Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MUSK_chr9_110663791_110811558	110701794	ATTTTATT others(104): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	324	0.0031	-111	c.628 others(17): Show c.628+4332_628+4442del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYO1F_chr19_8515778_8582442	8543768	CTGGTGGT others(104): Show CTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGC TGGTGGTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	216	0.0046	-111	c.152 others(17): Show c.1524+418_1524+528del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
NINL_chr20_25447697_25590531	25468891	CTGTCCTG others(104): Show CTGTCCTGTCCCTTGACTCTCACTGGTGGGTGCCCCACTGTCCTGTCCCT TGACTCTCACTGGTGGGTGCCCCACTGCCCTGTCCCCTGACTCTCACTGG TGAGTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01361.hp2 HG01891.hp2 others(5): Show HG01167.hp1 HG01361.hp2 HG01891.hp2 HG02647.hp1 HG02970.hp1 HG03491.hp2 HG03492.hp2 HG04115.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0204 others(5): Show a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0204 a0004c0005t0001g0205 a0004c0005t0001g0206 a0004c0005t0001g0207 a0004c0005t0001g0208 a0004c0005t0001g0221	8	308	0.0260	-111	c.335 others(18): Show c.3353+989_3353+1099del		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23						chr20	TogoVar
NTN5_chr19_48656407_48678017	48669285	TCACCACC others(104): Show TCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACC ACCATCACCACCACCACCATCACCACCACCATCACCACCACCACCATCAC CACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01169.hp2 others(3): Show HG01081.hp1 HG01167.hp2 HG01169.hp2 HG01516.hp1 HG01517.hp1 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0040 a0001c0003t0001g0012 a0001c0003t0001g0040	6	400	0.0150	-111	c.631 others(16): Show c.631+960_631+1070del		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NXPE1_chr11_114513934_114564881	114515737	TTAGAAAG others(104): Show TTAGAAAGTAAGTATGAAAGGGCAGTCTTTCTGAAGTAGAGCAATTCAGG TGATAACAGGGTTCAAGGTGTGGCCCTCAAAGTGGGTTGTCAAAACACAT TAGATTTGCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00738.hp2 others(77): Show HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20300.hp2 NA20805.hp1	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0011 a0014	a0003c0003 a0004c0004 a0007c0009 others(2): Show a0003c0003 a0004c0004 a0007c0009 a0011c0014 a0014c0013	a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 others(8): Show a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0003t0008 a0003c0003t0010 a0003c0003t0014 a0003c0003t0016 a0004c0004t0007 a0007c0009t0005 a0011c0014t0003 a0014c0013t0026	a0003c0003t0003g0001 a0003c0003t0003g0005 a0003c0003t0003g0009 others(48): Show a0003c0003t0003g0001 a0003c0003t0003g0005 a0003c0003t0003g0009 a0003c0003t0003g0020 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0042 a0003c0003t0003g0142 a0003c0003t0003g0145 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0153 a0003c0003t0003g0154 a0003c0003t0003g0155 a0003c0003t0003g0156 a0003c0003t0003g0157 a0003c0003t0003g0158 a0003c0003t0003g0159 a0003c0003t0003g0160 a0003c0003t0003g0161 a0003c0003t0003g0163 a0003c0003t0003g0164 a0003c0003t0003g0166 a0003c0003t0003g0167 a0003c0003t0005g0010 a0003c0003t0005g0173 a0003c0003t0005g0174 a0003c0003t0005g0175 a0003c0003t0006g0041 a0003c0003t0006g0148 a0003c0003t0006g0165 a0003c0003t0006g0169 a0003c0003t0006g0170 a0003c0003t0006g0266 a0003c0003t0006g0267 a0003c0003t0006g0268 a0003c0003t0008g0038 a0003c0003t0008g0139 a0003c0003t0008g0140 a0003c0003t0008g0141 a0003c0003t0010g0019 a0003c0003t0014g0149 a0003c0003t0014g0150 a0003c0003t0016g0168 a0003c0003t0016g0171 a0004c0004t0007g0013 a0004c0004t0007g0024 a0004c0004t0007g0051 a0007c0009t0005g0043 a0011c0014t0003g0162 a0014c0013t0026g0172	80	358	0.2235	-111	c.61 others(11): Show c.6120_*6230del		NXPE1	ENSG00000095110.9	transcript	ENST00000534921.3	protein_coding					3196		chr11	TogoVar
