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
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(389): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	220	0.0045	396	c.803 others(410): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC191_chr3_113959137_114061526	114039709	T T	TAGTTTTT others(389): Show TAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATGTCTGTTATTTTTT ATTTGAAGACAGACATTATACATTTTGTGTTGTCAGGGGCTATATTTTGT ATTCTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGG GTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGG GAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCA GAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATT AGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTT AACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02965.hp1 others(2): Show HG01891.hp2 HG02615.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp1	a0001 a0011 a0001 a0011	a0001c0005 a0001c0009 a0011c0026 a0001c0005 a0001c0009 a0011c0026	a0001c0005t0001 a0001c0009t0001 a0011c0026t0001 a0001c0005t0001 a0001c0009t0001 a0011c0026t0001	a0001c0005t0001g0355 a0001c0005t0001g0356 a0001c0005t0001g0357 others(2): Show a0001c0005t0001g0355 a0001c0005t0001g0356 a0001c0005t0001g0357 a0001c0009t0001g0358 a0011c0026t0001g0359	5	377	0.0133	396	c.416 others(413): Show c.416-2924_416-2923insCCACTCAGGGTTAAATGGATTAAGGGCG GTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTA AGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGC GGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACT TGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAAT CCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAA AAAAAAAAAAAAAAAGAATACAAAATATAGCCCCTGACAACACAAAATGT ATAATGTCTGTCTTCAAATAAAAAATAACAGACATCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACT	CCDC191	ENSG00000163617.11	transcript	ENST00000295878.8	protein_coding	4/16			chr3	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(389): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATATTATATAAAATATATATTATATT ATATATAATATATATTATATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATAATATATATTATATAAAATATATATTATATAATAT ATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	92	0.0109	396	c.154 others(415): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATATTATATAAAATATATATTAT ATTATATATAATATATATTATATAAAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATAATATATATTATATAAAATATATATTATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905991	T T	TATATAAT others(389): Show TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTATATAAAATATATATTATATTATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTTTATAAAATATATATTA TATTATATAATATATATTTTATAAAATATATATTATATTATATATAATAT ATATTATATAAAATATATATTATATTATATAATATATATTATATAAAATA TATATTATATTTTATAATATATATTATATAAAATATATATTATATTA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18984.hp2 NA18969.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0117 a0001c0001t0001g0084 a0001c0001t0001g0117	2	280	0.0071	396	c.154 others(415): Show c.1546+1200_1546+1201insATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATATTA TATAATATATATTATATAAAATATATATTATATTTTATAATATATATTAT ATAAAATATATATTATATTA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293482	T T	TCACCTTC others(389): Show TCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGC CAGAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTC ACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACA GCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACCT GCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCAT CCTCACCTGCCACGGCTCACCTTCCTGTCCCCTCACCTGCCACGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0256 a0001c0009t0002g0256	1	253	0.0040	396	c.411 others(413): Show c.4112+690_4112+691insGGCCGTGGCAGGTGAGGGGACAGGAAGG TGAGCCGTGGCAGGTGAGGATGGGAAGGTGGGCCGTGGCAGGTGAGGGGA CAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTCTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGG AAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCA GGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(389): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCAC AGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp1 HG02027.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0162 a0001c0001t0001g0163	2	206	0.0097	396	c.411 others(413): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCCGTGGCAGGTGA GGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAC GTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGT GAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(389): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19010.hp2 NA18995.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0174 a0001c0001t0004g0180 a0001c0001t0001g0174 a0001c0001t0004g0180	2	13	0.1538	396	c.-45 others(417): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278742	C C	CCCCTCCC others(389): Show CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	253	0.0040	396	c.