Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(460): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATC ACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0071 a0003c0003t0003g0071	1	116	0.0086	467	c.199 others(486): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SHANK1_chr19_50654255_50724802	50678994	G G	GATGGGAA others(460): Show GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTCAGGGTGA TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGAT GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGG TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG GTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAAGATGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0012 a0003c0006t0012	a0003c0006t0012g0088 a0003c0006t0012g0088	1	316	0.0032	467	c.257 others(486): Show c.2578-6881_2578-6880insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACC CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC CATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA TCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC TCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTG ACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCAT		SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23						chr19	TogoVar
SIGIRR_chr11_400716_419999	401100	A A	ACCGCTCA others(460): Show ACCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCC GCTCACACCCGCCCCGCTCACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCGCTCAACCCCCGCGCCCCGCTCACACC CGCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCCGCTCACCCCCCGGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCCTCACCCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCCGCCCCCGCTCACACCCGGCCCCG CTCACACCCCGACCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCA CACCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCG CGTCCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGCCCCCGCTCACA CCCGGCCCCCGCTCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	242	0.0041	467	c.47 others(478): Show c.4795_*4796insGTGTGAGCGGGGGCCGGGTGTGAGCGGGGGCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGACGCGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGTGTGAGCGGGGCCGGGGT GAGCGGGGCCGGGGTGAGCGGGTCGGGGTGTGAGCGGGGCCGGGTGTGAG CGGGGGCGGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGTGAGGC GGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGGTGAGCGG GGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGCGGGTGTGAGCGGGGCGC GGGGGTTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGG GTGAGCGGGGCGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGC GGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4615		chr11	TogoVar
SNTG2_chr2_945849_1372613	965358	C C	CTTGGACC others(460): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGA CCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTC CTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCC CAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTC CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAA TCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTG GTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	190	0.0053	467	c.72+ others(484): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(460): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	302	0.0033	467	c.12+ others(482): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTT TATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATAAAATATATTATAGTTTATATAATATATA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827465	A A	ATATATAT others(460): Show ATATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAA TATATAAAATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0202 a0001c0012t0001g0202	1	302	0.0033	467	c.12+ others(482): Show c.12+4019_12+4020insTATATATTATAGTTTATATAATATATAAAA TATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATAT		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17						chr6	TogoVar
SORCS2_chr4_7187538_7747827	7449241	C C	CCCTTCCT others(460): Show CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCC CCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCT TCCTCTTTTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0071 a0001c0047t0071	a0001c0047t0071g0051 a0001c0047t0071g0051	1	168	0.0060	467	c.548 others(486): Show c.548+52889_548+52890insTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCT CCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPTSSA_chr14_34427788_34467240	34443361	T T	AGTGTGTG others(460): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTT TCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCA ACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATGG AGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCA CTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAG GGTGTGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTT GAGATGGAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCT TAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCT AGGGGAGGGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	344	0.0029	467	c.113 others(484): Show c.113-8057_113-8056insCACACACACCCTCCCCTAGAAGCAGGAG AATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTAAGACTGTGCCA TTGCACTCCAGCTGGGTAATGAGAGGAAAACTCCATCTCAAAACACACAC ACACACACACACACACACACACACACACACACTCACACCCTCCCCTAGAA GCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTAAGAC TGTGCCATTGCACTCCAGCTGGGTAATGAGAGGAAAACTCCATCTCAAAA CACACACACACACACACACACACACACACACACACACACACACCCTCCCC TAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCT AAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAGGAAAACTCCATCT CAAAACACACACACACACACACACACACACACACACACT		SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1						chr14	TogoVar
