Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(349): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	408	0.0025	356	c.53+ others(371): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
YTHDC1_chr4_68305387_68355090	68327955	T T	TAAAATAA others(349): Show TAAAATAATAAAAGCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	387	0.0026	356	c.134 others(375): Show c.1349+2046_1349+2047insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGTGCTTTTATTATTTT	YTHDC1	ENSG00000083896.13	transcript	ENST00000344157.9	protein_coding	9/16			chr4	TogoVar
ZC3H12B_chrX_65029826_65512887	65450477	G G	GTATATAT others(349): Show GTATATATGTATATATGTATATATATACATGTATACATATGTATATATGT ATACATATGTATATATGTATATATGTATAAATATACATATGTATATATAT GTATATATGTATACATATGTATATATACATATGTATATATATGTATATAT GTATACATATGTATATATACATATGTATATATATGTATATATGCATATAT ACATATGTATATATATGTATATATGTATACATATGTATATATATGTATAT ATGTATACATATGTATATATATGTATATATGCATATATATACATATGTAT ATATGCATATATATACATATGTATATATGCATATATATACATATGTGTAT ATATGTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0140 a0001c0001t0015g0140	1	165	0.0061	356	c.-15 others(377): Show c.-156-38164_-156-38163insATGTATATATGTATATATATACAT GTATACATATGTATATATGTATACATATGTATATATGTATATATGTATAA ATATACATATGTATATATATGTATATATGTATACATATGTATATATACAT ATGTATATATATGTATATATGTATACATATGTATATATACATATGTATAT ATATGTATATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATATGTATATATGTATACATATGTATATATATGTATATAT GCATATATATACATATGTATATATGCATATATATACATATGTATATATGC ATATATATACATATGTGTATATATGTATATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450519	G G	GTATATAT others(349): Show GTATATATATGTATATATGTATATATACATATGTATATATATGTACATAT GTATATATATACATGTATACATATGTATACATGTATATATATACATATGT ATACATGTATATATGTATATATATACATGTATACATATGTATATATGTAT ACATATGTATATATGTATATATGTATAAATATACATATGTATATATATGT ATATATGTATACATATGTATATATACATATGTATATATATGTATATATGT ATACATATGTATATATACATATGTATATATATGTATACATATGCATATAT ACATATGTATATATATGTATATATGTATACATATGTATATATGCATATAT ATACATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	165	0.0061	356	c.-15 others(377): Show c.-156-38126_-156-38125insATATATATGTATATATGTATATAT ACATATGTATATATATGTACATATGTATATATATACATGTATACATATGT ATACATGTATATATATACATATGTATACATGTATATATGTATATATATAC ATGTATACATATGTATATATGTATACATATGTATATATGTATATATGTAT AAATATACATATGTATATATATGTATATATGTATACATATGTATATATAC ATATGTATATATATGTATATATGTATACATATGTATATATACATATGTAT ATATATGTATACATATGCATATATACATATGTATATATATGTATATATGT ATACATATGTATATATGCATATATATACATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZFPM1_chr16_88448280_88542031	88501492	C C	CATCCCGC others(349): Show CATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGG CCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGTCATGGGTGCGGGG CCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCATGG GCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGCCTGGGTGCGGG GGCCCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTGGATGCGG GGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCGGGCCTGGGTGCG GGGGCCCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTGGGTGC GGGGGCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0026 a0026	a0026c0070 a0026c0070	a0026c0070t0028 a0026c0070t0028	a0026c0070t0028g0310 a0026c0070t0028g0310	1	318	0.0031	356	c.268 others(375): Show c.268+12339_268+12340insATCCCGCAGGTGCTGGTGATGATGGA GATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGG AGATAGCGGTCATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATGG AGATAGCGGGTGTGGGTGCATGGGCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTACTGGTGATGAT GGAGATAGTGGGCCTGGATGCGGGGGCCCTCCCGCAGGTGCTGGTGATGA TAGAGATAGCGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTACTGGTGATG ATGGAGATAGTGGGCCTGGGTGCGGGGGCT	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9			chr16	TogoVar
ZNF525_chr19_53360705_53391590	53391193	A A	AAGTGTTA others(349): Show AAGTGTTACAGCTCTTAAAGGTGGCACATCTGAAGTTGTTTGTTTCTCCC AGTGGGTTCGTGGTCTTGCTGACTTCAGGAGTGAAGCCGCAGACCTTCGC AGTGAGTGTTACAGCTCTTGAAACTGTCGCGTCTGGGGTTGTTTTTTCCT CCTGGTGTGTTCCTGGTCTCGCTGACTTCAGGAGTGAAGCTGCAGACCTT CGCAGTGAGTGTTACAGCTCATAGAGGTTGTGCGGGCCCAAAGAGGGAGC AGCAGCAAGACTCATTGTGAAAAGCGAAAGAACAAAGCTTCCACAGCGCG GAAGGAGACCTGAGCAGATTGCCGCTGCTGGCTCCGATGGCCAGCTTTTA TTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0102 a0001c0001t0055g0102	1	442	0.0023	356	c.91 others(367): Show c.9174_*9175insAGTGTTACAGCTCTTAAAGGTGGCACATCTGAAG TTGTTTGTTTCTCCCAGTGGGTTCGTGGTCTTGCTGACTTCAGGAGTGAA GCCGCAGACCTTCGCAGTGAGTGTTACAGCTCTTGAAACTGTCGCGTCTG GGGTTGTTTTTTCCTCCTGGTGTGTTCCTGGTCTCGCTGACTTCAGGAGT GAAGCTGCAGACCTTCGCAGTGAGTGTTACAGCTCATAGAGGTTGTGCGG GCCCAAAGAGGGAGCAGCAGCAAGACTCATTGTGAAAAGCGAAAGAACAA AGCTTCCACAGCGCGGAAGGAGACCTGAGCAGATTGCCGCTGCTGGCTCC GATGGCCAGCTTTTATTCCCTT	ZNF525	ENSG00000203326.12	transcript	ENST00000474037.6	protein_coding		4604		chr19	TogoVar
