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
PPM1E_chr17_58750854_58990179	58842562	CGGGAGGC others(127): Show CGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAAGAGTTTGAGAACAGC CTGATCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAATTAGCCA GGTGTGGTGGTGCACACCTGTAATCCCAGCACTTT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0176 a0001c0001t0025g0176	1	312	0.0032	-134	c.464 others(19): Show c.464+86231_464+86364del	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPP2R2D_chr10_131896008_131964834	131939160	TCGGCAGA others(127): Show TCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGC TCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACG GCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACA	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	394	0.0025	-134	c.199 others(15): Show c.199-864_199-731del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP4R1_chr18_9541794_9619559	9611746	TCACGCCT others(127): Show TCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCT GAGGTCGGGAGTTCGAGACCAGCCTGATCAACATGGAGAAACCCCGTCTC TACTAAAAGTACAAAATTAGCCAGGCGTGGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0016 a0001c0001t0001g0017	2	388	0.0052	-134	c.52+ others(15): Show c.52+2346_52+2479del	PPP4R1	ENSG00000154845.16	transcript	ENST00000400556.8	protein_coding	2/19			chr18	TogoVar
PRDM15_chr21_41793225_41884344	41855960	CCCTCCCT others(127): Show CCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCC TTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCTTCCTTCCCT CCCTCCCCTCCCTCCCTTCCTTCCCTCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0369 a0001c0028t0002g0369	1	406	0.0025	-134	c.285 others(17): Show c.285+1082_286-1143del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRICKLE1_chr12_42451757_42594746	42476354	ATATTTTT others(127): Show ATATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGA ACTCCTGACCTTAGGTGATCTGCCCACTTCGGCCTCTCAAAGTGCTGGGA TTACAGGCGTGAGCCACTGCACCTGGCTAATTTTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0144 a0001c0003t0004g0144	1	300	0.0033	-134	c.-48 others(17): Show c.-48-3924_-48-3791del	PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	1/7			chr12	TogoVar
PRKG1_chr10_51069487_52303350	52302212	ACATGTAT others(127): Show ACATGTATACACATGTATATACACACATATGTATACACATGTATACACAC ACATATGTATACACATGTATATACACACATATGTATACACATGTATATAC ACACATATGTATACACATGTATATACACACATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG02559.hp1 others(7): Show HG01099.hp1 HG01243.hp2 HG02559.hp1 HG02622.hp1 HG02896.hp2 HG02965.hp2 HG03130.hp2 HG03453.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0003 a0001c0002t0006	a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0005g0018 others(7): Show a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0005g0018 a0001c0001t0005g0031 a0001c0001t0005g0061 a0001c0001t0006g0011 a0001c0001t0015g0010 a0001c0002t0003g0030 a0001c0002t0006g0013 a0001c0002t0006g0024	10	64	0.1563	-134	c.83 others(11): Show c.8313_*8446del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding		3863		chr10	TogoVar
PRKX_chrX_3599340_3718649	3639252	GGTGGGTG others(127): Show GGTGGGTGGATGGATGGATGGATGGATGGATGAAGGGGTGGGGGGGTCGG GGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGGG TGGATGGATGAAGGGGTGGGGTGGTAGATGGATGA	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0033 a0001c0002t0004g0033	1	227	0.0044	-134	c.719 others(17): Show c.719+2466_719+2599del	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRR5L_chr11_36291288_36470204	36351501	TTTTATAT others(127): Show TTTTATATATTTATATATATTTATATATTTATATAAATATATATTTATAT ATATTTATATATTTATATATTTATATAAATATATATTTATATATTTATAT AAATATATATTTATATATTTATATATTTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	272	0.0037	-134	c.-12 others(21): Show c.-125-49494_-125-49361del	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PXYLP1_chr3_141226825_141299924	141248601	ATATACAC others(127): Show ATATACACACGTATATATACACACACGTATATATACACACGTGTATATAT ACACACGTATATATACACACACGTGTATATATACACACGTATATACACAC ACGTGTATATATACACACGTATATACACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00735.hp2 others(17): Show HG00597.hp2 HG00673.hp2 HG00735.hp2 HG01167.hp1 HG01169.hp2 HG02015.hp2 HG02132.hp1 HG02165.hp2 HG03209.hp2 HG03486.hp2 NA18747.hp2 NA18948.hp1 NA18950.hp2 NA18977.hp2 NA18985.hp2 NA19005.hp1 NA19009.hp2 NA19065.hp2 NA19081.