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(460): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGGAGGGAGAGGGAGAGGGACAGGGGAGAGGGAGG GAGAGAGGGAGAGGGAGGGGAGAGGGGGAGAGGGAGGGGAGGGGGAGAGG GGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGA GAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGA GGGAGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAG GGGGGAGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGA GGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGG GGAGGAGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGA GAGAGAGGGAGGAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0165 a0002c0011t0001g0165	1	256	0.0039	467	c.22 others(478): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAG AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGGAGGGAGAGGGAGAGGGA CAGGGGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGAGGGGGAGAGGGA GGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAG GGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAG GGAGAGGGAGAGGGAGGGAGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGA GGGAGAGGGAGGGAGGGGGGAGGAGAGAGATGGGGGAGGGGGAGGGAGAG GGATGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGA AGGAGAGGGAGAGGGGGAGGAGAGGGGGAGAGAGGGAGAGGGAGAGAGAG GGAAAGGGAGTGAGAGAGAGAGGGAGGAGAGGA		STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding					1880		chr12	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(460): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0203 a0005c0008t0003g0203	1	322	0.0031	467	c.597 others(484): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTC CTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC		STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10						chr13	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TACACATA others(460): Show TACACATATGTGTACATATGTGTATATATACATATATATACACATATATA TGTATATATACACATATGTGAATATGTATATATGTGTTATATATACACAT ATGTGTATATGTATATATACATATATACACATATGTGTATATATACATAT ATACATATACACATATGTGTATATACATATATACATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATACATATATACAT ATACACATATGTGTATATATAACACATATATACACCTATGTGTATATATA ACACATATATACACCTATGTGTATATATAACACATATATACACCTATGTG TATATATACATATATACACCTATGTGTATATATACATATATACACCTATG TGTATATATACATATATACACCTATGTGTATATATACATATATACATATA CACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0044 a0001c0005t0044	a0001c0005t0044g0240 a0001c0005t0044g0240	1	376	0.0027	467	c.158 others(486): Show c.1582-2866_1582-2865insCATATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATACATAT ATACATATACACATATGTGTATATATACATATATACATATACACATATGT GTATATATACATATATACATATACACATATGTGTATATATAACACATATA TACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAA CACATATATACACCTATGTGTATATATACATATATACACCTATGTGTATA TATACATATATACACCTATGTGTATATATACATATATACACCTATGTGTA TATATACATATATACATATACACATATGTGTATATATAACA		SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(460): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAG GGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGGGAGGGGGGAGGGAGGGGGGAGAGGGAGGGGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGGAGAGAGGGGG GGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0044 a0001c0002t0029g0044	1	276	0.0036	467	c.-18 others(486): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCCCCTCCCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCCTCTC TCCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCTCCCT CCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTC TCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCT CTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC		SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8						chr1	TogoVar
TEDC2_chr16_2455109_2469963	2466524	A A	ATACAAAA others(460): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAGGCA GGCACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAG GCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAA CCTCGTCTCTACTAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02922.hp1 HG02970.hp2 others(2): Show HG02896.hp1 HG02922.hp1 HG02970.hp2 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0004g0036 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0004g0036	5	378	0.0132	467	c.18 others(478): Show c.1856_*1857insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAAAAAAAAAAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTT GGAAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTG ACCAACATGGTGAAACCTCGTCTCTACTAAAAC		TEDC2	ENSG00000162062.15	transcript	ENST00000361837.9	protein_coding					1562		chr16	TogoVar
TEDC2_chr16_2455109_2469963	2466524	A A	ATACAAAA others(460): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAGGCA GGCACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAG GCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAA CCTCGTCTCTACTAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03579.hp1 NA19043.hp1 HG03486.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0050	3	378	0.0079	467	c.18 others(478): Show c.1856_*1857insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAAAAAAAAAAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTT GGAAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTG ACCAACATGGTGAAACCTCGTCTCTACTAAAAC		TEDC2	ENSG00000162062.15	transcript	ENST00000361837.9	protein_coding					1562		chr16	TogoVar