ZNF525_chr19_53360705_53391590	53391193	A A	AAGTGTTA others(349): Show AAGTGTTACAGCTCTTAAAGGTGGCACGTCTGAAGTTGTTTGTTTCTCCC AGTGGGTTCGTGGTCTTGCTGACTTCAGGAGTGAAGTCGCAGACCTTCGC AGTGAGTGTTACAGCTCTTGAAACTGTCGCGTCTGGGGTTGTTTTTTCCT CCTGGTGTGTTCGTGGTCTCGCTGACTTCAGGAGTGAAGCCGCAGACCTT CGCAGTGAGTGTTACAGCTCATAGAGGTTGTGCGGGCCCAAAGAGGGAGC AGCAGCAAGACTCATTGTGAAAAGCGAAAGAACAAAGCTTCCACAGCGCG GAAGGAGACCTGAGCAGATTGCCGCTGCTGGCTCCGATGGCCAGCTTTTA TTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG01256.hp2 others(27): Show HG00639.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG02257.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03927.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0011 a0002c0002t0006 others(6): Show a0001c0001t0005 a0001c0001t0011 a0002c0002t0006 a0002c0002t0019 a0002c0002t0020 a0002c0002t0049 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059	a0001c0001t0005g0097 a0001c0001t0011g0208 a0001c0001t0011g0209 others(21): Show a0001c0001t0005g0097 a0001c0001t0011g0208 a0001c0001t0011g0209 a0002c0002t0006g0019 a0002c0002t0006g0033 a0002c0002t0006g0058 a0002c0002t0006g0059 a0002c0002t0006g0212 a0002c0002t0006g0222 a0002c0002t0006g0224 a0002c0002t0006g0251 a0002c0002t0006g0253 a0002c0002t0006g0254 a0002c0002t0006g0256 a0002c0002t0006g0284 a0002c0002t0019g0020 a0002c0002t0019g0173 a0002c0002t0020g0031 a0002c0002t0020g0078 a0002c0002t0020g0079 a0002c0002t0049g0252 a0002c0002t0057g0033 a0002c0002t0058g0088 a0002c0002t0059g0100	30	442	0.0679	356	c.91 others(367): Show c.9174_*9175insAGTGTTACAGCTCTTAAAGGTGGCACGTCTGAAG TTGTTTGTTTCTCCCAGTGGGTTCGTGGTCTTGCTGACTTCAGGAGTGAA GTCGCAGACCTTCGCAGTGAGTGTTACAGCTCTTGAAACTGTCGCGTCTG GGGTTGTTTTTTCCTCCTGGTGTGTTCGTGGTCTCGCTGACTTCAGGAGT GAAGCCGCAGACCTTCGCAGTGAGTGTTACAGCTCATAGAGGTTGTGCGG GCCCAAAGAGGGAGCAGCAGCAAGACTCATTGTGAAAAGCGAAAGAACAA AGCTTCCACAGCGCGGAAGGAGACCTGAGCAGATTGCCGCTGCTGGCTCC GATGGCCAGCTTTTATTCCCTT	ZNF525	ENSG00000203326.12	transcript	ENST00000474037.6	protein_coding		4604		chr19	TogoVar
ZNF765_chr19_53390149_53417009	53391193	A A	AAGTGTTA others(349): Show AAGTGTTACAGCTCTTAAAGGTGGCACATCTGAAGTTGTTTGTTTCTCCC AGTGGGTTCGTGGTCTTGCTGACTTCAGGAGTGAAGCCGCAGACCTTCGC AGTGAGTGTTACAGCTCTTGAAACTGTCGCGTCTGGGGTTGTTTTTTCCT CCTGGTGTGTTCCTGGTCTCGCTGACTTCAGGAGTGAAGCTGCAGACCTT CGCAGTGAGTGTTACAGCTCATAGAGGTTGTGCGGGCCCAAAGAGGGAGC AGCAGCAAGACTCATTGTGAAAAGCGAAAGAACAAAGCTTCCACAGCGCG GAAGGAGACCTGAGCAGATTGCCGCTGCTGGCTCCGATGGCCAGCTTTTA TTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0035 a0004c0007t0035	a0004c0007t0035g0158 a0004c0007t0035g0158	1	448	0.0022	356	c.-40 others(367): Show c.-4074_-4073insAGTGTTACAGCTCTTAAAGGTGGCACATCTGAAG TTGTTTGTTTCTCCCAGTGGGTTCGTGGTCTTGCTGACTTCAGGAGTGAA GCCGCAGACCTTCGCAGTGAGTGTTACAGCTCTTGAAACTGTCGCGTCTG GGGTTGTTTTTTCCTCCTGGTGTGTTCCTGGTCTCGCTGACTTCAGGAGT GAAGCTGCAGACCTTCGCAGTGAGTGTTACAGCTCATAGAGGTTGTGCGG GCCCAAAGAGGGAGCAGCAGCAAGACTCATTGTGAAAAGCGAAAGAACAA AGCTTCCACAGCGCGGAAGGAGACCTGAGCAGATTGCCGCTGCTGGCTCC GATGGCCAGCTTTTATTCCCTT	ZNF765	ENSG00000196417.13	transcript	ENST00000396408.8	protein_coding		3955		chr19	TogoVar
ZNF765_chr19_53390149_53417009	53391193	A A	AAGTGTTA others(349): Show AAGTGTTACAGCTCTTAAAGGTGGCACGTCTGAAGTTGTTTGTTTCTCCC AGTGGGTTCGTGGTCTTGCTGACTTCAGGAGTGAAGTCGCAGACCTTCGC AGTGAGTGTTACAGCTCTTGAAACTGTCGCGTCTGGGGTTGTTTTTTCCT CCTGGTGTGTTCGTGGTCTCGCTGACTTCAGGAGTGAAGCCGCAGACCTT CGCAGTGAGTGTTACAGCTCATAGAGGTTGTGCGGGCCCAAAGAGGGAGC AGCAGCAAGACTCATTGTGAAAAGCGAAAGAACAAAGCTTCCACAGCGCG GAAGGAGACCTGAGCAGATTGCCGCTGCTGGCTCCGATGGCCAGCTTTTA TTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG01256.hp2 others(25): Show HG00639.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02257.hp1 HG02280.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03669.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0006 a0004c0007 a0005c0008	a0001c0001t0003 a0001c0001t0018 a0001c0003t0001 others(9): Show a0001c0001t0003 a0001c0001t0018 a0001c0003t0001 a0001c0005t0010 a0001c0005t0038 a0002c0002t0005 a0002c0002t0043 a0003c0006t0015 a0003c0006t0049 a0003c0006t0050 a0004c0007t0021 a0005c0008t0003	a0001c0001t0003g0026 a0001c0001t0003g0289 a0001c0001t0003g0294 others(23): Show a0001c0001t0003g0026 a0001c0001t0003g0289 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0301 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0018g0304 a0001c0001t0018g0305 a0001c0001t0018g0306 a0001c0003t0001g0290 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0005t0010g0299 a0001c0005t0010g0300 a0001c0005t0038g0298 a0002c0002t0005g0293 a0002c0002t0043g0296 a0003c0006t0015g0010 a0003c0006t0015g0043 a0003c0006t0015g0044 a0003c0006t0049g0041 a0003c0006t0050g0042 a0004c0007t0021g0297 a0005c0008t0003g0291 a0005c0008t0003g0292	28	448	0.0625	356	c.-40 others(367): Show c.-4074_-4073insAGTGTTACAGCTCTTAAAGGTGGCACGTCTGAAG TTGTTTGTTTCTCCCAGTGGGTTCGTGGTCTTGCTGACTTCAGGAGTGAA GTCGCAGACCTTCGCAGTGAGTGTTACAGCTCTTGAAACTGTCGCGTCTG GGGTTGTTTTTTCCTCCTGGTGTGTTCGTGGTCTCGCTGACTTCAGGAGT GAAGCCGCAGACCTTCGCAGTGAGTGTTACAGCTCATAGAGGTTGTGCGG GCCCAAAGAGGGAGCAGCAGCAAGACTCATTGTGAAAAGCGAAAGAACAA AGCTTCCACAGCGCGGAAGGAGACCTGAGCAGATTGCCGCTGCTGGCTCC GATGGCCAGCTTTTATTCCCTT	ZNF765	ENSG00000196417.13	transcript	ENST00000396408.8	protein_coding		3955		chr19	TogoVar