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0006t0002	a0001c0001t0001g0018 a0001c0001t0001g0273 a0001c0001t0001g0274 others(15): Show a0001c0001t0001g0018 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0312 a0001c0001t0002g0135 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0003g0200 a0001c0001t0003g0263 a0001c0001t0003g0295 a0001c0001t0005g0009 a0002c0006t0002g0133 a0002c0006t0002g0134	20	384	0.0521	-134	c.-53 others(19): Show c.-53-11517_-53-11384del	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAN_chr12_130867066_130882678	130882181	TATCACCA others(127): Show TATCACCACAGATCCGCGTAGCCTGCATCACTGATCTCACCTCTAGGTAC TCCTGAGAACTCCTCCTCCGTCTGTGGATCTGCGTGGTCTCCATCACTGA TCTCACCTCTAGGTACTCCCGAGAGTGCCTCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(90): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01928.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG03225.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18993.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0021 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0002g0033 a0001c0001t0010g0014 a0001c0001t0017g0001 a0001c0001t0021g0001 a0001c0001t0026g0001	93	426	0.2183	-134	c.62 others(11): Show c.6256_*6389del	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4504		chr12	TogoVar
RAN_chr12_130867066_130882678	130882517	CGTCTGTG others(127): Show CGTCTGTGGATCTGCGTGGTCTCCATCACTGATCTCACCTCTAGGTACTC CCGAGAGTGCCTCCTCCATCACCACAGATCCGCGTAGCCTGCATCACTGA TCTCACCTCTAGGTACTCCTGAGAACTCCTCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	-134	c.65 others(11): Show c.6592_*6725del	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4840		chr12	TogoVar
RNF166_chr16_88691501_88711408	88710469	TGTGTGTG others(127): Show TGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAG AAGCTGGGTCCACAGCGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACA GCAGGTGCACAAATCAGAAGCTGGGTCCACAGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02630.hp2 HG02965.hp2 HG01192.hp1 HG02630.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0181 a0001c0002t0021g0182 a0001c0002t0021g0183 a0001c0002t0021g0181 a0001c0002t0021g0182 a0001c0002t0021g0183	3	440	0.0068	-134	c.-42 others(11): Show c.-4278_-4145del	RNF166	ENSG00000158717.11	transcript	ENST00000312838.9	protein_coding		4062		chr16	TogoVar
RNPS1_chr16_2248120_2273126	2254549	GGCCTCCC others(127): Show GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTAGGCCTA ATTTTTATATTTTTTGTACGGATGGGGTTTCACCATGTTGGCCAGGATGG TCTCGACCTCCTGACCTTGTGATCCACCCACCTCA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	374	0.0027	-134	c.819 others(15): Show c.819-620_819-487del	RNPS1	ENSG00000205937.12	transcript	ENST00000320225.10	protein_coding	7/7			chr16	TogoVar
RPH3AL_chr17_207389_357807	253664	GTCCCTAG others(127): Show GTCCCTAGGAACGTTACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01167.hp2 others(4): Show HG00544.hp1 HG00544.hp2 HG01167.hp2 HG02027.hp2 HG03831.hp1 NA18612.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0034 a0001c0001t0037 a0001c0004t0001	a0001c0001t0001g0030 a0001c0001t0007g0032 a0001c0001t0009g0094 others(4): Show a0001c0001t0001g0030 a0001c0001t0007g0032 a0001c0001t0009g0094 a0001c0001t0012g0006 a0001c0001t0034g0018 a0001c0001t0037g0058 a0001c0004t0001g0048	7	133	0.0526	-134	c.439 others(17): Show c.439-6513_439-6380del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	253914	CGGCGTCT others(127): Show CGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0082 a0001c0001t0016g0082	1	133	0.0075	-134	c.439 others(17): Show c.439-6763_439-6630del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	253927	TTTCCATC others(127): Show TTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC TGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp2 HG03831.hp1 HG00544.hp2 HG02027.