OPCML_chr11_132409981_133537501	133140910	AGAAGAAG others(104): Show AGAAGAAGAAGACGACGACGACGAAGAAGAAGAAGACGACGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGACGACGACGAC GACGACGACGAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	55	0.0182	-111	c.62- others(19): Show c.62-198011_62-197901del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133140984	AAGAAGAA others(104): Show AAGAAGAAGAAGAAGACGACGACGACGACGACGACGACGACGACGACGAC GACGACGACGACGACGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	38	0.0263	-111	c.62- others(19): Show c.62-198085_62-197975del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31510859	TATATGTA others(104): Show TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTA TATCTATATGTA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02809.hp1 HG01070.hp2 HG01071.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0080 a0001c0012t0011 a0001c0001t0080 a0001c0012t0011	a0001c0001t0080g0020 a0001c0012t0011g0092 a0001c0012t0011g0093 a0001c0001t0080g0020 a0001c0012t0011g0092 a0001c0012t0011g0093	3	241	0.0124	-111	c.894 others(17): Show c.894-7152_894-7042del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510861	TATGTATA others(104): Show TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATA TCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0104 a0001c0002t0034g0104	1	242	0.0041	-111	c.894 others(17): Show c.894-7154_894-7044del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510930	TATGTATA others(104): Show TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATGTA TATCTATATGTAACATATGTATATCTATATGTAACATACATGTATATCTA TATGTAACATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	241	0.0041	-111	c.894 others(17): Show c.894-7223_894-7113del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PADI1_chr1_17200128_17251007	17208470	CCACCACC others(104): Show CCACCACCCTGTCCACCCCTGACTCCAGAGGGCTAGCTAACCACCCTTTC CACCCCCCACCCCAGTAGGCTAGCCCACCACCCTGTCCACCCCCGACTCC AGTGGGCTAGCT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0304 a0001c0004t0002g0304	1	404	0.0025	-111	c.92+ others(15): Show c.92+3180_92+3290del		PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAQR5_chr15_69293912_69412780	69300587	TTCCTTCT others(104): Show TTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTC CCTCCCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	282	0.0035	-111	c.-27 others(19): Show c.-277+1534_-277+1644del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARVB_chr22_44019302_44177939	44115073	ATTGTTAC others(104): Show ATTGTTACTAACTAAGGCCCTGCACCAGAACGGATACATTGTTACTAAGT AAGGCCCTGCACCAACACAGATACACTGTTACTAACTAAGGCCCTGTACC AACACAGATACT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG03225.hp2 HG02486.hp2 HG02559.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0002t0008 a0001c0001t0004 a0001c0001t0008 a0001c0002t0008	a0001c0001t0004g0117 a0001c0001t0008g0091 a0001c0002t0008g0130 a0001c0001t0004g0117 a0001c0001t0008g0091 a0001c0002t0008g0130	3	330	0.0091	-111	c.274 others(17): Show c.274-3954_274-3844del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115131	GCACCAAC others(104): Show GCACCAACACAGATACACTGTTACTAACTAAGGCCCTGTACCAACACAGA TACTTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTA ACTAAGGCCCTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0156 a0001c0002t0005g0156	1	323	0.0031	-111	c.274 others(17): Show c.274-3890_274-3780del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115232	CTAAGGCC others(104): Show CTAAGGCCCTACACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCA CCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAGAACGGATAC ATTGTTACTAAG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04184.hp1 HG03704.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0052 a0002c0003t0001 a0001c0002t0052 a0002c0003t0001	a0001c0002t0052g0017 a0002c0003t0001g0063 a0001c0002t0052g0017 a0002c0003t0001g0063	2	217	0.0092	-111	c.274 others(17): Show c.274-3796_274-3686del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115302	CTAACTAA others(104): Show CTAACTAAGGCCCTGCACCAGAACGGATACATTGTTACTAAGTAAGGCCC TGCACCAACACAGATACATTGTTACTAACTAAGGCCCTACAGCAACACAG ATACATTGTTAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02055.hp2 others(8): Show HG01109.