Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(376): Show CTATATATAGTTTATATATACTATATATAAACTATATATAGTAGTTATAT ATACTACTATATATACTACTATATATAGTATATACTATATATACACTATA TAGTAGTTATATATACTACTATATATACTACTATATATAGTATATACTAT ATATACACTATATATACACTATATATAGCATATATACTATATATACACTA TATATAGCATATATACTATATATACACTATATATAGTAGTTATATATACT ATATATACACTATACATACACTATATATAGTTTATATATACTATATATAG TAGTTATATATACTATATATACTATATATAGTAGTTATATATACTATATA TACTATATATAGTTTATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19063.hp2 NA18966.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0349 a0001c0001t0001g0350	2	375	0.0053	383	c.349 others(398): Show c.349+939_349+940insTTATATATACTATATATAAACTATATATAG TAGTTATATATACTACTATATATACTACTATATATAGTATATACTATATA TACACTATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATACACTATATATAGCATATATACTATA TATACACTATATATAGCATATATACTATATATACACTATATATAGTAGTT ATATATACTATATATACACTATACATACACTATATATAGTTTATATATAC TATATATAGTAGTTATATATACTATATATACTATATATAGTAGTTATATA TACTATATATACTATATATAGTTTATATATATACTATATATAGTATATAT AGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCCTCC others(376): Show CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCC TCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0231 a0001c0001t0012g0231	1	237	0.0042	383	c.-45 others(404): Show c.-455+14573_-455+14574insCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(376): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCT CTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0242 a0001c0001t0009g0242	1	12	0.0833	383	c.-45 others(404): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCTCTCCCTCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPH_chr5_69184583_69215357	69204022	T T	TATATAAA others(376): Show TATATAAATATATATAATATATAAATATATATAATTTCTATATATATTAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATAGA ATATATATATATAGAATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	146	0.0068	383	c.487 others(400): Show c.487+1052_487+1053insATATAAATATATATAATATATAAATATA TATAATTTCTATATATATTATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATAGAATATATATATATAGAATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAA	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881816	C C	CTATATAG others(376): Show CTATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATAT ATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATA GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATATATAGATACATCTATATAGATATATA GATACATCTATATATATAGATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	395	0.0025	383	c.13 others(394): Show c.1360_*1361insTCTATATAGATGTATCTATATATATAGATGTATC TATATATCTATATAGATGTATCTATATATATAGATGTATCTATATATCTA TATAGATGTATCTATATATCTATATAGATGTATCTATATAGATGTATCTA TATATCTATATAGATGTATCTATATATCTATATAGATGTATATATATCTA TATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGA TGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATATAGATTATATATCTATATAGATGCATCTATATATCTAT ATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		462		chr13	TogoVar
CNOT1_chr16_58514951_58634826	58586389	G G	GGAGGGCA others(376): Show GGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGG GAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG AAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGG AGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGA AGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAA GGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGA AAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01934.hp1 HG01981.hp2 others(3): Show HG00733.hp2 HG01934.hp1 HG01981.hp2 HG02258.hp2 HG02602.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0033 a0001c0003t0002g0034 others(3): Show a0001c0003t0002g0003 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0047	6	300	0.0200	383	c.637 others(398): Show c.637+155_637+156insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTC CCTTTCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCT CCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTC CCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCC CCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGC CCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCC CTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCC CTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(376): Show CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGC AGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGG AGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGA GGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGA AGGGGAAGGGAAGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGG GGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	189	0.0053	383	c.637 others(398): Show c.637+150_637+151insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTTCCCTTC CCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCCTCCCCTTCCCC TCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTT CCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCTC CCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTC CCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGC CCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC CCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(376): Show CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGC AGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGG AGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGA GGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGA AGGGGAAGGGAAGGGGAGGGAAGGGAAGGGGAAGGGAAGGGGAGGGAAGG GGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG00738.hp1 others(28): Show HG00323.hp2 HG00673.hp1 HG00738.