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0034 a0001c0001t0001 a0001c0001t0007 a0001c0001t0034	a0001c0001t0001g0030 a0001c0001t0007g0032 a0001c0001t0034g0018 a0001c0001t0001g0030 a0001c0001t0007g0032 a0001c0001t0034g0018	3	133	0.0226	-134	c.439 others(17): Show c.439-6776_439-6643del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254144	TGTGACTA others(127): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	133	0.0075	-134	c.439 others(17): Show c.439-6993_439-6860del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254178	TGCACGGC others(127): Show TGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0048	1	133	0.0075	-134	c.439 others(17): Show c.439-7027_439-6894del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254479	TATGACTA others(127): Show TATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	133	0.0075	-134	c.439 others(17): Show c.439-7328_439-7195del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254814	TGTGACTA others(127): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	133	0.0075	-134	c.439 others(17): Show c.439-7663_439-7530del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254999	TTTCCATC others(127): Show TTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC TGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	1	133	0.0075	-134	c.439 others(17): Show c.439-7848_439-7715del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255071	GTCCCTAG others(127): Show GTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAT GGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	133	0.0075	-134	c.439 others(17): Show c.439-7920_439-7787del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255200	TTTCCATC others(127): Show TTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC TGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19004.hp2 NA18951.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0028 a0001c0001t0012g0005 a0001c0001t0002g0028 a0001c0001t0012g0005	2	133	0.0150	-134	c.439 others(17): Show c.439-8049_439-7916del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255283	TATGACTA others(127): Show TATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCC TGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	133	0.0075	-134	c.439 others(17): Show c.439-8132_439-7999del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255361	TACGTACT others(127): Show TACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCC TAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGT CTGTCCTGTTCCATCCCTAGGAATGTGACTACCCA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0122 a0001c0003t0030g0122	1	133	0.0075	-134	c.439 others(17): Show c.439-8210_439-8077del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255451	TGCACGGC others(127): Show TGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCAACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	133	0.0075	-134	c.439 others(17): Show c.439-8300_439-8167del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255518	CGCACGGC others(127): Show CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	133	0.0075	-134	c.439 others(17): Show c.439-8367_439-8234del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255618	CGTGACTA others(127): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0020 a0003c0012t0005g0020	1	133	0.0075	-134	c.439 others(17): Show c.439-8467_439-8334del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255652	TGCACGGC others(127): Show TGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	133	0.0075	-134	c.439 others(17): Show c.439-8501_439-8368del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255741	ATCCCTAG others(127): Show ATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0083 a0001c0001t0024g0083	1	133	0.0075	-134	c.439 others(17): Show c.439-8590_439-8457del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256473	TTTCCATC others(127): Show TTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18612.hp2 NA19004.hp2 others(1): Show HG00280.hp1 NA18612.hp2 NA19004.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0037 a0001c0003t0028	a0001c0001t0001g0115 a0001c0001t0012g0005 a0001c0001t0037g0058 others(1): Show a0001c0001t0001g0115 a0001c0001t0012g0005 a0001c0001t0037g0058 a0001c0003t0028g0088	4	133	0.0301	-134	c.439 others(17): Show c.439-9322_439-9189del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256489	TGTGACTA others(127): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01515.hp2 HG01978.hp2 others(1): Show HG01167.hp2 HG01515.hp2 HG01978.hp2 NA18993.