATATATGTAATATATATTATATATGTAATATATAATATATGTAA TATATATTATATATATTATATATGTAATATATATTATATATATTATATAT ATAATATATATTATATATTATATATGTAATATATATTATATATGTAATAT ATGTAATATATATTATATATGTAATATATGTAATATATATATATGTAATA TATGTAATATATATTATATATGT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357749	C C	CACTGAGG others(290): Show CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	44	0.0227	297	c.351 others(316): Show c.3514-2460_3514-2459insCTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHCHD3_chr7_132779870_133087090	132803341	C C	CAAGAAAA others(290): Show CAAGAAAAGCATCGTTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAG GAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	308	0.0032	297	c.525 others(314): Show c.525-6765_525-6764insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAACGATGCTTTTCTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	TATATATA others(290): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCTATACATGTGTGTATATAC ACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATAT ACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	240	0.0042	297	c.894 others(312): Show c.894+673_894+674insGTGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACGT ATATGAGTATATATACGTGTATATACACACATGTATAGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLCN5_chrX_49917596_50104230	50022388	T T	TAGCGGTC others(290): Show TAGCGGTCTATCAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG03195.hp2 others(4): Show HG02622.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0010 a0001c0001t0022 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0022 a0001c0003t0003	a0001c0001t0004g0137 a0001c0001t0010g0019 a0001c0001t0010g0020 others(4): Show a0001c0001t0004g0137 a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0001t0022g0136 a0001c0003t0003g0018 a0001c0003t0003g0162 a0001c0003t0003g0163	7	167	0.0419	297	c.17- others(314): Show c.17-19911_17-19910insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATC ACAGCGGTCTATCAATTTT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL9A3_chr20_62812050_62846159	62825188	T T	TGGGCTCC others(290): Show TGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGGCTGGGCTCC GGCGGGAGGGAGGGGGGCTGGGCTCCGGCGGGGAGGGGGAGGGGGCTG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	410	0.0024	297	c.630 others(312): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGGCT GGGCTCCGGCGGGAGGGAGGGGGGCTGGGCTCCGGCGGGGAGGGGGAGGG GGCTGGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(290): Show CACCCCCCACCACAGTCCCCACCCCCCACCCCAGTCCCCAAACCCCTACC ACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCCA ACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCAC AGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCAA CCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCACA GTCCGCCAACCCCCACGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	259	0.0039	297	c.128 others(312): Show c.1287+69_1287+70insCACCACAGTCCCCACCCCCCACCCCAGTCC CCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTA CCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCC CCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCAC CACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCC CACCCCCACCACAGTCCGCCAACCCCCACGACAGTCCCCCAACCCCCACC ACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(290): Show CACCCCCCACCACATCCCCCACCCCCCACCCCAGTCCCCAAACCCCTACC ACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCCA ACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCAC AGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCAA CCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCACA GTCCGCCAACCCCCACGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0002 a0001c0045t0002	a0001c0045t0002g0155 a0001c0045t0002g0155	1	259	0.0039	297	c.128 others(312): Show c.1287+69_1287+70insCACCACATCCCCCACCCCCCACCCCAGTCC CCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTA CCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCC CCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCAC CACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCC CACCCCCACCACAGTCCGCCAACCCCCACGACAGTCCCCCAACCCCCACC ACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CPNE4_chr3_131528569_132040014	131978109	A A	ATATTTAT others(290): Show ATATTTATATAAATATATATAAAATATATAAAAATATATATATTTATATA TATTTATATATATATTTTATATATATTTATATATATTTATTTATATTTAT ATATATATTTTATATATATTTATATATATTTATATTTATATATATATTTT TATATATATTTATATATATATTTTTATATATTTATATAGATATTTTTATA TATTTATATATTTATATATATATATTTTTATATAATTTATATATATTTAT ATATATATATTTATATATATATTTATATATATATATTTATATATATTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	90	0.0111	297	c.-2+ others(314): Show c.