ZNF778_chr16_89212703_89242141	89224967	T T	TAAGATGC others(349): Show TAAGATGCATTCTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0174 a0001c0001t0083g0174	1	434	0.0023	356	c.328 others(371): Show c.328+179_328+180insGCCGGGCACGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGATGCATTCTGG	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZSCAN22_chr19_58321994_58347332	58326617	T T	TCTCACAC others(349): Show TCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCT CACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGC CGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCAC CCTCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGCC CTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTC ACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACA CAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCAAC CCCATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	400	0.0025	356	c.-54 others(365): Show c.-549_-548insCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCC TCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCA GCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCT CTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACA GGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGC ACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCAC CCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCC TCACACAGCCAACCCCATCC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		376		chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326637	C C	CCCTCACA others(349): Show CCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCCT CACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGC ACCCTCAGCCCTCAGCCCTCACACAGCCGCCCTCACCCTCACCCTCACAC AGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCC TCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAG CCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCTCACACA GCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCA CCCTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0133 a0001c0001t0007g0133	1	400	0.0025	356	c.-52 others(365): Show c.-529_-528insCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAG GCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAG CTCTCACACAGGCACCCTCAGCCCTCAGCCCTCACACAGCCGCCCTCACC CTCACCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCT CACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACA CAGGCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCC TCAGCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAG CCTCACACAGGCACCCTCAG	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		356		chr19	TogoVar
ADAM8_chr10_133257423_133281868	133265181	C C	CGCCCAGC others(350): Show CGCCCAGCTCCTGCTGCAGCCTCTGCCCCACCTACCTCCACGCCCGGCTC CTGCTGCAGCCTCTGCCCCATCTACCTCCACGCCTGTTCCTGCTGCAGCC TCTGCCCCATCTACCTCCATGCCCAGCTCCTGCTGCAGCCTCTGCCCCAT CTACCTCCACGCGCAGCTCCTGCTGCAGCCTCTGCCCCATCTACCTCCAC GCCTGTTCCTGCTGCAGCCTCTGCCCCATCTACCTCCACGCCCGGCTCCT GCTGCAGCCTCTGCCCCATCTACCTCCACGCCCAGCTCCTGCTGCAGCCT CTGCCCCATCTACCTCCACGCCTGTTCCTGCTGCAGCCTCTGCCCCATCT ACCTCCAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	386	0.0026	357	c.232 others(376): Show c.2320-1417_2320-1416insATGGAGGTAGATGGGGCAGAGGCTGC AGCAGGAACAGGCGTGGAGGTAGATGGGGCAGAGGCTGCAGCAGGAGCTG GGCGTGGAGGTAGATGGGGCAGAGGCTGCAGCAGGAGCCGGGCGTGGAGG TAGATGGGGCAGAGGCTGCAGCAGGAACAGGCGTGGAGGTAGATGGGGCA GAGGCTGCAGCAGGAGCTGCGCGTGGAGGTAGATGGGGCAGAGGCTGCAG CAGGAGCTGGGCATGGAGGTAGATGGGGCAGAGGCTGCAGCAGGAACAGG CGTGGAGGTAGATGGGGCAGAGGCTGCAGCAGGAGCCGGGCGTGGAGGTA GGTGGGGCAGAGGCTGCAGCAGGAGCTGGGC	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding	21/22			chr10	TogoVar