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01978.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG02976.hp1 HG03225.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp2 NA18941.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18979.hp2 NA18990.hp1 NA18997.hp1 NA19004.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0007 a0006c0009 a0001c0002 a0001c0007 a0006c0009	a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0007t0001 a0006c0009t0001	a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0001g0100 others(28): Show a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0003g0080 a0001c0002t0010g0107 a0001c0007t0001g0086 a0001c0007t0001g0103 a0001c0007t0001g0129 a0001c0007t0001g0136 a0006c0009t0001g0127	31	219	0.1416	383	c.637 others(398): Show c.637+150_637+151insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTTCCCTCCCCTTCCCTTC CCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCCTCCCCTTCCCC TCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTT CCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCTC CCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTC CCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGC CCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC CCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL18A1_chr21_45400165_45518720	45500945	G G	GGTGTGGT others(376): Show GGTGTGGTTTGGTGTGTGTGTGTGGGTGTGTGTGGGGGTGTGGTGGTGTG GTGGGGTGTAGTGTGGGGGTGGGTTGGGTGTGTGTGGGTGTGGGTGGGTG TGTGGGTGTGTGGGTGGTGTGTGTGGGGTGTGGTTGGGGTGTGTGGGTGT GTGGGTGGGTGTGTGGGGGGTGTGGTTGGGGTGTGTTGGGTGTGTGTGTG GGGGGTGGGTGTGGTGTGGGTGTGGTGGGGGGTGTGGGTGTGTGTGGGGG GTGTGGTTTGGTGGTGGGTGGGTGTGTGTGGGGGGGTGGTGGTGTGTGGG TGTGGGTGGGGGGGGGTGGGGGTGTGGTGTGGGGGTGTGTGGGGTGTGAG TGTGTGTGAGTTGGGTGTGTTGTGTGGGTGGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	290	0.0034	383	c.268 others(402): Show c.2684-3044_2684-3043insGGGTGTGTGTGGGGGTGTGGTGGTGT GGTGGGGTGTAGTGTGGGGGTGGGTTGGGTGTGTGTGGGTGTGGGTGGGT GTGTGGGTGTGTGGGTGGTGTGTGTGGGGTGTGGTTGGGGTGTGTGGGTG TGTGGGTGGGTGTGTGGGGGGTGTGGTTGGGGTGTGTTGGGTGTGTGTGT GGGGGGTGGGTGTGGTGTGGGTGTGGTGGGGGGTGTGGGTGTGTGTGGGG GGTGTGGTTTGGTGGTGGGTGGGTGTGTGTGGGGGGGTGGTGGTGTGTGG GTGTGGGTGGGGGGGGGTGGGGGTGTGGTGTGGGGGTGTGTGGGGTGTGA GTGTGTGTGAGTTGGGTGTGTTGTGTGGGTGGTGTGTGTGGTTTGGTGTG TGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(376): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	235	0.0043	383	c.630 others(398): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCC GGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGG CGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
DCDC2_chr6_24166755_24363059	24238178	G G	GAGGGAGG others(376): Show GAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAA TGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGG GGAGGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAG GGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAG GGGAAGGGGAGGGGGGAGGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0207 a0004c0007t0007g0207	1	197	0.0051	383	c.923 others(402): Show c.923-33077_923-33076insTCCCCTCCCCCTCCCCCTCCCCCCTC CCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTC CCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTC CCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCC TCCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTT CCTCCCT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958279	T T	TCACTACT others(376): Show TCACTACTATAACCACCACCACCACCACCACCACCACTATAATCATTACC ACTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTAT AACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTA TAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGAC CAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCA CTACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACC ACCACCACCATCACTATAACCATCACCATCATCACCACTATAACCACCAC TACCACCACCACCACCAGTTATAACCATCACCAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00673.hp2 others(9): Show HG00438.hp1 HG00558.hp1 HG00673.hp2 HG02040.hp1 HG02148.hp1 HG02155.hp2 NA18945.hp2 NA18963.hp1 NA18977.hp1 NA18992.hp1 NA19004.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0003t0001 a0001c0006t0003 a0001c0007t0003 a0001c0007t0034 a0002c0019t0002	a0001c0001t0001g0042 a0001c0001t0001g0099 a0001c0001t0001g0112 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0002g0047 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0027g0034 a0001c0003t0001g0048 a0001c0006t0003g0153 a0001c0007t0003g0113 a0001c0007t0034g0018 a0002c0019t0002g0167	12	148	0.0811	383	c.724 others(402): Show c.724-10823_724-10822insGTGGTGATGGTTATAACTGGTGGTGG TGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGGTTATAGTGATG GTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGT GGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTCCTATC CCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTGGCATT GGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTG GTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTGGTTAT AGTAGTG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIP2C_chr10_269201_694668	523503	C C	CACCCGCA others(376): Show CACCCGCACACTCGTTTCTACCGGATGCAAAGGACCCTGGAGTGAAGATG CAGGGACTCTGCGTGACCCACACACTCGTTTCCACCTGAGCAAAGGACCC TGGAGTGAGGATGCAGGGACTCTGCATGACCCACACGCTCGTTTCCACAT GACACAAAGGACCCTGGAGTGAGGATGCAGGGACTCTGTGTGACCCGCAC ACTCGTTTCTACCGGATGCAAAGGACCCTGGAGTGAAGATGCAGGGGCTC TGTGTCACCCACACACTCGTTTCTACTGGATGCAAAGGACCCTGGAGTGA AGATGCAGGGACTCTGTGTCACCCGCACACTCGTTTCTACCGGATGCAAA