-2+56457_-2+56458insAAATATATATAAATATATATATATAAAT ATATATATAAATATATATATATAAATATATATAAATTATATAAAAATATA TATATATAAATATATAAATATATAAAAATATCTATATAAATATATAAAAA TATATATATAAATATATATAAAAATATATATATAAATATAAATATATATA AATATATATAAAATATATATATAAATATAAATAAATATATATAAATATAT ATAAAATATATATATAAATATATATAAATATATATATTTTTATATATTTT ATATATATTTATATAAATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(290): Show TCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCC CACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCA TCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATC CATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0012 a0005c0014t0001g0012	1	226	0.0044	297	c.13 others(308): Show c.1315_*1316insCTGTCCACCCATCCGTCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCC GTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCC ATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGT CCACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(290): Show TCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCC CACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCA TCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATC CGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	226	0.0044	297	c.13 others(308): Show c.1315_*1316insCTGTCCACCCATCCGTCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCC GTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCC ATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGT CCACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(290): Show TCTGTCCACCCATCCGTCCACCCATCCATCCACCCATTCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCC CACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCA TCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATC CGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 NA18942.hp1 HG04199.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0198 a0001c0001t0001g0058 a0001c0001t0001g0198	2	227	0.0088	297	c.13 others(308): Show c.1315_*1316insCTGTCCACCCATCCGTCCACCCATCCATCCACCC ATTCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCC GTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCC ATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGT CCACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923725	A A	AACCCAGC others(290): Show AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTAACCCGGC CCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02027.hp1 HG02300.hp2 others(2): Show HG01952.hp2 HG02027.hp1 HG02300.hp2 NA18954.hp1 NA18965.hp1	a0004 a0007 a0010 others(1): Show a0004 a0007 a0010 a0033	a0004c0050 a0007c0007 a0010c0010 others(1): Show a0004c0050 a0007c0007 a0010c0010 a0033c0049	a0004c0050t0003 a0007c0007t0001 a0010c0010t0001 others(1): Show a0004c0050t0003 a0007c0007t0001 a0010c0010t0001 a0033c0049t0001	a0004c0050t0003g0210 a0007c0007t0001g0192 a0010c0010t0001g0203 others(2): Show a0004c0050t0003g0210 a0007c0007t0001g0192 a0010c0010t0001g0203 a0010c0010t0001g0226 a0033c0049t0001g0200	5	340	0.0147	297	c.488 others(314): Show c.488+1084_488+1085insAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923725	A A	AACCCAGC others(290): Show AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTAACCCGGC CCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0060 a0060	a0060c0047 a0060c0047	a0060c0047t0001 a0060c0047t0001	a0060c0047t0001g0188 a0060c0047t0001g0188	1	336	0.0030	297	c.488 others(314): Show c.488+1084_488+1085insAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTAACCCAGTCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(290): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04184.hp1 NA18970.hp2 HG03942.hp1 HG04184.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0001g0132 a0001c0001t0002g0284 a0001c0001t0002g0286	3	275	0.0109	297	c.-27 others(318): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATA others(290): Show ATTATATATTATATATATTATATAATATATATAATATATATATAATATAT AATATATATTATATATTATATATATTATATAATATATATAATATATATAA TATATAATATATAATATATTATTATATATATTATAAATTATATAATATAT ATAATATATATATTATATATAATATATTATATATTATATTATATATAATA TATATAATATATAATATATTATATATAATATATTATATATTATATAATAT ATATATAATATATAATATATAATATATATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01952.hp1 HG01169.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	165	0.0121	297	c.36 others(308): Show c.3665_*3666insATTATATATTATATATAATATATATATTATATAT TATATATTATATATATATTATATAATATATAATATATTATATATAATATA TTATATATTATATATATTATATATAATATAATATATAATATATTATATAT AATATATATATTATATATATTATATAATTTATAATATATATAATAATATA TTATATATTATATATTATATATATTATATATATTATATAATATATATAAT ATATAATATATATTATATATTATATATATATTATATATATTATATAATAT ATATAATATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar
DAPK1_chr9_87492867_87713634	87651914	G G	GGGTCCTG others(290): Show GGGTCCTGATTCTGTGTCCTCCCACCTGATCCCGGGTCCTGATTCTGTGT TCTCTCACCTGAACCCGGGTCCTGATTCTGTGTCCATCCCCCCGATCCTG GGTCCTGATTCTGTGTCCATTCCCCCGATCCTGGGTCCTGATTCTGTGTC CTCCCACCTGATCCCAGGTCCTGATTCTGTGTCCATCCCCCCGATCCCGG GTCCTGATTCTGTGTCCTCCCACCTGATCCCAGGTCCTGATTCTGTGTCC ATCCCCCCGATCCCGGGTCCTGATTCTGTGTCCTCCCACCTGATCCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp2 NA19240.hp2 HG02630.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0010 a0001c0019 a0001c0010 a0001c0019	a0001c0010t0001 a0001c0019t0001 a0001c0010t0001 a0001c0019t0001	a0001c0010t0001g0226 a0001c0010t0001g0231 a0001c0019t0001g0005 a0001c0010t0001g0226 a0001c0010t0001g0231 a0001c0019t0001g0005	3	234	0.0128	297	c.182 others(314): Show c.1824+239_1824+240insTCTCTCACCTGAACCCGGGTCCTGATTC TGTGTCCATCCCCCCGATCCTGGGTCCTGATTCTGTGTCCATTCCCCCGA TCCTGGGTCCTGATTCTGTGTCCTCCCACCTGATCCCAGGTCCTGATTCT GTGTCCATCCCCCCGATCCCGGGTCCTGATTCTGTGTCCTCCCACCTGAT CCCAGGTCCTGATTCTGTGTCCATCCCCCCGATCCCGGGTCCTGATTCTG TGTCCTCCCACCTGATCCCAGGTCCTGATTCTGTGTCCTCCCACCTGATC CCGGGTCCTGATTCTGTGT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCDC1_chr11_30858603_31374739	30977202	T T	TGAACAGA others(290): Show TGAACAGAGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATATCCTGGCCTTGTGATCCGCCCGCCTCGGCCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0024 a0024	a0024c0019 a0024c0019	a0024c0019t0002 a0024c0019t0002	a0024c0019t0002g0018 a0024c0019t0002g0018	1	150	0.0067	297	c.259 others(318): Show c.2592-24635_2592-24634insGGGAGGCCGAGGCGGGCGGATCAC AAGGCCAGGATATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAAAGCTCTGTTC	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	20/38			chr11	TogoVar
DDR2_chr1_162627464_162792405	162727099	A A	AAAATATA others(290): Show AAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATAT TTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTT ATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATAT ATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAAC ATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATAT AAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03130.hp2 HG03834.hp2 others(6): Show HG02896.hp1 HG03130.hp2 HG03834.hp2 HG04184.hp1 NA18949.hp2 NA18960.hp2 NA18974.hp1 NA19009.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0022 a0001c0002t0034 a0001c0002t0001 a0001c0002t0022 a0001c0002t0034	a0001c0002t0001g0039 a0001c0002t0001g0169 a0001c0002t0001g0181 others(6): Show a0001c0002t0001g0039 a0001c0002t0001g0169 a0001c0002t0001g0181 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0225 a0001c0002t0001g0250 a0001c0002t0022g0171 a0001c0002t0034g0218	9	99	0.0909	297	c.82+ others(312): Show c.82+8125_82+8126insCATATATTTATATTTTGTAAATATAAACAT ATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAA ACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAAT ATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGT AAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATT TTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTA TATTTTGTAAATATAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162727215	A A	AACATATA others(290): Show AACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAA TATAGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTG TAAATATAGACATATATTTATATTTTGTAAATATAGACATATATTTATAT TTTGTAAATATAGACATATATTTATATTTTGTAAATATAGACATATATTT ATATTTTGTAAATATAGACATATATTTATATTTTGTAAATATAGACATAT ATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAATATAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0204	1	298	0.0034	297	c.82+ others(312): Show c.82+8096_82+8097insGACATATATTTATATTTTGTAAATATAGAC ATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAATAT AGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAA ATATAGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTT GTAAATATAGACATATATTTATATTTTGTAAATATAGACATATATTTATA TTTTGTAAATATAGACATATATTTATATTTTGTAAATATAGACATATATT TATATTTTGTAAATATA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162727242	A A	AACATATA others(290): Show AACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAA TATAAACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTG TAAATATAGACATATATTTATATTTTGTAAATATAGACATATATTTATAT TTTGTAAATATAGACATATATTTATATTTTGTAAATATAGACATATATTT ATATTTTGTAAATATAGACATATATTTATATTTTGTAAATATAGACATAT ATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAATATAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA21309.