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0008c0013t0003	a0001c0001t0001g0047 a0001c0001t0004g0039 a0001c0001t0009g0094 others(1): Show a0001c0001t0001g0047 a0001c0001t0004g0039 a0001c0001t0009g0094 a0008c0013t0003g0037	4	133	0.0301	-134	c.439 others(17): Show c.439-9338_439-9205del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256891	CGTGACTA others(127): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	-134	c.439 others(17): Show c.439-9740_439-9607del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257148	GTCCCTAG others(127): Show GTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19074.hp2 NA18983.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0006 a0001c0001t0015g0041 a0001c0001t0012g0006 a0001c0001t0015g0041	2	133	0.0150	-134	c.439 others(17): Show c.439-9997_439-9864del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257750	CGTCCCTA others(127): Show CGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18993.hp1 HG02622.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0047 a0001c0001t0017g0099 a0001c0001t0001g0047 a0001c0001t0017g0099	2	133	0.0150	-134	c.439 others(19): Show c.439-10599_439-10466del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RRP7A_chr22_42503344_42524796	42523769	ATGTTAGC others(127): Show ATGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCACCTGCCTT GGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGCCTA ATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02572.hp2 HG02965.hp2 others(1): Show HG00639.hp2 HG02572.hp2 HG02965.hp2 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0039 a0001c0006t0101 a0001c0006t0104 a0001c0006t0039 a0001c0006t0101 a0001c0006t0104	a0001c0006t0039g0054 a0001c0006t0039g0055 a0001c0006t0101g0056 others(1): Show a0001c0006t0039g0054 a0001c0006t0039g0055 a0001c0006t0101g0056 a0001c0006t0104g0057	4	388	0.0103	-134	c.-41 others(11): Show c.-4117_-3984del	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding		3974		chr22	TogoVar
RTN1_chr14_59590983_59875776	59744691	TTTGCTTA others(127): Show TTTGCTTAGGTTTCCTCTTCCTGTCTGTGCCATCCCTAAAAGATCCAGAA GTCCACCTTTTCCTTCCCTTTAAGTGTACAGACTTAGAGCTAGGGACAGG AATGTTAAATGCCCCGGCCAAGGTGCTTCAGGCAG	T T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	172	0.0058	-134	c.101 others(18): Show c.1015+883_1015+1016del	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	2/8			chr14	TogoVar
RTN4RL1_chr17_1929677_2030334	2002430	CTACAGGC others(127): Show CTACAGGCGCCCGCCACCTCGCCTGGCTAATTTTTTGTATTTTTAGTACA GATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGT GATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp2 HG03453.hp1 others(1): Show HG02559.hp1 HG03098.hp2 HG03453.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0003c0008	a0001c0001t0084 a0001c0002t0038 a0001c0009t0134 others(1): Show a0001c0001t0084 a0001c0002t0038 a0001c0009t0134 a0003c0008t0114	a0001c0001t0084g0111 a0001c0002t0038g0088 a0001c0009t0134g0301 others(1): Show a0001c0001t0084g0111 a0001c0002t0038g0088 a0001c0009t0134g0301 a0003c0008t0114g0181	4	384	0.0104	-134	c.13+ others(17): Show c.13+22289_13+22422del	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
S1PR4_chr19_3173769_3185332	3174920	CTCATGGG others(127): Show CTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACG CCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGCCCTC ATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-134	c.-38 others(11): Show c.-3872_-3739del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3848		chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990984	CTCTTTCT others(127): Show CTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	2	370	0.0054	-134	c.-47 others(11): Show c.-4737_-4604del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4578		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(127): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG01175.hp1 others(20): Show HG00544.hp1 HG00642.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG02015.hp2 HG02027.hp1 HG02083.hp2 HG02132.hp1 HG02698.hp2 HG03017.hp2 HG03239.hp1 HG03669.hp2 HG03704.hp1 HG04199.hp1 HG04228.hp1 NA18985.hp2 NA19009.hp2 NA19058.