ADAM9_chr8_38991973_39110261	38998778	T T	TGAAAGAA others(350): Show TGAAAGAACATGACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03017.hp2 HG02040.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0025 a0001c0001t0001g0026	2	332	0.0060	357	c.97+ others(372): Show c.97+1633_97+1634insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAAGAACATGACTT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS2_chr5_179105853_179350461	179277961	A A	AAGACCAA others(350): Show AAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACCGCCCCCGAGA CCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCA AAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCT GACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCCCCGAGACCAAAGG CTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCT GACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGAC CCCCCGCG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0196 a0001c0004t0004g0196	1	276	0.0036	357	c.535 others(374): Show c.535-4898_535-4897insCGCGGGGGGTCAGCCTTTGGTCTCGGGG GGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGG GGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGG GGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGG GTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTC AGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTT TGGTCTCGGAGGGGGTCAGCCTTTGGTCT	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADGRD1_chr12_130948907_131146469	131029626	C C	CGTCGTAG others(350): Show CGTCGTAGGTGACATTCCCAGGCTCTGGGGTTAGGTTGTGGACCTGTCGT AGGTGACATTCCCAGGCTCTGGGGTTAGGTTGTGGACCCCTTGTTCGGTG ACATTCCCAGGCTCTGGGGTTAGGTTGTGGACCCGTCGTAGGTGACATTT CCAGGCTCTGGGGTTAGGTTATGGACCCCTCGTATGGTGACATTCCCAGG CTCTGGCGTTAGGTTGTGGACCCCTCTTAACGGTGACATTCCCAGGCTCT GGGGTTAGGTTGTGGACCCCTCGTTCGGTGACATTCCCAGGCTCTGGGGT TAGGTTGTGGACCCGTCGTAGGTGACATTCCCAGGCTCTGGGGTTAGGTT GTGGACCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 HG03710.hp1 HG01884.hp2 HG03453.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0004t0002g0164 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0004t0002g0164	3	242	0.0124	357	c.147 others(378): Show c.1473+15322_1473+15323insGTGGACCTGTCGTAGGTGACATTC CCAGGCTCTGGGGTTAGGTTGTGGACCCCTTGTTCGGTGACATTCCCAGG CTCTGGGGTTAGGTTGTGGACCCGTCGTAGGTGACATTTCCAGGCTCTGG GGTTAGGTTATGGACCCCTCGTATGGTGACATTCCCAGGCTCTGGCGTTA GGTTGTGGACCCCTCTTAACGGTGACATTCCCAGGCTCTGGGGTTAGGTT GTGGACCCCTCGTTCGGTGACATTCCCAGGCTCTGGGGTTAGGTTGTGGA CCCGTCGTAGGTGACATTCCCAGGCTCTGGGGTTAGGTTGTGGACCTGTC GTAGGTGACATTCCCAGGCTCTGGGGTTAGGTT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(350): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTGTATACAGAATATATATACTATATATA TTCTATATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTA TATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTAT ATTAATTC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	236	0.0042	357	c.409 others(376): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATAGTATATATATTCTGTATATAGAATATATA TACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATA TATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318063	T T	TGCACCTC others(350): Show TGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGC ACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCC CTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCA CCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCAC CCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACC TCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCT CCCCCCTCCACGCCCCCTCACCTCCCCCACCTTCCACCTCCCCCCTCCAC CTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	268	0.0037	357	c.-37 others(368): Show c.-3767_-3766insGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCA CTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCAC CTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCA CCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCC CCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCC CCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3650		chr5	TogoVar
ALG14_chr1_94969405_95077951	95065227	T T	TAAAAATA others(350): Show TAAAAATAAAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0032 a0001c0001t0029g0032	1	388	0.0026	357	c.137 others(372): Show c.137-211_137-210insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTGATTTTATTTTT	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	1/3			chr1	TogoVar
AOAH_chr7_36507941_36729494	36698050	T T	TATGGTAA others(350): Show TATGGTAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0265	1	306	0.0033	357	c.128 others(376): Show c.128-11257_128-11256insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAACATTACCAT	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	1/20			chr7	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(350): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTTGTT GCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCTACC TCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT ACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACG GGGTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0184 a0005c0007t0011g0184	1	392	0.0026	357	c.703 others(372): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTTGTTGCC CAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCTACCTCC CGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACA GGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGG TTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARFGEF2_chr20_48916711_49041693	48959479	C C	CTCTCCCT others(350): Show CTCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCCTCC CTCCCTCCCTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCCATCCCTCCCTGCTTCCTTCCCTCCGTCCCTCCTTCCCTCC CTCCCTCCTTTCTTCTCTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCTT CCCTCCCTCCCTTCTTCCTTCCCTTCTTCCTTTCCTCCTTCCTTTTCTCC TTCCCTCCCTCCCTCCTTCCCTTCTTCCTTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTCCCTTTCTCCTTCCCTCCTTCCCTCCCTCCCTCACTCCC TCCCTCCT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	352	0.0028	357	c.839 others(374): Show c.839-4348_839-4347insCCCTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTCC TTCCTTCCCTCCCTCCCTCCCTCCCTCCATCCCTCCCTGCTTCCTTCCCT CCGTCCCTCCTTCCCTCCCTCCCTCCTTTCTTCTCTCCTTCCCTCCCTCC CTCCTTCCTTCCCTCCTTCCCTCCCTCCCTTCTTCCTTCCCTTCTTCCTT TCCTCCTTCCTTTTCTCCTTCCCTCCCTCCCTCCTTCCCTTCTTCCTTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTCCCTTTCTCCTTCCCTCCTTC CCTCCCTCCCTCACTCCCTCCCTCCTTCT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARHGEF10_chr8_1818926_1963641	1873607	G G	GTGCCCGC others(350): Show GTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCC GCGGGGTAGTGCACCCGCATTTCCTCGTTTCATTGAGCGGTGCCCGCGGG GTAGTGCACTCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGT GCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCC GCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATT TCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCACATTTCCTCG TTGCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCA TTGAGAGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG01891.hp2 HG02145.hp2	a0001 a0015 a0001 a0015	a0001c0106 a0015c0072 a0001c0106 a0015c0072	a0001c0106t0042 a0015c0072t0007 a0001c0106t0042 a0015c0072t0007	a0001c0106t0042g0330 a0015c0072t0007g0329 a0001c0106t0042g0330 a0015c0072t0007g0329	2	363	0.0055	357	c.680 others(374): Show c.680-2826_680-2825insCGCGGGGTAGTGCACCCGCATTTCCTAG TTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCT TGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGA GGTGCCGCGGGGTAGTGCACCCACATTTCCTCGTTGCGTTGAGAGGTGCC CGCGGGGTAGTGCACCCGCATTTCCTCGTTTCATTGAGAGCTGCCCGCGG GGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGT GCACCCGCATTTCCTCGTTTCATTGAGCGGTGCCCGCGGGGTAGTGCACT CGCATTTCCTAGTTGCCTTGAGAGGTGCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARPP21_chr3_35634525_35799486	35646762	A A	ACTCTTCG others(350): Show ACTCTTCGATGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGACTACAGG CGCCCGCCACCACGGCCGGCTAATTTTTTTTTGTGTTTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	266	0.0038	357	c.-21 others(376): Show c.-213+6379_-213+6380insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGG ACTACAGGCGCCCGCCACCACGGCCGGCTAATTTTTTTTTGTGTTTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTCTTCGATGACTTT	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(350): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCACCCCCCCACCTCCCCCCACCCCCCACCCCC ACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCTACCC CCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	254	0.0039	357	c.39+ others(374): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCCACCTCCCCACCCCCCCACCTCCCCCCACCCCC CACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCC CCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(350): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCC CACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCTACCC CCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0186 a0002c0003t0007g0186	1	254	0.0039	357	c.39+ others(374): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCAC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCC CCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804148	C C	CCCTCCTT others(350): Show CCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCA TCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCAC CTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTC ACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCC TTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCT CCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCC CTCCTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	254	0.0039	357	c.163 others(372): Show c.163-799_163-798insCTCCTTTTCCTCCTTCCCTCCTTCACCTCC CTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCT CCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCC CTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTT CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCC CTCCTTCCCCTCCTTTTCCTCCTTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804244	C C	CCCTCGTT others(350): Show CCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCC TCTCTGCCCTCGTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCT TCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCT CCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCC CTCCTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0199 a0001c0002t0070g0199	1	254	0.0039	357	c.163 others(372): Show c.163-709_163-708insGTTCCCCTCCTTCCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTC CCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTTTCCTCCTTCCC TCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTT TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCT TCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCCTCCTTTTCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V1A_chr3_113742035_113817056	113753669	T T	TCTGAAAG others(350): Show TCTGAAAGGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA20129.hp2 HG02630.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0218 a0001c0001t0001g0219	2	312	0.0064	357	c.-14 others(374): Show c.-14+6570_-14+6571insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTAAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTGAAAGGATTTCT	ATP6V1A	ENSG00000114573.12	transcript	ENST00000273398.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN3_chr14_92053552_92111582	92073408	T T	TTAAAAAG others(350): Show TTAAAAAGCAGAAACGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0044 a0044	a0044c0047 a0044c0047	a0044c0047t0087 a0044c0047t0087	a0044c0047t0087g0191 a0044c0047t0087g0191	1	402	0.0025	357	c.873 others(374): Show c.873-2356_873-2355insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCCGTTTCTGCTTTTTA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	9/10			chr14	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(350): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATA TATATATC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0264 a0002c0001t0001g0264	1	356	0.0028	357	c.249 others(376): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(350): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATA TATATATC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01928.hp2 HG01975.hp2 others(2): Show HG01074.hp1 HG01928.hp2 HG01975.hp2 HG02602.hp2 NA19007.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0005c0008 a0002c0001 a0005c0008	a0002c0001t0001 a0005c0008t0001 a0002c0001t0001 a0005c0008t0001	a0002c0001t0001g0105 a0002c0001t0001g0222 a0002c0001t0001g0256 others(2): Show a0002c0001t0001g0105 a0002c0001t0001g0222 a0002c0001t0001g0256 a0005c0008t0001g0335 a0005c0008t0001g0355	5	356	0.0140	357	c.249 others(376): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(350): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATA TATATATC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0239 a0002c0001t0001g0239	1	356	0.0028	357	c.249 others(376): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(350): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATA TATATATC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp1 HG01167.hp2 HG01261.hp1	a0002 a0002	a0002c0001 a0002c0020 a0002c0001 a0002c0020	a0002c0001t0001 a0002c0020t0001 a0002c0001t0001 a0002c0020t0001	a0002c0001t0001g0328 a0002c0020t0001g0320 a0002c0001t0001g0328 a0002c0020t0001g0320	2	356	0.0056	357	c.249 others(376): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(350): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATATTATATATATTTATATATATATATATATATATATA TATTATATATATATTTATATATATATATATTATATATATATTTATATATA TATATTATATATATATTTATATATATATATATTATATATATATTTATATA TATATATATTATATATATATTTATATATATATATATTATATATATATTTA TATATATATATATTATATATATATTTATATATATATATATTATATATATA TTTATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	216	0.0046	357	c.-2- others(374): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATATAAATATATATATAATATATATATATAAATATATATATA ATATATATATATATAAATATATATATAATATATATATATATATATATATA TATAAATATATATAATATATATATATATATAAATATATATATAATATATA TATATAAATATATATATAATATATATATATATAAATATATATATTATATA TATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(350): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01175.hp1 others(2): Show HG00140.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0009g0211 others(2): Show a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0009g0215	5	268	0.0187	357	c.328 others(370): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