TERT_chr5_1248167_1300068	1273154	C C	CCACACAT others(460): Show CCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCC CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCTACGAC CGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	392	0.0026	467	c.228 others(484): Show c.2287-875_2287-874insTGGTGACTGTGGATGGCGGTCGTAGGGT CTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGTGATCGGT CACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(460): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACA TTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCT TCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACAT TCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	396	0.0025	467	c.695 others(482): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGG AAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGA AGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAG TGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAG GTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAG ATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG		THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21						chr6	TogoVar
TOLLIP_chr11_1269371_1314632	1294201	T T	TGTGGCTC others(460): Show TGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTT TCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCTGCGTGGCTCACAGTGTGTCTCCTTTCCCTGC ATTTCTACGAAAGCCCGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0313 a0001c0001t0004g0313	1	348	0.0029	467	c.183 others(484): Show c.183+1443_183+1444insGCGGGCTTTCGTAGAAATGCAGGGAAAG GAGACACACTGTGAGCCACGCAGGCTTTCGTAGAAATGCAGGGAAAGGAG ACACACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGGAAAGGAGACAC ACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGT GAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAG CCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCA CGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGC GGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTT TCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCAC		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294286	G G	GAAAGCCC others(460): Show GAAAGCCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAA AGCCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGC CCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCG CGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGC TCAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCTGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCC TTTCCCTGCATTTCTACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0315 a0001c0001t0004g0315	1	348	0.0029	467	c.183 others(484): Show c.183+1358_183+1359insTGTAGAAATGCAGGGAAAGGAGACACAC TGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGT GAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAG CCACGCAGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCA CGCGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGAGCCATGCGGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTT TCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTTTCG TAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTTTCGTAG AAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTTTCGTAGAAA TGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTTT		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5						chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930711	A A	AGGGTAGG others(460): Show AGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGG TTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTTAGGGAGACCAAGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCAGGGTTAAGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	466	0.0022	467	c.48 others(478): Show c.4879_*4880insGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCC CTAACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACC CTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTA ACCCCAGCCTCCCTAACCCCAGCCTCCCTACCC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4658		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507397	T T	TCTACATG others(460): Show TCTACATGTACACATGTATACATGTATACACGTGTATACGTATACACGTG TATACACGTGTATACGTGTATACGTGTATACACGTGTATACGTGTATACG TGTGTATACACGTGTATACGTGTATACGTGTGTATACATGTATACGTGTA TACGTGTGTATACATGTATACGTGTATACGTGTGTATACATGTATACGTG TATACGTGTGTATACATGTATACGTGTATACGTGTGTATACATGTGTATA CGTGTATACGTGTGTATACATGTGTATACGTGTATACGTGTGTATACATG TGTATACGTGTATACGTGTGTATACATGTATACGTGTATACGTGTGTATA CATGTATATGTGTATACGTGTGTATACATGTATATGTGTATACGTGTGTA TACATGTATGTATGTGTATATGTGTATACATGTATATATGTATACATACA CACGCGCGTGTATATATG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	388	0.0026	467	c.-23 others(484): Show c.-23+2650_-23+2651insCATATATACACGCGCGTGTGTATGTATA CATATATACATGTATACACATATACACATACATACATGTATACACACGTA TACACATATACATGTATACACACGTATACACATATACATGTATACACACG TATACACGTATACATGTATACACACGTATACACGTATACACATGTATACA CACGTATACACGTATACACATGTATACACACGTATACACGTATACACATG TATACACACGTATACACGTATACATGTATACACACGTATACACGTATACA TGTATACACACGTATACACGTATACATGTATACACACGTATACACGTATA CATGTATACACACGTATACACGTATACACGTGTATACACACGTATACACG TATACACGTGTATACACGTATACACGTATACACGTGTATACACGTGTATA CGTATACACGTGTATACATGTATACATGTGTACATGTAG		TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6						chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870577	A A	ACACCCCA others(460): Show ACACCCCAAACACACCACACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACATCACATACCCCACACACCACACA CCCCACACACACCACACACCCCCCACACACCACACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACACACCACACACAC CACACACCCCCCACACACCACACCCCACACACACCACACACCCCACACAC ACATCACATACCCCACACACCACACACCCCACACACACCACACACCCCCC ACACACCACACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACAAACCACACACCCTACACA CCCCACACACACCACACACACACATCACATACCACACACACATCACATAC CACACACAAACCACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	338	0.0030	467	c.35 others(486): Show c.35+21847_*35+21848insCCCAAACACACCACACACACCACACA CCCCCCACACACCACACCCCACACACACCACACACCCCACACACACATCA CATACCCCACACACCACACACCCCACACACACCACACACCCCCCACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACACACCACACACACCACACACCCCCCACACACCACACCCCACAC ACACCACACACCCCACACACACATCACATACCCCACACACCACACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCACACACACACATCACAT ACCACACACACATCACATACCACACACAAACCACACACCAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870577	A A	ACACCCCA others(460): Show ACACCCCACACACACCACACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACATCACATACCCCACACACCACACA CCCCACACACACCACACACCCCCCACACACCACACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACACACCACACACAC CACACACCCCCCACACACCACACCCCACACACACCACACACCCCACACAC ACATCACATACCCCACACACCACACACCCCACACACACCACACACCCCCC ACACACCACACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACAAACCACACACCCTACACA CCCCACACACACCACACACACACATCACATACCACACACACATCACATAC CACACACAAACCACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp2 HG01952.hp2 others(4): Show HG00673.hp2 HG01109.hp2 HG01952.hp2 NA18941.hp1 NA18962.hp2 NA18970.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0001g0150 a0001c0001t0002g0071 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0150 a0001c0001t0002g0071 a0001c0001t0002g0153 a0001c0001t0003g0020 a0001c0001t0003g0043 a0001c0001t0003g0079	7	338	0.0207	467	c.35 others(486): Show c.35+21847_*35+21848insCCCACACACACCACACACACCACACA CCCCCCACACACCACACCCCACACACACCACACACCCCACACACACATCA CATACCCCACACACCACACACCCCACACACACCACACACCCCCCACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACACACCACACACACCACACACCCCCCACACACCACACCCCACAC ACACCACACACCCCACACACACATCACATACCCCACACACCACACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCACACACACACATCACAT ACCACACACACATCACATACCACACACAAACCACACACCAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS53_chr17_503668_719839	510451	A A	ATATCGAA others(460): Show ATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCAC ATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCCC ATATGAAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCCC ATATGAAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCCC ATATGAAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT GTCCCCTTGCTAGTCACG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0143 a0001c0001t0121g0143	1	232	0.0043	467	c.86 others(478): Show c.8676_*8677insCGTGACTAGCAAGGGGACAAGCCAGGATTTGATA TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA TGTGACTAGTGAGGGGTGAGCCAGGATTCGATATGTGACTAGTAAGGGGT CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA TGTGACTAGTGAGGGGTGAGCCAGGATTCGATA		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22				8676		chr17	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(460): Show CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTT TCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCT TTCCCCCCTTTCCCCCTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	246	0.0041	467	c.-10 others(484): Show c.-10-3217_-10-3216insTCCCCCTTCCCCCCTTCCCCCTTCCCCC TTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTT CCCCCCTCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTT CCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTT		ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZDHHC11B_chr5_705355_789729	754196	C C	CCTCCACC others(460): Show CCTCCACCATGCTCAGGGGAAACACCTCTCGCCTATGAGCCTCCACCATG CTCAGGGGAAAGACCTCTCACCTGTGAGCCTCCACCATGCTCAGTGGAAA CACCTCTCATCTGTGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATC TATGAGCCTCCACCATGCTCAGGAGAAACACCTCTCGCCTGTGAGCCTCC ACCATGCTCAGGGGAAAGACCTCTCGCCTGTGAGCCTCCACCGTGCTCAG GGAAACATCTCTCTTCCTTGCATCTCCACCGTGCTCAGGGGAAACACCTC TCGTCTATGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATCTGTGAG CCTCCACCATGCTCAGCGGAAACACCTCTCGTCCTTGAGCCTCCACCGTG CTCAGGGGAAACACGTCTCATCTATGAGTCTCCACTGTGCTCAGGGGAAA CACCTCTCATTTATGAGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0074 a0001c0035t0074	a0001c0035t0074g0235 a0001c0035t0074g0235	1	271	0.0037	467	c.503 others(482): Show c.503+801_503+802insACTCATAAATGAGAGGTGTTTCCCCTGAGC ACAGTGGAGACTCATAGATGAGACGTGTTTCCCCTGAGCACGGTGGAGGC TCAAGGACGAGAGGTGTTTCCGCTGAGCATGGTGGAGGCTCACAGATGAG AGGTGTTTCCCCTGAGCACGGTGGAGGCTCATAGACGAGAGGTGTTTCCC CTGAGCACGGTGGAGATGCAAGGAAGAGAGATGTTTCCCTGAGCACGGTG GAGGCTCACAGGCGAGAGGTCTTTCCCCTGAGCATGGTGGAGGCTCACAG GCGAGAGGTGTTTCTCCTGAGCATGGTGGAGGCTCATAGATGAGAGGTGT TTCCCCTGAGCACGGTGGAGGCTCACAGATGAGAGGTGTTTCCACTGAGC ATGGTGGAGGCTCACAGGTGAGAGGTCTTTCCCCTGAGCATGGTGGAGGC TCATAGGCGAGAGGTGTTTCCCCTGAGCATGGTGGAG		ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13						chr5	TogoVar
ZDHHC11B_chr5_705355_789729	754196	C C	CCTCCACC others(460): Show CCTCCACCATGCTCAGGGGAAACACCTCTCGCCTATGAGCCTCCACCATG TTCAGGGGAAAGACCTCTCGCCTGTGAGCCTCCACCATGCTCAGTGGAAA CACCTCTCATCTGTGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATC TATGAGCCTCCACCATGCTCAGGAGAAACACCTCTCGCCTGTGAGCCTCC ACCATGCTCAGGGGAAAGACCTCTCGCCTGTGAGCCTCCACCGTGCTCAG GGAAACATCTCTCTTCCTTGCATCTCCACCGTGCTCAGGGGAAACACCTC TCGTCTATGAGCCTCCACCATGCTCAGGGGAAACACCTCTCATCTGTGAG CCTCCACCATGCTCAGCGGAAACACCTCTCGTCCTTGAGCCTCCACCGTG CTCAGGGGAAACACGTCTCATCTATGAGTCTCCACTGTGCTCAGGGGAAA CACCTCTCATTTATGAGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0018 a0018	a0018c0063 a0018c0063	a0018c0063t0042 a0018c0063t0042	a0018c0063t0042g0014 a0018c0063t0042g0014	1	271	0.0037	467	c.503 others(482): Show c.503+801_503+802insACTCATAAATGAGAGGTGTTTCCCCTGAGC ACAGTGGAGACTCATAGATGAGACGTGTTTCCCCTGAGCACGGTGGAGGC TCAAGGACGAGAGGTGTTTCCGCTGAGCATGGTGGAGGCTCACAGATGAG AGGTGTTTCCCCTGAGCATGGTGGAGGCTCATAGACGAGAGGTGTTTCCC CTGAGCACGGTGGAGATGCAAGGAAGAGAGATGTTTCCCTGAGCACGGTG GAGGCTCACAGGCGAGAGGTCTTTCCCCTGAGCATGGTGGAGGCTCACAG GCGAGAGGTGTTTCTCCTGAGCATGGTGGAGGCTCATAGATGAGAGGTGT TTCCCCTGAGCACGGTGGAGGCTCACAGATGAGAGGTGTTTCCACTGAGC ATGGTGGAGGCTCACAGGCGAGAGGTCTTTCCCCTGAACATGGTGGAGGC TCATAGGCGAGAGGTGTTTCCCCTGAGCATGGTGGAG		ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13						chr5	TogoVar