GGACCCTGGAGTGAAGATGCAGGGACTCTGCGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	70	0.0143	383	c.86- others(400): Show c.86-36974_86-36973insCACGCAGAGTCCCTGCATCTTCACTCCA GGGTCCTTTGCATCCGGTAGAAACGAGTGTGCGGGTGACACAGAGTCCCT GCATCTTCACTCCAGGGTCCTTTGCATCCAGTAGAAACGAGTGTGTGGGT GACACAGAGCCCCTGCATCTTCACTCCAGGGTCCTTTGCATCCGGTAGAA ACGAGTGTGCGGGTCACACAGAGTCCCTGCATCCTCACTCCAGGGTCCTT TGTGTCATGTGGAAACGAGCGTGTGGGTCATGCAGAGTCCCTGCATCCTC ACTCCAGGGTCCTTTGCTCAGGTGGAAACGAGTGTGTGGGTCACGCAGAG TCCCTGCATCTTCACTCCAGGGTCCTTTGCATCCGGTAGAAACGAGTGTG CGGGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DMD_chrX_31114222_33216549	32554923	A A	AAGAAAGA others(376): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAA GAAAGGAAAGAAAGAAAGAAAGAGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0008	1	118	0.0085	383	c.199 others(402): Show c.1993-9590_1993-9589insCTCTCCCTCTCTCTTTCTTTCTTTCT TTCCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(376): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTT CCCTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	160	0.0063	383	c.162 others(400): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCTCCTTCCC TCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTC CTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOC2B_chr17_137789_186650	141440	A A	ACATGGTG others(376): Show ACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTGA GGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGT GAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACA TGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGAC CTTGGTGAGGAGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGG GACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGA GGAGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTGGTGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00280.hp2 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0277 a0001c0002t0016g0278 a0001c0002t0016g0277 a0001c0002t0016g0278	2	119	0.0168	383	c.60 others(394): Show c.6000_*6001insCCTCCTCACCAGGTCCCACCCATGTTCCCCTCAC CAGGTCCTCCTCACCAAGGTCCCCCCCATGTTCCCCTCACCAGGTCCTCC TCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCCCTCACCAAGGTC CCACCCATGTTCCCCTCACCAGGTCCCCTCACCAGGTCCTCCTCACCAAG GTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCACCCA TGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCACCCATGTTCCCCTC ACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCCC TCACCAGGTCCCCTCACCAGGTCCTCCTCACCATGCTCCCCTCACCATG	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1348		chr17	TogoVar
DOC2B_chr17_137789_186650	141440	A A	ACATGGTG others(376): Show ACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACTTGGTGA GGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGT GAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACA TGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGAC CTTGGTGAGGAGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGG GACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGA GGAGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTGGTGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0279 a0001c0002t0016g0279	1	118	0.0085	383	c.60 others(394): Show c.6000_*6001insCCTCCTCACCAGGTCCCACCCATGTTCCCCTCAC CAGGTCCTCCTCACCAAGGTCCCCCCCATGTTCCCCTCACCAGGTCCTCC TCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCCCTCACCAAGGTC CCACCCATGTTCCCCTCACCAGGTCCCCTCACCAGGTCCTCCTCACCAAG GTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCACCCA TGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCACCCATGTTCCCCTC ACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCCC TCACCAAGTCCCCTCACCAGGTCCTCCTCACCATGCTCCCCTCACCATG	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1348		chr17	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(376): Show CCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACC TCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCCACCACCA CCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCAGCACT TCCACCATCACCACCTCCTTCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACACCTCCACCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCT CCTTCACCATCACCACCTCCACCACCTCCACCATCACCACCACCACCTTC TCCACCACCACCACCACCAGCACTTCCACCATCA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	68	0.0147	383	c.323 others(402): Show c.3234+1214_3234+1215insTCCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCCACCACCACCTCCACCACCACCACCACCTCCACCAC CACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACACCTCCACCACCA CCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACC AGCACTTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACCTC CACCATCACCACCACCACCTTCTCCACCACCACCACCACCAGCACTTCCA CCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(376): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGT GTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19003.hp2 HG00673.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0098 a0001c0001t0001g0001 a0001c0001t0011g0098	2	225	0.0089	383	c.215 others(400): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAG GCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(376): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02809.hp2 others(4): Show HG02109.hp1 HG02451.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0002 a0002c0002t0002g0191 a0002c0002t0002g0192	7	230	0.0304	383	c.39 others(394): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCCCTCTCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCT CCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCT CTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCT CCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805308	G G	GACCTCTG others(376): Show GACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAACCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0003 a0006c0006t0001g0003	1	283	0.0035	383	c.11 others(394): Show c.1142_*1143insACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCTGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCC TCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1022		chr2	TogoVar