-45 others(417): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCTCCTCTCCCCTCCC CTCCCCTCTCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(389): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	273	0.0037	396	c.487 others(413): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(389): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	273	0.0037	396	c.487 others(413): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(389): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	200	0.0050	396	c.12 others(407): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(389): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	200	0.0050	396	c.12 others(407): Show c.1214_*1215insTATAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(389): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCT TCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCT CCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	8	0.1250	396	c.69 others(407): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCTCCCTTCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCC CCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCC TCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(389): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCC TTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCT TCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCT CCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	8	0.1250	396	c.69 others(407): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCT TCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCC CCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCC TCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(389): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACA CGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATATA CGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0253 a0001c0001t0006g0253	1	240	0.0042	396	c.894 others(411): Show c.894+674_894+675insCGTATATACACACGTATATGAGTATATATA CGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACGTA TATGAGTATATATACGTGTATATACACACGTATATGAGTATATATACGTG TATATACACACGTATATGAGTATATATACGTGTATATACACACGTATATG AGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLTCL1_chr22_19174473_19296719	19202377	A A	AGCACCTC others(389): Show AGCACCTCCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCG CCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACC TCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCC TCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCC ACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCC ACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTC CGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCCACG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0190 a0001c0004t0003g0190	1	344	0.0029	396	c.360 others(413): Show c.3601-885_3601-884insCGTGGATGGCGGAAGGAGGGGTGGTGCG GGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGA TGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGG GTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGT GCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGCGGGAGGTGC	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(389): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCG CCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACC TCCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp1 others(35): Show HG00099.hp2 HG00140.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG02071.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02602.hp1 HG02622.hp2 HG03688.hp1 HG04184.hp2 NA18952.hp2 NA18975.hp1 NA18980.hp1 NA18999.hp2 NA19004.hp2 NA21309.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0015 a0023	a0001c0003 a0001c0004 a0001c0023 others(5): Show a0001c0003 a0001c0004 a0001c0023 a0001c0031 a0002c0001 a0007c0009 a0015c0025 a0023c0032	a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 others(6): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0023t0001 a0001c0031t0003 a0002c0001t0002 a0007c0009t0001 a0015c0025t0003 a0023c0032t0005	a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0004t0001g0011 others(32): Show a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0004t0001g0011 a0001c0004t0003g0007 a0001c0004t0003g0012 a0001c0004t0003g0053 a0001c0004t0003g0162 a0001c0004t0003g0182 a0001c0004t0003g0183 a0001c0004t0003g0184 a0001c0004t0003g0189 a0001c0004t0003g0191 a0001c0004t0003g0192 a0001c0004t0003g0193 a0001c0004t0003g0194 a0001c0004t0003g0195 a0001c0004t0003g0196 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0301 a0001c0004t0003g0302 a0001c0004t0003g0304 a0001c0004t0003g0305 a0001c0004t0003g0306 a0001c0004t0003g0307 a0001c0004t0003g0309 a0001c0004t0003g0310 a0001c0004t0003g0313 a0001c0004t0003g0314 a0001c0023t0001g0287 a0001c0031t0003g0308 a0002c0001t0002g0038 a0007c0009t0001g0088 a0015c0025t0003g0267 a0023c0032t0005g0331	38	94	0.4043	396	c.360 others(413): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGC GGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGG TGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCG TGGATGGCGGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(389): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCG CCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCCACGGCACC TCCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02155.hp1 HG02572.hp1 others(2): Show HG01884.hp1 HG02155.hp1 HG02572.hp1 HG02965.