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG03225.hp2 HG03453.hp2 HG03688.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0031 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0044	a0001c0001t0001g0239 a0001c0001t0004g0117 a0001c0001t0004g0124 others(8): Show a0001c0001t0001g0239 a0001c0001t0004g0117 a0001c0001t0004g0124 a0001c0001t0005g0328 a0001c0001t0008g0091 a0001c0001t0017g0090 a0001c0001t0031g0209 a0001c0002t0006g0194 a0001c0002t0008g0130 a0001c0002t0012g0089 a0001c0002t0044g0098	11	321	0.0343	-111	c.274 others(17): Show c.274-3716_274-3606del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115487	CTAACTAA others(104): Show CTAACTAAGGCCCTGCACCAGAACGGATACATTGTTACTAAGTAAGGCCC TGCACCAACACAGATACATTGTTACTAACTAAGGCCCTACAGCAACACAG ATACATTGTTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(98): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18964.hp2 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18993.hp1 NA19000.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0012 a0001c0023 a0001c0024 a0001c0025 a0002c0003 a0003c0006 a0004c0009 a0005c0018 a0006c0032 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0049 a0001c0001t0053 a0001c0001t0065 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0060 a0001c0002t0062 a0001c0004t0069 a0001c0005t0004 a0001c0005t0009 a0001c0007t0004 a0001c0007t0043 a0001c0008t0047 a0001c0012t0035 a0001c0023t0055 a0001c0024t0001 a0001c0025t0013 a0002c0003t0001 a0002c0003t0011 a0002c0003t0021 a0002c0003t0026 a0003c0006t0004 a0003c0006t0008 a0003c0006t0058 a0004c0009t0001 a0004c0009t0007 a0005c0018t0037 a0006c0032t0048 a0009c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0026 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0231 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0303 a0001c0001t0001g0314 a0001c0001t0002g0049 a0001c0001t0002g0137 a0001c0001t0002g0171 a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0291 a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0227 a0001c0001t0003g0233 a0001c0001t0003g0255 a0001c0001t0003g0271 a0001c0001t0004g0154 a0001c0001t0004g0203 a0001c0001t0005g0080 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0170 a0001c0001t0005g0260 a0001c0001t0006g0224 a0001c0001t0006g0276 a0001c0001t0007g0008 a0001c0001t0007g0082 a0001c0001t0007g0215 a0001c0001t0007g0254 a0001c0001t0007g0265 a0001c0001t0009g0120 a0001c0001t0010g0178 a0001c0001t0011g0052 a0001c0001t0012g0183 a0001c0001t0016g0316 a0001c0001t0049g0308 a0001c0001t0053g0210 a0001c0001t0065g0015 a0001c0001t0067g0033 a0001c0001t0070g0225 a0001c0001t0071g0330 a0001c0002t0001g0010 a0001c0002t0001g0053 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0299 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0005g0126 a0001c0002t0005g0176 a0001c0002t0005g0200 a0001c0002t0005g0201 a0001c0002t0006g0155 a0001c0002t0007g0005 a0001c0002t0009g0322 a0001c0002t0012g0078 a0001c0002t0015g0054 a0001c0002t0020g0073 a0001c0002t0021g0177 a0001c0002t0022g0202 a0001c0002t0060g0023 a0001c0002t0062g0167 a0001c0004t0069g0213 a0001c0005t0004g0101 a0001c0005t0009g0072 a0001c0007t0004g0088 a0001c0007t0043g0094 a0001c0008t0047g0323 a0001c0012t0035g0122 a0001c0023t0055g0083 a0001c0024t0001g0029 a0001c0025t0013g0099 a0002c0003t0001g0051 a0002c0003t0011g0284 a0002c0003t0021g0025 a0002c0003t0026g0331 a0003c0006t0004g0106 a0003c0006t0004g0114 a0003c0006t0008g0107 a0003c0006t0058g0105 a0004c0009t0001g0258 a0004c0009t0007g0212 a0005c0018t0037g0103 a0006c0032t0048g0159 a0009c0017t0001g0182	101	324	0.3117	-111	c.274 others(17): Show c.274-3531_274-3421del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115565	CTAAGGCC others(104): Show CTAAGGCCCTACAGCAACACAGATACATTGTTATTAACTAAGGCCCTGCA CCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAGAACGGATAC ATTGTTACTAAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02055.hp2 others(4): Show HG01109.