ICA1_chr7_8108184_8267167	8152562	A A	ACCACCAC others(376): Show ACCACCACCACATCTCCTTCACCACCACTACCCCCAGCACTACCACCATC ACCTCTTCCACCACTACCATCATCTCCTCCACCACCACTACCACCACCAC CACCATCTCCTTCACCACCACTACCCCCACCACTATCACCATCACCATCA CCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACC ACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCAC CACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACCACCATCA CCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACC ACTACCCCCACCACTATCACCATCACCATCACCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	260	0.0038	383	c.804 others(400): Show c.804+4553_804+4554insAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGG AGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTG GTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGT GATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGG TGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGGTGAAGGAG ATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGATGGTAGTGGTGGA AGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGTGGT GGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
KCNMB2_chr3_178531436_178849429	178758786	T T	TATCTCCA others(376): Show TATCTCCAAAAGGAGATATATATATATATATATATCTCCAAAAGGAGATA TATATATATATATATATCTCCAAAAGGAGATATATATATATATATATATC TCCAAAAGGAGATATATATATATATATATCTCCAAGAGGAGATATATATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTC CAAGAGGAGATATATATATATATATATCTCCAAGAGGGATATATATATAT ATATATATATATATATATATATATCTCCAAGAGGGATATATATATATATA TATATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	178	0.0056	383	c.-67 others(402): Show c.-67-48555_-67-48554insCTCCAAAAGGAGATATATATATATAT ATATATCTCCAAAAGGAGATATATATATATATATATATCTCCAAAAGGAG ATATATATATATATATATATCTCCAAAAGGAGATATATATATATATATAT CTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATATAT ATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATAT ATATATATATATATATATCTCCAAGAGGAGATATATATATATATATATCT CCAAGAGGGATATATATATATATATATATATATATATATATATATCTCCA AGAGGGATATATATATATATATATATATATATATATATATATATCTCCAA GAGGGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHDC4_chr16_87702812_87770986	87738668	T T	TCCACACA others(376): Show TCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACA CCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAG CACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02280.hp2 others(2): Show HG01884.hp1 HG01891.hp2 HG02280.hp2 HG02615.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 others(2): Show a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0002c0002t0001g0195	5	327	0.0153	383	c.507 others(400): Show c.507-8025_507-8024insGTGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGT GGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTG TGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738668	T T	TCCACACA others(376): Show TCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAG CACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20300.hp2 HG02622.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0272 a0001c0001t0001g0266 a0001c0001t0001g0272	2	324	0.0062	383	c.507 others(400): Show c.507-8025_507-8024insGTGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGT GGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTG TGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LRRC14_chr8_144512992_144530172	144513747	T T	TGAGGAGG others(376): Show TGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGG GAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCT GGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	412	0.0024	383	c.-44 others(394): Show c.-4406_-4405insGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTC GGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTG AGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4244		chr8	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(376): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATTATATATATAATAATATATATACAATATATAATTATAT ATTATATAATTATATATAATATATAATTATATATTATATATAATATATAA TTATATATTATATATAATATATAATTATATATTATATATAATATATAATT ATATATTATATAATAATATATAATTATTAATATATAATTATATATTATAT ATAATATATAATTATATATTATATAATAATATATAATTATATATTATATA TAATTATATATTATATAATAACATATAATTATATATAATATATAAATATA TAATATATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	57	0.0175	383	c.622 others(398): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATTATATATATAATAATATATATACAATATATAATTATATA TTATATAATTATATATAATATATAATTATATATTATATATAATATATAAT TATATATTATATATAATATATAATTATATATTATATATAATATATAATTA TATATTATATAATAATATATAATTATTAATATATAATTATATATTATATA TAATATATAATTATATATTATATAATAATATATAATTATATATTATATAT AATTATATATTATATAATAACATATAATTATATATAATATATAAATATAT AATATATAAATATATAATATATAAATATATATAATATATAATTATATATA ATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MEGF6_chr1_3482951_3616508	3578805	T T	TCCCCAGT others(376): Show TCCCCAGTGGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCT GGGGAGACCCAGCACCTCCGCAGAACCCCTCCTCAGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAACCCCTCCTCAGCCCG GCCCCCAGCGGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGA TGGGGAGACCCAGCACCTCTGCAGAACCCCTCCTCAGCCCGGCCCCCAGC GGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGATGGGGAGAC CCAGCACCTCTGCAGAACCCCTCCTCAGCCCGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0021 a0021	a0021c0072 a0021c0072	a0021c0072t0013 a0021c0072t0013	a0021c0072t0013g0252 a0021c0072t0013g0252	1	267	0.0037	383	c.481 others(400): Show c.481+1019_481+1020insGCCGGGCTGAGGAGGGGTTCTGCAGAGG TGCTGGGTCTCCCCATCGTTCTGAGCTGGGTGACACTCCTGCCCACTCCA CGTTCCGCTGGGGGCCGGGCTGAGGAGGGGTTCTGCAGAGGTGCTGGGTC TCCCCATCGTTCTGAGCTGGGTGACACTCCTGCCCACTCCACGTTCCGCT GGGGGCCGGGCTGAGGAGGGGTTCTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCTGAGGAGGGGTTCTGCGGAGGTGCTGGGT CTCCCCAGCGTTCTGAGCTGGGTGACACTCCTGCCCACTCCACGTTCCAC TGGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513747	T T	TGAGGAGG others(376): Show TGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGG GAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCT GGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	383	c.25 others(394): Show c.2583_*2584insGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTC GGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTG AGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2535		chr8	TogoVar
MME_chr3_155075319_155188704	155151919	T T	TTACCAAC others(376): Show TTACCAACCACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0097 a0001c0001t0052g0097	1	326	0.0031	383	c.160 others(402): Show c.1601+3281_1601+3282insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTACCAACC ACCTTCT	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(376): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAA GGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGATAAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	62	0.0161	383	c.225 others(400): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAAGG GAGGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MSH4_chr1_75791882_75918242	75906482	T T	TATACAAT others(376): Show TATACAATATTATATATATTATATATAATATATATACAATATTATATATA TTATATATAATATATATACAATATTATATATATTATATATATATACATAT ATATGTATATATACATATATAATATGTATATATGTATATATATATGTATA ATATATATATTGTATATATATATTATACATATGTATATATATATTATACA TATATATGTATAATATATATAATGTATATATATATACATATTATATATTA TATATAATATATACATATATATTATATATAATATATACATATTATATATT ATATATATAATATATATACATATTATATTATATATAATATATATACATAT TACATATATTATATATAATATATATACATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	319	0.0031	383	c.262 others(402): Show c.2620-6213_2620-6212insTACAATATTATATATATTATATATAA TATATATACAATATTATATATATTATATATAATATATATACAATATTATA TATATTATATATATATACATATATATGTATATATACATATATAATATGTA TATATGTATATATATATGTATAATATATATATTGTATATATATATTATAC ATATGTATATATATATTATACATATATATGTATAATATATATAATGTATA TATATATACATATTATATATTATATATAATATATACATATATATTATATA TAATATATACATATTATATATTATATATATAATATATATACATATTATAT TATATATAATATATATACATATTACATATATTATATATAATATATATACA TATATAA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTOR_chr1_11101535_11267551	11239516	C C	CAAAAGTA others(376): Show CAAAAGTATCAACTTCTCATGGATGAAATTGGAAACCATCATTCTCAGTA AACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGT GGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACT CTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGA TATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGC ACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAA ACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAAC AGAAATACTTAAGAAAGAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0248 a0001c0004t0001g0248	1	247	0.0040	383	c.178 others(400): Show c.1786+786_1786+787insTTTTTTTTTTTTTTTTTCTTTCTTAAGT ATTTCTGTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCG ATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGAGAAGTTGATA CTTTT	MTOR	ENSG00000198793.14	transcript	ENST00000361445.9	protein_coding	11/57			chr1	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(376): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATAAG TTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAATTA TAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTAT AATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATATA ACTTATAATTATAAGTTATAATATATAACTTATAAGTTATAATATATAAC TTATAAGTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG00735.hp2 HG01070.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0232 a0013c0010t0001g0243 a0013c0010t0001g0232 a0013c0010t0001g0243	2	9	0.2222	383	c.710 others(400): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATATTAT AACTTATAATTATAAATTATATATTATAACTTATAATTAAAAATTATAAT ATATAACTTATAATTATAAATTATATATTATAAATTATAATATATAAATT ATATATATATTATAAATTTATAATATATAAATTATATATTATAATTTATA ATTTATAATTATAAATTATATATTATAAATTATAATTATAAATTATATAT TATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(376): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTG GTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGT AGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATG GTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0089 a0003c0003t0008g0089	1	4	0.2500	383	c.160 others(400): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCACCATCACCACCATCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCACC GCCGCCACCACCACCACCACCACCATCACCACCATCACCACCATCACCAC CACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYT1L_chr2_1784113_2336275	1952843	T T	TCCCTCCC others(376): Show TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCC CCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCT TCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCC TCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTTCC CTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0004 