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0003 a0002c0001t0002 a0001c0004t0003 a0002c0001t0002	a0001c0004t0003g0091 a0001c0004t0003g0180 a0001c0004t0003g0187 others(2): Show a0001c0004t0003g0091 a0001c0004t0003g0180 a0001c0004t0003g0187 a0001c0004t0003g0188 a0002c0001t0002g0082	5	61	0.0820	396	c.360 others(413): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG CGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGC GGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGG TGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCG TGGATGGCGGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(389): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGTCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCG CCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACC ACCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp1 NA20129.hp1 HG02809.hp1 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0179 a0001c0003t0001g0006 a0001c0003t0001g0179	3	59	0.0508	396	c.360 others(413): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGCGGGTGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGC GGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGG TGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCG TGGATGGCGGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(389): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGTCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCG CCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACC TCCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(75): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02717.hp2 HG02738.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18968.hp2 NA18970.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18985.hp1 NA18986.hp1 NA18993.hp1 NA18994.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp2	a0001 a0006 a0010 others(3): Show a0001 a0006 a0010 a0011 a0016 a0021	a0001c0002 a0006c0008 a0010c0013 others(3): Show a0001c0002 a0006c0008 a0010c0013 a0011c0015 a0016c0021 a0021c0017	a0001c0002t0001 a0006c0008t0001 a0010c0013t0001 others(3): Show a0001c0002t0001 a0006c0008t0001 a0010c0013t0001 a0011c0015t0001 a0016c0021t0001 a0021c0017t0001	a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0009 others(71): Show a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0115 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0006c0008t0001g0092 a0006c0008t0001g0205 a0006c0008t0001g0223 a0006c0008t0001g0229 a0006c0008t0001g0230 a0006c0008t0001g0231 a0006c0008t0001g0232 a0010c0013t0001g0239 a0010c0013t0001g0259 a0011c0015t0001g0296 a0011c0015t0001g0297 a0016c0021t0001g0212 a0021c0017t0001g0225	78	134	0.5821	396	c.360 others(413): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGC GGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGG TGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCG TGGATGGCGGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202405	C C	CCATCCAC others(389): Show CCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACC TCCCCCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCCCACCACCCC TCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCC ACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCC ACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTC CGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCA CCTCCCCCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACC CCTCCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp1 HG01258.hp1 HG00735.hp2 HG01256.hp1 HG01258.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0101 a0004c0006t0003g0102 a0004c0006t0003g0113 a0004c0006t0003g0101 a0004c0006t0003g0102 a0004c0006t0003g0113	3	328	0.0091	396	c.360 others(413): Show c.3601-913_3601-912insACGGAAGGAGGGGTGGTGCGGGAGGTGC CGTGGATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAA GGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGG GGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGA TGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGG GTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGT GCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGACGG AAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(389): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGGGAG GGCGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGG AGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAA GGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGAG GGGAAGGGAGGGGAAGGGGAGGGAAGGGAGGAGGAGGGAAGGGGAAGGGA AGGGGAGGGAAGGGAGGAGGGAGGGAAGGGAAGGGGAAGGGAAGGGGAGG GAAGGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	263	0.0038	396	c.637 others(411): Show c.637+147_637+148insTCCCCTTCCCCTCCCCTCCCCTCCCCTTCC CCTCTCCCTCTCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTTCCCTCCCT CCTCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTCCTCCTCCCTTCCCTCC CCTTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCC CTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCT TCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCC CTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTT CCCCTCCCCCTGCCGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCC CTCCCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(389): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGC AGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGG AGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAG GGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGG GGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAA GGGAAGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG02080.hp2 others(20): Show HG00438.hp2 HG00621.hp2 HG02080.hp2 HG02132.hp1 HG02155.hp2 HG02602.hp1 NA18941.hp1 NA18942.hp1 NA18959.hp2 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18985.hp2 NA18991.hp1 NA18998.hp1 NA19010.hp1 NA19060.hp2 NA19066.hp2 NA19082.hp2 NA19083.