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02280.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0001t0031 a0001c0002t0006 a0001c0002t0012 a0001c0002t0044	a0001c0001t0004g0124 a0001c0001t0005g0328 a0001c0001t0017g0090 others(4): Show a0001c0001t0004g0124 a0001c0001t0005g0328 a0001c0001t0017g0090 a0001c0001t0031g0209 a0001c0002t0006g0194 a0001c0002t0012g0089 a0001c0002t0044g0098	7	322	0.0217	-111	c.274 others(17): Show c.274-3463_274-3353del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115635	CTAACTAA others(104): Show CTAACTAAGGCCCTGCACCAGAACGGATACATTGTTACTAAGTAAGGCCC TGCACCAACACAGATACATTGTTACTAACTAAGGCCCTACAGCAACACAG ATACATTGTTAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02965.hp2 HG00738.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0005 a0001c0011t0033 a0001c0002t0005 a0001c0011t0033	a0001c0002t0005g0156 a0001c0011t0033g0326 a0001c0002t0005g0156 a0001c0011t0033g0326	2	326	0.0061	-111	c.274 others(17): Show c.274-3383_274-3273del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PCBP3_chr21_45638725_45947450	45814731	GTGAGTGA others(104): Show GTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGGTGAGTGGTGAGTG ATGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTG AGTGGTGAATGA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19066.hp1 NA18959.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0183 a0001c0001t0001g0123 a0001c0001t0001g0183	2	290	0.0069	-111	c.-12 others(21): Show c.-125-35205_-125-35095del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	746412	GGGGTCGC others(104): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0048 a0001c0001t0013g0048	1	362	0.0028	-111	c.462 others(17): Show c.462+1728_462+1838del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746465	CCCGGGGT others(104): Show CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0134 a0001c0003t0053g0134	1	356	0.0028	-111	c.462 others(17): Show c.462+1780_462+1890del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PFKFB3_chr10_6197932_6240532	6206804	GGCGGCCG others(104): Show GGCGGCCGGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGG CAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp2 NA19030.hp2 HG01891.hp1 HG02630.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0028 a0001c0001t0061 a0001c0001t0016 a0001c0001t0028 a0001c0001t0061	a0001c0001t0016g0080 a0001c0001t0028g0030 a0001c0001t0061g0397 a0001c0001t0016g0080 a0001c0001t0028g0030 a0001c0001t0061g0397	3	430	0.0070	-111	c.76+ others(15): Show c.76+3470_76+3580del		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
PHACTR1_chr6_12711767_13292837	13231159	AAGAGCGA others(104): Show AAGAGCGAAAGAGGAGGAGGGAGGGAGGGAGGAAGGAAAGAAGGAAGGAA GGAAGGGAAAAGAAAGAAGGAAAGAGAGAAAGAAAGAAGGAAAGAGAAAG AAAGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18955.hp1 NA20300.hp1 HG02717.hp2 NA18955.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0089 a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0089	3	108	0.0278	-111	c.139 others(18): Show c.1391+970_1391+1080del		PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr6	TogoVar
PIGN_chr18_62036164_62192056	62061428	AGCAATAA others(104): Show AGCAATAAAGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCAGTCCGCA TTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(121): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01257.hp2 HG01261.hp1 HG01496.