C20orf96_chr20_265863_295750	278962	G G	GGGAGGGA others(350): Show GGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGCGG GAGGGACGGAGGGCGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGA CGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACG GAGGCGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGAGGGCGGGAC GGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAAGGAGGGCGGGACGGAGGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAG GGCGGGAC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0363	1	410	0.0024	357	c.465 others(372): Show c.465+209_465+210insGTCCCGCCCTCCCTCCCTCCGCCCTCCCTC CCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCTTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCT CCGTCCCGCCCTCCCGCCCTCCCGCCTCCGTCCCGCCCTCCCTCCCTCCC TCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTC CCGCCCTCCCTCCCGCCCTCCGTCCCTCCCGCCCTCCCTCCCTCCGTCCC GCCCTTCCTCCCTCCGTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145624	T T	TATATAAT others(350): Show TATATAATATAATTTATTATATTATATAATGATATATAATATAATTTATT ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TAATATAATTTATTATATTATATAATGATATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGATATATAATATAATTTATTATATTATATAAT GATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02809.hp1 NA19043.hp2 HG01891.hp2 HG02809.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0007t0002 a0002c0002t0002 a0002c0007t0002	a0002c0002t0002g0019 a0002c0007t0002g0026 a0002c0002t0002g0019 a0002c0007t0002g0026	3	398	0.0075	357	c.39 others(368): Show c.3915_*3916insTATATATCATTATATAATATAATAAATTATATTA TATATCATTATATAATATAATAAATTATATTATATATCATTATATAATAT AATAAATTATATTATATATCATTATATAATATAATAAATTATATTATATA TCATTATATAATATAATAAATTATATTATATATCATTATATAATATAATA AATTATATTATATATCATTATATAATATAATAAATTATATTATATATCAT TATATAATATAATAAATTATATTATATATCATTATATAATATAATAAATT ATATTATATATCATTATATAATATAATAAATTATATTATATATCATTATA TAATATAATAAATTATATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3381		chr22	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(350): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18955.hp1 HG00735.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0056 a0001c0003t0001g0106 a0001c0001t0001g0056 a0001c0003t0001g0106	2	166	0.0121	357	c.198 others(376): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1C_chr12_2047987_2702950	2520626	G G	GAGGAGGG others(350): Show GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGT GTTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTG TGCTTCAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01993.hp1 HG02040.hp1 others(3): Show HG01496.hp1 HG01993.hp1 HG02040.hp1 HG02273.hp1 NA18966.hp1 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 others(2): Show a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0005t0002 a0001c0006t0001	a0001c0003t0002g0045 a0001c0003t0008g0057 a0001c0003t0008g0059 others(3): Show a0001c0003t0002g0045 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0010g0019 a0001c0005t0002g0090 a0001c0006t0001g0033	6	104	0.0577	357	c.139 others(376): Show c.1390+7672_1390+7673insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGTTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCA TAGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520810	C C	CCCAATGG others(350): Show CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGACCAATGGCCGTGTGTTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTC ATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCT CATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTC TCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTT CTCATTGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03139.hp2 NA19030.hp1 HG02897.hp2 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0012 a0001c0001 a0001c0006 a0001c0012	a0001c0001t0015 a0001c0006t0001 a0001c0012t0007 a0001c0001t0015 a0001c0006t0001 a0001c0012t0007	a0001c0001t0015g0034 a0001c0006t0001g0102 a0001c0012t0007g0076 a0001c0001t0015g0034 a0001c0006t0001g0102 a0001c0012t0007g0076	3	104	0.0289	357	c.139 others(376): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGTTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGG AGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(350): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0011 a0011	a0011c0129 a0011c0129	a0011c0129t0012 a0011c0129t0012	a0011c0129t0012g0122 a0011c0129t0012g0122	1	338	0.0030	357	c.300 others(374): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMK2B_chr7_44212154_44330594	44227670	G G	GAGGGGGT others(350): Show GAGGGGGTGTGGGGGACAGAAGGGGGTGTGGGGGACAGAAAAGGGCGTGA AGGGACCAAGGTGGGTGTGGGGGACAGAGGGGGATATGGGGGACAGAGGG AGTGTAGGGGACACAGGAGGGTGTGGGGGACAGAGGGAGAGTGTAGGGAA CAGAGGGGGTGTGGGGGACACAGGAGGGTGTGGGGGACAGAGGGGGATAT GGGGGACAGAGGGAGTGTAGGGGACAGAGGAGGGTCTGGGGGGCAGAGGG AGAGTGTGGGGGACAGGGGGTGTGGGGGACAGAGGGAGTGTGGGGGACAG AGGAGGGTCTGGAGGACAGAGGGAGAGTGTAGGGAACAGAGGGGGTGTGG GGGACAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0140 a0001c0013t0003g0140	1	242	0.0041	357	c.146 others(376): Show c.1469-1027_1469-1026insTCTGTCCCCCACACCCCCTCTGTTCC CTACACTCTCCCTCTGTCCTCCAGACCCTCCTCTGTCCCCCACACTCCCT CTGTCCCCCACACCCCCTGTCCCCCACACTCTCCCTCTGCCCCCCAGACC CTCCTCTGTCCCCTACACTCCCTCTGTCCCCCATATCCCCCTCTGTCCCC CACACCCTCCTGTGTCCCCCACACCCCCTCTGTTCCCTACACTCTCCCTC TGTCCCCCACACCCTCCTGTGTCCCCTACACTCCCTCTGTCCCCCATATC CCCCTCTGTCCCCCACACCCACCTTGGTCCCTTCACGCCCTTTTCTGTCC CCCACACCCCCTTCTGTCCCCCACACCCCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(350): Show CCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGTCGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01952.hp2 HG02293.hp2 others(2): Show HG01346.hp1 HG01952.hp2 HG02293.hp2 HG02738.