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0018 a0001c0001 a0002c0018	a0001c0001t0001 a0002c0018t0001 a0001c0001t0001 a0002c0018t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 others(20): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0236 a0001c0001t0001g0243 a0002c0018t0001g0164	23	205	0.1122	396	c.637 others(411): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL19A1_chr6_69861556_70217468	69920962	G G	GTATATTC others(389): Show GTATATTCATATATATGATATATATCATATATACATATGATATATACATG ATATATATGATATATATGATACATATGATATATATGATATATATGATACA TATGATATATATGATATATATATGATACAAATGATATATATGATATATAT GATATATATCAGATATATATATCATATATATCATTTGTATCATATATACA TCATATATATCATATGTATCATATATATCATGTATATATCATATATATCA TATATATCATATATGTATTCATATATATCATATATATTCATATATAATAT ATATTCATATATAATATATATTCATATATATCATATATATTCATATATAT ATCATATATATTCATATATATCATATATATTCATATATATATTCATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0128 a0002c0009t0004g0128	1	176	0.0057	396	c.267 others(413): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATCATATATATCATTTGTAT CATATATACATCATATATATCATATGTATCATATATATCATGTATATATC ATATATATCATATATATCATATATGTATTCATATATATCATATATATTCA TATATAATATATATTCATATATAATATATATTCATATATATCATATATAT TCATATATATATCATATATATTCATATATATCATATATATTCATATATAT ATTCATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920962	G G	GTATATTC others(389): Show GTATATTCATATATATGATATATATCATATATACATATGATATATACATG ATATATATGATATATATGATACATATGATATATATGATATATATGATACA TATGATATATATGATATATATATGATACAAATGATATATATGATATATAT GATATATATCAGATATATATATCATATATATCATTTGTATCATATATACA TCATATATATCATATGTATCATATATATCATGTATATATCATATATATCA TATATATCATATATGTATTCATATATATCATATATATTCATATATAATAT ATATTCATATATCATATATATTCATATATATCATATATATTCATATATAT ATCATATATATTCATATATATCATATATATTCATATATATATTCATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0106 a0009c0019t0001g0106	1	176	0.0057	396	c.267 others(413): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATCATATATATCATTTGTAT CATATATACATCATATATATCATATGTATCATATATATCATGTATATATC ATATATATCATATATATCATATATGTATTCATATATATCATATATATTCA TATATAATATATATTCATATATCATATATATTCATATATATCATATATAT TCATATATATATCATATATATTCATATATATCATATATATTCATATATAT ATTCATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098126	T T	TATATATA others(389): Show TATATATATAAATATATATATAAATATATATATAAATATATATATAAATA TATATATATAAATATATATAAATATATAACTATATAAATAAATATATATA AATATATAAATATATAAAAAATATATATAAATATATATGTAAATATATAA ATATATATAAATATATATAAGTATATAAATATATATATAAATATATATAA GTATATAAATATATATATAAATATATATAAGTATATAAATATATATAAAT ATATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAAT ATATATAAATATATATAGTATATATAAATATATAAAAATATATATAAGTA TATATAAATATATATAAATATATATAAATATATGCAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	242	0.0041	396	c.181 others(415): Show c.1812+3345_1812+3346insTTATATATATTTGCATATATTTATAT ATATTTATATATATTTATATATACTTATATATATTTTTATATATTTATAT ATACTATATATATTTATATATATTTATATATACTTATATATATTTATATA TATATTTATATACTTATATATATTTATATATATTTATATACTTATATATA TTTATATATATATTTATATACTTATATATATTTATATATATATTTATATA CTTATATATATTTATATATATTTATATATTTACATATATATTTATATATA TTTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATATAT TTATATATATTTATATATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A2_chr13_110302284_110518209	110355712	T T	TGGGGAGG others(389): Show TGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGGGAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTG GGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGG GGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGC TCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGG GGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCT CACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0305 a0001c0028t0002g0305	1	195	0.0051	396	c.100 others(413): Show c.100-1729_100-1728insGGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGTAGGGCT GCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGT GTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGC ACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTG TGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355824	C C	CTAGCTCA others(389): Show CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG GGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0018 a0002c0041t0018	a0002c0041t0018g0003 a0002c0041t0018g0003	1	341	0.0029	396	c.100 others(413): Show c.100-1631_100-1630insTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGT GTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGC ACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTG TGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA GTAGCTCACCTGTGTGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYP4F11_chr19_15907377_15939529	15933776	G G	GTGAGCGG others(389): Show GTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGG AGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGA GTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGC AGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGA GTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGG AGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGA GTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGG AGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0167 a0001c0002t0043g0167	1	378	0.0026	396	c.198 others(411): Show c.198+434_198+435insTTCCTCTCCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCC CGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCA TTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCA TTCCTCTGCCCGCTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DDX51_chr12_132131594_132149319	132149256	C C	CGCCGCCT others(389): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	396	c.