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0001c0016 others(5): Show a0001c0001 a0001c0003 a0001c0016 a0001c0017 a0001c0019 a0001c0021 a0004c0007 a0006c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0025 a0001c0001t0028 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0053 a0001c0003t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0001 a0001c0021t0005 a0004c0007t0009 a0004c0007t0017 a0004c0007t0025 a0006c0018t0044	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0053 others(119): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0334 a0001c0001t0009g0333 a0001c0001t0012g0245 a0001c0001t0012g0252 a0001c0001t0012g0253 a0001c0001t0012g0254 a0001c0001t0012g0258 a0001c0001t0025g0308 a0001c0001t0028g0018 a0001c0001t0045g0221 a0001c0001t0046g0174 a0001c0001t0047g0205 a0001c0001t0048g0208 a0001c0001t0049g0275 a0001c0001t0053g0312 a0001c0003t0001g0106 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0016t0001g0206 a0001c0017t0001g0196 a0001c0019t0001g0190 a0001c0021t0005g0327 a0004c0007t0009g0306 a0004c0007t0009g0307 a0004c0007t0009g0309 a0004c0007t0009g0310 a0004c0007t0009g0311 a0004c0007t0009g0314 a0004c0007t0009g0315 a0004c0007t0009g0316 a0004c0007t0017g0200 a0004c0007t0017g0201 a0004c0007t0017g0204 a0004c0007t0025g0313 a0006c0018t0044g0178	124	340	0.3647	-111	c.267 others(21): Show c.2672+11134_2672+11244del		PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30						chr18	TogoVar
PLEKHA4_chr19_48832097_48873617	48834454	GGGCCTGG others(104): Show GGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCT GGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAAGGGCTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA18942.hp2 NA18994.hp2 HG01975.hp2 NA18942.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196	3	298	0.0101	-111	c.27 others(11): Show c.2724_*2834del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2642		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834493	TCTGGACT others(104): Show TCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTA GGGCCTGGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01099.hp1 others(14): Show HG00099.hp2 HG00733.hp2 HG01099.hp1 HG01168.hp1 HG01361.hp2 HG01943.hp1 HG02145.hp1 HG02258.hp1 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03453.hp2 HG03540.hp2 HG06807.hp1 NA19043.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0024 a0001c0001 a0002c0002 a0002c0024	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0014 a0002c0024t0002	a0001c0001t0001g0181 a0002c0002t0001g0224 a0002c0002t0002g0006 others(13): Show a0001c0001t0001g0181 a0002c0002t0001g0224 a0002c0002t0002g0006 a0002c0002t0002g0031 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0054 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0090 a0002c0002t0014g0100 a0002c0024t0002g0030	17	278	0.0612	-111	c.26 others(11): Show c.2685_*2795del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2603		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834565	AGCCTGGA others(104): Show AGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAG TAGGGCCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18993.hp2 NA19081.hp2 NA18966.hp2 NA18993.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0001c0001t0001 a0002c0002t0002 a0002c0002t0012	a0001c0001t0001g0109 a0002c0002t0002g0063 a0002c0002t0012g0019 a0001c0001t0001g0109 a0002c0002t0002g0063 a0002c0002t0012g0019	3	292	0.0103	-111	c.26 others(11): Show c.2613_*2723del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2531		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834630	AGGGCTGG others(104): Show AGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	231	0.0043	-111	c.25 others(11): Show c.2548_*2658del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2466		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834676	GGCCTGGA others(104): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG03486.hp2 HG01346.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0234 a0002c0002t0003g0249 a0002c0002t0003g0234 a0002c0002t0003g0249	2	280	0.0071	-111	c.25 others(11): Show c.2502_*2612del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2420		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835186	CTGGGGGC others(104): Show CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02055.hp2 others(11): Show HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02451.