a0001c0020t0004	a0001c0020t0004g0081 a0001c0020t0004g0081	1	73	0.0137	383	c.153 others(400): Show c.153-9510_153-9509insGGAAGGAGGGAAAGAAGGGAAGGAAAGG AAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGA GAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAG GGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGA GGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGA AGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGG GGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGG AGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGG GAGGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64201949	T T	TCGCGTGT others(376): Show TCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGAAC CCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGA ACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGG AACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCG GGAACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCCGCGTG TCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGCG TGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCTC GCGTGTCGGGAACCTCTGCGTGTCGGGAACCCCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0043 a0001c0001t0016g0043	1	207	0.0048	383	c.86+ others(398): Show c.86+2027_86+2028insCGCGTGTCGGGAACCCCTCGCGTGTCGGGA ACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGG AACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCG GGAACCCCCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGT CGGGAACCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCTCGCGT GTCGGGAACCCCCCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCCGC GTGTCGGGAACCCCTCGCGTGTCGGGAACCCCCGCGTGTCGGGAACCCCT CGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCTCTGCGTGTCGGGAACC CCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22			chr20	TogoVar
NEU4_chr2_241804193_241822413	241805308	G G	GACCTCTG others(376): Show GACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAACCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	286	0.0035	383	c.-39 others(394): Show c.-3970_-3969insACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCTGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCC TCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3884		chr2	TogoVar
NXN_chr17_794310_984776	841559	C C	CCCCCCGA others(376): Show CCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCAC GGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCA CACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCA GGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCG AGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGCGCATCTCACACCCACGGGCAGGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	239	0.0042	383	c.361 others(402): Show c.361-15482_361-15481insACCTGCCCGTGGGTGTGAGATGCGCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGG GACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCG GGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCC TGTGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGA GATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGG TCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(376): Show GGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGC TGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTT GGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG06807.hp1 HG02486.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0225 a0001c0001t0001g0226	2	155	0.0129	383	c.360 others(402): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCA GCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCC others(376): Show TCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCT TCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTC CTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTT CCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCC TCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCC TCCCTACTTCCCTCCCTCCCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTC CCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02602.hp1 HG03688.hp1 others(1): Show HG00738.hp1 HG02602.hp1 HG03688.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0005c0011	a0001c0001t0002 a0001c0003t0003 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0003t0003 a0001c0004t0002 a0005c0011t0003	a0001c0001t0002g0210 a0001c0003t0003g0207 a0001c0004t0002g0209 others(1): Show a0001c0001t0002g0210 a0001c0003t0003g0207 a0001c0004t0002g0209 a0005c0011t0003g0208	4	66	0.0606	383	c.-15 others(394): Show c.-1513_-1512insCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCC CTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCC TCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCT TCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCT CCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCCTCC TTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