ZDHHC11B_chr5_705355_789729	754196	C C	CCTCCACC others(460): Show CCTCCACCATGCTCAGGGGAAACACCTCTCGCCTGTGAGCCTCCACCATG CTCAGGGGAAAGACCTCTCACCTGTGAGCCTCCACCATGCTCAGTGGAAA CACCTCTCATCTGTGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATC TATGAGCCTCCACCATGCTCAGGAGAAACACCTCTCGCCTGTGAGCCTCC ACCATGCTCAGGGGAAAGACCTCTCGCCTGTGAGCCTCCACCGTGCTCAG GGAAACATCTCTCTTCCTTGCATCTCCACCGTGCTCAGGGGAAACACCTC TCGTCTATGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATCTGTGAG CCTCCACCATGCTCAGCGGAAACACCTCTCGTCCTTGAGCCTCCACCGTG CTCAGGGGAAACACGTCTCATCTATGAGTCTCCACTGTGCTCAGGGGAAA CACCTCTCATTTATGAGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0021 a0001c0008t0007g0021	1	271	0.0037	467	c.503 others(482): Show c.503+801_503+802insACTCATAAATGAGAGGTGTTTCCCCTGAGC ACAGTGGAGACTCATAGATGAGACGTGTTTCCCCTGAGCACGGTGGAGGC TCAAGGACGAGAGGTGTTTCCGCTGAGCATGGTGGAGGCTCACAGATGAG AGGTGTTTCCCCTGAGCACGGTGGAGGCTCATAGACGAGAGGTGTTTCCC CTGAGCACGGTGGAGATGCAAGGAAGAGAGATGTTTCCCTGAGCACGGTG GAGGCTCACAGGCGAGAGGTCTTTCCCCTGAGCATGGTGGAGGCTCACAG GCGAGAGGTGTTTCTCCTGAGCATGGTGGAGGCTCATAGATGAGAGGTGT TTCCCCTGAGCACGGTGGAGGCTCACAGATGAGAGGTGTTTCCACTGAGC ATGGTGGAGGCTCACAGGTGAGAGGTCTTTCCCCTGAGCATGGTGGAGGC TCACAGGCGAGAGGTGTTTCCCCTGAGCATGGTGGAG		ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13						chr5	TogoVar
ZDHHC11B_chr5_705355_789729	754220	C C	CCTCTCGC others(460): Show CCTCTCGCCTATGAGCCTCCACCATGCTCAGGGGAAAGACCTCTCGCCTG TGAGCCTCCACCATGCTCAGTGGAAACACCTCTCATCTGTGAGCCTCCAC CGTGCTCAGGGGAAACACCTCTCATCTATGAGCCTCCACCATGCTCAGGA GAAACACCTCTCGCCTGTGAGCCTCCACCATGCTCAGGGGAAAGACCTCT CGCCTGTGAGCCTCCACCGTGCTCAGGGAAACATCTCTCTTCCTTGCATC TCCACCGTGCTCAGGGGAAACACCTCTCGTCTATGAGCCTCCACCGTGCT CAGGGGAAACACCTCTCATCTGTGAGCCTCCACCATGCTCAGCGGAAACA CCTCTCGTCCTTGAGCCTCCACCGTGCTCAGGGGAAACACGTCTCATCTA TGAGTCTCCACTGTGCTCAGGGGAAACACCTCTCATCTATGAGTCTCCAC CATGCTCAGGGGAAACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(44): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02280.hp2 HG02559.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03704.hp1 NA18747.hp1 NA18945.hp1 NA18950.hp2 NA18979.hp2 NA18983.hp1 NA18997.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19080.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0014 others(8): Show a0001c0003 a0001c0004 a0001c0014 a0001c0016 a0001c0024 a0001c0025 a0001c0033 a0001c0037 a0001c0047 a0001c0049 a0001c0050	a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 others(19): Show a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0028 a0001c0003t0033 a0001c0003t0035 a0001c0004t0002 a0001c0004t0006 a0001c0004t0028 a0001c0004t0049 a0001c0014t0032 a0001c0014t0059 a0001c0014t0076 a0001c0016t0027 a0001c0016t0060 a0001c0024t0019 a0001c0025t0016 a0001c0033t0064 a0001c0037t0010 a0001c0047t0027 a0001c0049t0016 a0001c0050t0016	a0001c0003t0002g0001 a0001c0003t0002g0056 a0001c0003t0002g0065 others(43): Show a0001c0003t0002g0001 a0001c0003t0002g0056 a0001c0003t0002g0065 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0077 a0001c0003t0002g0082 a0001c0003t0002g0085 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0093 a0001c0003t0002g0141 a0001c0003t0002g0153 a0001c0003t0006g0079 a0001c0003t0006g0084 a0001c0003t0010g0213 a0001c0003t0010g0247 a0001c0003t0010g0262 a0001c0003t0010g0265 a0001c0003t0028g0026 a0001c0003t0033g0080 a0001c0003t0033g0081 a0001c0003t0035g0098 a0001c0004t0002g0151 a0001c0004t0006g0083 a0001c0004t0028g0039 a0001c0004t0049g0070 a0001c0014t0032g0047 a0001c0014t0032g0048 a0001c0014t0059g0122 a0001c0014t0076g0241 a0001c0016t0027g0201 a0001c0016t0027g0210 a0001c0016t0060g0172 a0001c0024t0019g0131 a0001c0024t0019g0132 a0001c0025t0016g0195 a0001c0025t0016g0197 a0001c0033t0064g0194 a0001c0037t0010g0260 a0001c0047t0027g0208 a0001c0049t0016g0205 a0001c0050t0016g0198	47	271	0.1734	467	c.503 others(482): Show c.503+777_503+778insATGTTTCCCCTGAGCATGGTGGAGACTCAT AGATGAGAGGTGTTTCCCCTGAGCACAGTGGAGACTCATAGATGAGACGT GTTTCCCCTGAGCACGGTGGAGGCTCAAGGACGAGAGGTGTTTCCGCTGA GCATGGTGGAGGCTCACAGATGAGAGGTGTTTCCCCTGAGCACGGTGGAG GCTCATAGACGAGAGGTGTTTCCCCTGAGCACGGTGGAGATGCAAGGAAG AGAGATGTTTCCCTGAGCACGGTGGAGGCTCACAGGCGAGAGGTCTTTCC CCTGAGCATGGTGGAGGCTCACAGGCGAGAGGTGTTTCTCCTGAGCATGG TGGAGGCTCATAGATGAGAGGTGTTTCCCCTGAGCACGGTGGAGGCTCAC AGATGAGAGGTGTTTCCACTGAGCATGGTGGAGGCTCACAGGCGAGAGGT CTTTCCCCTGAGCATGGTGGAGGCTCATAGGCGAGAG		ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13						chr5	TogoVar
ZDHHC11B_chr5_705355_789729	754220	C C	CCTCTCGC others(460): Show CCTCTCGCCTATGAGCCTCCACCATGCTCAGGGGAAAGACCTCTCGCCTG TGAGCCTCCACCATGCTCAGTGGAAACACCTCTCATCTGTGAGCCTCCAC CGTGCTCAGGGGAAACACCTCTCATCTATGAGCCTCCACCATGCTCAGGA GAAACACCTCTCGCCTGTGAGCCTCCACCATGCTCAGGGGAAAGACCTCT CGCCTGTGAGCCTCCACCGTGCTCAGGGAAACATCTCTCTTCCTTGCATC TCCACCGTGCTCAGGGGAAACACCTCTCGTCTATGAGCCTCCACCGTGCT CAGGGGAAACACCTCTCATCTGTGAGCCTCCACCATGCTCAGCGGAAACA CCTCTCGTCCTTGAGCCTCCACCGTGCTCAGGGGAAACACGTCTCATCTA TGAGTCTCCACTGTGCTCAGGGGAAACACCTCTCATCTATGAGTCTCCAC CATGCTCAGGGGAAACGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19068.hp1 HG00597.hp1 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0067 a0001c0003t0002 a0001c0003t0067	a0001c0003t0002g0078 a0001c0003t0067g0246 a0001c0003t0002g0078 a0001c0003t0067g0246	2	271	0.0074	467	c.503 others(482): Show c.503+777_503+778insACGTTTCCCCTGAGCATGGTGGAGACTCAT AGATGAGAGGTGTTTCCCCTGAGCACAGTGGAGACTCATAGATGAGACGT GTTTCCCCTGAGCACGGTGGAGGCTCAAGGACGAGAGGTGTTTCCGCTGA GCATGGTGGAGGCTCACAGATGAGAGGTGTTTCCCCTGAGCACGGTGGAG GCTCATAGACGAGAGGTGTTTCCCCTGAGCACGGTGGAGATGCAAGGAAG AGAGATGTTTCCCTGAGCACGGTGGAGGCTCACAGGCGAGAGGTCTTTCC CCTGAGCATGGTGGAGGCTCACAGGCGAGAGGTGTTTCTCCTGAGCATGG TGGAGGCTCATAGATGAGAGGTGTTTCCCCTGAGCACGGTGGAGGCTCAC AGATGAGAGGTGTTTCCACTGAGCATGGTGGAGGCTCACAGGCGAGAGGT CTTTCCCCTGAGCATGGTGGAGGCTCATAGGCGAGAG		ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13						chr5	TogoVar