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA20300.hp1 NA21309.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0011c0013 a0003c0003 a0011c0013	a0003c0003t0005 a0003c0003t0006 a0011c0013t0001 a0003c0003t0005 a0003c0003t0006 a0011c0013t0001	a0003c0003t0005g0042 a0003c0003t0005g0044 a0003c0003t0005g0055 others(11): Show a0003c0003t0005g0042 a0003c0003t0005g0044 a0003c0003t0005g0055 a0003c0003t0005g0056 a0003c0003t0005g0057 a0003c0003t0005g0058 a0003c0003t0005g0068 a0003c0003t0005g0091 a0003c0003t0006g0235 a0003c0003t0006g0239 a0003c0003t0006g0248 a0003c0003t0006g0253 a0011c0013t0001g0113 a0011c0013t0001g0185	14	296	0.0473	-111	c.19 others(11): Show c.1992_*2102del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					1910		chr19	TogoVar
PLEKHG7_chr12_92697989_92777455	92727987	CACACACC others(104): Show CACACACCACATTCCATGGTGTATATATAAATATATATACACACCACATT CCATGGTGTATATATAAATATATATACACACCACATTCCATGGTGTATAT ATAAATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19240.hp1 HG01891.hp2 NA19240.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0004 a0003c0004t0021 a0002c0003t0004 a0003c0004t0021	a0002c0003t0004g0225 a0003c0004t0021g0140 a0002c0003t0004g0225 a0003c0004t0021g0140	2	180	0.0111	-111	c.531 others(15): Show c.531-652_531-542del		PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
POTEB3_chr15_21400401_21445499	21439733	TGTCTTCA others(104): Show TGTCTTCATAAAGGAGTTGTCATGGTCTCCAGAAGTGCCCACATTGCTCG TGCCGCTCCCCCTGCAGCAGGGGAAGCAGTGGTGGCAACACTTGCCCATC TTGCTCCTGAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp1 HG00597.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0018 a0006c0016t0018	a0006c0016t0018g0019 a0006c0016t0018g0019	1	52	0.0192	-111	c.168 others(7): Show c.168_278del	p.Leu others(11): Show p.Leu57_Thr93del	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding	1/11	766/5816	168/1746	56/581			chr15	TogoVar
POTEI_chr2_130454455_130514328	130508882	ACCCACGT others(104): Show ACCCACGTTGCTCTTGCCGCTCCCCCTGCAGCAGGGGAAGCAGTGGCAGC ACCACTTGCCCATCTTGCTCCTGAGCGTCTTCATAGCGGAGTCGTCGTGG TCTCCAGAAGTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp2 HG02717.hp2	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0011 a0015c0032t0011	a0015c0032t0011g0118 a0015c0032t0011g0118	1	124	0.0081	-111	c.243 others(7): Show c.243_353del	p.Thr others(12): Show p.Thr82_Gly118del	POTEI	ENSG00000196834.14	transcript	ENST00000451531.7	protein_coding	1/15	446/6682	243/3228	81/1075			chr2	TogoVar
PPA1_chr10_70197835_70238429	70220934	CTATATAT others(104): Show CTATATATATAATTTATATATAATATATATAATTTTTATATATATACTAT ATATATAATTTATATATATAACATATATATAATTTATATATATAATATAT ATATAAATTATA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp2 HG02559.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	393	0.0051	-111	c.124 others(17): Show c.124-2228_124-2118del		PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10						chr10	TogoVar
PRKCA_chr17_66297613_66815743	66798599	GTGGTGGT others(104): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGA TGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03710.hp2 NA18986.hp1 others(1): Show HG02273.hp1 HG03710.hp2 NA18986.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0030 a0001c0003t0010 a0001c0001t0001 a0001c0001t0030 a0001c0003t0010	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0030g0082 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0030g0082 a0001c0003t0010g0076	4	168	0.0238	-111	c.185 others(19): Show c.1855-5250_1855-5140del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799472	GTGGTGGT others(104): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGT GGTGGTGATGGTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0150 a0001c0001t0016g0150	1	168	0.0060	-111	c.185 others(19): Show c.1855-4389_1855-4279del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799532	GTGGTGGT others(104): Show GTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAA TGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0115 a0001c0002t0021g0115	1	164	0.0061	-111	c.185 others(19): Show c.1855-4333_1855-4223del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123427	GGTGGTTA others(104): Show GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01099.hp2 others(9): Show HG00140.hp1 HG00738.hp1 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01255.hp1 HG02055.hp1 HG02109.hp2 HG02970.hp2 HG03942.