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0005t0001	a0001c0001t0001g0036 a0001c0001t0001g0191 a0001c0001t0001g0192 others(16): Show a0001c0001t0001g0036 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0005g0024 a0001c0001t0005g0042 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0255 a0001c0001t0007g0247 a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0005t0001g0001	23	370	0.0622	-134	c.-47 others(11): Show c.-4725_-4592del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288567	TCCCCCGT others(127): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	290	0.0035	-134	c.166 others(17): Show c.1662+534_1662+667del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289033	TCCCCCGA others(127): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0078 a0009c0013t0001g0078	1	290	0.0035	-134	c.166 others(19): Show c.1662+1000_1663-1101del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289161	TCCGTCCC others(127): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0146 a0003c0004t0003g0146	1	290	0.0035	-134	c.166 others(18): Show c.1663-1102_1663-969del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289223	TCCCCCGT others(127): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0139 a0003c0004t0003g0139	1	290	0.0035	-134	c.166 others(18): Show c.1663-1044_1663-911del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINE2_chr2_223970045_224044286	224021852	AGTCTCTA others(127): Show AGTCTCTACTAAAAATACAAAAATTAGGCTGGGCGTGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTTAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	374	0.0027	-134	c.-23 others(19): Show c.-23+17113_-23+17246del	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109199376	AATGGAAT others(127): Show AATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG AATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG AATGGAATGGAATGGAATGGATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0068 a0001c0003t0068	a0001c0003t0068g0075 a0001c0003t0068g0075	1	172	0.0058	-134	c.573 others(19): Show c.573+69384_573+69517del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHB_chr9_37910898_38074227	37918374	CGTGTGTA others(127): Show CGTGTGTAGGTGTTCTTGTGTGTGGAAGCAGTGTGGACCACTGAGGGCTG TGTGTGTGTGTGTGTGTGTGTGTAGGTGTTCTTGTGTGTGGAAGCAGTGT GGACCACTGAGGGCTGTGTGTGTGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00738.hp2 others(7): Show HG00099.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01981.hp2 HG02683.hp2 HG03017.hp1 HG03831.hp1 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0062 a0001c0002t0063 a0001c0002t0006 a0001c0002t0062 a0001c0002t0063	a0001c0002t0006g0100 a0001c0002t0006g0127 a0001c0002t0006g0129 others(7): Show a0001c0002t0006g0100 a0001c0002t0006g0127 a0001c0002t0006g0129 a0001c0002t0006g0130 a0001c0002t0006g0132 a0001c0002t0006g0134 a0001c0002t0006g0137 a0001c0002t0006g0170 a0001c0002t0062g0128 a0001c0002t0063g0166	10	330	0.0303	-134	c.13 others(11): Show c.1313_*1446del	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	6/6	1313		chr9	TogoVar
SLC12A7_chr5_1045384_1117063	1070389	CAGCCCCA others(127): Show CAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0004 a0002c0023t0004	a0002c0023t0004g0010 a0002c0023t0004g0010	1	118	0.0085	-134	c.224 others(19): Show c.2241+3110_2241+3243del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC39A14_chr8_22362278_22427736	22396385	TAGAGAGA others(127): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAG AGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01169.hp2 HG01175.hp2 others(10): Show HG00621.hp2 HG01169.hp2 HG01175.hp2 HG02027.hp2 HG02809.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp2 NA18962.hp1 NA18988.hp2 NA19001.hp2 NA19006.hp1 NA19077.hp1	a0003 a0007 a0003 a0007	a0003c0001 a0003c0008 a0007c0017 a0003c0001 a0003c0008 a0007c0017	a0003c0001t0001 a0003c0008t0004 a0007c0017t0001 a0003c0001t0001 a0003c0008t0004 a0007c0017t0001	a0003c0001t0001g0067 a0003c0001t0001g0072 a0003c0001t0001g0073 others(10): Show a0003c0001t0001g0067 a0003c0001t0001g0072 a0003c0001t0001g0073 a0003c0001t0001g0077 a0003c0001t0001g0090 a0003c0001t0001g0098 a0003c0001t0001g0117 a0003c0001t0001g0119 a0003c0001t0001g0130 a0003c0001t0001g0132 a0003c0001t0001g0315 a0003c0008t0004g0066 a0007c0017t0001g0122	13	324	0.0401	-134	c.-15 others(17): Show c.-15-8296_-15-8163del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar

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