-49 others(407): Show c.-4961_-4960insCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGA GCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGG CGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCCG CACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCA CCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGG GGATTAGGGGTGTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTG TGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGCGAGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4938		chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(389): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	164	0.0061	396	c.-42 others(407): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(389): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATACATATATT ATATGCATATAATATATACATATATTATATGCATATAATATATACATATA TTATATGCATATAATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	4	0.2500	396	c.126 others(413): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATGTATATATTATATGCATATAATATATGTATATATTATATGCATATA ATATATGTATATATTATATGCATATAATATATGTATATATTATATGCATA TAATATATATGTATATCATATAATATATAATATATAATTATATATTATAT ATCATAATATGTAATATATAATTATATATTACATATATATATTTTAATAT ATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DGKH_chr13_42043648_42247896	42197253	A A	AACAACAA others(389): Show AACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATGA TGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTC TCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTC ATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATAT CACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAATTAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02886.hp1 others(2): Show HG02145.hp2 HG02818.hp2 HG02886.hp1 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0008 a0001c0003t0013 a0001c0003t0112 others(1): Show a0001c0003t0008 a0001c0003t0013 a0001c0003t0112 a0001c0013t0001	a0001c0003t0008g0214 a0001c0003t0013g0009 a0001c0003t0013g0015 others(2): Show a0001c0003t0008g0214 a0001c0003t0013g0009 a0001c0003t0013g0015 a0001c0003t0112g0064 a0001c0013t0001g0231	5	301	0.0166	396	c.216 others(415): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC GTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAATTAAAAAAAAAAAATA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42197253	A A	AACAACAA others(389): Show AACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATGA TGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTC TCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTC ATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATAT CACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAATTAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01070.hp1 others(10): Show HG00735.hp1 HG00741.hp1 HG01070.hp1 HG02055.hp1 HG02683.hp2 HG02809.hp2 HG03195.hp2 HG03225.hp2 HG03704.hp2 NA18979.hp1 NA18999.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0013 a0001c0003 a0001c0006 a0001c0013	a0001c0003t0119 a0001c0006t0001 a0001c0006t0004 others(5): Show a0001c0003t0119 a0001c0006t0001 a0001c0006t0004 a0001c0006t0021 a0001c0006t0022 a0001c0006t0036 a0001c0006t0082 a0001c0013t0049	a0001c0003t0119g0310 a0001c0006t0001g0105 a0001c0006t0001g0168 others(10): Show a0001c0003t0119g0310 a0001c0006t0001g0105 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0106 a0001c0006t0021g0038 a0001c0006t0022g0107 a0001c0006t0022g0108 a0001c0006t0022g0285 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0006t0082g0016 a0001c0013t0049g0302	13	309	0.0421	396	c.216 others(415): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC GTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAATTAAAAAAAAAAAAATA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DIRAS1_chr19_2709567_2726372	2713430	C C	CCCTCACT others(389): Show CCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCATCA CTGTCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT CCACGCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0014 a0001c0001t0011g0014	1	397	0.0025	396	c.37 others(407): Show c.3779_*3780insAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGAT GAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG GGGTGGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGA TGGGTGTAGACAGTGATGGATGGGATGAAGGGTGGAGGAGGTGATGGGTG TAGGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1136		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(389): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCC CTCACTTCCTCCACGCACCACCCCCTCCACCCTTCATCCCATCCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	73	0.0137	396	c.36 others(407): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTGCG TGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(389): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19080.hp1 NA19005.