ZNF365_chr10_62369369_62407450	62370977	T T	TCATATGT others(460): Show TCATATGTGATATATATGGTATATATGATATATATCATATATATCATATG TGATATATATGATACATATGACATATATCATATGTGATACATATGACATA TATCATATGTGATACATATGACATATATCATATGTGATACATATGACATA TATCATATGTGATACATATGACATATATCATATGTGATACATATGACATA TATCATATGTGATATATGTCACATATATCATATGTGATATATGTGATATA TGTGACATATATCACATGTGATATATATCATATATATCATATATATGATA TATATCATATATATCATATATATGATATATATCATATATCATATATATGA TATATATCACATATATATATCATATATATCACATATATATCATATATATC ATATATATATCATATATATGATATATATCATATATATATCATATATATGA TATATATCATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	350	0.0029	467	c.-34 others(478): Show c.-3495_-3494insCATATGTGATATATATGGTATATATGATATATAT CATATATATCATATGTGATATATATGATACATATGACATATATCATATGT GATACATATGACATATATCATATGTGATACATATGACATATATCATATGT GATACATATGACATATATCATATGTGATACATATGACATATATCATATGT GATACATATGACATATATCATATGTGATATATGTCACATATATCATATGT GATATATGTGATATATGTGACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATCATATATATGATATATATCATATATATCA		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3391		chr10	TogoVar
ZNF880_chr19_52364923_52390795	52384797	A A	AACCTTAC others(460): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACAAACAAACAAAAAAA AAAAAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACC TTGCACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGT GACTGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAG AGTTCACACTGGAGAGAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00140.hp2 HG03017.hp2 HG00140.hp2 HG03017.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0036 a0002c0014t0001g0036	2	458	0.0044	467	c.123 others(476): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAACAAACAAACAAAAAAAAAAAAAC AAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCACA ACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGTG GCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCAC ACTGGAGAGAGACCTTACAAATGTAATGAAT	p.Cys others(5): Show p.Cys413fs	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF880_chr19_52364923_52390795	52384797	A A	AACCTTAC others(460): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACAAACAAACAAACAAA AAAAAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACC TTGCACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGT GACTGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAG AGTTCACACTGGAGAGAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(139): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1	a0002 a0005 a0012 others(1): Show a0002 a0005 a0012 a0015	a0002c0002 a0002c0015 a0005c0006 others(2): Show a0002c0002 a0002c0015 a0005c0006 a0012c0023 a0015c0019	a0002c0002t0001 a0002c0015t0001 a0005c0006t0001 others(2): Show a0002c0002t0001 a0002c0015t0001 a0005c0006t0001 a0012c0023t0001 a0015c0019t0001	a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0014 others(72): Show a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0097 a0002c0002t0001g0102 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0150 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0200 a0002c0002t0001g0221 a0002c0002t0001g0252 a0002c0015t0001g0001 a0005c0006t0001g0008 a0005c0006t0001g0061 a0005c0006t0001g0115 a0005c0006t0001g0128 a0005c0006t0001g0129 a0005c0006t0001g0239 a0012c0023t0001g0222 a0015c0019t0001g0189	142	458	0.3100	467	c.123 others(476): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAACAAACAAACAAACAAAAAAAAAC AAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCACA ACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGTG GCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCAC ACTGGAGAGAGACCTTACAAATGTAATGAAT	p.Cys others(5): Show p.Cys413fs	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF880_chr19_52364923_52390795	52384797	A A	AACCTTAC others(460): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAACAACAAACAAACAAACAAA AAAAAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACC TTGCACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGT GACTGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAG AGTTCACACTGGAGAGAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00738.hp1 HG02258.hp2 HG02572.hp1 others(6): Show HG00738.hp1 HG02258.hp2 HG02572.hp1 HG02647.hp1 HG02896.hp1 HG03098.hp1 HG03453.hp1 HG03453.hp2 NA21309.hp2	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0030 a0007c0008 a0008c0009 a0002c0030 a0007c0008 a0008c0009	a0002c0030t0007 a0007c0008t0001 a0008c0009t0001 a0002c0030t0007 a0007c0008t0001 a0008c0009t0001	a0002c0030t0007g0196 a0007c0008t0001g0062 a0007c0008t0001g0063 others(3): Show a0002c0030t0007g0196 a0007c0008t0001g0062 a0007c0008t0001g0063 a0007c0008t0001g0064 a0007c0008t0001g0065 a0008c0009t0001g0013	9	458	0.0197	467	c.123 others(476): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAACAACAAACAAACAAACAAAAAAAAAC AAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCACA ACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGTG GCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCAC ACTGGAGAGAGACCTTACAAATGTAATGAAT	p.Cys others(5): Show p.Cys413fs	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF880_chr19_52364923_52390795	52384797	A A	AACCTTAC others(460): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAACAAACAAACAAACAAACAAA AAAAAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACC TTGCACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGT GACTGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAG AGTTCACACTGGAGAGAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00735.hp2 HG02809.hp1 NA18970.hp1 HG00735.hp2 HG02809.hp1 NA18970.hp1	a0002 a0005 a0002 a0005	a0002c0029 a0005c0011 a0002c0029 a0005c0011	a0002c0029t0001 a0005c0011t0001 a0002c0029t0001 a0005c0011t0001	a0002c0029t0001g0016 a0005c0011t0001g0008 a0002c0029t0001g0016 a0005c0011t0001g0008	3	458	0.0066	467	c.123 others(476): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAACAAACAAACAAACAAACAAAAAAAAAC AAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCACA ACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGTG GCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCAC ACTGGAGAGAGACCTTACAAATGTAATGAAT	p.Cys others(5): Show p.Cys413fs	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(461): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATA TATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATA AATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	306	0.0033	468	c.130 others(487): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATAT AAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(461): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18998.hp1 NA18946.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0256 a0001c0001t0001g0262	2	306	0.0065	468	c.130 others(487): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAAT ATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTG ATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATAT AAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(461): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATA AATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0162 a0001c0002t0005g0162	1	306	0.0033	468	c.130 others(487): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAA AAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTGATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATAT AAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288296	C C	CCCGTGTC others(461): Show CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCCCCGTCCTGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	295	0.0034	468	c.52 others(479): Show c.5267_*5268insACGGGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGA CGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGAC ACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGA GCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGA CGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACAC GGGACGGAGCAGGGACACAGGACGGGGCAGAGACACGGGGGACGGAGCAG AGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGA GCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGA CGGGGCAGAGACACGGGACGGAGCAGAGACACGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4094		chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(461): Show GGAGGGAGAGGGAGACGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0216 a0001c0002t0034g0216	1	354	0.0028	468	c.523 others(487): Show c.523-13463_523-13462insAGAGGGAGACGGAGACGGAGACGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(461): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGTGGGAAGGAAAGGAGG GATGGGAGGGAGGGAGGGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGA GAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGG GAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAG GGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA TGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGG AAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0026 a0007c0023t0026	a0007c0023t0026g0031 a0007c0023t0026g0031	1	228	0.0044	468	c.259 others(489): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCC CACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTT CCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCC TTTCCTTCCCACCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21						chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	C C	CATATGCA others(461): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATG CATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACG TATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATA CCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTA TATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACG TACATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATA TGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTA CGTATACGTACATATACCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp1 HG02083.hp2 others(2): Show HG00438.hp2 HG02071.hp1 HG02083.hp2 NA18955.