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0012 a0001c0001 a0001c0008 a0003c0012	a0001c0001t0002 a0001c0008t0001 a0003c0012t0002 a0001c0001t0002 a0001c0008t0001 a0003c0012t0002	a0001c0001t0002g0142 a0001c0001t0002g0264 a0001c0001t0002g0299 others(2): Show a0001c0001t0002g0142 a0001c0001t0002g0264 a0001c0001t0002g0299 a0001c0008t0001g0258 a0003c0012t0002g0061	5	410	0.0122	357	c.-22 others(374): Show c.-22-1985_-22-1984insCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGTCGTCTCCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN5_chr11_77061971_77131155	77098066	A A	ACCTCCCG others(350): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCC CCCACCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0182 a0001c0001t0046g0182	1	382	0.0026	357	c.297 others(374): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCBE1_chr18_59425939_59702423	59473755	C C	CACCATCC others(350): Show CACCATCCAACCCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCC TCCCACTATGTCCTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCC CACTACTACTCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCC ACTATTCCCCCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACT ACTACTCACCTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACC TTCCAACCCTCCTACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCC ACTATTCCCCCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCCCGC TACTACCT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	242	0.0041	357	c.266 others(374): Show c.266-4149_266-4148insAGGTAGTAGCGGGGGAATAGTGGGAGGG TTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGAGT AGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGAGG AAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAAGG GTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGAGT ACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTGGA AGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAGTG GGGGGGAAATAGTGGAAGGGTTGGATGGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCDC6_chr10_59783747_59911556	59882297	A A	AAGGAAAG others(350): Show AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGA AAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCG CGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGG AAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAG CCGGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18747.hp1 HG00558.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0106 a0001c0001t0002g0089 a0001c0001t0002g0106	2	288	0.0069	357	c.303 others(376): Show c.303+23824_303+23825insCTCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCTG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTT CCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCT CCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCCGGCTTTCCTTTCCT	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(350): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCGTTCC TCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCC TCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCT CCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTC CGGAGCCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0091 a0001c0001t0001g0117 a0001c0001t0001g0045 a0001c0001t0001g0091 a0001c0001t0001g0117	3	374	0.0080	357	c.336 others(372): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAACGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGG AGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGA GGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAG GAGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD300A_chr17_74461634_74489794	74482702	C C	CTTCCTTC others(350): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTCTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	424	0.0024	357	c.774 others(372): Show c.774+871_774+872insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(350): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0019 a0019	a0019c0021 a0019c0021	a0019c0021t0001 a0019c0021t0001	a0019c0021t0001g0168 a0019c0021t0001g0168	1	440	0.0023	357	c.12 others(368): Show c.1214_*1215insTATAGATGTATCTATATATAGATGTATCTATATA TAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar

Search by Variant

Search

Search Results