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0005g0007 a0001c0001t0002g0001 a0001c0001t0005g0007	2	74	0.0270	396	c.36 others(407): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATG GGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713581	C C	CCACCCCC others(389): Show CCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTAATGCCATCTCTCACTTCCTACACCCATCACCTCCTCCACCCTTC ATCCCATCCATCACTGTCTACACCCATCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTCCACGCACCACCCCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	360	0.0028	396	c.36 others(407): Show c.3628_*3629insACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTGCGTGG AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGACAG TGATGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGAG ATGGCATTAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGA TGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGG GTGGAGGGGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		985		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713600	T T	TCCCATCC others(389): Show TCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTAATGCCAT CTCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCATCA CTGTCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT CCACGCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	380	0.0026	396	c.36 others(407): Show c.3609_*3610insGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGAT GAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG GGGTGGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGA TGGGTGTAGACAGTGATGGATGGGATGAAGGGTGGAGGAGGTGATGGGTG TAGGAAGTGAGAGATGGCATTAAGGGTGGAGGAGGTGGTGGGTGTAGGAA GTGAGGGATGGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		966		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713757	C C	CCACCTCC others(389): Show CCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCT CCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	378	0.0026	396	c.34 others(407): Show c.3452_*3453insACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGT AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAG TGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGG ATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGA TGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGG GTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		809		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713761	C C	CTCCTCCA others(389): Show CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTC CACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCT TCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCC CATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCC TCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTT CCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCA CCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCATC ACCTCCTCCACCCTTCACACCATCCCTCACTTCCTACACCCACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	408	0.0025	396	c.34 others(407): Show c.3448_*3449insAGTGGTGGGTGTAGGAAGTGAGGGATGGTGTGAA GGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGG AGGAGGTGGTGGGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGG TGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGG GTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAG GAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTG AGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGAT GGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATG AAGGGTGGAGGA	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		805		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713801	T T	TCACCTCC others(389): Show TCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTC ACTTCCTACAACCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC CGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	379	0.0026	396	c.34 others(407): Show c.3408_*3409insGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGAC GGTTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAG TGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGG ATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGA TGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGG GTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		765		chr19	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(389): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02257.