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0146 a0002c0002t0001g0063 a0002c0002t0001g0079 others(2): Show a0001c0001t0001g0146 a0002c0002t0001g0063 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0134	5	226	0.0221	468	c.137 others(489): Show c.1373-18118_1373-18117insGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATAT GTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTAC ATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGC ATGTATATGTACGTATACGTACATATACCTATATGCATGTATAT		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129578374	G G	GTATACGT others(461): Show GTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATAT ACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGT ATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATAC GTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATATGTACT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	226	0.0044	468	c.137 others(489): Show c.1373-18118_1373-18117insGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATAT GTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTAC ATATACCTATATGCATGTATATGTACTTATACGTACATATACCTATATGC ATGTATATGTACGTATACGTACATATACCTATATGCATGTATAT		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRD1_chr12_130948907_131146469	131046203	C C	CCCTGGTC others(461): Show CCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCTCCCTGGTCAGTGTCCTC CTGGTCAGTACTCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGTCCTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCT CCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGT CCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCT CCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCGTGGTCAGTGCT CCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCC CTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTG TCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAG TGTCCTCCCTTGTCAGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	242	0.0041	468	c.147 others(489): Show c.1474-30595_1474-30594insGGTCAGTGTCCTCCCTGGTCAATG CTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTACTCCCTCCCTGGTCAATG CTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGTTCAG TGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTC AGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCAG TGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTC AGTGTCCTCCGTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAG TGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTC AGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCCTCCCTGG TCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCT		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ALK_chr2_29187774_29926586	29831105	G G	GAGCAGGA others(461): Show GAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGA GGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGC AGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAG CAGGAGGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGCA GGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGG AGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAG CAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGA GGAGCAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGGAGGAGGAGGAGG AGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGAAGCAGAAGCAG AAGCAGCAGAAGCAGAAGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0002 a0003c0041t0002	a0003c0041t0002g0046 a0003c0041t0002g0046	1	80	0.0125	468	c.667 others(487): Show c.667+88887_667+88888insGCTTCTGCTTCTGCTGCTTCTGCTTC TGCTTCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTC CTCCTCCTCCTCCTGCTCCTGCTCCTCCTCCTCCTCCTGCTCCTCCTCCT CCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGC TCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTC CTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCT GCTCCTGCTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCC TCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTC CTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCT CCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(461): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGGAG GGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGA GGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGG GGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGG GGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0029 a0029	a0029c0040 a0029c0040	a0029c0040t0012 a0029c0040t0012	a0029c0040t0012g0160 a0029c0040t0012g0160	1	350	0.0029	468	c.248 others(483): Show c.2483+67_2483+68insCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCG CCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCC CCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCTCCCCCT CCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCC CTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCA CCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCAC CCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCA CCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(461): Show AGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp2 HG01099.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0168 a0001c0001t0001g0169	2	334	0.0060	468	c.838 others(483): Show c.838-693_838-692insCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(461): Show AGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	334	0.0030	468	c.838 others(483): Show c.838-693_838-692insCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(461): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	334	0.0030	468	c.838 others(483): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(461): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	334	0.0030	468	c.838 others(483): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(461): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp2 HG02074.hp2 others(1): Show HG00597.hp2 HG02027.hp2 HG02074.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0194 a0001c0001t0001g0278 others(1): Show a0001c0001t0001g0171 a0001c0001t0001g0194 a0001c0001t0001g0278 a0001c0001t0001g0304	4	334	0.0120	468	c.838 others(483): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12						chr15	TogoVar

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