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0043 a0001c0001t0004g0044	2	285	0.0070	297	c.82+ others(312): Show c.82+8125_82+8126insCATATATTTATATTTTGTAAATATAAACAT ATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAATATAG ACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAAT ATAGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGT AAATATAGACATATATTTATATTTTGTAAATATAGACATATATTTATATT TTGTAAATATAGACATATATTTATATTTTGTAAATATAGACATATATTTA TATTTTGTAAATATAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(290): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	307	0.0033	297	c.-42 others(308): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DGKE_chr17_56829151_56874567	56870208	T T	TAAGAAAT others(290): Show TAAGAAATGATTTGACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCG GGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAA ACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGC GCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02630.hp1 HG02965.hp2 HG02080.hp1 HG02630.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0005 a0001c0001 a0001c0009 a0002c0005	a0001c0001t0001 a0001c0009t0036 a0002c0005t0007 a0001c0001t0001 a0001c0009t0036 a0002c0005t0007	a0001c0001t0001g0026 a0001c0009t0036g0135 a0002c0005t0007g0016 a0001c0001t0001g0026 a0001c0009t0036g0135 a0002c0005t0007g0016	3	116	0.0259	297	c.74 others(308): Show c.7417_*7418insAAGAAATGATTTGACGCCTGTAATCCCAGCACTT TGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAA	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		642		chr17	TogoVar
DIP2C_chr10_269201_694668	478166	G G	GGAGAGGG others(290): Show GGAGAGGGGAGAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGAGAAGAG GGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGAGAAGAAGGGAGGGGAGGGGAGAAGAGGGGAG GGGAGAAGAAGGGAGGGGAGGGGAGGGAGAAGAAGGGAGGGGAGAAGAAG GGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAGGGGAGG GGAGAAGAAGGGAGGGGAGGGAGAAGAGGGGAGGGGAGGGGAGAAGAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0076 a0001c0007t0002g0076	1	80	0.0125	297	c.158 others(314): Show c.158-5618_158-5617insTTCTTCTCCCCTCCCCTCCCCTCTTCTC CCTCCCCTCCCTTCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCTTCT TCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCTCCC CTCCCCTCCCTTCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCTTCTT CTCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCCTCCCCTCCCCTCCC TCCCCTCCCCTCCCCTCCCCCTCTTCTCCCTCCCCTCCCCTCTTCTCCCC TCCCCTCTTCTCCCCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522772	A A	ACCCAGCC others(290): Show ACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGC CCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	327	0.0031	297	c.236 others(316): Show c.2363-1160_2363-1159insACCCAGCCAGGGCCCAGCCAGGGCCC AGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAG GGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGG CCCAGCGAGAGCCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522827	G G	GCCCAGCC others(290): Show GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCTCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0008 a0001c0021t0008	a0001c0021t0008g0209 a0001c0021t0008g0209	1	324	0.0031	297	c.236 others(316): Show c.2363-1106_2363-1105insAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCA GGACCCAGCCAAGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCTCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCGAGAGCCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGA GCCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLG2_chr11_83450173_85632344	83949412	T T	TAAGAATT others(290): Show TAAGAATTGTTGCTCCTCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	13	0.0769	297	c.134 others(318): Show c.1340+13472_1340+13473insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGAGGAGCAACAATTCTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	14/27			chr11	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(290): Show ATATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATACGTGTATAT ATATACACGTATATATATATACGTGTGTATATATACACATATATATACAC ATATATATATATACACATATATATATACACATATATATATATACACATAT ATATATATACACATATATATATACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0105 a0004c0004t0001g0105	1	82	0.0122	297	c.730 others(316): Show c.7305+1447_7305+1448insATATATATATATATATATATGTGTGT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATGTGTATATATATATATGTGTATATATATGTGTATATATACACAC GTATATATATATACGTGTATATATATACACGTATATATATATACGTATAT ATATATGTATATATATGTATATATATATGTATGTGTATATATGTATATGT ATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTATAT ATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(290): Show CTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	161	0.0062	297	c.