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0183 a0001c0001t0001g0187	2	161	0.0124	396	c.162 others(413): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCT CCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK8_chr9_209865_470255	400769	A A	ACCACCAC others(389): Show ACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCAC CATCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCA CCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCA CTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACC ACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0034 a0034	a0034c0091 a0034c0091	a0034c0091t0003 a0034c0091t0003	a0034c0091t0003g0019 a0034c0091t0003g0019	1	249	0.0040	396	c.323 others(415): Show c.3234+1521_3234+1522insTCCACCACCAGCACTTCCACCATCAC CACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCC ACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTC CACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCT CCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634611	C C	CCCTTCCT others(389): Show CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	192	0.0052	396	c.105 others(413): Show c.105-1295_105-1294insTTCCTTCTCCTTTCCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(389): Show ATATTTACACATATATATGTAAATATACCTATGTGTATATTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTAAATATACCTATGTGTATGTTTACACATATATGT AAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGT GTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACAT ATATGTGTAAATATACCTATATGTTTACACATATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG03139.hp2 others(2): Show HG02559.hp1 HG02647.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0011g0376 others(2): Show a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0011g0376 a0001c0001t0011g0379 a0001c0001t0011g0385	5	7	0.7143	396	c.477 others(415): Show c.477+47644_477+47645insATATTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATGTAAATATACCTATGTGTATGTTTACACATATATGTAAATATACCTAT GTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACAC ATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAAT ATACCTATATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTGTATTTACACATATAT ATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(389): Show ATATTTACACATATATATGTAAATATACCTATGTGTATATTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTAAATATAGCTATGTGTATGTTTACACATATATGT AAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGT GTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACAT ATATGTGTAAATATACCTATATGTTTACACATATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0386 a0001c0001t0011g0386	1	3	0.3333	396	c.477 others(415): Show c.477+47644_477+47645insATATTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATGTAAATATAGCTATGTGTATGTTTACACATATATGTAAATATACCTAT GTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACAC ATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAAT ATACCTATATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTGTATTTACACATATAT ATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATTAAA others(389): Show ATATTAAATTATATATAATATATATTATATATATAATTTATATATATAAA ATATATTATATATTATATAAATATATATATTTTATATATATAAAATATAT ATTTTATAATATATAATATAGAAATATATATTATATAATATATAATTATA TATAATTATATATTATATAATATATATTTCTATATTATATATTTATAATG TATAATATATAAATATATTATAAATATATATTATATACTATATAATGCAT TATAAATATATTATATTTATATATTATAAATATATTACATATTTATATAT TATATATATAATATATATTATATATTATAAATATATTTTATAAAATATAA TATATATATTATTATTATATTTTATAAAATATAATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG01891.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0037 a0001c0004t0010 a0001c0001t0037 a0001c0004t0010	a0001c0001t0037g0160 a0001c0004t0010g0007 a0001c0001t0037g0160 a0001c0004t0010g0007	2	93	0.0215	396	c.551 others(415): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATAATAATATATATATTATATTTTATAAAATATATTTATAATAT ATAATATATATTATATATATAATATATAAATATGTAATATATTTATAATA TATAAATATAATATATTTATAATGCATTATATAGTATATAATATATATTT ATAATATATTTATATATTATACATTATAAATATATAATATAGAAATATAT ATTATATAATATATAATTATATATAATTATATATTATATAATATATATTT CTATATTATATATTATAAAATATATATTTTATATATATAAAATATATATA TTTATATAATATATAATATATTTTATATATATAAATTATATATATAATAT ATATTATATATAATTTAATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EXOC2_chr6_480154_698139	519226	C C	CCACCGAG others(389): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACCCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACCCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAACCACCACGCAC CGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02040.hp2 HG03669.hp2 HG01261.hp1 HG02040.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0064 a0001c0001t0003g0137 a0001c0003t0003g0185 a0001c0001t0001g0064 a0001c0001t0003g0137 a0001c0003t0003g0185	3	236	0.0127	396	c.238 others(417): Show c.2380+13242_2380+13243insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTAGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBN2_chr5_128252909_128543245	128540067	C C	CATATATA others(389): Show CATATATATCATATCTATCATATATATCATATATATCATATCTATCATAT ATCATATATCATATATCATATATATCATATATCATATATATCATATATAT CATATATCATATATCATATATATCATATATCATATATCATATATATCATA TATCATATATCATATATATCATATATCATATATCATATATATCATATATA TCATATATCATATATATCATATATATCATATATCATATATATCATATATA TCATATATCATATATATCATATATATCATATATCATATATATCATATATA TCATATATCATATATATCATATATATCATATATCATATATATCATATATA TCATATATCATATATATCAATCATATATATTATATATCATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0057 a0002c0007t0006g0057	1	197	0.0051	396	c.-24 others(407): Show c.-2465_-2464insATGATATATGATATATAATATATATGATTGATAT ATATGATATATGATATATATGATATATATGATATATGATATATATGATAT ATATGATATATGATATATATGATATATATGATATATGATATATATGATAT ATATGATATATGATATATATGATATATATGATATATGATATATATGATAT ATATGATATATGATATATATGATATATATGATATATGATATATGATATAT ATGATATATGATATATGATATATATGATATATGATATATGATATATATGA TATATGATATATGATATATATGATATATATGATATATGATATATATGATA TATGATATATGATATATGATAGATATGATATATATGATATATATGATAGA TATGATATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1823		chr5	TogoVar

Search by Variant

Search

Search Results