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004	a0001c0002t0001g0158 a0001c0002t0004g0149 a0001c0003t0001g0051 others(9): Show a0001c0002t0001g0158 a0001c0002t0004g0149 a0001c0003t0001g0051 a0001c0003t0001g0111 a0001c0003t0001g0127 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0199 a0001c0003t0003g0232 a0001c0003t0004g0129	12	252	0.0476	-111	c.335 others(19): Show c.335-11829_335-11719del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141437022	ATGGGGAG others(104): Show ATGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCGCCGTGGGGAGCTGTG GGTCCCGGCCTGGCCCTGCCCGCCATGGGGAGCTGTGGGTCCCGGCCTGG CCCTGCCCGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02622.hp1 others(5): Show HG01891.hp2 HG02486.hp1 HG02622.hp1 HG02976.hp1 HG03098.hp1 NA19004.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027	a0001c0001t0001g0127 a0001c0001t0001g0162 a0001c0001t0008g0034 others(5): Show a0001c0001t0001g0127 a0001c0001t0001g0162 a0001c0001t0008g0034 a0001c0001t0014g0036 a0001c0001t0014g0283 a0001c0001t0019g0006 a0001c0001t0023g0028 a0001c0001t0027g0030	8	238	0.0336	-111	c.59 others(11): Show c.5979_*6089del		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding					4569		chr8	TogoVar
PTPRA_chr20_2868481_3043669	2872026	TCCACAAT others(104): Show TCCACAATACGGAGGAGTGGGGCACAGAGTCCCTAACTGGCGCCCCAACA GAAGGCGGTGGTGGGGACCGGAGATGGTAGGACTGGAGATGGTAGGGGCT GCTGATGTGAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19082.hp2 NA19078.hp1 NA19082.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0003 a0009c0015t0003 a0001c0001t0003 a0009c0015t0003	a0001c0001t0003g0236 a0009c0015t0003g0226 a0001c0001t0003g0236 a0009c0015t0003g0226	2	354	0.0056	-111	c.-18 others(11): Show c.-1862_-1752del		PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding					1454		chr20	TogoVar
PTPRA_chr20_2868481_3043669	2872119	AGGGGCTG others(104): Show AGGGGCTGCTGATGTGAGCCCACAATACGGAGGAGTGGGGCACAGAGTCC CTAACTGGCGCCCCAACAGAAGGCGGTGGTGGGGACCGGAGATGGTAGGA CTGGAGATGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA18612.hp2 NA18747.hp1 HG02056.hp2 NA18612.hp2 NA18747.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0250 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0250	3	354	0.0085	-111	c.-17 others(11): Show c.-1769_-1659del		PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding					1361		chr20	TogoVar
PTPRA_chr20_2868481_3043669	2969562	ATAAATAA others(104): Show ATAAATAAATAGGCCGGGCGCGGCGGCTCATGCCTGTAATCCCAGCACTT TGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCCTCCT GGCTAACATGGT	A A	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	354	0.0028	-111	c.415 others(17): Show c.415+4361_415+4471del		PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	5/23						chr20	TogoVar
PXDN_chr2_1626887_1749515	1710902	ACTCTCCA others(104): Show ACTCTCCACCAGCACCCACTCCACCAGCACCCACTCTATGAACACCCGCT CCACCAGTACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCACTCCA CCAGCACCCACT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	320	0.0031	-111	c.201 others(19): Show c.201-17879_201-17769del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RADIL_chr7_4792055_4888716	4803054	TACCTCGG others(104): Show TACCTCGGGGCACGCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGCACG CTGGCTGGGGGGCCCCCTCCCCGGGTACCTCGGGGCACTCTGGCTGGGTC CCCTCCCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01071.hp1 others(22): Show HG00280.hp2 HG01070.hp2 HG01071.