PAK2_chr3_196734857_196837647	196811306	T T	TTCCCTCC others(376): Show TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTT CCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCT TTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCT TCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTT CCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	98	0.0102	383	c.773 others(398): Show c.773+658_773+659insCCCTTCCTTCCCTTCCCTCCCTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCC TTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTC CCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(376): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT ACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACC TCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCAC CTTCCACCTCCCCCCTCACTTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0269	1	118	0.0085	383	c.35 others(394): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTC CCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCC CTCACCTCCCCCCACCTTCCACCTCCCCCCTCACTTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(376): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATA AATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAAT TGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAA TGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAATGGATGG ATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	5	0.2000	383	c.161 others(400): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGA TAAATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAATGG ATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAATG GATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PKP3_chr11_389209_409908	401900	C C	CGACCCGC others(376): Show CGACCCGCTCACCCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGC CCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGC TCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACC CCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACC CGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGC TCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCAC CCCGGCCCCGCTCACACCCGCCCCGCTCACCCGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	139	0.0072	383	c.173 others(402): Show c.1738-1177_1738-1176insACCCGCTCACCCCCCGACCCGCTCAC CCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACCC GACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCC GCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCT CACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACC CCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCC CGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTC ACCCGGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(376): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03688.hp2 HG03834.hp1 HG02615.hp1 HG03688.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0039 a0002c0002t0001g0013 a0001c0001t0002g0039 a0002c0002t0001g0013	3	115	0.0261	383	c.-27 others(392): Show c.-277_-276insTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCC CTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCG CCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCC GCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCC CTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCC CCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCT CCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCC CTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(376): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	113	0.0088	383	c.-27 others(392): Show c.-277_-276insTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCC CTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCG CCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCC GCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCC CTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCC CCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCT CCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCC CTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2122680	G G	GTCATGGT others(376): Show GTCATGGTGGTAGTTAGGGTCATGGGTGGTAGTTAGCGTCATGGGTGGTA GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGT GGTGGTTAGGGTCACGGTGGTGGTTAGGGTCATGGCGGTAGTTAGCGTCA TGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGGAGTTAGG GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGT TAGCGTCATGGTGGTAGTTAGGGTCATGGTGGGAGTTAGGGTCACGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGCGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG03471.hp2 HG02895.hp1 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0022	3	229	0.0131	383	c.335 others(402): Show c.335-12581_335-12580insCATGGTGGTAGTTAGGGTCATGGGTG GTAGTTAGCGTCATGGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA CGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCATGGCGGTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGGAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATG GTGGGAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(376): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCCCATCCTTCACCCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG02572.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	150	0.0133	383	c.-58 others(398): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGACAGGGGTG AGGATGAGGGAGGGGAGTGAGGAGGAGGGGGCTGAGGATGGAGGAGGGGG TGAGGATAGAGGAGGGGGTGAGGATGAGGGTGAGGACGAGGAGGGGTGAA GGATGGGGGAGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAAGGGGGT GAGGATGAGGGAGGGGGTGACGATGGGGGGGTGAAGGATGGAGGAGGGGT GATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGAGGGGG TGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(376): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGAT GGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGA TGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTG ATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGGTGATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTG ATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0013 a0004c0006t0001g0013	1	199	0.0050	383	c.-46 others(394): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGA TGATGGTGATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTG GTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar

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