-10 others(316): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556316	A A	AGTATATA others(290): Show AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATATA TATATAGTATATATATAGTGTATATAGTATATATATAGTATATATATAGT GTATATAGTATATATATAGTATATATATAGTGTATATAGTATATATATGT ATATATATATAGTATATATATAGTATATATATATAGTATATATATAGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0186 a0001c0002t0006g0186	1	297	0.0034	297	c.355 others(316): Show c.355-25653_355-25652insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATATAGTGTATATATATATAGTATATATATAGTGTATATAG TATATATATAGTATATATATAGTGTATATAGTATATATATAGTATATATA TAGTGTATATAGTATATATATGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(290): Show ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTAT ATATATAGTATATATATAGTATATATAGTATATATGTATATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATAGTATATATATACTATATATATAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0285 a0001c0003t0001g0285	1	172	0.0058	297	c.355 others(316): Show c.355-25607_355-25606insGTATATATATAGTATATATATATAGT ATATATATAGTATATATATATAGTGTATATATATAGTATATATATATAGT GTATATATATAGTATATATATAGTATATATATAGTATATATAGTATATAT GTATATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATATAGTATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATAT ACTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATGTTGTA others(290): Show ATGTTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATATA CCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATG TTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATA TGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTA TGTGTATGTTTACACATATATGTGTAAATATACCTGTGTGTATGTTTACA CATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02109.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0129 a0001c0001t0018g0135 a0001c0001t0018g0129 a0001c0001t0018g0135	2	273	0.0073	297	c.477 others(316): Show c.477+47592_477+47593insTGTAAATATACCTATGTGTATATTTA CACATATATATGTAAATATACCTATGTGTATGTTTACACATATATATGTG TAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTA TGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGTTTACACA TATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATA TACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTA TGTTTACACATATATATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(290): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	376	0.0027	297	c.83+ others(310): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(290): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02080.hp1 HG02083.hp2 others(8): Show HG00597.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 NA18950.hp1 NA18993.hp2 NA19010.hp2 NA19065.hp1 NA19070.hp1 NA19083.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0062 a0001c0003 a0002c0062	a0001c0003t0002 a0002c0062t0001 a0001c0003t0002 a0002c0062t0001	a0001c0003t0002g0004 a0001c0003t0002g0008 a0001c0003t0002g0010 others(8): Show a0001c0003t0002g0004 a0001c0003t0002g0008 a0001c0003t0002g0010 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0019 a0001c0003t0002g0020 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0126 a0002c0062t0001g0012	11	84	0.1310	297	c.282 others(316): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(290): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0011 a0001c0003t0002g0011	1	74	0.0135	297	c.282 others(316): Show c.2827+3976_2827+3977insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTG TATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(290): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGT ATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02451.hp2 HG02622.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0167 a0004c0017t0001g0175 a0004c0017t0001g0167 a0004c0017t0001g0175	2	142	0.0141	297	c.282 others(316): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATA CAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTG TATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
FCHO2_chr5_72951041_73095522	73037315	C C	CAAAAGTA others(290): Show CAAAAGTATATGTGTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0280 a0001c0003t0003g0280	1	231	0.0043	297	c.914 others(312): Show c.914+114_914+115insCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAGTATATGTGT	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(290): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01517.hp2 HG01978.hp1 others(1): Show HG01361.hp1 HG01517.hp2 HG01978.hp1 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0001 a0002c0002t0002 a0001c0001t0002 a0001c0003t0001 a0002c0002t0002	a0001c0001t0002g0304 a0001c0003t0001g0296 a0001c0003t0001g0303 others(1): Show a0001c0001t0002g0304 a0001c0003t0001g0296 a0001c0003t0001g0303 a0002c0002t0002g0088	4	263	0.0152	297	c.189 others(316): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar

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