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2	a0003 a0011 a0019 a0003 a0011 a0019	a0003c0005 a0003c0007 a0003c0014 others(6): Show a0003c0005 a0003c0007 a0003c0014 a0003c0018 a0003c0029 a0003c0049 a0003c0057 a0011c0015 a0019c0058	a0003c0005t0001 a0003c0005t0052 a0003c0007t0004 others(12): Show a0003c0005t0001 a0003c0005t0052 a0003c0007t0004 a0003c0007t0010 a0003c0007t0037 a0003c0014t0010 a0003c0014t0020 a0003c0014t0048 a0003c0018t0004 a0003c0029t0045 a0003c0049t0010 a0003c0057t0028 a0011c0015t0014 a0011c0015t0056 a0019c0058t0020	a0003c0005t0001g0214 a0003c0005t0052g0157 a0003c0007t0004g0077 others(21): Show a0003c0005t0001g0214 a0003c0005t0052g0157 a0003c0007t0004g0077 a0003c0007t0004g0082 a0003c0007t0004g0085 a0003c0007t0004g0087 a0003c0007t0004g0088 a0003c0007t0004g0112 a0003c0007t0010g0010 a0003c0007t0037g0139 a0003c0014t0010g0119 a0003c0014t0010g0123 a0003c0014t0020g0138 a0003c0014t0048g0120 a0003c0018t0004g0002 a0003c0018t0004g0081 a0003c0029t0045g0116 a0003c0049t0010g0128 a0003c0057t0028g0203 a0011c0015t0014g0091 a0011c0015t0014g0092 a0011c0015t0014g0145 a0011c0015t0056g0176 a0019c0058t0020g0075	25	255	0.0980	-111	c.249 others(17): Show c.2499+381_2499+491del		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14						chr7	TogoVar
RBM19_chr12_113817057_113971325	113836897	TACACACC others(104): Show TACACACCCCCCCCCCCCCCACATACACACACACACACACACACGTGTCC CAAGCAATGCTTATGTGTCAGGCATACCTGTCCTCCTACTTACTACATAC ACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19079.hp1 NA19087.hp2 NA18948.hp2 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0177 a0001c0004t0004g0188 a0001c0004t0004g0190 a0001c0004t0004g0177 a0001c0004t0004g0188 a0001c0004t0004g0190	3	353	0.0085	-111	c.278 others(19): Show c.2785+7660_2785+7770del		RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23						chr12	TogoVar
RNF213_chr17_80255852_80403794	80355601	GGAAGAAG others(104): Show GGAAGAAGCGGGGTGAGTGGGAATGGGGGCTTACAGGGGAAGAAGCGGGG TGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGACCGGGAATG GGGGCTTACAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0029 a0029	a0029c0032 a0029c0032	a0029c0032t0015 a0029c0032t0015	a0029c0032t0015g0022 a0029c0032t0015g0022	1	289	0.0035	-111	c.108 others(21): Show c.10862+1027_10862+1137del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355741	GCTCACGG others(104): Show GCTCACGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCATGGAGGAA AAAGCGGGGTGACCGGGAATGGGGGCTTACAGGAGAAGAAGCGGGGTGAA CGGGAATGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG01884.hp1 HG02976.hp1	a0023 a0029 a0023 a0029	a0023c0110 a0029c0032 a0023c0110 a0029c0032	a0023c0110t0015 a0029c0032t0015 a0023c0110t0015 a0029c0032t0015	a0023c0110t0015g0171 a0029c0032t0015g0021 a0023c0110t0015g0171 a0029c0032t0015g0021	2	289	0.0069	-111	c.108 others(21): Show c.10862+1168_10862+1278del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665395	TTCCTTTC others(104): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCATG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0097 a0001c0027t0097	a0001c0027t0097g0059 a0001c0027t0097g0059	1	194	0.0052	-111	c.348 others(19): Show c.348+21604_348+21714del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80746188	AGGTGATC others(104): Show AGGTGATCCCCACCGCCCCCACAGCGGTGCTTTCTGCGGGTGATCCCCAC CGCCCCCACAGCGGTGCTTTCTGCGGGTGATCCCCACCGCCCCCACAGCG GTGCTTTCTGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp2 HG01934.hp2 HG00140.hp2 HG01168.hp2 HG01934.hp2	a0001 a0001	a0001c0010 a0001c0027 a0001c0010 a0001c0027	a0001c0010t0056 a0001c0010t0071 a0001c0027t0016 a0001c0010t0056 a0001c0010t0071 a0001c0027t0016	a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0027t0016g0189 a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0027t0016g0189	3	111	0.0270	-111	c.655 others(17): Show c.655-7748_655-7638del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar

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